Found: 20
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Mevalonate Kinase-Associated Diseases: Hunting for Phenotype–Genotype Correlation.
- Published in:
- Journal of Clinical Medicine, 2021, v. 10, n. 8, p. 1552, doi. 10.3390/jcm10081552
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- Publication type:
- Article
Stratification of the risk of ovarian dysfunction by studying the complexity of intermediate and premutation alleles of the FMR1 gene.
- Published in:
- American Journal of Medical Genetics. Part A, 2024, v. 194, n. 4, p. 1, doi. 10.1002/ajmg.a.63479
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- Publication type:
- Article
First reported case of interstitial 15 q15.3-q21.3 deletion diagnosed prenatally and characterized with array CGH in a fetus with an isolated short femur.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 3, p. 617, doi. 10.1002/ajmg.a.34416
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- Publication type:
- Article
Mutations in the gene encoding mevalonate kinase cause hyper-IgD and periodic fever syndrome.
- Published in:
- Nature Genetics, 1999, v. 22, n. 2, p. 178, doi. 10.1038/9696
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- Article
Effect of Genotype and Previous GH Treatment on Adiposity in Adults With Prader-Willi Syndrome.
- Published in:
- 2016
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- Publication type:
- journal article
Combined Mutation And Rearrangement Screening by Quantitative PCR High-Resolution Melting: Is It Relevant for Hereditary Recurrent Fever Genes?
- Published in:
- PLoS ONE, 2010, v. 5, n. 11, p. 1, doi. 10.1371/journal.pone.0014096
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- Publication type:
- Article
Both rare and common genetic variants contribute to autism in the Faroe Islands.
- Published in:
- NPJ Genomic Medicine, 2019, v. 4, n. 1, p. N.PAG, doi. 10.1038/s41525-018-0075-2
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- Publication type:
- Article
Both rare and common genetic variants contribute to autism in the Faroe Islands.
- Published in:
- NPJ Genomic Medicine, 2019, v. 4, n. 1, p. N.PAG, doi. 10.1038/s41525-018-0075-2
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- Publication type:
- Article
Mutation in the SLC9A6 gene is not a frequent cause of sporadic Angelman-like syndrome.
- Published in:
- European Journal of Human Genetics, 2009, v. 17, n. 11, p. 1378, doi. 10.1038/ejhg.2009.82
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- Publication type:
- Article
Molecular analysis of MVK mutations and enzymatic activity in hyper-IgD and periodic fever syndrome.
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- European Journal of Human Genetics, 2001, v. 9, n. 4, p. 260
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- Publication type:
- Article
CINCA syndrome in an infant presenting with hydrocephalus.
- Published in:
- International Journal of Rheumatic Diseases, 2014, v. 17, n. 3, p. 346, doi. 10.1111/1756-185X.12308
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- Publication type:
- Article
Neonatal Silver-Russell Syndrome With Maternal Uniparental Heterodisomy, Trisomy 7 Mosaicism, and Dysplasia of the Cerebellum.
- Published in:
- American Journal of Clinical Pathology, 2014, v. 142, n. 2, p. 248, doi. 10.1309/AJCPBLMPRXKU1JUE
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- Publication type:
- Article
Molecular analysis of the mevalonate kinase gene in a cohort of patients with the hyper-igd and periodic fever syndrome: its application as a diagnostic tool.
- Published in:
- 2001
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- Publication type:
- journal article
AA amyloidosis complicating cryopyrin-associated periodic syndrome: a study of 86 cases including 23 French patients and systematic review.
- Published in:
- Rheumatology, 2022, v. 61, n. 12, p. 4827, doi. 10.1093/rheumatology/keac145
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- Publication type:
- Article
A variant Muckle-Wells syndrome with a novel mutation in CIAS1 gene responding to anakinra.
- Published in:
- 2007
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- Publication type:
- Report
Risk estimation of uniparental disomy of chromosome 14 or 15 in a fetus with a parent carrying a non-homologous Robertsonian translocation. Should we still perform prenatal diagnosis?
- Published in:
- 2019
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- Publication type:
- journal article
Loss‐of‐function variants in ARHGEF9 are associated with an X‐linked intellectual disability dominant disorder.
- Published in:
- Human Mutation, 2021, v. 42, n. 5, p. 498, doi. 10.1002/humu.24188
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- Publication type:
- Article
The infevers autoinflammatory mutation online registry: update with new genes and functions.
- Published in:
- 2008
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- Publication type:
- Other
Infevers: An evolving mutation database for auto-inflammatory syndromes.
- Published in:
- Human Mutation, 2004, v. 24, n. 3, p. 194, doi. 10.1002/humu.20080
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- Publication type:
- Article
Establishment of the paternal methylation imprint of the human H19 and MEST/PEG1 genes during spermatogenesis.
- Published in:
- Human Molecular Genetics, 2000, v. 9, n. 14, p. 2183, doi. 10.1093/hmg/9.14.2183
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- Publication type:
- Article