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, T H
, Daphne E
A, Wagemans
A, Haeringen
Abd, S E
Abd El Moneim, Azza
Abdel-Salam, G M H
Abdel-Salam, Ghada M H
Abe, T
Abraham, Boban
Accadia, Maria
Acevedo, Ana Carolina
AD, Paulussen
Adam, M P
Adam, John E
Afifi, H H
Afifi, Hanan H
Aftimos, S
Agostinelli, Sergio
Aguilera Albesa, S
Ahmed, Ahsan
Akalin, F
Akin Sari, Burcu
Al Mosawi, A J
Al-Sharif, Abdulrahman
Alanay, Y
Alanay, Yasemin
Albancse, A
Albano, S
Albano, Lílian Maria José
Albertini, Giorgio
Albrecht, Beate
Aleck, Kirk
Alikaşifoğlu, M
Alix, Eudeline
Alkuraya, Hisham S
Allanson, Judith E
Almagro, María-José
Aloe, Giovanni
Alpay, H
Alper, G
Altuntas, Ali
Amerasinghe, Nishani
Amiel, Jeanne
Amoashy, D
Amor, D
Amoric, J C
Amoroso, Loredana
Anandan, M
Anderlid, Britt-Marie
Anderlid, Britt Marie
Annéren, Göran
Antonarakis, Stylianos E
Aoyagi, S
AP, Stegmann
Arici, Serap
Armstrong, Linlea
Aroichane, Maryam
Arroyo-Muñoz, M E
Arts, Peer
Arvio, Maria A
Asada, Y
Asano, Tomoichiro
Ashcroft, K A
Aso, K
Atar, M
Atkaş, D
Atsumi, N
Atzeri, F
Augello, Bartolomeo
Aughton, David J
Ayas, Kivanç
Ayme, S
Baban, Anwar
Baek, Goo Hyun
Baldermann, C
Ballarini, Elisa
Ballesteros, Enrique
Bamshad, Michael J
Banchini, G
Banka, Siddharth
Banka, S
Bankier, A
Barber, John
Barozzi, S
Barrano, Barbara
Barthez, M A
Bason, Lynn
Baumann, Clarisse
Baxendale, A
Bay, C A
Bayar Muluk, Nuray
Baydar, Z
Beccaria, Francesca
Becerra, Angela M
Beck, J D
Beck, Anita E
Beck-Woedl, S
Bedeschi, M F
Belengeanu, V
Belligni, Elga
Bellini, T
Ben-Omran, T
Benenati, A
Bennett, Christopher
Benoit, S
Benoit, Valérie
Berdasco, María
Bereket, A
Bergamaschi, Rosalba
Bergé, S J
Berkowitz, Frank
Berland, Siren
Bernardin, Céline
Bertola, Débora Romeo
Betlloch, Isabel
Beyer, Vera
Bhat, Aarti H
Bhat, Meenakshi
Biamino, Elisa
Bianca, Sebastiano
Biggelaar, A M
Bigham, Abigail W
Binquet, Christine
Bird, Lynne M
Bitoun, P
Black, Graeme C
Blair, Edward
Blaya, Pujol V
Blois, Marie-Christine
Blok, Marinus J
Blyth, Moira
Boccardo, F
Bodur, Sahin
Boduroğlu, K
Boduroglu, Koray
Bögershausen, Nina
Bögershausen, N
Bogucki, Brian
Bokinni, Yemisi
Bon, Bregje W
Bonato, S
Boncimino, Agata
Bonde, Christian T
Bonfante, Aldo
Bongers, Ernie Mhf
Bongers-Schokking, J J
Bonioli, E
Boogaard, Marie-José H
Borck, Guntram
Borsel, John
Bortone, A
Botella Astorqui, M P
Bottani, Armand
Bouchardy, Isabelle
Brackmann, Florian
Braddock, Stephen R
Brasch, F
Braun, O H
Brecevic, L
Briuglia, Silvana
Brooks, Alice S
Brown, R
Brown, D H
Bruford, E
Bruglia, Silvana
Bruni, L
Bruni, Stefano
Brunner, Han G
Bruschi, Barbara
Brøndum-Nielsen, Karen
Buckingham, Kati J
Budak, Bilgehan
Bunstone, Sancha
Bunstone, S
Buoni, Sabrina
Bureau, B
Burgt, Ineke
Burguet, Antoine
Burke, L W
Burn, J
Burvill-Holmes, L C
Butzner, Decker
Buxbaum, Joseph
C, Posma-Velter
C de Silva, Deepthi
Calcagnì, Alessia
Calişkan, Mine
Camera, G
Campisi, C
Campo, Miguel
Campo, M
Campo-Sampedro, Francisco M
Campus, G
Canham, Natalie L E
Capolino, Rossella
Capovilla, Giuseppe
Carbonell-Pérez, José M
Carcione, A
Cardesa-García, Juan J
Carloni, Ines
Carloni, I
Carta, M
Casado, A I
Casali, C
Casanova, Michela
Castle, Bruce
Castro, Roberto Almeida
Cataliotti, Antonella
Catania, Roberta
Celen, Elif
Celik, Muge
