Výsledky vyhledávání - "Saleh Al fulayyih"

Pathogenic Novel Heterozygous Variant c.1076cT p. (Ser359Phe) chr1: 120512166 in NOTCH2 Gene, Type 2 Alagille Syndrome Causing Neonatal Cholestasis: A Case Report

Autor: Mohammed Shahab Uddin, Saleh Al Fulayyih, Fatin Fahad Al Denaini, Maher Mohammed Al Hatlani

Publikováno v: The American journal of case reports. 23

BACKGROUND Alagille syndrome (ALGS) is a multisystem hereditary illness with a dominant pattern and partial penetrance. Multiple organ abnormalities can be caused by mutations in the Jagged canonical Notch ligand 1 (JAG1) gene. Notch receptor 2 (NOTC

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::712c89a37ab7735779533cb59ef7e260
https://pubmed.ncbi.nlm.nih.gov/36201396

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An 11-Year-Old Saudi Arabian Girl Who Presented with Multisystem Inflammatory Syndrome in Children (MIS-C) Associated with SARS-CoV-2 Infection with Coronary Artery Aneurysm and Cardiac Involvement: A Case Report

Autor: Mohammed S. Al Qahtani, Saleh Al fulayyih, Zuhair Hamid, Sarah Al Baridi, Mohammed Shahab Uddin

Publikováno v: The American Journal of Case Reports

Patient: Female, 11-year-old Final Diagnosis: Pediatrics multisystem inflammatory syndrome Symptoms: Cough • fever • shortness of breath Medication: — Clinical Procedure: — Specialty: Infectious Diseases Objective: Unusual clinical course Bac

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d12b7da93dd861dc3c879312f300fc5d
https://doi.org/10.12659/ajcr.933053

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