Mutational analysis and clinical investigations of medically diagnosed GSD 1a patients from Pakistan by Bushra Gul, Sabika Firasat, Tayyaba Shan, Raeesa Tehreem, Kiran Afshan

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Mutational analysis and clinical investigations of medically diagnosed GSD 1a patients from Pakistan. by Bushra Gul, Sabika Firasat, Tayyaba Shan, Raeesa Tehreem, Kiran Afshan

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Analysis of Wilson disease mutations in copper binding domain of ATP7B gene. by Bushra Gul, Sabika Firasat, Raeesa Tehreem, Tayyaba Shan, Kiran Afshan

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Mutation screening of the CYP1B1 gene reveals thirteen novel disease-causing variants in consanguineous Pakistani families causing primary congenital glaucoma. by Raeesa Tehreem, Anam Arooj, Sorath Noorani Siddiqui, Shagufta Naz, Kiran Afshan, Sabika Firasat

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Mutation screening of the CYP1B1 gene reveals thirteen novel disease-causing variants in consanguineous Pakistani families causing primary congenital glaucoma by Raeesa Tehreem, Anam Arooj, Sorath Noorani Siddiqui, Shagufta Naz, Kiran Afshan, Sabika Firasat

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Exome Sequencing Identified Molecular Determinants of Retinal Dystrophies in Nine Consanguineous Pakistani Families by Raeesa Tehreem, Iris Chen, Mudassar Raza Shah, Yumei Li, Muzammil Ahmad Khan, Kiran Afshan, Rui Chen, Sabika Firasat

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