Found: 8
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Polymorphism in the IL-8 Gene Promoter and the Risk of Acne Vulgaris in a Pakistani Population.
- Published in:
- 2015
- By:
- Publication type:
- journal article
A homozygous missense variant in YTHDC2 induces azoospermia in two siblings.
- Published in:
- Molecular Genetics & Genomics, 2024, v. 299, n. 1, p. 1, doi. 10.1007/s00438-024-02168-9
- By:
- Publication type:
- Article
Exome sequencing in four families with neurodevelopmental disorders: genotype–phenotype correlation and identification of novel disease-causing variants in VPS13B and RELN.
- Published in:
- Molecular Genetics & Genomics, 2024, v. 299, n. 1, p. 1, doi. 10.1007/s00438-024-02149-y
- By:
- Publication type:
- Article
NGS-driven molecular diagnosis of heterogeneous hereditary neurological disorders reveals novel and known variants in disease-causing genes.
- Published in:
- Molecular Genetics & Genomics, 2022, v. 297, n. 6, p. 1601, doi. 10.1007/s00438-022-01945-8
- By:
- Publication type:
- Article
Genetic analysis of osteopetrosis in Pakistani families identifies novel and known sequence variants.
- Published in:
- BMC Medical Genomics, 2021, v. 14, n. 1, p. 1, doi. 10.1186/s12920-021-01117-4
- By:
- Publication type:
- Article
Epidemiological, clinical and genetic characterization of aplastic anemia patients in Pakistan.
- Published in:
- Annals of Hematology, 2019, v. 98, n. 2, p. 301, doi. 10.1007/s00277-018-3542-z
- By:
- Publication type:
- Article
The impact factor: A bad impact on individual research.
- Published in:
- 2012
- By:
- Publication type:
- Letter
Screening of the FANCA gene mutational hotspots in the Pakistani fanconi anemia patients revealed 19 sequence variations.
- Published in:
- Congenital Anomalies, 2020, v. 60, n. 1, p. 32, doi. 10.1111/cga.12331
- By:
- Publication type:
- Article