Works in Molecular Genetics & Genomic Medicine, 2022, Vol 10, Issue 12
Results: 21
Chinese familial central precocious puberty with hyperuricemia due to recurrent DLK1 mutation: Case report and review of the literature.
- Published in:
- 2022
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- Publication type:
- Case Study
Identification of genetic characteristics in pediatric epilepsy with focal cortical dysplasia type 2 using deep whole‐exome sequencing.
- Published in:
- Molecular Genetics & Genomic Medicine, 2022, v. 10, n. 12, p. 1, doi. 10.1002/mgg3.2086
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- Publication type:
- Article
Assessment of an automated approach for variant interpretation in screening for monogenic disorders: A single‐center study.
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- Molecular Genetics & Genomic Medicine, 2022, v. 10, n. 12, p. 1, doi. 10.1002/mgg3.2085
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- Publication type:
- Article
Elevated plasma miR‐210 expression is associated with atypical genitalia in patients with 46,XY differences in sex development.
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- Molecular Genetics & Genomic Medicine, 2022, v. 10, n. 12, p. 1, doi. 10.1002/mgg3.2084
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- Publication type:
- Article
Identification of nine novel variants across PAX3, SOX10, EDNRB, and MITF genes in Waardenburg syndrome with next‐generation sequencing.
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- Molecular Genetics & Genomic Medicine, 2022, v. 10, n. 12, p. 1, doi. 10.1002/mgg3.2082
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- Publication type:
- Article
Genetic evaluation of hyperphenylalaninemia patients with tetrahydrobiopterin deficiency in Iranian population: Identification of four novel disease‐causing variants.
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- Molecular Genetics & Genomic Medicine, 2022, v. 10, n. 12, p. 1, doi. 10.1002/mgg3.2081
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- Publication type:
- Article
Evaluation of X chromosome inactivation in endemic Tunisian pemphigus foliaceus.
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- Molecular Genetics & Genomic Medicine, 2022, v. 10, n. 12, p. 1, doi. 10.1002/mgg3.2080
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- Publication type:
- Article
Novel biallelic mutations in TTC29 cause asthenoteratospermia and male infertility.
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- Molecular Genetics & Genomic Medicine, 2022, v. 10, n. 12, p. 1, doi. 10.1002/mgg3.2078
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- Publication type:
- Article
A single heterozygous nonsense mutation in the TTC21B gene causes adult‐onset nephronophthisis 12: A case report and review of literature.
- Published in:
- Molecular Genetics & Genomic Medicine, 2022, v. 10, n. 12, p. 1, doi. 10.1002/mgg3.2076
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- Publication type:
- Article
Nabais Sa‐de Vries syndrome in a Chinese infant associated with a novel SPOP mutation: A clinical study and genetic report.
- Published in:
- 2022
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- Publication type:
- Case Study
Gene polymorphisms of cyclin‐dependent kinase inhibitor and matrix metalloproteinase‐9 in Sudanese patients with esophageal squamous cell carcinoma.
- Published in:
- Molecular Genetics & Genomic Medicine, 2022, v. 10, n. 12, p. 1, doi. 10.1002/mgg3.2074
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- Publication type:
- Article
Scalable detection of technically challenging variants through modified next‐generation sequencing.
- Published in:
- Molecular Genetics & Genomic Medicine, 2022, v. 10, n. 12, p. 1, doi. 10.1002/mgg3.2072
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- Publication type:
- Article
Evaluation of family history in individuals with heterozygous BRCA pathogenic variants diagnosed with breast or ovarian cancer in a single center in Italy.
- Published in:
- Molecular Genetics & Genomic Medicine, 2022, v. 10, n. 12, p. 1, doi. 10.1002/mgg3.2071
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- Publication type:
- Article
Expanding the genetic spectrum for Chinese familial hypercholesterolemia population with six genetic mutations identified using a next‐generation sequencing‐based laboratory‐developed screening test.
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- Molecular Genetics & Genomic Medicine, 2022, v. 10, n. 12, p. 1, doi. 10.1002/mgg3.2070
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- Publication type:
- Article
Clinical phenotypes study of 231 children with Williams syndrome in China: A single‐center retrospective study.
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- Molecular Genetics & Genomic Medicine, 2022, v. 10, n. 12, p. 1, doi. 10.1002/mgg3.2069
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- Publication type:
- Article
A novel variant in the HX repeat motif of ATN1 in a Chinese patient with CHEDDA syndrome and literature review.
- Published in:
- 2022
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- Publication type:
- Case Study
A novel, likely pathogenic variant in UBTF‐related neurodegeneration with brain atrophy is associated with a severe divergent neurodevelopmental phenotype.
- Published in:
- Molecular Genetics & Genomic Medicine, 2022, v. 10, n. 12, p. 1, doi. 10.1002/mgg3.2054
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- Publication type:
- Article
Cohen syndrome in two patients from China.
- Published in:
- Molecular Genetics & Genomic Medicine, 2022, v. 10, n. 12, p. 1, doi. 10.1002/mgg3.2053
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- Publication type:
- Article
Neurodevelopmental disorder with dystonia due to SOX6 mutations.
- Published in:
- 2022
- By:
- Publication type:
- Case Study
A TNNI2 variant c.525G>T causes distal arthrogryposis in a Chinese family.
- Published in:
- 2022
- By:
- Publication type:
- Case Study
Issue Information.
- Published in:
- Molecular Genetics & Genomic Medicine, 2022, v. 10, n. 12, p. 1, doi. 10.1002/mgg3.1723
- Publication type:
- Article