Search Results - Case Reports in Genetics

Search alternatives:

Refine Results
  1. Cover Image

    A Novel Case of NOTCH1 Variant and Nonimmune Hydrops Fetalis: A Case Report

    Published in Case Reports in Genetics (2025)
    Get full text
    Full Text Available
    Access Full Text at Repository
    Online Article RSS Article
    Save to List
    Saved in:
  2. Cover Image

    Emanuel Syndrome: A Case Report With Isolated Nuchal Translucency Thickening

    Published in Case Reports in Genetics (2025)
    Get full text
    Full Text Available
    Access Full Text at Repository
    Online Article RSS Article
    Save to List
    Saved in:
  3. Cover Image

    A Novel Variant in the BICRA Gene, Expanding the Phenotype: A Case Report

    Published in Case Reports in Genetics (2025)
    Get full text
    Full Text Available
    Access Full Text at Repository
    Online Article RSS Article
    Save to List
    Saved in:
  4. Cover Image

    NGLY1-CDDG: report of two cases from India and brief review of literature

    Published in Journal of Genetics (2025)
    Get full text
    Full Text Available
    Access Full Text at Repository
    Online Article RSS Article
    Save to List
    Saved in:
  5. Cover Image

    Prolonged Survival With Homozygous Deletion of Exon 9 in Perlman Syndrome: A Case Report

    Published in Case Reports in Genetics (2026)
    Get full text
    Full Text Available
    Access Full Text at Repository
    Online Article RSS Article
    Save to List
    Saved in:
  6. Cover Image

    Craniometaphyseal dysplasia with severe maxillary hypoplasia due to gene mutation: A case report

    Published in Journal of Genetics (2026)
    Get full text
    Full Text Available
    Access Full Text at Repository
    Online Article RSS Article
    Save to List
    Saved in:
  7. Cover Image

    Hereditary Myopathy With Early Respiratory Failure Associated With an Incidental COL4A5 Variant: A Case Report

    Published in Case Reports in Genetics (2026)
    Get full text
    Full Text Available
    Access Full Text at Repository
    Online Article RSS Article
    Save to List
    Saved in:
  8. Cover Image

    Concomitant Chromosomal and Molecular Aberrations in Trisomy 8 Mosaicism and Associated Compound Phenotypes: Report of Three Cases and Review of Literature

    Published in Case Reports in Genetics (2026)
    Get full text
    Full Text Available
    Access Full Text at Repository
    Online Article RSS Article
    Save to List
    Saved in:
  9. Cover Image

    Kufor–Rakeb Syndrome in a Guatemalan Patient With an ATP13A2 Gene Pathogenic Variant: A Case Report

    Published in Case Reports in Genetics (2025)
    Get full text
    Full Text Available
    Access Full Text at Repository
    Online Article RSS Article
    Save to List
    Saved in:
  10. Cover Image

    Clinical Heterogeneity of a TP53 Variant in a Consanguineous Omani Family: A Case Report Featuring a Homozygous Pathogenic Variant

    Published in Case Reports in Genetics (2026)
    Get full text
    Full Text Available
    Access Full Text at Repository
    Online Article RSS Article
    Save to List
    Saved in:
  11. Cover Image

    Microcephaly, Epilepsy, and Diabetes Syndrome 1: A Moroccan Case Report of Novel Compound Heterozygous IER3IP1 Mutations and Literature Review

    Get full text
    Full Text Available
    Access Full Text at Repository
    Online Article RSS Article
    Save to List
    Saved in:
  12. Cover Image

    Rare Presentation of Homozygous SLC20A2 Mutations Causing Intra-Arterial Cerebral Vasculopathy and Stroke in Infancy: Case Report and Review of the Literature

    Published in Case Reports in Genetics (2025)
    Get full text
    Full Text Available
    Access Full Text at Repository
    Online Article RSS Article
    Save to List
    Saved in:
  13. Cover Image

    Hunter syndrome: case report and review of literature

    Published 2006-06
    Full Text Available
    Access Repository
    Article
    Save to List
    Saved in:
  14. Cover Image

    Spinal Schwannomatosis Unassociated with Phakomatosis: A Case Report

    Published 2021
    Full Text Available
    Access Repository
    Article
    Save to List
    Saved in:
  15. Cover Image

    Successful Live Birth Following PGT‐SR in a Couple Who Were Both Carriers of Balanced Reciprocal Translocations Identified During Recurrent Pregnancy Loss Workup: A Case Report

    Published in Reproductive Medicine and Biology (2026)
    Get full text
    Full Text Available
    Access Full Text at Repository
    Online Article RSS Article
    Save to List
    Saved in:
  16. Cover Image

    A Successful Live Birth After Double Fertility Preservation With Embryo Cryopreservation and MPA Therapy Combined With Hysteroscopic Resection for Metachronous Breast and Endometri...

    Published in Reproductive Medicine and Biology (2026)
    Get full text
    Full Text Available
    Access Full Text at Repository
    Online Article RSS Article
    Save to List
    Saved in:
  17. Cover Image

    Bilateral Ganglionic Haemorrhagic Stroke Complicating Suspected Meningococcaemia: A Case Report

    Published 2020
    Full Text Available
    Access Repository
    Article
    Save to List
    Saved in:
  18. Cover Image

    GENETIC POLYMORPHISMS ASSOCIATED WITH HYPERTENSION IN THE ETHNIC POPULATIONS OF CALABAR AND UYO, NIGERIA

    Published 2012-08
    Full Text Available
    Access Repository
    Article
    Save to List
    Saved in:
  19. Cover Image

    GENETIC POLYMORPHISMS ASSOCIATED WITH HYPERTENSION IN THE ETHNIC POPULATIONS OF CALABAR AND UYO, NIGERIA

    Published 2012-08
    Full Text Available
    Access Repository
    Thesis
    Save to List
    Saved in:
  20. Cover Image

    Association of Genetic Polymorphisms of TGF-β1, HMOX1, and APOL1 with CKD in Nigerian patients with and without HIV.

    Published 2020
    Full Text Available
    Access Repository
    Article
    Save to List
    Saved in:

Search Tools: