Works matching IS 00099163 AND DT 2023 AND VI 104 AND IP 1
Results: 16
Detection of male 2+0 and 1+0 carriers for spinal muscular atrophy by digital PCR.
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- Clinical Genetics, 2023, v. 104, n. 1, p. 90, doi. 10.1111/cge.14342
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Survival, surveillance, and genetics in patients with Peutz–Jeghers syndrome: A nationwide study.
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- Clinical Genetics, 2023, v. 104, n. 1, p. 81, doi. 10.1111/cge.14337
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- Article
Issue Information.
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- Clinical Genetics, 2023, v. 104, n. 1, p. 1, doi. 10.1111/cge.14157
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- Article
A recurrent de novo variant in NUSAP1 escapes nonsense‐mediated decay and leads to microcephaly, epilepsy, and developmental delay.
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- Clinical Genetics, 2023, v. 104, n. 1, p. 73, doi. 10.1111/cge.14335
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Evolution of clinical and radiological presentations of spondyloepimetaphyseal dysplasia, RPL13‐related: Description of 11 further cases.
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- Clinical Genetics, 2023, v. 104, n. 1, p. 100, doi. 10.1111/cge.14351
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Direct‐to‐consumer genetic tests providing health risk information: A systematic review of consequences for consumers and health services.
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- Clinical Genetics, 2023, v. 104, n. 1, p. 3, doi. 10.1111/cge.14332
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The genetics of incontinence: A scoping review.
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- Clinical Genetics, 2023, v. 104, n. 1, p. 22, doi. 10.1111/cge.14331
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Clinical heterogeneity of NADSYN1‐associated VCRL syndrome.
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- Clinical Genetics, 2023, v. 104, n. 1, p. 114, doi. 10.1111/cge.14328
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Broad spectrum of anomalies including quadricuspid aortic valve associated with a novel frameshift SALL4 variant.
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- Clinical Genetics, 2023, v. 104, n. 1, p. 133, doi. 10.1111/cge.14307
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Morphological and genetic causes of fetal cardiomyopathies.
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- Clinical Genetics, 2023, v. 104, n. 1, p. 63, doi. 10.1111/cge.14333
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Hereditary cancer predispositions: Comparison of multigene panel sequencing on fresh‐frozen breast/ovarian tumor versus blood.
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- Clinical Genetics, 2023, v. 104, n. 1, p. 107, doi. 10.1111/cge.14327
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The prevalence and phenotypic range associated with biallelic PKDCC variants.
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- Clinical Genetics, 2023, v. 104, n. 1, p. 121, doi. 10.1111/cge.14324
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Two new cases with novel pathogenic variants reflecting the clinical diversity of Schaaf‐Yang syndrome.
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- Clinical Genetics, 2023, v. 104, n. 1, p. 127, doi. 10.1111/cge.14320
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- Article
Further case of enlarged spinal nerve roots in KRAS‐related Noonan syndrome.
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- Clinical Genetics, 2023, v. 104, n. 1, p. 136, doi. 10.1111/cge.14308
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- Article
A novel de novo variant in the PHF21A causes craniofacial abnormalities, intellectual disability and skeletal manifestations.
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- Clinical Genetics, 2023, v. 104, n. 1, p. 142, doi. 10.1111/cge.14317
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- Article
Constitutional mosaicism for a pathogenic variant in MEN1 associated with multiple endocrine neoplasia type I syndrome.
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- Clinical Genetics, 2023, v. 104, n. 1, p. 139, doi. 10.1111/cge.14314
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- Article