Works matching IS 00099163 AND DT 2022 AND VI 101 AND IP 2
Results: 17
Mitochondrial developmental encephalopathy with bilateral optic neuropathy related to homozygous variants in IMMT gene.
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- Clinical Genetics, 2022, v. 101, n. 2, p. 233, doi. 10.1111/cge.14093
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Corrigendum.
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- Clinical Genetics, 2022, v. 101, n. 2, p. 272, doi. 10.1111/cge.14092
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- Article
Utility of clinical exome sequencing in progressive myoclonus epilepsy syndromes: An exploratory analysis.
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- Clinical Genetics, 2022, v. 101, n. 2, p. 270, doi. 10.1111/cge.14090
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Early psychosis in Thauvin‐Robinet‐Faivre syndrome, a complication of the disease?
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- Clinical Genetics, 2022, v. 101, n. 2, p. 267, doi. 10.1111/cge.14089
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Bi‐allelic variants in MDH2: Expanding the clinical phenotype.
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- Clinical Genetics, 2022, v. 101, n. 2, p. 260, doi. 10.1111/cge.14088
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Expanding the spectrum of syndromic PPP2R3C‐related XY gonadal dysgenesis to XX gonadal dysgenesis.
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- Clinical Genetics, 2022, v. 101, n. 2, p. 221, doi. 10.1111/cge.14086
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TAB2 variants cause cardiovascular heart disease, connective tissue disorder, and developmental delay.
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- Clinical Genetics, 2022, v. 101, n. 2, p. 214, doi. 10.1111/cge.14085
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DYRK1B haploinsufficiency in a family with metabolic syndrome and abnormal cognition.
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- Clinical Genetics, 2022, v. 101, n. 2, p. 265, doi. 10.1111/cge.14084
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Mono‐allelic loss of YTHDF3 and neurodevelopmental disorder: clinical features of four individuals with 8q12.3 deletions.
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- Clinical Genetics, 2022, v. 101, n. 2, p. 208, doi. 10.1111/cge.14083
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Expanding the genotypic spectrum of TXNL4A variants in Burn‐McKeown syndrome.
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- Clinical Genetics, 2022, v. 101, n. 2, p. 255, doi. 10.1111/cge.14082
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Biallelic ZNFX1 variants are associated with a spectrum of immuno‐hematological abnormalities.
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- Clinical Genetics, 2022, v. 101, n. 2, p. 247, doi. 10.1111/cge.14081
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A SPIDR homozygous nonsense pathogenic variant in isolated primary ovarian insufficiency with chromosomal instability.
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- Clinical Genetics, 2022, v. 101, n. 2, p. 242, doi. 10.1111/cge.14080
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First case series of Polish patients with cerebrotendinous xanthomatosis and systematic review of cases from the 21st century.
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- Clinical Genetics, 2022, v. 101, n. 2, p. 190, doi. 10.1111/cge.14079
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The broader phenotypic spectrum of congenital caudal abnormalities associated with mutations in the caudal type homeobox 2 gene.
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- Clinical Genetics, 2022, v. 101, n. 2, p. 183, doi. 10.1111/cge.14076
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Psychosocial interventions and needs among individuals and families with Li‐Fraumeni syndrome: A scoping review.
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- Clinical Genetics, 2022, v. 101, n. 2, p. 161, doi. 10.1111/cge.14042
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Facioscapulohumeral muscular dystrophy—Reproductive counseling, pregnancy, and delivery in a complex multigenetic disease.
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- Clinical Genetics, 2022, v. 101, n. 2, p. 149, doi. 10.1111/cge.14031
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Issue Information.
- Published in:
- Clinical Genetics, 2022, v. 101, n. 2, p. 147, doi. 10.1111/cge.13982
- Publication type:
- Article