Extrahepatic biliary atresia and associated anomalies: Etiologic heterogeneity suggested by distinctive patterns of associationsTrismus-pseudocamptodactyly syndrome is caused by recurrent mutation of MYH8Peroxisomal acyl-CoA-oxidase deficiency: two new casesA therapeutic trial of pro-methylation dietary supplements in Angelman syndromeThe clinical spectrum of homozygous HOXA1 mutationsMolecular and phenotypic aspects of CHD7 mutation in CHARGE syndromeNTNG1 mutations are a rare cause of Rett syndromeDeltaNp63 knockdown mice: A mouse model for AEC syndromeChromosome 8p23.1 deletions as a cause of complex congenital heart defects and diaphragmatic hernia46,XY disorders of sex development and congenital diaphragmatic hernia: a case with dysmorphic facies, truncus arteriosus, bifid thymus, gut malrotation, rhizomelia, and adactylyOsteogenesis imperfecta: clinical diagnosis, nomenclature and severity assessmentPDZD7 and hearing loss: More than just a modifierDevelopment of the pharyngeal archesA novel homozygous ERCC5 truncating mutation in a family with prenatal arthrogryposis--further evidence of genotype-phenotype correlationDonor splice-site mutation in CUL4B is likely cause of X-linked intellectual disabilityTruncating mutations in the last exon of NOTCH3 cause lateral meningocele syndromePhenotypic manifestations of MECP2 mutations in classical and atypical Rett syndromeA de novo 14q12q13.3 interstitial deletion in a patient affected by a severe neurodevelopmental disorder of unknown originAarskog-Scott syndrome: clinical update and report of nine novel mutations of the FGD1 gene22q13.3 deletion syndrome: clinical and molecular analysis using array CGHFumarase deficiency caused by homozygous P131R mutation and paternal partial isodisomy of chromosome 1GAPO syndrome: Three new Brazilian cases, additional osseous manifestations, and review of the literatureChromosomal microarray analysis (CMA) detects a large X chromosome deletion including FMR1, FMR2, and IDS in a female patient with mental retardation.Detection of a de novo interstitial 2q microdeletion by CGH microarray analysis in a patient with limb malformations, microcephaly and mental retardation.dup(8p)/del(8q) recombinant chromosome in a girl with hepatic focal nodular hyperplasia.Oculo-auriculo-vertebral spectrum: associated anomalies, functional deficits and possible developmental risk factors.Fortuitous detection of a submicroscopic deletion at 1q25 in a girl with Cornelia-de Lange syndrome carrying t(5;13)(p13.1;q12.1) by array-based comparative genomic hybridization.Esophageal atresia, hypoplasia of zygomatic complex, microcephaly, cup-shaped ears, congenital heart defect, and mental retardation--new MCA/MR syndrome in two affected sibs and a mildly affected mother?First reported case of intrachromosomal cryptic inv dup del Xp in a boy with developmental retardation.Microcephaly with chorioretinopathy in a brother-sister pair: evidence for germ line mosaicism and further delineation of the ocular phenotype.Mother to son amplification of a small subtelomeric deletion: a new mechanism of familial recurrence in microdeletion syndromes.Co-occurrence of Prader-Willi and Sotos syndromes.Fulminant hepatic failure requiring liver transplantation in 22q13.3 deletion syndrome.Discordant phenotype and sterol biochemistry in Smith-Lemli-Opitz syndrome.Pontocerebellar hypoplasia type 6: A British case with PEHO-like features.Refinement of causative genes in monosomy 1p36 through clinical and molecular cytogenetic characterization of small interstitial deletions.Double-blind therapeutic trial in Angelman syndrome using betaine and folic acid.De novo trisomy 20p of paternal origin.Dandy-Walker complex in a boy with a 5 Mb deletion of region 1q44 due to a paternal t(1;20)(q44;q13.33).Identification of a novel recessive RELN mutation using a homozygous balanced reciprocal translocation.
P1433
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P1433
description
revista científica
@es
revue scientifique
@fr
rivista scientifica
@it
scientific journal
@en
videnskabeligt tidsskrift
@da
vědecký časopis
@cs
wetenschappelijk tijdschrift van John Wiley & Sons
@nl
wissenschaftliche Fachzeitschrift
@de
науковий журнал
@uk
वैज्ञानिक पत्रिका
@hi
name
American Journal of Medical Genetics
@ast
American Journal of Medical Genetics
@da
American Journal of Medical Genetics
@de
American Journal of Medical Genetics
@en
American Journal of Medical Genetics
@es
American Journal of Medical Genetics
@fo
American Journal of Medical Genetics
@fr
American Journal of Medical Genetics
@is
American Journal of Medical Genetics
@it
American Journal of Medical Genetics
@kl
label
American Journal of Medical Genetics
@ast
American Journal of Medical Genetics
@da
American Journal of Medical Genetics
@de
American Journal of Medical Genetics
@en
American Journal of Medical Genetics
@es
American Journal of Medical Genetics
@fo
American Journal of Medical Genetics
@fr
American Journal of Medical Genetics
@is
American Journal of Medical Genetics
@it
American Journal of Medical Genetics
@kl
prefLabel
American Journal of Medical Genetics
@ast
American Journal of Medical Genetics
@da
American Journal of Medical Genetics
@de
American Journal of Medical Genetics
@en
American Journal of Medical Genetics
@es
American Journal of Medical Genetics
@fo
American Journal of Medical Genetics
@fr
American Journal of Medical Genetics
@is
American Journal of Medical Genetics
@it
American Journal of Medical Genetics
@kl
P527
P243
P3181
P4616
P1055
P1160
Am. J. Med. Genet.
P123
P1277
P1476
American Journal of Medical Genetics
@en
P236
P243
P3181
P407
P527
P571
1977-01-01T00:00:00Z
P582
2002-01-01T00:00:00Z