T. Jaworek

发表

Molecular genetic studies and delineation of the oculocutaneous albinism phenotype in the Pakistani population

S. Riazuddin, Z. Ahmed, T. Jaworek, 2012, Orphanet Journal of Rare Diseases.

Familial Hypercholesterolemia and Type 2 Diabetes in the Old Order Amish

E. Zeggini, A. Shuldiner, B. Mitchell, 2017, Diabetes.

Exome Array Analysis of Early-Onset Ischemic Stroke

Qiong Yang, S. Kittner, James G. Wilson, 2020, Stroke.

Contribution of Common Genetic Variants to Risk of Early-Onset Ischemic Stroke

C. Sudlow, J. Danesh, C. Gieger, 2022, Neurology.

Genetic studies of TYRP1 and SLC45A2 in Pakistani patients with nonsyndromic oculocutaneous albinism.

Z. Ahmed, T. Jaworek, T. Kausar, 2013, The Journal of investigative dermatology.

Inframe deletion of human ESPN is associated with deafness, vestibulopathy and vision impairment

S. Riazuddin, Z. Ahmed, Shaheen N. Khan, 2018, Journal of Medical Genetics.

USH1K, a novel locus for type I Usher syndrome, maps to chromosome 10p11.21-q21.1

S. Riazuddin, Z. Ahmed, Shaheen N. Khan, 2012, Journal of Human Genetics.

An Alteration in ELMOD3, an Arl2 GTPase-Activating Protein, Is Associated with Hearing Impairment in Humans

R. Kahn, S. Riazuddin, Shaheen N. Khan, 2013, PLoS genetics.

Genetic Contributions to Early and Late Onset Ischemic Stroke

C. Sudlow, J. Danesh, A. Peters, 2021, medRxiv.

Neuropathy target esterase impairments cause Oliver–McFarlane and Laurence–Moon syndromes

M. Dattani, T. Révész, V. Plagnol, 2014, Journal of Medical Genetics.

Genetics of the thrombomodulin-endothelial cell protein C receptor system and the risk of early-onset ischemic stroke

C. Sudlow, J. Danesh, M. Fornage, 2018, PloS one.