Works matching IS 00099163 AND DT 2020 AND VI 98 AND IP 1
Results: 16
HNRNPH1‐related syndromic intellectual disability: Seven additional cases suggestive of a distinct syndromic neurodevelopmental syndrome.
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- Clinical Genetics, 2020, v. 98, n. 1, p. 91, doi. 10.1111/cge.13765
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Genetic Consultations in the Newborn.
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- Clinical Genetics, 2020, v. 98, n. 1, p. 104, doi. 10.1111/cge.13766
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Complete resolution of epileptic spasms with vigabatrin in a patient with 3‐methylglutaconic aciduria caused by TIMM50 gene mutation.
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- Clinical Genetics, 2020, v. 98, n. 1, p. 102, doi. 10.1111/cge.13763
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Epidermolysis bullosa with congenital absence of skin: Clinical and genetic characterization of a 23‐case series.
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- Clinical Genetics, 2020, v. 98, n. 1, p. 99, doi. 10.1111/cge.13762
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ADAMTS19‐associated heart valve defects: Novel genetic variants consolidating a recognizable cardiac phenotype.
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- Clinical Genetics, 2020, v. 98, n. 1, p. 56, doi. 10.1111/cge.13760
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Deletions of specific exons of FHOD3 detected by next‐generation sequencing are associated with hypertrophic cardiomyopathy.
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- Clinical Genetics, 2020, v. 98, n. 1, p. 86, doi. 10.1111/cge.13759
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PDCD6IP, encoding a regulator of the ESCRT complex, is mutated in microcephaly.
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- Clinical Genetics, 2020, v. 98, n. 1, p. 80, doi. 10.1111/cge.13756
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Further delineation of the female phenotype with KDM5C disease causing variants: 19 new individuals and review of the literature.
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- Clinical Genetics, 2020, v. 98, n. 1, p. 43, doi. 10.1111/cge.13755
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Comprehensive molecular analysis of 61 Egyptian families with hereditary nonsyndromic hearing loss.
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- Clinical Genetics, 2020, v. 98, n. 1, p. 32, doi. 10.1111/cge.13754
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Kosaki overgrowth syndrome: A novel pathogenic variant in PDGFRB and expansion of the phenotype including cerebrovascular complications.
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- Clinical Genetics, 2020, v. 98, n. 1, p. 19, doi. 10.1111/cge.13752
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VEGFA variants as prognostic markers for the retinopathy in pseudoxanthoma elasticum.
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- Clinical Genetics, 2020, v. 98, n. 1, p. 74, doi. 10.1111/cge.13751
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Overlapping phenotypes between SHORT and Noonan syndromes in patients with PTPN11 pathogenic variants.
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- Clinical Genetics, 2020, v. 98, n. 1, p. 10, doi. 10.1111/cge.13746
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A novel homozygous variant in NLRP5 is associate with human early embryonic arrest in a consanguineous Chinese family.
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- Clinical Genetics, 2020, v. 98, n. 1, p. 69, doi. 10.1111/cge.13744
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A nonsense variant in NME5 causes human primary ciliary dyskinesia with radial spoke defects.
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- Clinical Genetics, 2020, v. 98, n. 1, p. 64, doi. 10.1111/cge.13742
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DNA methylation changes in cystic fibrosis: Cause or consequence?
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- Clinical Genetics, 2020, v. 98, n. 1, p. 3, doi. 10.1111/cge.13731
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Issue Information – Editorial Board.
- Published in:
- Clinical Genetics, 2020, v. 98, n. 1, p. 1, doi. 10.1111/cge.13573
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- Article