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Mutations in the IRBIT domain of ITPR1 are a frequent cause of autosomal dominant nonprogressive congenital ataxia.
- Published in:
- Clinical Genetics, 2017, v. 91, n. 1, p. 86, doi. 10.1111/cge.12783
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- Article
Social anxiety and autism spectrum traits among adult FMR1 premutation carriers.
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- Clinical Genetics, 2017, v. 91, n. 1, p. 111, doi. 10.1111/cge.12791
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- Article
Phenotype-driven molecular autopsy for sudden cardiac death.
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- Clinical Genetics, 2017, v. 91, n. 1, p. 22, doi. 10.1111/cge.12778
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- Article
Homozygous PKP2 deletion associated with neonatal left ventricle noncompaction.
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- Clinical Genetics, 2017, v. 91, n. 1, p. 126, doi. 10.1111/cge.12780
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- Article
L1 syndrome diagnosis complemented with functional analysis of L1CAM variants located to the two N-terminal Ig-like domains.
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- Clinical Genetics, 2017, v. 91, n. 1, p. 115, doi. 10.1111/cge.12763
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- Article
The homozygous R504C mutation in MTO1 gene is responsible for ONCE syndrome.
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- Clinical Genetics, 2017, v. 91, n. 1, p. 46, doi. 10.1111/cge.12815
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- Article
Novel pathogenic SLC25A46 splice-site mutation causes an optic atrophy spectrum disorder.
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- Clinical Genetics, 2017, v. 91, n. 1, p. 121, doi. 10.1111/cge.12774
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- Article
Spondyloepimetaphyseal dysplasia with neurodegeneration associated with AIFM1 mutation - a novel phenotype of the mitochondrial disease.
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- Clinical Genetics, 2017, v. 91, n. 1, p. 30, doi. 10.1111/cge.12792
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- Article
Whole gene duplication of SCN2A and SCN3A is associated with neonatal seizures and a normal intellectual development.
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- Clinical Genetics, 2017, v. 91, n. 1, p. 106, doi. 10.1111/cge.12797
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- Article
Advanced diagnostic genetic testing in inherited retinal disease: experience from a single tertiary referral centre in the UK National Health Service.
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- Clinical Genetics, 2017, v. 91, n. 1, p. 38, doi. 10.1111/cge.12798
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- Article
NSD1 duplication in Silver-Russell syndrome ( SRS): molecular karyotyping in patients with SRS features.
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- Clinical Genetics, 2017, v. 91, n. 1, p. 73, doi. 10.1111/cge.12803
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- Article
Autosomal recessive mutations in THOC6 cause intellectual disability: syndrome delineation requiring forward and reverse phenotyping.
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- Clinical Genetics, 2017, v. 91, n. 1, p. 92, doi. 10.1111/cge.12793
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- Article
Utility of clinical high-depth next generation sequencing for somatic variant detection in the PIK3CA-related overgrowth spectrum.
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- Clinical Genetics, 2017, v. 91, n. 1, p. 79, doi. 10.1111/cge.12819
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- Article
Identification of C12orf4 as a gene for autosomal recessive intellectual disability.
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- Clinical Genetics, 2017, v. 91, n. 1, p. 100, doi. 10.1111/cge.12821
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Recent Advances in Imprinting Disorders.
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- Clinical Genetics, 2017, v. 91, n. 1, p. 3, doi. 10.1111/cge.12827
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Choices of incidental findings of individuals undergoing genome wide sequencing, a single center's experience.
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- Clinical Genetics, 2017, v. 91, n. 1, p. 137, doi. 10.1111/cge.12829
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CLOVES syndrome: review of a PIK3CA-related overgrowth spectrum ( PROS).
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- Clinical Genetics, 2017, v. 91, n. 1, p. 14, doi. 10.1111/cge.12832
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- Article
Genetic risk factors for venous thrombosis in women using combined oral contraceptives: update of the PILGRIM study.
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- Clinical Genetics, 2017, v. 91, n. 1, p. 131, doi. 10.1111/cge.12833
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- Article
The clinical spectrum of female epilepsy patients with PCDH19 mutations in a Chinese population.
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- Clinical Genetics, 2017, v. 91, n. 1, p. 54, doi. 10.1111/cge.12846
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- Article
Integration of 60,000 exomes and ACMG guidelines question the role of Catecholaminergic Polymorphic Ventricular Tachycardia-associated variants.
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- Clinical Genetics, 2017, v. 91, n. 1, p. 63, doi. 10.1111/cge.12847
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Issue Information - Editorial Board.
- Published in:
- Clinical Genetics, 2017, v. 91, n. 1, p. 1, doi. 10.1111/cge.12934
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- Article