Výsledky vyhledávání - "Pierre Ghostine"

Novel USP9X Mutation in A Lebanese Patient with Delay and Microcephaly: Case Report and Review of Literature

Autor: Pierre Ghostine, Marie-Christine Seghaye, Bassam Romanos, Mohamad Fattah, Hicham Mansour

Introduction: USP9X gene is located on the X-chromosome and encodes for an enzyme that regulates important substrates involved in neuronal growth and development. Thus, rare USP9X mutations were identified as directly causative of neurodevelopmental

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od______2659::574fec645ff11abf4e081c87ba5c5ecc
https://zenodo.org/record/8035818

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Malignant Hyperthermia and Absence of Ryanodine Receptors in a Child Presenting for Ptosis Repair

Autor: Pierre Ghostine

Publikováno v: Global Journal of Pediatrics (GJP). 2:1-3

Introduction: Malignant hyperthermia (MH) is a hypermetabolic condition caused by a genetic cell membranes channel disruption leading to increased calcium release from the sarcoplasmic reticulum after exposure to triggering agents. Central Core Disea

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::810e2a9e06262f7557c7ffbb9c51e89c
https://doi.org/10.54026/gjp/1012

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