Results for Case Reports in Genetics Showing 1 - 24 results of 24 Laminas_Feed_Writer 2 (https://getlaminas.org) https://search.frelip.org/Search/Results?sort=last_indexed+desc&limit=50&lookfor=Case+Reports+in+Genetics&type=AllFields&lng=en 24 0 50 Focal palmoplantar keratoderma in 2 children leading to gait abnormalities. Sun, 01 Jan 2006 22:25:09 -0500 https://search.frelip.org/Record/oai:repository.ui.edu.ng:123456789%2F10068 https://search.frelip.org/Record/oai:repository.ui.edu.ng:123456789%2F10068 Article 2006 0 Association of Genetic Polymorphisms of TGF-β1, HMOX1, and APOL1 with CKD in Nigerian patients with and without HIV. Wed, 01 Jan 2020 22:25:09 -0500 https://search.frelip.org/Record/oai:repository.ui.edu.ng:123456789%2F10176 https://search.frelip.org/Record/oai:repository.ui.edu.ng:123456789%2F10176 Article 2020 0 African Ancestry, APOL1, candidate genes, CDKN2A/CDKN2B, HDAC9, small vessel disease, stroke, West Africa Sun, 01 Jan 2017 22:25:09 -0500 https://search.frelip.org/Record/oai:repository.ui.edu.ng:123456789%2F12492 https://search.frelip.org/Record/oai:repository.ui.edu.ng:123456789%2F12492 Article 2017 0 Bilateral Ganglionic Haemorrhagic Stroke Complicating Suspected Meningococcaemia: A Case Report Wed, 01 Jan 2020 22:25:09 -0500 https://search.frelip.org/Record/oai:repository.ui.edu.ng:123456789%2F13669 https://search.frelip.org/Record/oai:repository.ui.edu.ng:123456789%2F13669 Article 2020 0 Spinal Schwannomatosis Unassociated with Phakomatosis: A Case Report Fri, 01 Jan 2021 22:25:09 -0500 https://search.frelip.org/Record/oai:repository.ui.edu.ng:123456789%2F13711 https://search.frelip.org/Record/oai:repository.ui.edu.ng:123456789%2F13711 Article 2021 0 THE PREVALENCE OF FURUNCULOSIS AND PLASMID MEDIATED RESISTANCE OF ISOLATES OFSTAPHYLOCOCCUS AUREUS FROM INFECTED INDIVIDUALS IN SOUTHWEST NIGERIA. Sun, 01 Jan 2012 22:25:09 -0500 https://search.frelip.org/Record/oai:repository.ui.edu.ng:123456789%2F218 https://search.frelip.org/Record/oai:repository.ui.edu.ng:123456789%2F218 Article 2012 0 Hunter syndrome: case report and review of literature Sun, 01 Jan 2006 22:25:09 -0500 https://search.frelip.org/Record/oai:repository.ui.edu.ng:123456789%2F2733 https://search.frelip.org/Record/oai:repository.ui.edu.ng:123456789%2F2733 Article 2006 0 GENETIC POLYMORPHISMS ASSOCIATED WITH HYPERTENSION IN THE ETHNIC POPULATIONS OF CALABAR AND UYO, NIGERIA Sun, 01 Jan 2012 22:25:09 -0500 https://search.frelip.org/Record/oai:repository.ui.edu.ng:123456789%2F2997 https://search.frelip.org/Record/oai:repository.ui.edu.ng:123456789%2F2997 Article 2012 0 THE PREVALENCE OF FURUNCULOSIS AND PLASMIDMEDIATED RESISTANCE OF ISOLATES OF STAPHYLOCOCCUS AUREUS FROM INFECTED INDIVIDUALS IN SOUTHWEST NIGERIA Sun, 01 Jan 2012 22:25:09 -0500 https://search.frelip.org/Record/oai:repository.ui.edu.ng:123456789%2F614 https://search.frelip.org/Record/oai:repository.ui.edu.ng:123456789%2F614 Article 2012 0 GENETIC POLYMORPHISMS ASSOCIATED WITH HYPERTENSION IN THE ETHNIC POPULATIONS OF CALABAR AND UYO, NIGERIA Sun, 01 Jan 2012 22:25:09 -0500 https://search.frelip.org/Record/oai:repository.ui.edu.ng:123456789%2F8989 https://search.frelip.org/Record/oai:repository.ui.edu.ng:123456789%2F8989 Thesis 2012 0 Microcephaly, Epilepsy, and Diabetes Syndrome 1: A Moroccan Case Report of Novel Compound Heterozygous IER3IP1 Mutations and Literature Review Wed, 01 Jan 2025 22:25:09 -0500 https://search.frelip.org/Record/rss_article:28692 https://search.frelip.org/Record/rss_article:28692 Online Article RSS Article 2025 0 Hereditary Myopathy With Early