Works in Molecular Genetics & Genomic Medicine, 2023, Vol 11, Issue 12
Results: 21
Gonadoblastoma in Turner syndrome with puberty delay: A case report and literature review.
- Published in:
- 2023
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- Publication type:
- Case Study
Fahr's disease linked to a novel mutation in MYORG variants manifesting as paroxysmal limb stiffness and dysarthria: Case report and literature review.
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- Molecular Genetics & Genomic Medicine, 2023, v. 11, n. 12, p. 1, doi. 10.1002/mgg3.2276
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- Publication type:
- Article
New observation of severe tooth malformation in a female patient with ectodermal dysplasia due to the EDA splice acceptor variant c.742‐2A>G.
- Published in:
- Molecular Genetics & Genomic Medicine, 2023, v. 11, n. 12, p. 1, doi. 10.1002/mgg3.2275
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- Publication type:
- Article
A case report of a novel HIST1H1E mutation and a review of the bibliography to evaluate the genotype–phenotype correlations.
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- Molecular Genetics & Genomic Medicine, 2023, v. 11, n. 12, p. 1, doi. 10.1002/mgg3.2273
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- Publication type:
- Article
Precision therapy for a medically actionable ATP1A3 variant from a genomic medicine program in an underserved population.
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- Molecular Genetics & Genomic Medicine, 2023, v. 11, n. 12, p. 1, doi. 10.1002/mgg3.2272
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- Publication type:
- Article
A somatic splice‐site variant in PIK3R1 in a patient with vascular overgrowth and low immunoglobulin levels: A case report.
- Published in:
- 2023
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- Publication type:
- Case Study
A new line method; A direct test in spinal muscular atrophy screening for DBS.
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- Molecular Genetics & Genomic Medicine, 2023, v. 11, n. 12, p. 1, doi. 10.1002/mgg3.2270
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- Publication type:
- Article
Phenotypic and genetic characteristics of 24 cases of early infantile epileptic encephalopathy in East China, including a rare case of biallelic UGDH mutations.
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- Molecular Genetics & Genomic Medicine, 2023, v. 11, n. 12, p. 1, doi. 10.1002/mgg3.2269
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- Publication type:
- Article
Clinical report and genetic analysis of a Chinese neonate with craniofacial microsomia caused by a splicing variant of the splicing factor 3b subunit 2 gene.
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- Molecular Genetics & Genomic Medicine, 2023, v. 11, n. 12, p. 1, doi. 10.1002/mgg3.2268
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- Publication type:
- Article
Congenital central hypoventilation syndrome in Chinese population: Analysis of three new cases and review of the literature.
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- Molecular Genetics & Genomic Medicine, 2023, v. 11, n. 12, p. 1, doi. 10.1002/mgg3.2267
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- Publication type:
- Article
Clinical heterogeneity of polish patients with KAT6B–related disorder.
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- Molecular Genetics & Genomic Medicine, 2023, v. 11, n. 12, p. 1, doi. 10.1002/mgg3.2265
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- Publication type:
- Article
First‐time application of droplet digital PCR for methylation testing of the 11p15.5 imprinting regions.
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- Molecular Genetics & Genomic Medicine, 2023, v. 11, n. 12, p. 1, doi. 10.1002/mgg3.2264
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- Publication type:
- Article
In silico validation revealed the role of SCN5A mutations and their genotype–phenotype correlations in Brugada syndrome.
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- Molecular Genetics & Genomic Medicine, 2023, v. 11, n. 12, p. 1, doi. 10.1002/mgg3.2263
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- Publication type:
- Article
Caregiver‐based perception of disease burden in Schaaf‐Yang syndrome.
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- Molecular Genetics & Genomic Medicine, 2023, v. 11, n. 12, p. 1, doi. 10.1002/mgg3.2262
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- Publication type:
- Article
A deleterious frameshift insertion mutation in the ZNF142 gene leads to intellectual developmental disorder with impaired speech in three affected siblings: Clinical features and literature review.
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- Molecular Genetics & Genomic Medicine, 2023, v. 11, n. 12, p. 1, doi. 10.1002/mgg3.2261
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- Publication type:
- Article
Promoter hypermethylation of RARB and GSTP1 genes in plasma cell‐free DNA as breast cancer biomarkers in Peruvian women.
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- Molecular Genetics & Genomic Medicine, 2023, v. 11, n. 12, p. 1, doi. 10.1002/mgg3.2260
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- Publication type:
- Article
A novel pathogenic variant located just upstream of the C‐terminal Ser423‐X‐Ser425 phosphorylation motif in SMAD3 causing Loeys–Dietz syndrome.
- Published in:
- Molecular Genetics & Genomic Medicine, 2023, v. 11, n. 12, p. 1, doi. 10.1002/mgg3.2257
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- Publication type:
- Article
Expanding the allelic spectrum of ELOVL4‐related autosomal recessive neuro‐ichthyosis.
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- Molecular Genetics & Genomic Medicine, 2023, v. 11, n. 12, p. 1, doi. 10.1002/mgg3.2256
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- Publication type:
- Article
Rare functional variants in the CRP and G6PC genes modify the relationship between obesity and serum C‐reactive protein in white British population.
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- Molecular Genetics & Genomic Medicine, 2023, v. 11, n. 12, p. 1, doi. 10.1002/mgg3.2255
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- Publication type:
- Article
Studying carrier frequency of spinal muscular atrophy in the State of Qatar and comparison to other ethnic groups: Pilot study.
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- Molecular Genetics & Genomic Medicine, 2023, v. 11, n. 12, p. 1, doi. 10.1002/mgg3.2184
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- Publication type:
- Article
Issue Information.
- Published in:
- Molecular Genetics & Genomic Medicine, 2023, v. 11, n. 12, p. 1, doi. 10.1002/mgg3.1984
- Publication type:
- Article