Publications

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Burke LW, Jones MC. "Kabuki syndrome: underdiagnosed recognizable pattern in cleft palate patients." Cleft Palate Craniofac. J.. 1995;32(1):77-84. Abstract
Braun OH, Schmid E. "Kabuki makeup syndrome (Niikawa-Kuroki syndrome) in Europe." J. Pediatr.. 1984;105(5):849-50.
Braun OH, Schmid E. "[Niikawa-Kuroki syndrome (the so-called Kabuki make up syndrome)]." Klin Padiatr. 1986;198(1):65-8. Abstract
Brackmann F, Krumbholz M, Langer T, Rascher W, Holter W, Metzler M. "Novel MLL2 Mutation in Kabuki Syndrome With Hypogammaglobulinemia and Severe Chronic Thrombopenia." J. Pediatr. Hematol. Oncol.. 2012. Abstract
Bottani A, Pardo B, Bouchardy I, Schoumans J, Toutain A, Conrad B. "No major contribution of the TGFBR1- and TGFBR2-mediated pathway to Kabuki syndrome." Am. J. Med. Genet. A. 2006;140(8):903-5.
Bokinni Y. "Kabuki syndrome revisited." J. Hum. Genet.. 2012;57(4):223-7. Abstract
Bögershausen N, Wollnik B. "Unmasking Kabuki syndrome." Clin. Genet.. 2012. Abstract
Bögershausen N, Bruford E, Wollnik B. "Skirting the pitfalls: a clear-cut nomenclature for H3K4 methyltransferases." Clin. Genet.. 2012. Abstract
den Biggelaar AM, Kuijpers-Jagtman AM, Bergé SJ, Katsaros C. "[Kabuki syndrome, a congenital syndrome with multiple anomalies]." Ned Tijdschr Tandheelkd. 2006;113(12):516-9. Abstract
Bianca S, Barrano B, Cataliotti A, Indaco L, Ingegnosi C, Ettore G. "Kabuki syndrome and sex chromosomal anomalies: is it really an association?" Fertil. Steril.. 2009;91(5):e6.
Bhat AH, Davenport J, Cocalis M. "Partial Anomalous Left Pulmonary Artery along with Aortic Coarctation in an Infant with Kabuki Syndrome." Echocardiography. 2012. Abstract
Bereket A, Turan S, Alper G, Comu S, Alpay H, Akalin F. "Two patients with Kabuki syndrome presenting with endocrine problems." J. Pediatr. Endocrinol. Metab.. 2001;14(2):215-20. Abstract
Berdasco M, Esteller M. "Genetic syndromes caused by mutations in epigenetic genes." Hum. Genet.. 2013;132(4):359-83. Abstract
Ben-Omran T, Teebi AS. "Structural central nervous system (CNS) anomalies in Kabuki syndrome." Am. J. Med. Genet. A. 2005;137(1):100-3.
Belengeanu V, Rozsnyai K, Farcaş S, Velea I, Fryns J-P. "Familial transmission of a dysmorphic syndrome: a variant example of Kabuki syndrome?" Genet. Couns.. 2005;16(2):167-71. Abstract
Bayar Muluk N, Yalçinkaya F, Budak B, Gündüz S, Ayas K. "Evaluation for language and speech development in Kabuki make-up syndrome: a case report." Int. J. Pediatr. Otorhinolaryngol.. 2009;73(12):1837-40. Abstract
Barozzi S, Di Berardino F, Atzeri F, et al. "Audiological and vestibular findings in the Kabuki syndrome." Am. J. Med. Genet. A. 2009;149A(2):171-6. Abstract
Banka S, Howard E, Bunstone S, et al. "MLL2 mosaic mutations and intragenic deletion-duplications in patients with Kabuki syndrome." Clin. Genet.. 2012. Abstract
Banka S, Veeramachaneni R, Reardon W, et al. "How genetically heterogeneous is Kabuki syndrome?: MLL2 testing in 116 patients, review and analyses of mutation and phenotypic spectrum." Eur. J. Hum. Genet.. 2012;20(4):381-8. Abstract