Found: 19
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A Novel Synonymous Variant in SQSTM1 Causes Neurodegeneration With Ataxia, Dystonia, and Gaze Palsy Revealed by Urine‐Derived Cells‐Based Functional Analysis.
- Published in:
- Molecular Genetics & Genomic Medicine, 2024, v. 12, n. 11, p. 1, doi. 10.1002/mgg3.70044
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- Publication type:
- Article
Parkinson's Disease Polygenic Risk Score and Neurological Involvement in Carriers of the FMR1 Premutation Allele: A Case for Genetic Modifier.
- Published in:
- Molecular Genetics & Genomic Medicine, 2024, v. 12, n. 11, p. 1, doi. 10.1002/mgg3.70043
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- Article
Variability in Disease Severity in Siblings With Homozygous Missense Variant of ADSSL1: Clinical Genetic Study and Review of Literatures.
- Published in:
- 2024
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- Publication type:
- Case Study
Performance of Dysmorphology‐Based Screening for Genetic Disorders in Pediatric Congenital Heart Disease Supports Wider Genetic Testing.
- Published in:
- Molecular Genetics & Genomic Medicine, 2024, v. 12, n. 11, p. 1, doi. 10.1002/mgg3.70040
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- Publication type:
- Article
Barriers and Facilitators to Participation in Clinical Trials Related to Familial Frontotemporal Dementia: A Qualitative Study.
- Published in:
- Molecular Genetics & Genomic Medicine, 2024, v. 12, n. 11, p. 1, doi. 10.1002/mgg3.70038
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- Publication type:
- Article
Development of a Tagmentation‐Based Next‐Generation Sequencing Clinical Assay as an Alternative to Capillary Electrophoresis‐Based Sequencing.
- Published in:
- Molecular Genetics & Genomic Medicine, 2024, v. 12, n. 11, p. 1, doi. 10.1002/mgg3.70035
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- Publication type:
- Article
Newborn Screening for Isovaleric Acidemia: Treatment With Pivalate‐Generating Antibiotics Contributed to False C5‐Carnitine Positivity in a Chinese Population.
- Published in:
- Molecular Genetics & Genomic Medicine, 2024, v. 12, n. 11, p. 1, doi. 10.1002/mgg3.70034
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- Article
Deciphering Growth Patterns in Korean Children With Sotos Syndrome Through the Development of a Disease‐Specific Growth Chart.
- Published in:
- Molecular Genetics & Genomic Medicine, 2024, v. 12, n. 11, p. 1, doi. 10.1002/mgg3.70028
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- Publication type:
- Article
Reclassification of Two MLH1 Variants of Uncertain Significance Utilizing Clinical and Functional Data.
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- Molecular Genetics & Genomic Medicine, 2024, v. 12, n. 11, p. 1, doi. 10.1002/mgg3.70026
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- Publication type:
- Article
A Novel Homozygote Pathogenic Variant in the DIAPH1 Gene Associated With Seizures, Cortical Blindness, and Microcephaly Syndrome (SCBMS): Report of a Family and Literature Review.
- Published in:
- Molecular Genetics & Genomic Medicine, 2024, v. 12, n. 11, p. 1, doi. 10.1002/mgg3.70031
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- Publication type:
- Article
Pathogenicity of the LDLR c.97C>T (p.Gln33Ter) Mutation in Familial Hypercholesterolemia.
- Published in:
- Molecular Genetics & Genomic Medicine, 2024, v. 12, n. 11, p. 1, doi. 10.1002/mgg3.70030
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- Publication type:
- Article
Long‐Read Sequencing Identifying the Genetic Complexity of Congenital Adrenal Hyperplasia in the Pedigree.
- Published in:
- 2024
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- Publication type:
- Case Study
SRY+ Derivative X Chromosome in a Female With Apparently Typical Sexual Development.
- Published in:
- 2024
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- Publication type:
- Case Study
A Novel Splice Site Variant in COL6A1 Causes Ullrich Congenital Muscular Dystrophy in a Consanguineous Malian Family.
- Published in:
- 2024
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- Publication type:
- Case Study
Assessment of Myocardial Fibrosis in Marfan Syndrome Using Cardiac Magnetic Resonance Imaging.
- Published in:
- Molecular Genetics & Genomic Medicine, 2024, v. 12, n. 11, p. 1, doi. 10.1002/mgg3.70024
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- Publication type:
- Article
ERAP1 Gene Variants and Haplotypes Associated With Psoriasis Vulgaris of Han Chinese in Inner Mongolia.
- Published in:
- Molecular Genetics & Genomic Medicine, 2024, v. 12, n. 11, p. 1, doi. 10.1002/mgg3.70021
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- Publication type:
- Article
A Novel Mutation of FOXC1 (P136L) in an Axenfeld–Rieger Syndrome Patient With a Systematized Delusion of Jealousy: A Case Report and Literature Review.
- Published in:
- Molecular Genetics & Genomic Medicine, 2024, v. 12, n. 11, p. 1, doi. 10.1002/mgg3.70008
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- Publication type:
- Article
Issue Information.
- Published in:
- Molecular Genetics & Genomic Medicine, 2024, v. 12, n. 11, p. 1, doi. 10.1002/mgg3.2213
- Publication type:
- Article
In a cohort of 961 clinically suspected Duchenne muscular dystrophy patients, 105 were diagnosed to have other muscular dystrophies (OMDs), with LGMD2E (variant SGCB c.544A>C) being the most common.
- Published in:
- Molecular Genetics & Genomic Medicine, 2024, v. 12, n. 11, p. 1, doi. 10.1002/mgg3.2123
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- Publication type:
- Article