Cerutti, M
Cesarani, A
Cetinkaya, Ergun
Chaïb, H
Chandler, Kate
Chandler, Ke
Chandrasekar, V K
Chang, Philip M
Chaudhry, Imtiaz A
Chen, Chih-Ping
Cheney, S M
Chern, Schu-Rern
Cherry, Athena M
Cheung, L Y
Chiabotto, P
Chiarelli, Francesco
Chifari, Rosanna
Chiu, I S
Chow, Siu Ngan
Christie, Dennis
Chrzanowska, K H
Chu, D C
Chuah, J L
Chuah, J K
Chudley, Albert E
Chung, Moon Sang
Chyo, H
Ciccarelli, O
Cicognani, Alessandro
Cin, S
Ciprero, Karen L
Cirillo, Chiara
Clark, R
Clark, H T
Clarke, Lorne A
Clarke, C
Clayton-Smith, Jill
Clementi, Maurizio
Cocalis, Mark
Cockwell, A E
Cogulu, Dilsah
Cole, David E C
Collins, A L
Collins, Amanda L
Colombo, C
Comu, S
Condoluci, C
Conrad, Bernard
Contreras García, G A
Cook, Joseph
Cools, F
Cooper, Gregory M
Coppa, Giovanni Valentino
Coppa, G V
Coppola, Giangennaro
Cordeiro, Isabel
Cordier, Marie-Pierre
Córdoba, Mara Santos
Cormier-Daire, Valérie
Corrias, A
Corsello, G
Costa, S M
Couloigner, Vincent
Courcet, Jean-Benoît
Courtens, W
Cox, V A
Craen, M
Crespin, Marianne
Crolla, J A
Cross, Howard G
Crow, Yanick J
Crozet, F
CT, Schrander-Stumpel
Cuesta, Laura
Cueto-González, Anna M
Curfs, Leopold M G
Curry, Cynthia J R
Cuscó, Ivon
Cutrupi, Maria Concetta
D, Tserpelis
D'Addetta, Ester V
D'Amico, Salvatore
D'Egidio, Claudia
Dalgic, B
Dallapiccola, Bruno
Daolio, Cecilia
Das, Tanmoy
Dave, Vivek
Davenport, Jennifer
David, Grace
David, A
Davies, S J
Davies, Sally J
De Dios, Jose Angelo A
Dean, J
Defloor, Truus
Delatycki, M B
Delrue, Marie Ange
Demuth, Stephanie
Dennis, N R
Deshpande, Charu
Detisch, Yvonne
Devito, Rita
Devriendt, Koenraad
Dhar, Shilpa S
Di Benedetto, Fabrizio
Di Berardino, F
Di Cataldo, Andrea
Di Gennaro, Giancarlo
Dias, Patricia
Diego-Alvarez, D
Digilio, Maria C
Digilio, Maria Cristina
Digilio, Maria C
Dimitrov, Boyan
Docquier, Pierre-Louis
Dodé, C
Donadio, A
Donnai, Dian
Donnai, D
Donnelly, Deirdre E
Dorp, D B
Dörr, S
Dotta, Francesco
Douzgou, Sofia
Downes, Susan M
Downing, A L
Driscoll, Catherine
Driscoll, D A
Duarte, A R
Dudkiewicz, A
Dufke, A
Dupont, Juliette
Dusabe, Jean-Paul
Duval, Renaud
Dyamenahalli, Umesh
Eaves, L C
EE, Smeets
Eguchi, Mitsuoki
Eid, M M
Eid, Maha M
El-Badry, Tarek H
Elliott, Alison M
Elmslie, Frances
Elsherbiny, Samer M
Emanuel, B S
Eminoglu, T
Emmert-Buck, Leslie T
Engelen, John J M
Enns, G M
Esteller, Manel
Ettore, Giuseppe
Evans, Jane A
Evans, S L
Ewart-Toland, A
Ezgu, E
Fahey, M
Fahim, Simone S
Faivre, Laurence
Faravelli, Francesca
Farcaş, S
Faridi, M M A
Fedotov, V
Felipe-Murcia, Matías
Fernandes, Patrícia Motta
Fernández, I
Ferrari, Rudolf
Ferrari, Andrea
Ferrari, Paola
Ferrari, Iris
Ferretti, C
Fewin, L
Figueiredo, Paulo Tadeu
Filipponi, E
Fimiani, Michele
Finley, S C
Finn, Laura
Fischetto, Rita
Fishbein, Thomas M
Fisher, Robert A
Fisher, A M
Fisher, S
Fisher, Richard
Fitoz, Suat
Flores, Raquel
Fode, B
Fong, C T
Fontenot, Eudice
Forzano, Francesca
Fox, Danya
Franceschini, P
Franceschini, D
Francis, Annick
François, Martine
Frankenbusch, Katja
Frediani, T
Freitas, E M
Frías, Jaime L
Frías, J L
Frisina, R D
Fry, Andrew E
Fryns, Jean-Pierre
Frysira, Elena
Fujinaga, Shuichiro
Fujishiro, Midori
Fujita, M
Fukami, S
Fukushima, Yoshimitsu
Fukushima, Hidefumi
Fukushima, Yasushi
Fukushima, Hiroyuki
Furukawa, Toshiharu
