Výsledky vyhledávání - "Hafiza Yasmin Manzoor"

Akademický článek

Uncovering the genetic basis of hyperphosphatasia with impaired intellectual development syndrome type 2: identification of a novel biallelic nonsense mutation in PIGO gene

Autor: Anam Nayab, Shagufta Andleeb, Shah Zeb, Hafiza Yasmin Manzoor, Zamrud Zehri, Arif Mahmood, Hammal Khan, Muhammad Umair, Ahmed Waqas

Publikováno v: Journal of Biochemical and Clinical Genetics, Vol 6, Iss 1, Pp 22-28 (2023)

Background: Glycosylphosphatidylinositol (GPI) is a glycolipid containing phosphatidylinositol related to the protein surfaces by covalent attachment. Inherited GPI deficiencies have various phenotypic chrematistics, which range from intellectual dis

Externí odkaz: https://doaj.org/article/b7f46a48c0524dd1b05fa88a0a857f32

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Akademický článek

A biallelic variant in IQCE predisposed to cause non-syndromic post-axial polydactyly type A

Autor: Muhammad Bilal, Muhammad Raheel, Gul Hassan, Shah Zeb, Arif Mahmood, Zamrud Zehri, Hafiza Yasmin Manzoor, Muhammad Umair

Publikováno v: Journal of Biochemical and Clinical Genetics, Vol 6, Iss 1, Pp 29-35 (2023)

Background: Polydactyly or hexadactyly is a familiar limb defect that either occurs as an isolated entity (non-syndromic) or is associated with severe (syndromic) morphological phenotypes. Generally, it appears due to a defect in the anteroposterior

Externí odkaz: https://doaj.org/article/da295602d659419b8349b36ffd752bf8

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