Found: 17
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Synonymous variant at the terminal nucleotide in exon 3 of F7 causes abnormal splicing: A case report.
- Published in:
- Molecular Genetics & Genomic Medicine, 2024, v. 12, n. 7, p. 1, doi. 10.1002/mgg3.2492
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- Publication type:
- Article
Prenatal diagnosis and genetic study of 22q11.2 microduplication in Chinese fetuses: A series of 31 cases and literature review.
- Published in:
- 2024
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- Publication type:
- Case Study
Multisystem disorder associated with a pathogenic variant in CLCN7 in the absence of osteopetrosis.
- Published in:
- Molecular Genetics & Genomic Medicine, 2024, v. 12, n. 7, p. 1, doi. 10.1002/mgg3.2494
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- Publication type:
- Article
Clinical approach for managing patients with unexpected CDH1 mutations: A case report.
- Published in:
- 2024
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- Publication type:
- Case Study
Correction to "In silico validation revealed the role of SCN5A mutations and their genotype–phenotype correlations in Brugada syndrome".
- Published in:
- 2024
- Publication type:
- Correction Notice
Brainstem dominant form of X‐linked adrenoleukodystrophy with a novel ABCD1 missense variant: A case report and literature review.
- Published in:
- 2024
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- Publication type:
- Case Study
Glucose‐6‐phosphate dehydrogenase deficiency as a cause for nonimmune hydrops fetalis and severe fetal anemia: A systematic review.
- Published in:
- Molecular Genetics & Genomic Medicine, 2024, v. 12, n. 7, p. 1, doi. 10.1002/mgg3.2491
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- Publication type:
- Article
A compound heterozygote case of glutaric aciduria type II in a patient carrying a novel candidate variant in ETFDH gene: A case report and literature review on compound heterozygote cases.
- Published in:
- Molecular Genetics & Genomic Medicine, 2024, v. 12, n. 7, p. 1, doi. 10.1002/mgg3.2489
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- Publication type:
- Article
After an initial Hermansky–Pudlak syndrome clinical diagnosis, molecular testing reveals variants for oculocutaneous albinism type 1B: A case report.
- Published in:
- 2024
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- Publication type:
- Case Study
A novel variant in the FLCN gene in a Chinese family with Birt–Hogg–Dubé syndrome.
- Published in:
- Molecular Genetics & Genomic Medicine, 2024, v. 12, n. 7, p. 1, doi. 10.1002/mgg3.2488
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- Publication type:
- Article
Clinical and genetic variability among Bulgarian patients with autosomal recessive spastic ataxia of Charlevoix–Saguenay.
- Published in:
- Molecular Genetics & Genomic Medicine, 2024, v. 12, n. 7, p. 1, doi. 10.1002/mgg3.2483
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- Publication type:
- Article
Targeted next‐generation sequencing reveals the genetic mechanism of Chinese Marfan syndrome cohort with ocular manifestation.
- Published in:
- Molecular Genetics & Genomic Medicine, 2024, v. 12, n. 7, p. 1, doi. 10.1002/mgg3.2482
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- Publication type:
- Article
Mutational spectrum and genotype–phenotype correlation in Mexican patients with infantile‐onset and late‐onset Pompe disease.
- Published in:
- Molecular Genetics & Genomic Medicine, 2024, v. 12, n. 7, p. 1, doi. 10.1002/mgg3.2480
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- Publication type:
- Article
Mutated neuron navigator 3 as a candidate gene for a rare neurodevelopmental disorder.
- Published in:
- Molecular Genetics & Genomic Medicine, 2024, v. 12, n. 7, p. 1, doi. 10.1002/mgg3.2473
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- Publication type:
- Article
A case of inherited glycosylphosphatidylinositol deficiency caused by PGAP3 variant with uniparental isodisomy on chromosome 17.
- Published in:
- 2024
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- Publication type:
- Case Study
A novel variant c.902C>A (p. A301D) in KCNQ4 associated with non‐syndromic deafness 2A in a Chinese family.
- Published in:
- Molecular Genetics & Genomic Medicine, 2024, v. 12, n. 7, p. 1, doi. 10.1002/mgg3.2446
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- Publication type:
- Article
Issue Information.
- Published in:
- Molecular Genetics & Genomic Medicine, 2024, v. 12, n. 7, p. 1, doi. 10.1002/mgg3.2209
- Publication type:
- Article