Fusco, Carmela
Gabrielli, Orazio
Gabrielli, O
Galán, Enrique
Galán-Gómez, Enrique
Gallardo, F L
Garavelli, L
Garavelli, Livia
García, Bm Núñez
García-Alix, A
García-Arias, S
García-Miñaúr, Sixto
García-Torres, O
Garrido, J M
Gençay, Koray
Gener, Blanca
Geneviève, David
Geneviève, David
Geraedts, Joep
Geraedts J, Ravel T
Gerard, Bénédicte
Gérard, Marion
Ghariani, Sophie Claire
Giannakudis, I
Giannotti, A
Gibbons, Richard
Gibson, K
Gidwani, Pooja
Gilbert-Dussardier, Brigitte
Gildersleeve, Heidi I
Gilissen, Christian
Gill, Harinder
Gillessen-Kaesbach, Gabriele
Gillis, R
Gilmartin, B
Giralt, Colomer M
Giuffrè, L
Giunta, A M
Gledhill, R
GM, Mancini
Gobbi, Giuseppe
Golabi, M
Goldenberg, Alice
Gong, Hyun Sik
González, Eva
González Armengod, C
Goodship, Judith
Goto, Y
Goulois, E
Gowrishankar, Kalpana
Graham, John M
Gramss, B
Granneman, Susanne M
Grebe, Theresa A
Greshock, J
Griffiths, Michael F P
Gripp, Karen W
Grisart, Bernard
Gross-Kieselstein, E
Grosso, Salvatore
Grunseich, Christopher
Guala, A
Guarneri, Fabrizio
Guarneri, Claudio
Guilford, P
Guion-Almeida, Maria Leine
Gumiero, Barbara
Gündüz, Selen
Gunduz, M
Gunji, Tetsuki
Haan, E
Habes, D
Haelst, M M
Haeringen, Arie
Halal, F
Hall, Bryan D
Hall, Judith G
Halliday, J L
Hama, Asahito
Hamahata, Atsumori
Hamdi Kamel, M
Hammamji, Karim
Handa, Y
Hannibal, Mark C
Hansmann, I
Hara, Toshiro
Harada, Naoki
Hardikar, Winita
Hardwick, Robert
Hart, P E
Hasanoglu, A
Haspolat, Senay
Hata, A
Hayakawa, K
Hayakawa, Hiroshi
Hayek, Joseph
Heard, Jason Paul
Hébert, J-C
Hemmady, Sandeep
Hempel, J M
Henderson, Alex
Henkle, Laura E
Hennekam, Raoul
Hennekam, Raoul C M
Herranz, Ana
Hersh, Joseph H
Hickey, D P
Hinrichs, B
Hirano, Daishi
HJ, Smeets
Ho, H H
Ho, Josephine
Hobart, Holly H
Hobson, Emma
Hodgkins, Peter
Hoffman, Jodi D
Hogan, C A
Hoischen, Alexander
Hollander, J C
Holmberg, Eva
Holroyd, Judy M
Holter, W
Holter, Wolfgang
Honjo, Rachel Sayuri
Hoogeboom, Jeannette
Hori, Sadao
Horslen, Simon
Hosenfeld, D
Hoshika, Akinori
Hostoffer, R W
Hou, Jia-Woei
Houge, Gunnar
Hough, J V
Howard, Emma
Howard, E
Howlin, P
Hoyer, Juliane
Hoyme, Eugene H
Huang, X L
Hudgins, Louanne
Huet, Frédéric
Hughes, H E
Hughes, D S
Huh, Jung Kyu
Hulsmans, R F
Hung, Y B
Hunter, Alasdair
Hussain, Khalid
Hwang, Jeong-Min
I, Stolte-Dijkstra
Igawa, H H
Ihara, Kenji
Iida, Takuya
Ijichi, O
Ikarimoto, N
Ikegawa, S
Ikezumi, Yohei
Il'ina, E G
Ilyina, H
Imaizumi, K
Imamura, Michiaki
Imanaka, Hideaki
Imanishi, K
Imer, Murat
Ince, E
Incesulu, Armagan
Indaco, Lara
Ingegnosi, Carmela
Innes, Micheil A
Inoue, Nami
Inoue, Y
Inoue, K
Inui, Daisuke
Inuyama, Y
Ioan, D M
Ionita-Laza, Iuliana
Ishida, Makiko
Ishikawa, N
Ishikawa, Masashi
Ishikiriyama, S
Ishimaru, J
Isidor, B
Ito, Hiromichi
Ito, T
Ito, Naoko
Iwama, Yoshihiko
Iyawa, A
J, Smagt
Jacobs, P A
Jacquemin, E
Jacquemont, Marie-Line
Jaeken, Jaak
Jäger, L
James, Chela
Jaquette, Aurélia
Jardine, P E
Javaid, Adnan A
Jayasudha, T
Jefferies, C
JJ, Schrander
Johnson, Glenn
Johnson, Nicole
Jones, Kenneth L
Jones, Marilyn C
Jones, J R
Jongste, J C
JP, Fryns
K, Devriendt
Kabuki, Naoyuki
Kagami, Shoji
Kaguelidou, Florentia
Kahveci, Orhan K
Kaiga, Kazuhiro
Kaino, Y
Kaiser-Kupfer, M I
Kajii, T
Kajimoto, Michiko
Kamei, Wataru
Kamei, Kouichi
Kan, Pu-Yeh
Kaname, Tadashi
