Found: 17
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Biallelic intragenic tandem duplication of CPLANE1 in Joubert syndrome: A case report.
- Published in:
- Clinical Genetics, 2023, v. 103, n. 4, p. 448, doi. 10.1111/cge.14306
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- Article
Genetic spectrum and clinical features in a cohort of Chinese patients with isolated dystonia.
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- Clinical Genetics, 2023, v. 103, n. 4, p. 459, doi. 10.1111/cge.14298
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- Article
Mosaic variegated aneuploidy syndrome 2 with biallelic novel CEP57 splice site variation in Indian siblings: Expanding the clinical and molecular spectrum.
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- Clinical Genetics, 2023, v. 103, n. 4, p. 478, doi. 10.1111/cge.14297
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- Article
Imagawa–Matsumoto syndrome: SUZ12‐related overgrowth disorder.
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- Clinical Genetics, 2023, v. 103, n. 4, p. 383, doi. 10.1111/cge.14296
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- Article
Familial transmission of chromoanagenesis leads to unpredictable unbalanced rearrangements through meiotic recombination.
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- Clinical Genetics, 2023, v. 103, n. 4, p. 401, doi. 10.1111/cge.14291
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- Article
Expanding the spectrum of EEF1D neurodevelopmental disorders: Biallelic variants in the guanine exchange domain.
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- Clinical Genetics, 2023, v. 103, n. 4, p. 484, doi. 10.1111/cge.14290
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- Article
Molecular basis of carotid body tumor and associated clinical features in Japan identified by genomic, immunohistochemical, and clinical analyses.
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- Clinical Genetics, 2023, v. 103, n. 4, p. 466, doi. 10.1111/cge.14294
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- Article
Novo pathogenic variations of NLRP7 increasing the risk of gestational trophoblastic neoplasia.
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- Clinical Genetics, 2023, v. 103, n. 4, p. 498, doi. 10.1111/cge.14288
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- Article
ROSAH syndrome mimicking chronic uveitis.
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- Clinical Genetics, 2023, v. 103, n. 4, p. 453, doi. 10.1111/cge.14286
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- Article
A novel PLS1 c.981+1G>A variant causes autosomal‐dominant hereditary hearing loss in a family.
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- Clinical Genetics, 2023, v. 103, n. 4, p. 413, doi. 10.1111/cge.14283
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- Article
Chronic progressive external ophthalmoplegia plus syndrome due to homozygous missense variant in TOP3A gene.
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- Clinical Genetics, 2023, v. 103, n. 4, p. 492, doi. 10.1111/cge.14287
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- Article
Strategies for activity analysis of single nucleotide polymorphisms associated with human diseases.
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- Clinical Genetics, 2023, v. 103, n. 4, p. 392, doi. 10.1111/cge.14282
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- Article
Novel homozygous variant of CCIN causes male infertility owing to the abnormal sperm head with a nuclear subsidence phenotype.
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- Clinical Genetics, 2023, v. 103, n. 4, p. 495, doi. 10.1111/cge.14281
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- Article
Novel homozygous variant in ARL2BP associated with retinitis pigmentosa, situs inversus, and male infertility in a Chinese patient.
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- Clinical Genetics, 2023, v. 103, n. 4, p. 472, doi. 10.1111/cge.14278
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- Article
Evaluation of out‐of‐pocket pay genetic testing in a publicly funded healthcare system.
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- Clinical Genetics, 2023, v. 103, n. 4, p. 424, doi. 10.1111/cge.14276
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- Article
Genetic and clinical features of neonatal and early onset diabetes mellitus in a tertiary center cohort in Brazil.
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- Clinical Genetics, 2023, v. 103, n. 4, p. 434, doi. 10.1111/cge.14279
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- Article
Issue Information.
- Published in:
- Clinical Genetics, 2023, v. 103, n. 4, p. 381, doi. 10.1111/cge.14154
- Publication type:
- Article