Variability of non‐lethal Fowler syndrome phenotype associated with FLVCR2 variants.
- Published in:
- Clinical Genetics, 2020, v. 98, n. 5, p. 520, doi. 10.1111/cge.13838
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- Publication type:
- Article
Works matching IS 00099163 AND DT 2020 AND VI 98 AND IP 5
Results: 14
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MYORG gene disease‐causing variants in a family with primary familial brain calcification presenting with stroke‐like episodes.
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- Clinical Genetics, 2020, v. 98, n. 5, p. 517, doi. 10.1111/cge.13836
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- Publication type:
- Article
3
Novel pathogenic EIF2S3 missense variants causing clinically variable MEHMO syndrome with impaired eIF2γ translational function, and literature review.
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- Clinical Genetics, 2020, v. 98, n. 5, p. 507, doi. 10.1111/cge.13831
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- Publication type:
- Article
4
Exome sequencing in patients with microphthalmia, anophthalmia, and coloboma (MAC) from a consanguineous population.
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- Clinical Genetics, 2020, v. 98, n. 5, p. 499, doi. 10.1111/cge.13830
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- Publication type:
- Article
5
Homozygous TAF1C variants are associated with a novel childhood‐onset neurological phenotype.
- Published in:
- Clinical Genetics, 2020, v. 98, n. 5, p. 493, doi. 10.1111/cge.13827
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- Publication type:
- Article
6
Mutation spectrum and polygenic score in German patients with familial hypercholesterolemia.
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- Clinical Genetics, 2020, v. 98, n. 5, p. 457, doi. 10.1111/cge.13826
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- Publication type:
- Article
7
Bifid nose as the sole manifestation of BNAR syndrome, a FREM1‐related condition.
- Published in:
- Clinical Genetics, 2020, v. 98, n. 5, p. 515, doi. 10.1111/cge.13821
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- Article
8
Issue Information.
- Published in:
- Clinical Genetics, 2020, v. 98, n. 5, p. 421, doi. 10.1111/cge.13577
- Publication type:
- Article
9
Micro and Martsolf syndromes in 34 new patients: Refining the phenotypic spectrum and further molecular insights.
- Published in:
- Clinical Genetics, 2020, v. 98, n. 5, p. 445, doi. 10.1111/cge.13825
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- Article
10
Evidence of the milder phenotypic spectrum of c.1582G>A PIGT variant: Delineation based on seven novel Polish patients.
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- Clinical Genetics, 2020, v. 98, n. 5, p. 468, doi. 10.1111/cge.13822
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- Article
11
Compound heterozygous splicing CDON variants result in isolated ocular coloboma.
- Published in:
- Clinical Genetics, 2020, v. 98, n. 5, p. 486, doi. 10.1111/cge.13824
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- Publication type:
- Article
12
Whole‐exome sequencing in adult patients with developmental and epileptic encephalopathy: It is never too late.
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- Clinical Genetics, 2020, v. 98, n. 5, p. 477, doi. 10.1111/cge.13823
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- Publication type:
- Article
13
Next‐generation sequencing approaches and challenges in the diagnosis of developmental anomalies and intellectual disability.
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- Clinical Genetics, 2020, v. 98, n. 5, p. 433, doi. 10.1111/cge.13764
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- Publication type:
- Article
14
Expanding the clinical spectrum of Fowler syndrome: Three siblings with survival into adulthood and systematic review of the literature.
- Published in:
- Clinical Genetics, 2020, v. 98, n. 5, p. 423, doi. 10.1111/cge.13761
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- Publication type:
- Article