Kaneko, H
Kaneko, Kazunari
Kaplan, Paige B
Kapoor, Ritika R
Kara, Bülent
Karaali, Kamil
Karaer, Kadri
Kashiwagi, Yasuyo
Käsmann-Kellner, B
Kasuya, H
Kate, L P
Kathuria, Sajeev S
Kato, Mitsuhiro
Kato, Kogo
Kato, H
Katsaros, C
Kawaguchi, K
Kawakami, K
Kawame, Hiroshi
Kawara, Hiroki
Kawashima, Hisashi
Kay, Robert M
Kayirangwa, Honorine
Kayserili, Hülya
Kendrick, Victoria
Keppler-Noreuil, Kim
Kerr, Bronwyn
Kerr, B
Kerstjens-Frederikse, Wilhelmina S
Kets, Marleen C
Keupp, Katharina
Kholoussi, N M
Kholoussi, Naglaa
Kida, K
Kidd, A
Kim, Chong Ae
Kim, Nam Gil
Kim, Hyon J
Kim-Han, Le Quan Sang
Kimberley, Kendra W
Kimizuka, M
Kimura, Satoshi
Kingston, Helen
Kinoshita, Akira
Kishino, Tatsuya
Kitajima, T
Kitani, Y
Kitano, Ichiko
Kittayalaksakun, Somlak
Klaes, R
Klar, A
Klein, K L
Kluijt, I
Knutsen, Alan
Kobayashi, E T
Kobayashi, K
Kobayashi, O
Koehn, David
Kojima, K
Kojima, Seiji
Kokitsu-Nakata, Nancy Mizue
Kolodziej, P
Kondoh, Tasturo
König, R
Konoeda, Hisato
Koolen, David A
Kosaki, Kenjiro
Kostjuk, A
Kosuga, K
Koulischer, L
Koutras, A
Koyama, Y
Krajewska-Walasek, M
Kramer, S
Kratzsch, E
Kreck, Christiane
Krüger, A
Krumbholz, Manuela
Ku, Chee-Seng
Kuandykov, E U
Kuijpers-Jagtman, A M
Kulkarni, M L
Kulkarni, Preethi M
Kumade, M
Kumagai, Toshiyuki
Kumar, N
Kumar, Jeevan M
Kumar, Ashok R
Kung, Grace C
Kuniba, Hideo
Kuroki, Yoshikazu
Kurosawa, Kenji
Kuś, J
Kwee, M L
Kyrkanides, S
Lachlan, Katherine
Lachlan, K
Lacombe, Didier
Lacombe, D
Ladha, S
Laganà, Carmelo
Lai, V
Laloux, F
Lalwani, A K
Lam, S T
Lam, Wayne W K
Lan, K
Landis, Pat
Langer, Thorsten
Langlois, Sylvie
Lapi, Elisabetta
Latorre, Nuria
Le Merrer, Martine
Lederer, Damien
Lee, W
Lee, Choli
Lee, Young Ho
Lee, Sung-Hun
Lee, Min Gyu
Lehmkühler, Margret
Leite, Andréferreira
Lemli, L
Lerone, M
Lesenfants, S
Levi-Acobas, F
Levilliers, J
Li, M
Li, Yun
Liang, Deshung
Licciardello, Maria
Lier, Bart
Lin, Shuan-Pei
Lin, Angela E
Lin, S J
Lin, Xihong
Lindfield, Dan
Lindholm, Pernille
Lipkin, Paul
Liptak, G S
Litoux, P
Lo, I F
Lodi, Monica
Loma-Osorio, Pablo
Loneus, Wim H
López-Guerrero, Antonio López
Lorda-Sanchez, I
Lorenzetti, Maria Elena
Loviglio, Maria N
Lucarelli, S
Lüerssen, K
Lugliè, P F
Lung, Z H S
Lunt, P W
Lurie, I
Lynch, Sally Ann
Lyonnet, Stanislas
M, Vreeburg
Ma, Kam Hung
Ma, Li
Maas, Nicole M C
Macucci, Francesca
Madaliński, K
Madan, K
Madokoro, H
Maeda, T
Maeda, K
Magee, Alex
Maher, T A
Mahone, Mark E
Majolini, Lucia
Makarov, Vlad
Makita, Y
Makrythanasis, Periklis
Maloney, Viv
Mammì, Corrado
Mancini, Grazia M
Mano, Akiko
Marcelis, Carlo L
Marcellini, Matilde
Marino, B
Marino, Bruno
Marşan, Gülnaz
Martínez, C
Martínez-Fernández, M L
Martínez-Frías, María Luisa
Martínez-Lage, Juan F
Maruyama, Y
Mascarello, J T
Massocco, D
Matsuda, Y
Matsuda, H
Matsui, I
Matsui, Toshiharu
Matsuishi, T
Matsumoto, Tadashi
Matsumoto, Naomichi
Matsumura, M
Matsune, K
Matsuo, K
Matsuura, N
Matsuwake, Kumiko
Mattina, Teresa
Mavers, Melissa
Mayhew, James F
Maystadt, Isabelle
Maziarka, D
Mazzanti, Laura
McConnell, Vivienne P M
McCutcheon, L
McDonald-McGinn, Donna M
McEntagart, Meriel
McGaughran, J M
McGinniss, M J
McKee, S
McLeod, Ross
McMahon, Colin J
McMillin, Margaret J
Medeira, Ana
Mefford, Heather C
Mehta, Sg
Meinecke, P
Melis, Daniela
Meloni, Marta
