Works matching IS 00099163 AND DT 2021 AND VI 100 AND IP 3
Results: 17
Expanding the phenotype of SETD5‐related disorder and presenting a novel association with bone fragility.
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- Clinical Genetics, 2021, v. 100, n. 3, p. 352, doi. 10.1111/cge.14014
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De novo pathogenic DHX30 variants in two cases.
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- Clinical Genetics, 2021, v. 100, n. 3, p. 350, doi. 10.1111/cge.14013
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PKD2 gene variants in Chinese patients with autosomal dominant polycystic kidney disease.
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- Clinical Genetics, 2021, v. 100, n. 3, p. 340, doi. 10.1111/cge.14008
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The importance of precision medicine in modern molecular oncology.
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- Clinical Genetics, 2021, v. 100, n. 3, p. 248, doi. 10.1111/cge.13998
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Isolated‐ and Beckwith‐Wiedemann syndrome related‐ lateralised overgrowth (hemihypertrophy): Clinical and molecular correlations in 94 individuals.
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- Clinical Genetics, 2021, v. 100, n. 3, p. 292, doi. 10.1111/cge.13997
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Novel CDK10 variants with multicystic dysplastic kidney, left ventricular non‐compaction, and a solitary median maxillary central incisor.
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- Clinical Genetics, 2021, v. 100, n. 3, p. 348, doi. 10.1111/cge.13996
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A retrospective analysis of growth hormone therapy in children with Schaaf–Yang syndrome.
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- Clinical Genetics, 2021, v. 100, n. 3, p. 298, doi. 10.1111/cge.14000
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Current and experimental therapeutics for Fabry disease.
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- Clinical Genetics, 2021, v. 100, n. 3, p. 239, doi. 10.1111/cge.13999
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Patients with acephalic spermatozoa syndrome linked to novel TSGA10/PMFBP1 variants have favorable pregnancy outcomes from intracytoplasmic sperm injection.
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- Clinical Genetics, 2021, v. 100, n. 3, p. 334, doi. 10.1111/cge.14007
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Bi‐allelic loss of ERGIC1 causes relatively mild arthrogryposis.
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- Clinical Genetics, 2021, v. 100, n. 3, p. 329, doi. 10.1111/cge.14004
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Homozygous missense VPS16 variant is associated with a novel disease, resembling mucopolysaccharidosis‐plus syndrome in two siblings.
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- Clinical Genetics, 2021, v. 100, n. 3, p. 308, doi. 10.1111/cge.14002
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Copy number variation analysis implicates novel pathways in patients with oculo‐auriculo‐vertebral‐spectrum and congenital heart defects.
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- Clinical Genetics, 2021, v. 100, n. 3, p. 268, doi. 10.1111/cge.13994
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Pathogenic variants of ATG4D in infertile men with non‐obstructive azoospermia identified using whole‐exome sequencing.
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- Clinical Genetics, 2021, v. 100, n. 3, p. 280, doi. 10.1111/cge.13995
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A homozygous missense mutation in TBPL2 is associated with oocyte maturation arrest and degeneration.
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- Clinical Genetics, 2021, v. 100, n. 3, p. 324, doi. 10.1111/cge.13993
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COG1‐congenital disorders of glycosylation: Milder presentation and review.
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- Clinical Genetics, 2021, v. 100, n. 3, p. 318, doi. 10.1111/cge.13980
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Spinocerebellar ataxia type 2 from an evolutionary perspective: Systematic review and meta‐analysis.
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- Clinical Genetics, 2021, v. 100, n. 3, p. 258, doi. 10.1111/cge.13978
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- Article
Issue Information.
- Published in:
- Clinical Genetics, 2021, v. 100, n. 3, p. 237, doi. 10.1111/cge.13785
- Publication type:
- Article