about
SOBP is mutated in syndromic and nonsyndromic intellectual disability and is highly expressed in the brain limbic systemPositional cloning uncovers mutations in PLCE1 responsible for a nephrotic syndrome variant that may be reversibleBiallelic SZT2 mutations cause infantile encephalopathy with epilepsy and dysmorphic corpus callosumG protein-coupled receptor-dependent development of human frontal cortexAn autosomal recessive form of bilateral frontoparietal polymicrogyria maps to chromosome 16q12.2-21Terminal osseous dysplasia is caused by a single recurrent mutation in the FLNA geneEthnically diverse causes of Walker-Warburg syndrome (WWS): FCMD mutations are a more common cause of WWS outside of the Middle EasteIF2γ mutation that disrupts eIF2 complex integrity links intellectual disability to impaired translation initiation.A truncating mutation of TRAPPC9 is associated with autosomal-recessive intellectual disability and postnatal microcephalyYunis-Varon syndrome: further delineation of the phenotypeDe Novo Mutations in CHD4, an ATP-Dependent Chromatin Remodeler Gene, Cause an Intellectual Disability Syndrome with Distinctive DysmorphismsIdentification of a novel mutation in the PNLIP gene in two brothers with congenital pancreatic lipase deficiencyHomozygous mutations in VAMP1 cause a presynaptic congenital myasthenic syndromeNew syndrome of congenital circumferential skin folds associated with multiple congenital anomalies.Fragile-X carrier screening and the prevalence of premutation and full-mutation carriers in Israel.Multiple congenital anomalies-hypotonia-seizures syndrome is caused by a mutation in PIGN.Transient infantile hypertriglyceridemia, fatty liver, and hepatic fibrosis caused by mutated GPD1, encoding glycerol-3-phosphate dehydrogenase 1Exome sequencing reveals SYCE1 mutation associated with autosomal recessive primary ovarian insufficiency.Keppen-Lubinsky syndrome is caused by mutations in the inwardly rectifying K+ channel encoded by KCNJ6.Genotype-phenotype correlation in 22q11.2 deletion syndrome.tRNA splicing endonuclease mutations cause pontocerebellar hypoplasia.Autosomal recessive ichthyosis with hypotrichosis caused by a mutation in ST14, encoding type II transmembrane serine protease matriptase.Deficiency for the ubiquitin ligase UBE3B in a blepharophimosis-ptosis-intellectual-disability syndrome.Genetics of autosomal recessive non-syndromic mental retardation: recent advances.Mutations in PIK3R1 cause SHORT syndromeGenetic heterogeneity and consanguinity lead to a "double hit": homozygous mutations of MYO7A and PDE6B in a patient with retinitis pigmentosa.Loss-of-function mutations in ATP6V0A2 impair vesicular trafficking, tropoelastin secretion and cell survivalMutations in GMPPA cause a glycosylation disorder characterized by intellectual disability and autonomic dysfunction.RIN2 deficiency results in macrocephaly, alopecia, cutis laxa, and scoliosis: MACS syndromeClinical approaches to genetic mental retardation.Dominant mutations in GRHL3 cause Van der Woude Syndrome and disrupt oral periderm developmentExpanding the clinical and mutational spectrum of Kaufman oculocerebrofacial syndrome with biallelic UBE3B mutations.Genetic carrier screening for spinal muscular atrophy and spinal muscular atrophy with respiratory distress 1 in an isolated population in Israel.Homozygous MED25 mutation implicated in eye-intellectual disability syndrome.Branchial cyst, sensorineural deafness, congenital heart defect, and skeletal abnormalities: Branchio-oto-cardio-skeletal (BOCS) syndrome?Phenotypic psychiatric characterization of children with Williams syndrome and response of those with ADHD to methylphenidate treatment.Recognition of the Cornelia de Lange syndrome phenotype with facial dysmorphology novel analysis.Expanding the mutational spectrum of CRLF1 in Crisponi/CISS1 syndrome.De novo SCN1A mutations are a major cause of severe myoclonic epilepsy of infancy.An Israeli Arab patient with a de novo TNFRSF1A mutation causing tumor necrosis factor receptor-associated periodic syndrome.
P50
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P50
description
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հետազոտող
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Lina Basel-Vanagaite
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Lina Basel-Vanagaite
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Lina Basel-Vanagaite
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Lina Basel-Vanagaite
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Lina Basel-Vanagaite
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Lina Basel-Vanagaite
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Lina Basel-Vanagaite
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Lina Basel-Vanagaite
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Lina Basel-Vanagaite
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Lina Basel-Vanagaite
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Vanagaite l
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Lina Basel-Vanagaite
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Lina Basel-Vanagaite
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Lina Basel-Vanagaite
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Lina Basel-Vanagaite
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Lina Basel-Vanagaite
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P106
P1153
6603579848
P21
P31
P496
0000-0002-9076-8157