Melotte, Cindy
Mencarelli, Maria A
Merla, Giuseppe
Merlino, Maria Valeria
Mervis, Carolyn B
Mestrinho, Heliana Dantas
Metcalfe, Kay
Metersky, Mark L
Metzler, Markus
Mhanni, A A
Micale, Lucia
Michaud, Jacques L
Michałkiewicz, J
Michi, K
Michiwaki, Y
Michot, Caroline
Mihçi, Ercan
Milani, D
Milunsky, J M
Milz, Esther
Ming, Jeffrey E
Miracco, Clelia
Misirlioğlu, E D
Mitra, Debashish
Mitsudome, Akihisa
Miura, S
Miyajima, Tasuku
Miyakawa, M
Miyake, Noriko
Miyamoto, A
Miyata, K
Miyazawa, Y
Miyoshi, O
Mizuno, Seiji
MJ, Blok
MJ, Boogaard
Mohammed, Shehla N
Mohammed, Shehla
Mohan, P
Mohan, G C
Mohn, Angelika
Moncla, A
Moncla, Anne
Monica, Matteo
Monje, Rodríguez C
Montanari, Francesca
Monteagudo, Almudena Flavia
Moore, Anthony T
Moraine, C
Moral, Sergio
Morán, Quesada L
Morcaldi, G
Mori, Kenji
Mori, Mika
Morikawa, A
Moriuchi, Hiroyuki
Morris, Colleen A
Morton, Jenny E
Motokawa, Wataru
Mourier, O
Mousson, Christiane
Muller, D
Mulvihill, J J
Munnich, Arnold
Munnik, Sonja A
Murakami, Hitohiko
Muramatsu, Hideki
Murchan, H
Murray, Jeffrey Clark
Muszlak, M
MW, Wessels
Nagai, Toshiro
Nagai, A
Naidoo, Nasheen
Nakamura, S
Nakamura, Miho
Nakashima, Masanosuke
Nakashima, Mitsuko
Nakataki, Emiko
Naritomi, Kenji
Narumi, J
Naselli, A
Naumann, A
Naumtchik, I
Navarro, Encarna Guillén
Nemeth, Andrea H
Neri, G
Neves, Maria Amélia
Ng, A Y
Ng, Sarah B
Nicita, Francesco
Nickerson, Deborah A
Nicolae, Dan L
Niermeijer, Martinus F
Nieuwint, A W
Niikawa, Norio
Niikawa, N
Nikkel, Sarah M
Nishi, T
Nishiguchi, T
Nishimura, Masaji
Nishio, Nobuhiro
Nishizaki, Naoto
Nishizawa, N
Nobili, Valerio
Nomura, Masayo
Nordenskjöld, Magnus
Nordgren, Ann
Nozaki, Motohiro
Numabe, Hironao
Nydegger, Andreas
O'Donnell, D
O'Meara, Anne
O'Sullivan, Maureen
Oahama, Y
Ocal, G
Ochiai, Yukikatsu
Ocio Ocio, I
Oda, Y
Odent, Sylvie
ODoherty, Declan
Ogasawara, Hideki
Ogata, Kazuhiro
Ogawa, Atsushi
Ogihara, Takehide
Oh, Joo Han
Ohashi, Hirofumi
Ohdo, S
Ohfu, Masaharu
Ohishi, K
Ohsawa, T
Ohta, Tohru
Ohtomo, Yoshiyuki
Oka, Yoshitomo
Oka, N
Okada, Y
Okamoto, Nobuhiko
Oksanen, Virpi E
Okubo, Aiko
Okuno, A
Okur, I
Oley, Christine
Oliva, P
Olney, A H
Omair, E
Oncag, Ozant
Ono, S
Onorati, Paolo
Opitz, John M
Opitz, Ch
Ordónez Suarez, A A
Oro, J
Orsi, Alessandra
Ospina, Luis H
Oto, Jun
Ozhan, Z R
Ozkinay, Ferda
Ozmen, Meral
Padilla, Calderón V
Paduano, Valeria
Pagon, R A
Palencia, R
Pals, G
Parazzini, Cecilia
Pardo, Bruno
Parent, Philippe
Park, Susam
Park, Soo-Mi
Parker, Michael J
Parry, D M
Pascual-Castroviejo, I
Pascual-Pascual, S I
Patricelli, Maria G
Patton, M A
Paula e Silva, Francisco Wanderley Garcia
Paulussen, Aimée D C
Pavone, Piero
Pawitan, Yudi
Pawlik, Barbara
PeBenito, R
Peippo, Maarit M
Peixoto, Iza Teixeira Alves
Pelet, Anna
Pennisi, Monica
Pérez-Espejo, Miguel A
Pérez-Jurado, Luis A
Perez-Jurado, Luis
Perez-Martin, Stéphanie
Perrot, A
Petersen, Rikke Børthy
Peterson-Falzone, S J
Petit, C
Petrin, Aline Lourenço
Petroncini, M M
Petzold, D
Pfeiffer, L
Philip, Nicole
Philippet, B
Phillips, Stephen
Piccione, M
Pinson, Lucille
Piro, E
Plée, Y
Ployet, M J
Plume, Nadine
Pohl, Esther
Poisson, Sylvain
Porter, Neroli J
Posma-Velter, Crool
Pottinger, Caroline C
Powell, H W R
Pozzolo, S
Prasad, Vinay
Prasad, Chitra
Preslan, Mark W
Price, Susan M
