Concepedia

Sharita Timal

ST

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Publications

12

Citations

1.2K

H-Index

12

Active since

2006

Affiliations

Radboud University Nijmegen(Current)

Radboud University Medical Center

Radboud Institute for Molecular Life Sciences

University Medical Center Groningen

Tulane University

Sharita Timal is an author at Radboud University Nijmegen specializing in life sciences, genetics, and molecular biology.

Publications per year

2006–2020

12

Publications

12

Multiple Phenotypes in Phosphoglucomutase 1 Deficiency

Laura C. Tegtmeyer, Stephan Rust, Monique van Scherpenzeel et al. · New England Journal of Medicine · 2014 · 285 citations · Full text

, , +17

Gene identification in the congenital disorders of glycosylation type I by whole-exome sequencing

Sharita Timal, Alexander Hoischen, Ludwig Lehle et al. · Human Molecular Genetics · 2012 · 171 citations

, , +14

ATP6AP1 deficiency causes an immunodeficiency with hepatopathy, cognitive impairment and abnormal protein glycosylation

Eric J. R. Jansen, Sharita Timal, Margret Ryan et al. · Nature Communications · 2016 · 150 citations · Full text

, , +13

CCDC115 Deficiency Causes a Disorder of Golgi Homeostasis with Abnormal Protein Glycosylation

Jos C. Jansen, Sebahattin Çirak, Monique van Scherpenzeel et al. · The American Journal of Human Genetics · 2016 · 98 citations · Full text

, , +14

TMEM199 Deficiency Is a Disorder of Golgi Homeostasis Characterized by Elevated Aminotransferases, Alkaline Phosphatase, and Cholesterol and Abnormal Glycosylation

Jos C. Jansen, Sharita Timal, Monique van Scherpenzeel et al. · The American Journal of Human Genetics · 2016 · 89 citations · Full text

, , +9

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