Respiratory Failure Associated With an Incidental COL4A5 Variant: A Case Report Thu, 01 Jan 2026 22:25:09 -0500 https://search.frelip.org/Record/rss_article:28715 https://search.frelip.org/Record/rss_article:28715 Online Article RSS Article 2026 0 Concomitant Chromosomal and Molecular Aberrations in Trisomy 8 Mosaicism and Associated Compound Phenotypes: Report of Three Cases and Review of Literature Thu, 01 Jan 2026 22:25:09 -0500 https://search.frelip.org/Record/rss_article:28718 https://search.frelip.org/Record/rss_article:28718 Online Article RSS Article 2026 0 Rare Presentation of Homozygous SLC20A2 Mutations Causing Intra-Arterial Cerebral Vasculopathy and Stroke in Infancy: Case Report and Review of the Literature Wed, 01 Jan 2025 22:25:09 -0500 https://search.frelip.org/Record/rss_article:28723 https://search.frelip.org/Record/rss_article:28723 Online Article RSS Article 2025 0 Kufor–Rakeb Syndrome in a Guatemalan Patient With an ATP13A2 Gene Pathogenic Variant: A Case Report Wed, 01 Jan 2025 22:25:09 -0500 https://search.frelip.org/Record/rss_article:28728 https://search.frelip.org/Record/rss_article:28728 Online Article RSS Article 2025 0 A Novel Variant in the BICRA Gene, Expanding the Phenotype: A Case Report Wed, 01 Jan 2025 22:25:09 -0500 https://search.frelip.org/Record/rss_article:28734 https://search.frelip.org/Record/rss_article:28734 Online Article RSS Article 2025 0 Emanuel Syndrome: A Case Report With Isolated Nuchal Translucency Thickening Wed, 01 Jan 2025 22:25:09 -0500 https://search.frelip.org/Record/rss_article:28735 https://search.frelip.org/Record/rss_article:28735 Online Article RSS Article 2025 0 A Novel Case of NOTCH1 Variant and Nonimmune Hydrops Fetalis: A Case Report Wed, 01 Jan 2025 22:25:09 -0500 https://search.frelip.org/Record/rss_article:28738 https://search.frelip.org/Record/rss_article:28738 Online Article RSS Article 2025 0 NGLY1-CDDG: report of two cases from India and brief review of literature Wed, 01 Jan 2025 22:25:09 -0500 https://search.frelip.org/Record/rss_article:28857 https://search.frelip.org/Record/rss_article:28857 Online Article RSS Article 2025 0 A Successful Live Birth After Double Fertility Preservation With Embryo Cryopreservation and MPA Therapy Combined With Hysteroscopic Resection for Metachronous Breast and Endometrial Cancer in Women With Cowden Syndrome: A Case Report Thu, 01 Jan 2026 22:25:09 -0500 https://search.frelip.org/Record/rss_article:28965 https://search.frelip.org/Record/rss_article:28965 Online Article RSS Article 2026 0 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 Thu, 01 Jan 2026 22:25:09 -0500 https://search.frelip.org/Record/rss_article:28976 https://search.frelip.org/Record/rss_article:28976 Online Article RSS Article 2026 0 Prolonged Survival With Homozygous Deletion of Exon 9 in Perlman Syndrome: A Case Report Thu, 01 Jan 2026 22:25:09 -0500 https://search.frelip.org/Record/rss_article:45020 https://search.frelip.org/Record/rss_article:45020 Online Article RSS Article 2026 0 Clinical Heterogeneity of a TP53 Variant in a Consanguineous Omani Family: A Case Report Featuring a Homozygous Pathogenic Variant Thu, 01 Jan 2026 22:25:09 -0500 https://search.frelip.org/Record/rss_article:45518 https://search.frelip.org/Record/rss_article:45518 Online Article RSS Article 2026 0 Craniometaphyseal dysplasia with severe maxillary hypoplasia due to gene mutation: A case report Thu, 01 Jan 2026 22:25:09 -0500 https://search.frelip.org/Record/rss_article:47524 https://search.frelip.org/Record/rss_article:47524 Online Article RSS Article 2026 0