Prieur, Fabienne
Prieur, Marguerite
Priolo, M
Priolo, Manuela
Prontera, Paolo
Prott, Eva-Christina
Proud, V K
Ptok, M
Punyashthiti, Rachaneekorn
Quarato, Pier Paolo
Queiroz, Alexandra Mussolino
Quero, J
Raas-Rothschild, Annick
Raby, Benjamin
Rachwalski, Martin
Ragge, Nicola
Ramachandran, Manoj
Ranaivoarivony, V
Randolph, Linda M
Raoul, Odile
Rascher, Wolfgang
Rashid, M H
Rassart, A
Rauch, A
Ravel, Thomy
RC, Hennekam
Reardon, William
Reardon, Stavroula Psoni15 Willie
Reed, Martin H
Reinberg, Danny
Renieri, Alessandra
Rennie, A
Revencu, Nicole
Reymond, Alexandre
Reynoso, César
Ribeiro, Roberta Rezende
Ribeiro, T C
Ribeiro, R C
Richieri-Costa, Antonio
Rieder, Mark J
Riess, A
Riess, O
Righi, E
Rigoli, Luciana
Rio, M
Rister, Manfred
Rizzo, R
Roccella, M
Rocha, Cristiane Tomaz
Rodríguez, L
Rodríguez-Santiago, Benjamín
Roeder, Elizabeth
Romana, Serge
Romeo, G
Romeo, Antonino
Roscioli, Tony
Rosenbaum, Kenneth
Rosenthal, P
Rosti, Rasim Ozgür
Rouffiange, Lucie
Roume, Joelle
Rowe, Melissa L
Roy, Debashis
Rozsnyai, K
Rudra, Amitava
Ruiterkamp-Versteeg, Martina
Ruivenkamp, Claudia
Ruiz, J
Russell, Karen L
Ruvalcaba, R H
Safatle, Heloísa Pires Neto
Sahara, H
Sainio, Kimmo O
Saitsu, Hirotomo
Sakaguchi, R
Sakuragawa, N
Sakurai, Hiroyuki
Salamanca-Maesso, C
Salomon, Rémi
Salpietro, Damiano Carmelo
Sanchez, Elodie
Sánchez-Carpintero, Rocío
Sanger, J A
Sanlaville, Damien
Santi, Maria M
Santiago, J
Santos, Bianca Mota
Santos, Daniela Vera Cruz
Santos, Heloísa G
Sanz, Jacqueline H
Sarda, Pierre
Sato, Daisuke
Sato, Takeshi
Satoh, M
Savarirayan, R
Savasta, Salvatore
Say, B
Scarano, Emanuela
Scarano, Gioacchino
Scarinci, Renato
Schaefer, G B
Schelley, Susan
Scherer, Sabine
Schlesinger, S L
Schlicker, M
Schmid, E
Schorn, K
Schoumans, Jacqueline
Schrander, Jaap J P
Schrander-Stumpel, Constance T R M
Schutt, W H
Schuurs-Hoeijmakers, Janneke Hm
Schweiger, Susann
Sebastiano, Fabio
Segal, Eric
Seitz, B
Selicorni, A
Selicorni, Angelo
Sembely, C
Seri, M
Sethi, Sidharth K
Seymen, Figen
Shah, Maulik
Shahdadpuri, Raveen
Shaikh, Tamim H
Shalev, Stavit A
Shamim, Ejaz A
Shamsi, Farrukh A
Shanske, Alan
Sharma, Pradeep
Shen, Zhezhong
Shendure, Jay
Shetty, Sudarshan K
Shi, Xiaobing
Shieh, Joseph T C
Shiina, Masaaki
Shimizu, T
Shimizu, Toshiaki
Shimokawa, Osamu
Shinoki, Toshihiko
Shiroma, K
Shojima, Nobuhiro
Shotelersuk, Vorasuk
Silengo, M C
Silengo, Margherita Cirillo
Sillence, David
Silva, E O
Silva, Claudia Renata Leite
Simpson, Michael
Simsek Kiper, Pelin Ozlem
Sisodiya, S M
Sivaci, Remziye
Skaggs, David L
Skladny, H
Sklansky, Mark S
Slaney, S
Smagt, Jasper
Smeets, Eric E J G L
Smeets, Hubert J
Smith, Joshua D
Smith, Audrey
Sobral, Samanthado Prado
Soejima, Kazutaka
Sokoda, Tatsuyuki
Solak, Mustafa
Sommer, Annemarie
Sonoda, T
Sorge, Giovanni
Sosonkina, Nadia
Souza, J C
Soysal, Sebnem A
Spalice, Alberto
Spano, G
Spruyt, Liesbeth
Srivuthana, Sumarlee
Stachel, D
Stadter, Carmella S
Stalder, J F
Standl, T
Stankiewicz, P
Stankovics, J
Starke, H
Steehouwer, Marloes
Stegmann, Alexander P A
Stene, J J
Stephanenko, G
Stewart, Fiona
Stiff, Rhianwen E
Stolte-Dijkstra, Irene
Stuani, Adriana Sasso
Suarez Guerrero, J L
Sudo, Akira
Sugalski, Rachel D
Sugihara, T
Sugiyama, Setsuo
Sullivan, Kathleen E
Suma, K
Sunaga, S
