Uzma Abdullah - PMAS Pir Mehr Ali Shah Arid Agr Univ Rawalpindi, Univ Inst Biochem & Biotechnol, Rawalpindi, Pakistan

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论文共 47 篇作者统计合作学者相似作者

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Whole Exome Sequencing Identifies Variable Expressivity of CLN6 Variants in Progressive Myoclonic Epilepsy Affected Families

Muhammad Ilyas, Faiza Tariq,Rafaqat Ishaq,Umme Habiba,Farah Bibi,Sadiq Noor Khan, Yasir Ali, Shehzad Haider,Stephanie Efthymiou,Uzma Abdullah,Ghazala Kaukab Raja,Pakeeza Arzoo Shaiq

EPILEPSY RESEARCH (2024)

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Biallelic EPB41L3 Variants Underlie a Developmental Disorder with Seizures and Myelination Defects

Brain (2024)

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Clinical and Neurogenetic Characterisation of Autosomal Recessive RBL2-associated Progressive Neurodevelopmental Disorder

medRxiv the preprint server for health sciences (2024)

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Whole-Exome Sequencing Identifies GYS2 Biallelic Variants in Individuals with Suspected Epilepsy

Muhammad Ilyas,Dorothea Holzwarth,Rafaqat Ishaq, Yasir Ali,Umme Habiba,Asad Mehmood Raja,Sadia Saeed,Uzma Abdullah,Sadiq Noor Khan,Ata Ullah,Ghazala Kaukab Raja,Shahid Mehmood Baig,Walid Fazeli,Wolfram S. Kunz,Pakeeza Arzoo Shaiq

SEIZURE-EUROPEAN JOURNAL OF EPILEPSY（2024）

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Biallelic Variants in GET4 Cause Developmental Disabilities with a Variable Degree of Phenotypic Spectrum

Ambrin Fatima,Guillaume Banneau, Sohana Hashmi,Justyna Iwaszkiewicz,Sophie Julia, Rabab Ibrahim,Muhammad Jameel,Ayaz Khan,Uzma Abdullah,Shahid M. Baig,Mathias Toft, Zafar Iqbal

EUROPEAN JOURNAL OF HUMAN GENETICS (2024): 473-473

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Consanguinity and Occurrence of Genetic Disorders in District Attock

Ummara Rafi, S. Morad Hameed, Naheed Malik, Muhammad Uzair Awan,Shahid Mahmood Baig,Uzma Abdullah

USA-China business reviewno. 1 (2023)

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Genetic Investigation of Consanguineous Pakistani Families Segregating Rare Spinocerebellar Disorders

Saadia Maryam Saadi,Elisa Cali, Lubaba Bintee Khalid,Hammad Yousaf, Ghazala Zafar,Haq Nawaz Khan,Muhammad Sher,Barbara Vona,Uzma Abdullah,Naveed Altaf Malik,Joakim Klar,Stephanie Efthymiou,Niklas Dahl,Henry Houlden,Mathias Toft,Shahid Mahmood Baig,Ambrin Fatima,Zafar Iqbal

Genesno. 7 (2023): 1404-1404

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Biallelic mutations in CACTIN encoding component of spliceosome machinery cause severe intellectual disability, speech impairment and epilepsy

Uzma Abdullah,Maria Asif, Maryam Anayat, Ghulam Nasseer Udin,Muhammad Sajid Hussain

EUROPEAN JOURNAL OF HUMAN GENETICS (2023): 465-465

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Whole-Exome Sequencing of Pakistani Consanguineous Families Identified Pathogenic Variants in Genes of Intellectual Disability

Maria Asif, Maryam Anayat, Faiza Tariq, Tanzeela Noureen, Ghulam Naseer Ud Din,Christian Becker,Kerstin Becker,Holger Thiele,Ehtisham ul Haq Makhdoom,Pakeeza Arzoo Shaiq,Shahid M. Baig,Peter Nuernberg,Muhammad Sajid Hussain,Ghazala Kaukab Raja,Uzma Abdullah

GENES（2023）

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