Found: 16
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Prenatal whole‐exome sequencing in fetuses with increased nuchal translucency.
- Published in:
- Molecular Genetics & Genomic Medicine, 2023, v. 11, n. 11, p. 1, doi. 10.1002/mgg3.2246
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- Publication type:
- Article
Novel KCNJ16 variants identified in a Chinese patient with hypokalemic metabolic acidosis.
- Published in:
- Molecular Genetics & Genomic Medicine, 2023, v. 11, n. 11, p. 1, doi. 10.1002/mgg3.2238
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- Publication type:
- Article
Genomic testing in voluntary workplace wellness programs in the US: Evidence and challenges.
- Published in:
- Molecular Genetics & Genomic Medicine, 2023, v. 11, n. 11, p. 1, doi. 10.1002/mgg3.2245
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- Publication type:
- Article
Haplotypes of [‐794(CATT)<sub>5–8</sub>/‐173G>C] MIF gene polymorphisms and its soluble levels in cutaneous squamous cell carcinoma in western Mexican population.
- Published in:
- Molecular Genetics & Genomic Medicine, 2023, v. 11, n. 11, p. 1, doi. 10.1002/mgg3.2252
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- Publication type:
- Article
A novel splicing variation in L1CAM is responsible for recurrent fetal hydrocephalus.
- Published in:
- 2023
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- Publication type:
- Case Study
Association of family sequence similarity gene 13A gene polymorphism and interstitial lung disease susceptibility: A systematic review and meta‐analysis.
- Published in:
- Molecular Genetics & Genomic Medicine, 2023, v. 11, n. 11, p. 1, doi. 10.1002/mgg3.2279
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- Publication type:
- Article
Mutation spectrum of retinoblastoma patients in Vietnam.
- Published in:
- Molecular Genetics & Genomic Medicine, 2023, v. 11, n. 11, p. 1, doi. 10.1002/mgg3.2244
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- Publication type:
- Article
Compound heterozygous variants in CFTR with potentially reducing ATP‐binding ability identified in Chinese infertile brothers with isolated congenital bilateral absence of vas deferens.
- Published in:
- Molecular Genetics & Genomic Medicine, 2023, v. 11, n. 11, p. 1, doi. 10.1002/mgg3.2249
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- Publication type:
- Article
A de novo variant of BICRA results in Coffin–Siris syndrome 12.
- Published in:
- Molecular Genetics & Genomic Medicine, 2023, v. 11, n. 11, p. 1, doi. 10.1002/mgg3.2250
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- Publication type:
- Article
Next‐generation sequencing through multi‐gene panel testing for the diagnosis of a Chinese patient with atypical Cockayne syndrome.
- Published in:
- 2023
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- Publication type:
- Case Study
Noonan syndrome: rhGH treatment and PTPN11 mutation.
- Published in:
- Molecular Genetics & Genomic Medicine, 2023, v. 11, n. 11, p. 1, doi. 10.1002/mgg3.2266
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- Publication type:
- Article
Clinical outcome and genotype analysis of four Chinese children with pyruvate kinase deficiency.
- Published in:
- Molecular Genetics & Genomic Medicine, 2023, v. 11, n. 11, p. 1, doi. 10.1002/mgg3.2239
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- Publication type:
- Article
Multidisciplinary molecular consultation increases the diagnosis of pediatric epileptic encephalopathy and neurodevelopmental disorders.
- Published in:
- Molecular Genetics & Genomic Medicine, 2023, v. 11, n. 11, p. 1, doi. 10.1002/mgg3.2243
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- Publication type:
- Article
Identification of a novel COL7A1 variant associated with dystrophic epidermolysis bullosa pruriginosa responding effectively to dupilumab.
- Published in:
- 2023
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- Publication type:
- Case Study
Identification of a de novo variant in the ASXL2 gene related to Shashi‐Pena syndrome.
- Published in:
- Molecular Genetics & Genomic Medicine, 2023, v. 11, n. 11, p. 1, doi. 10.1002/mgg3.2251
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- Publication type:
- Article
Issue Information.
- Published in:
- Molecular Genetics & Genomic Medicine, 2023, v. 11, n. 11, p. 1, doi. 10.1002/mgg3.1983
- Publication type:
- Article