Suskind, David L
Suttipong, Wacharasindhu
Suzuki, Y
Tabor, Holly K
Taçoy, Sükran
Takada, Keisuke
Takahama, T
Takahashi, Yoshiyuki
Takahashi, Takao
Takakura, K
Takamatsu, H
Takano, Tomoyuki
Takekuma, Kouji
Takenouchi, Toshiki
Takeuchi, Masaki
Takeuchi, Y
Takeuchi, Yoshihiro
Tallents, R H
Tamburrino, Federica
Tanaka, K
Tanaka, Hidenori
Tanaka, Ryuma
Taranu, Ma
Tavares, Alt
Tawa, R
Teebi, Ahmad S
Teh, Bin Tean
Teissier, Natacha
Teixeira, Camila Santos
Teixeira, Vera Coelho
Tekin, Mustafa
Temple, Karen I
Testa, A
Theile, Ursel
Theunissen, P M
Thiele, H
Thoenes, Michaela
Thomas, Philip
Thompson, E M
Thompson, Dorothy A
Tibboel, D
Till, Marianne
Tinschert, S
Todd, C
Tohma, Takaya
Toida, M
Tokimura, F
Tokunaga, M
Toledo, Laura
Toledo, Fernando
Tolmie, John
Tolmie, J
Tomoda, Yasuko
Tomomasa, T
Tonoki, Hidefumi
Torella, Michele
Torii, Yuka
Torres, Carolina Paes
Toscano, A
Toschi, Benedetta
Toutain, Annick
Trembath, Richard C
Trevenen, Cynthia
Tsai, Fuu-Jen
Tserpelis, Demis
Tsubota, Kazuo
Tsuda, M
Tsukahara, M
Tsukuda, Katsunori
Tsurusaki, Yoshinori
Tsutsumi, Yasushi
Tsuyuki, Kazumitu
Tumer, L
Tumino, Manuela
Tuna, Elif Bahar
Tunçbilek, E
Turan, S
Turleau, Catherine
Turner, Claire
Turner, A
Turner, Emily H
Turolla, Licia
Tutar, H E
Tzschach, A
Uchida, Keiko
Uchiyama, Makoto
Umemoto, H
Upton, Sheila
Urtizberea, A
Utine, G E
Utine, Gülen Eda
Vaccaro, Mario
Vaes-Peeters, Gerrie
Val-Sánchez de León, José M
Valanne, Leena K
Valdez-Geraldo, C M
Valdez-Geraldo, B M
Vamos, E
Van Borsel, J
Van Cauwenberge, P
Van de Putte, Tom
Van Den Abbeele, Thierry
Van den Berghe, H
Van Dyck, Maria
Van Hagen, J M
Van Lierde, K M
Van Reempst, P
Vancini, Alessandra
Vardeu, M P
Vasanthi, T
Vasudevan, Pradeep C
Vaux, Keith K
Veeramachaneni, Ratna
Vekemans, Michel
Velázquez-Fragua, R
Velea, I
Veltman, Joris A
Vendrame, Francesco
Vendramini, S
Vendramini-Pittoli, Siulan
Vendrell, Teresa
Venglarcik, J
Verde, V
Verellen-Dumoulin, Christine
Verloes, Alain
Verloes, A
Vermeesch, Joris R
Verrotti, Alberto
Versiani, Beatriz Ribeiro
Vidinlisan, S
Vignolo, M
Vilardell, Mireia
Vinault, Sandrine
Vincent-Delorme, Catherine
Viola, Laura
Viot, Géraldine
Viri, Maurizio
Viviano, Massimo
Voigt, Philipp
Volterrani, Luca
Vreeburg, Maaike
Vries, Bert Ba
Wacharasindhu, Suttipong
Wagemans, Annemieke
Wagner, K
Wahbeh, Ghassan
Walker, Jm Cavanilles
Wallerstein, Robert
Walter, Claudia
Wang, Wayseen
Wang, L C
Wang, P J
Wang, J K
Wang, Z
Wang, M
Wappler, F
Warburg, M
Watanabe, Shinichirou
Watanabe, T
Weber, B L
Weil, D
Wellesley, D G
Wessels, Marja W
White, S M
Wieczorek, Dagmar
Willems, Patrick J
Willems, Marjolaine
Williams, Marc S
Wilson, G N
Wilson, L
Wilson, R
Winship, I
Wintgens, A M
Wollnik, Bernd
Wollnik, B
Wolski, J K
Wright, Michael J
WS, Kerstjens-Frederikse
Wu, M H
Wulfsberg, Eric A
Xiong, Feng
Y, Detisch
Yagasaki, Hiroshi
Yalçinkaya, Fulya
Yamada, K
Yamada, R
Yamada, Y
Yamaguchi, Harutaka
Yamaki, Takashi
Yamamoto, H
Yanagisako, Y
Yang, Xue-jing
Yano, S
Yasumoto, Sawa
Yau, Fai To
Yigit, Gökhan
Yntema, Helger G
Yoon, Seungtai
Yoshihashi, Hiroshi
Yoshino, M
Yoshioka, Seiichirou
Yoshioka, Seiichiro
Yoshiura, Koh-ichiro
Young, D W
Young, E C
Yuan, Shi-Min
Zackai, Elaine H
Zannolli, Raffaella
Zappella, Michele
Zarate, Y A
Zatterale, Adriana
