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Mutations in the cholesterol transporter gene ABCA5 are associated with excessive hair overgrowthCharacterization of the chromosome 1q41q42.12 region, and the candidate gene DISP1, in patients with CDHMolecular mechanism for duplication 17p11.2- the homologous recombination reciprocal of the Smith-Magenis microdeletionPhenotypic Heterogeneity of Neutropenia and Gastrointestinal Illness Associated with G6PC3 Founder Mutation.Tetraphocomelia in the syndrome of thrombocytopenia with absent radii (TAR syndrome).New diagnosis of atypical ataxia-telangiectasia in a 17-year-old boy with T-cell acute lymphoblastic leukemia and a novel ATM mutationPreliminary definition of a "critical region" of chromosome 13 in q32: report of 14 cases with 13q deletions and review of the literature.DAX1 mutations map to putative structural domains in a deduced three-dimensional model.Tetratricopeptide repeat domain 7A (TTC7A) mutation in a newborn with multiple intestinal atresia and combined immunodeficiency.A mutation abolishing the ZMPSTE24 cleavage site in prelamin A causes a progeroid disorderDe novo mutations in PURA are associated with hypotonia and developmental delayCoding mutations in p57KIP2 are present in some cases of Beckwith-Wiedemann syndrome but are rare or absent in Wilms tumorsMolecular definition of 22q11 deletions in 151 velo-cardio-facial syndrome patients.Mutations in FKBP10, which result in Bruck syndrome and recessive forms of osteogenesis imperfecta, inhibit the hydroxylation of telopeptide lysines in bone collagen.Congenital hypothyroidism and thyroid dyshormonogenesis: a case report of siblings with a newly identified mutation in thyroperoxidase.Germline De Novo Mutations in GNB1 Cause Severe Neurodevelopmental Disability, Hypotonia, and Seizures.Homozygosity for multiple contiguous single-nucleotide polymorphisms as an indicator of large heterozygous deletions: identification of a novel heterozygous 8-kb intragenic deletion (IVS7-19 to IVS15-17) in a patient with glycogen storage disease tyMutations in GMPPA cause a glycosylation disorder characterized by intellectual disability and autonomic dysfunction.Incidence of aortic root dilatation in pectus excavatum and its association with Marfan syndrome.Networks of attention in children with the 22q11 deletion syndrome.Neuropsychological characteristics of children with the 22q11 Deletion Syndrome: a descriptive analysis.The contribution of de novo and rare inherited copy number changes to congenital heart disease in an unselected sample of children with conotruncal defects or hypoplastic left heart diseaseThe genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies.Megacystis-microcolon-intestinal hypoperistalsis syndrome: case report and review of prenatal ultrasonographic findings.Expanding the clinical and mutational spectrum of Kaufman oculocerebrofacial syndrome with biallelic UBE3B mutations.Clinical spectrum of capillary malformation-arteriovenous malformation syndrome presenting to a pediatric dermatology practice: a retrospective study.The expanding clinical phenotype of Bosch-Boonstra-Schaaf optic atrophy syndrome: 20 new cases and possible genotype-phenotype correlations.Rare inheritance of Leri-Weill Syndrome due to crossover of short stature Homeobox Gene (SHOX) Deletions between X and Y Chromosomes: a case report.Retinoblastoma presenting in a child with hypomelanosis of Ito.Baller-Gerold syndrome craniosynostosis-radial aplasia syndrome.Mutations in SLC1A4, encoding the brain serine transporter, are associated with developmental delay, microcephaly and hypomyelination.New Insights into the Genetics of Fetal Megacystis: ACTG2 Mutations, Encoding γ-2 Smooth Muscle Actin in Megacystis Microcolon Intestinal Hypoperistalsis Syndrome (Berdon Syndrome).A novel mutation causing pseudohypoparathyroidism 1A with congenital hypothyroidism and osteoma cutis.Disruption of the ATXN1-CIC complex causes a spectrum of neurobehavioral phenotypes in mice and humans.CM-AVM syndrome in a neonate: case report and treatment with a novel flow reduction strategy.Mosaic variegated aneuploidy with microcephaly: a new human mitotic mutant?Identification of six novel mutations in the acid alpha-glucosidase gene in three Spanish patients with infantile onset glycogen storage disease type II (Pompe disease).Nine novel mutations in NR0B1 (DAX1) causing adrenal hypoplasia congenita.Herrmann-Opitz syndrome: report of an affected fetus.Diagnostic exome sequencing in children: A survey of parental understanding, experience and psychological impact.
P50
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P50
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հետազոտող
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Kwame Anyane-Yeboa
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P106
P31
P496
0000-0002-4977-9719