Concepedia

J. van Reeuwijk

JV

Statistics

Publications

3

Citations

504

H-Index

3

Active since

2005

Affiliations

Radboud University Medical Center(Current)

Radboud University Nijmegen

Hammersmith Hospital

University Medical Center Groningen

J. van Reeuwijk is an author at Radboud University Medical Center specializing in clinical genetics, genetics, and molecular diagnostics.

Top concepts

Publications per year

2005–2010

3

Publications

3

<i>POMT2</i> mutations cause α-dystroglycan hypoglycosylation and Walker-Warburg syndrome

J. van Reeuwijk · Journal of Medical Genetics · 2005 · 415 citations · Full text

POMT2 mutation in a patient with ‘MEB-like’ phenotype

Eugenio Mercuri, Adele D’Amico, Alessandra Tessa et al. · Neuromuscular Disorders · 2006 · 47 citations

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A homozygous <i>FKRP</i> start codon mutation is associated with Walker–Warburg syndrome, the severe end of the clinical spectrum

J. van Reeuwijk, MJW Olderode‐Berends, Christa van den Elzen et al. · Clinical Genetics · 2010 · 42 citations · Full text

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