Publications
Filters: First Letter Of Last Name is N [Clear All Filters]
Kabuki make-up syndrome and report of a case with hydrocephalus." Childs Nerv Syst. 1998;14(6):230-5. Abstract
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Kabuki make-up syndrome is not caused by microdeletion close to the van der Woude syndrome critical region at 1q32-q41." Am. J. Med. Genet.. 1999;86(3):285-8. Abstract
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Kabuki make-up syndrome (Niikawa-Kuroki syndrome) associated with congenital heart disease." J. Med. Genet.. 1985;22(2):126-7. Abstract
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Kabuki make-up syndrome (Niikawa-Kuroki syndrome) with cleft lip and palate." J Craniomaxillofac Surg. 1991;19(3):99-101. Abstract
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Kabuki syndrome: a review study of three hundred patients." Clin. Dysmorphol.. 2002;11(2):95-102. Abstract
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Kabuki syndrome and diaphragmatic defects: a frequent association in non-Asian patients?" Am. J. Med. Genet.. 2000;91(2):164-5.
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Kabuki syndrome in son and low grade mosaic 45,X/46,XX in mother." Genet. Couns.. 1996;7(3):201-6. Abstract
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Kabuki syndrome is not caused by a microdeletion in the DiGeorge/velocardiofacial chromosomal region within 22q 11.2." Am. J. Med. Genet.. 1996;65(2):101-3. Abstract
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KDM6A Point Mutations Cause Kabuki Syndrome." Hum. Mutat.. 2013;34(1):108-10. Abstract
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Lack of C20orf133 and FLRT3 mutations in 43 patients with Kabuki syndrome in Japan." J. Med. Genet.. 2008;45(7):479-80.
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Latex allergy in a patient with Kabuki syndrome. Case report." Rev Bras Anestesiol. 2010;60(5):544-50. Abstract
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Long-term outcome of epilepsy in Kabuki syndrome." Seizure. 2011;20(8):650-4. Abstract
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Membranoproliferative glomerulonephritis Type 3 associated with Kabuki syndrome." Clin. Nephrol.. 2012. Abstract
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MLL2 and KDM6A mutations in patients with Kabuki syndrome." Am. J. Med. Genet. A. 2013;161(9):2234-43. Abstract
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Molecular karyotyping in 17 patients and mutation screening in 41 patients with Kabuki syndrome." J. Hum. Genet.. 2009;54(5):304-9. Abstract
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[Niikawa-Kuroki syndrome. Which characteristics must the HNO doctor consider in its diagnosis]." HNO. 2005;53(3):253-6. Abstract
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No detectable genomic aberrations by BAC array CGH in Kabuki make-up syndrome patients." Am. J. Med. Genet. A. 2006;140(3):291-3.
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No mutation in RAS-MAPK pathway genes in 30 patients with Kabuki syndrome." Am. J. Med. Genet. A. 2008;146A(14):1893-6.
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[An operative case of Kabuki make-up syndrome with ASD and pulmonary hypertension]." Kyobu Geka. 1985;38(9):737-40.
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Patellar dislocation in Kabuki syndrome." Am. J. Med. Genet.. 2002;108(2):160-3. Abstract
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