Zegher, F
Zelante, Leopoldo
Zeng, Yan
Zhan, H
Zhang, Y
Zhao, G
Zimmerman, Robert A
Zimmermann, Th
Zou, Y
Zubieta, José Luis
Zuccarino, Flavio
Zucchetti, Federica
Zweier, Christiane
Zwolinski, S
Journal Article
2013
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Abnormalities, Multiple
Acute Disease
Adolescent
Adrenal Gland Neoplasms
Age Determination by Skeleton
Algorithms
Alleles
Anodontia
Antibodies, Monoclonal
Antibodies, Monoclonal, Murine-Derived
Arachnoid Cysts
Articulation Disorders
Audiometry
Base Sequence
Brazil
Cafe-au-Lait Spots
Case-Control Studies
Cephalometry
Child
Child, Preschool
Chromosome Mapping
Chromosomes, Human, Pair 8
Chromosomes, Human, X
Cleft Palate
Cognition
Color Perception
Common Variable Immunodeficiency
Comorbidity
Comoros
Computer Simulation
Consanguinity
Corneal Diseases
Craniofacial Abnormalities
Craniofacial Dysostosis
Craniosynostoses
Craniotomy
Crohn Disease
Cytogenetic Analysis
Cytoskeletal Proteins
Dental Caries
Developmental Disabilities
Diagnosis, Differential
Diarrhea
DNA Mutational Analysis
DNA-Binding Proteins
Dwarfism
Exome
Exons
Eye Abnormalities
Eyebrows
Eyelids
Face
Facies
Failure to Thrive
Fatal Outcome
Female
Femur
Fingers
Follow-Up Studies
Gene Deletion
Gene Frequency
Gene Order
Genes, Dominant
Genetic Association Studies
Genetic Diseases, Inborn
Genetic Linkage
Genetic Predisposition to Disease
Genetic Testing
Genome-Wide Association Study
Genotype
Granuloma
Growth Disorders
Hand Deformities, Congenital
Hematologic Diseases
Hepatoblastoma
Heredity
Heterozygote
Histone Demethylases
Humans
Hypercalcemia
Hypoplastic Left Heart Syndrome
Image Processing, Computer-Assisted
Imaging, Three-Dimensional
Immunologic Factors
Infant
Infant, Newborn
Infant, Premature, Diseases
Inheritance Patterns
Intellectual Disability
Intracranial Hypertension
Kazakhstan
Language Development Disorders
Limb Deformities, Congenital
Liver
Liver Function Tests
Liver Neoplasms
Lung Diseases, Interstitial
Lymphedema
Magnetic Resonance Imaging
Male
Malformations of Cortical Development
Malocclusion, Angle Class III
Mandibulofacial Dysostosis
Maxillofacial Development
Mental Retardation
Micrognathism
Models, Genetic
Molecular Sequence Data
Muscle Hypotonia
Mutation
Neoplasm Proteins
Nerve Fibers, Myelinated
Nervous System Malformations
Neuroblastoma
Neuropsychological Tests
Nuclear Proteins
Obesity
Open Bite
Optic Disk
Optic Disk Drusen
Oxidoreductases Acting on CH-CH Group Donors
Palate, Hard
Pedigree
Persistent Hyperinsulinemia Hypoglycemia of Infancy
Phenotype
Platelet Count
Poisson Distribution
Polymorphism, Single Nucleotide
Pregnancy
Prognosis
Protein-Energy Malnutrition
Psychomotor Disorders
Psychomotor Performance
Purpura, Thrombocytopenic, Idiopathic
Radiography, Panoramic
Rare Diseases
Receptors, Calcium-Sensing
Republic of Korea
Retinitis Pigmentosa
Sarcoma, Synovial
Semantics
Sequence Analysis, DNA
Severity of Illness Index
Software
Space Perception
Speech Perception
Speech Therapy
Staphylococcal Infections
Strabismus
Syndrome
Tomography, X-Ray Computed
Tooth Abnormalities
Urogenital Abnormalities
Validation Studies as Topic
Vestibular Diseases
Vision, Binocular
Visual Acuity
Visual Perception
Williams Syndrome
Writing
Zellweger Syndrome