Found: 16
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Progressive ataxia, ophthalmoparesis, and hypogonadotropic hypogonadism in a family with a novel variant in the KIFBP gene.
- Published in:
- Clinical Genetics, 2024, v. 105, n. 2, p. 228, doi. 10.1111/cge.14448
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- Article
De novo enhancer deletion of LMX1B produces a mild nail‐patella clinical phenotype.
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- Clinical Genetics, 2024, v. 105, n. 2, p. 214, doi. 10.1111/cge.14447
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- Article
Clinical findings in individuals with duplication of genes associated with X‐linked intellectual disability.
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- Clinical Genetics, 2024, v. 105, n. 2, p. 173, doi. 10.1111/cge.14445
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- Article
Perspectives of carriers of X‐linked retinal diseases on genetic testing and gene therapy: A global survey.
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- Clinical Genetics, 2024, v. 105, n. 2, p. 150, doi. 10.1111/cge.14442
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- Article
Rigorous evaluation of genetic and epigenetic effects on clinical laboratory measurements using Japanese monozygotic twins.
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- Clinical Genetics, 2024, v. 105, n. 2, p. 159, doi. 10.1111/cge.14443
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- Article
Gene mutations as predictors of central lymph mode metastasis in cN0 PTC: A meta‐analysis.
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- Clinical Genetics, 2024, v. 105, n. 2, p. 130, doi. 10.1111/cge.14456
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- Article
Association between genetic variants of transmembrane transporters and susceptibility to anthracycline‐induced cardiotoxicity: Current understanding and existing evidence.
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- Clinical Genetics, 2024, v. 105, n. 2, p. 115, doi. 10.1111/cge.14452
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- Article
A splice donor variant of GAS8 induces structural disorganization of the axoneme in sperm flagella and leads to nonsyndromic male infertility.
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- Clinical Genetics, 2024, v. 105, n. 2, p. 220, doi. 10.1111/cge.14450
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- Article
The third case of Marbach‐Rustad progeroid syndrome caused by a de novo LEMD2 variant.
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- Clinical Genetics, 2024, v. 105, n. 2, p. 209, doi. 10.1111/cge.14441
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- Article
Genetic and phenotypic findings in 34 novel Spanish patients with DDX3X neurodevelopmental disorder.
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- Clinical Genetics, 2024, v. 105, n. 2, p. 140, doi. 10.1111/cge.14440
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- Article
A homozygous frameshift variant expands the clinical spectrum of SAMD9 gene defects.
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- Clinical Genetics, 2024, v. 105, n. 2, p. 202, doi. 10.1111/cge.14439
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- Article
Adding to the evidence of gene‐disease association of RAP1B and syndromic thrombocytopenia.
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- Clinical Genetics, 2024, v. 105, n. 2, p. 196, doi. 10.1111/cge.14438
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- Article
Issue Information.
- Published in:
- Clinical Genetics, 2024, v. 105, n. 2, p. 113, doi. 10.1111/cge.14367
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- Article
Variants in DOK7 results in fetal akinesia deformation sequence: A case report and review of literature.
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- Clinical Genetics, 2024, v. 105, n. 2, p. 226, doi. 10.1111/cge.14431
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- Article
A novel non‐recurrent CNV deletion involving TBX4 and leaving TBX2 intact causes congenital alveolar dysplasia.
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- Clinical Genetics, 2024, v. 105, n. 2, p. 190, doi. 10.1111/cge.14428
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- Article
DNA‐pools targeted‐sequencing as a robust cost‐effective method to detect rare variants: Application to dilated cardiomyopathy genetic diagnosis.
- Published in:
- Clinical Genetics, 2024, v. 105, n. 2, p. 185, doi. 10.1111/cge.14427
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- Article