Uzma Abdullah

6PUBLICATIONS
24CO-AUTHORS
Neurology and neuromuscular diseasesMedical mycologyGene mappingGene expression (incl. microarray and other genome-wide approaches)Medical infection agents (incl. prions)
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Publications (6)

|Jul 29, 2023
Genetic Investigation of Consanguineous Pakistani Families Segregating Rare Spinocerebellar Disorders.

Saadia Maryam Saadi, Elisa Cali, Lubaba Bintee Khalid

|Feb 25, 2023
Congenital Microcephaly: A Debate on Diagnostic Challenges and Etiological Paradigm of the Shift from Isolated/Non-Syndromic to Syndromic Microcephaly.

Maria Asif, Uzma Abdullah, Peter Nürnberg

|Jan 21, 2023
Whole-Exome Sequencing of Pakistani Consanguineous Families Identified Pathogenic Variants in Genes of Intellectual Disability.

Maria Asif, Maryam Anayat, Faiza Tariq

|Oct 14, 2022
A Novel Missense Mutation in ERCC8 Co-Segregates with Cerebellar Ataxia in a Consanguineous Pakistani Family.

Zeeshan Gauhar, Leon Tejwani, Uzma Abdullah

|Dec 24, 2021
Rare Pathogenic Variants in Genes Implicated in Glutamatergic Neurotransmission Pathway Segregate with Schizophrenia in Pakistani Families.

Ambrin Fatima, Uzma Abdullah, Muhammad Farooq

|Jun 02, 2021
Modifier Genes in Microcephaly: A Report on WDR62, CEP63, RAD50 and PCNT Variants Exacerbating Disease Caused by Biallelic Mutations of ASPM and CENPJ.

Ehtisham Ul Haq Makhdoom, Syeda Seema Waseem, Maria Iqbal

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Frequent Collaborators

3 joint publications

Peter Nürnberg

3 joint publications

Muhammad Sajid Hussain

2 joint publications

Saadia Maryam Saadi

2 joint publications

Shahid Mahmood Baig