Concepedia

Rizwan Mumtaz

RM

Statistics

Publications

5

Citations

251

H-Index

5

Active since

2011

Affiliations

Jena University Hospital(Current)

University of Health Sciences Lahore

Hospital Universitario Central de Asturias

Friedrich Schiller University Jena

University of Cologne

Rizwan Mumtaz is an author at Jena University Hospital specializing in life sciences, molecular genetics, and genetics.

Publications per year

2011–2016

5

Publications

5

A spastic paraplegia mouse model reveals REEP1-dependent ER shaping

Christian Beetz, Nicole Koch, Mukhran Khundadze et al. · Journal of Clinical Investigation · 2013 · 83 citations · Full text

, , +15

Mutations in GMPPA Cause a Glycosylation Disorder Characterized by Intellectual Disability and Autonomic Dysfunction

Katrin Koehler, Saqib Mahmood, Sebastian Gießelmann et al. · The American Journal of Human Genetics · 2013 · 75 citations · Full text

, , +15

Intercalated Cell Depletion and Vacuolar H+-ATPase Mistargeting in an Ae1 R607H Knockin Model

Rizwan Mumtaz, Francesco Trepiccione, J. Christopher Hennings et al. · Journal of the American Society of Nephrology · 2016 · 53 citations

, , +16

First <i>HPSE2</i> missense mutation in urofacial syndrome

Saqib Mahmood, Christian Beetz, MM Tahir et al. · Clinical Genetics · 2011 · 28 citations

, , +14

MLPA-based evidence for sequence gain: Pitfalls in confirmation and necessity for exclusion of false positives

Rita-Eva Varga, Rizwan Mumtaz, Amir Jahić et al. · Analytical Biochemistry · 2011 · 12 citations

, , +6

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