Concepedia
Statistics
Publications
10
Citations
793
H-Index
Active since
1989
Affiliations
Radboud University Nijmegen(Current)
Radboud University Medical Center
University Medical Center Groningen
HG Brunner is an author at Radboud University Nijmegen specializing in genetics, life sciences, and human genetics.
Publications per year
1989–2013
Signs and symptoms of Duchenne muscular dystrophy and Becker muscular dystrophy among carriers in the Netherlands: a cohort study
EM Hoogerwaard, Egbert Bakker, PF Ippel et al. · The Lancet · 1999 · 239 citations
Medicine, Neurology, Neuromuscular Disorders +5
<i>CHD7</i> mutations in patients initially diagnosed with Kallmann syndrome – the clinical overlap with CHARGE syndrome
M.C.J. Jongmans, CMA Van Ravenswaaij‐Arts, Nelly Pitteloud et al. · Clinical Genetics · 2008 · 208 citations · Full text
Life Sciences, Endocrinology, Genetics +13
<i><scp>MLL2</scp></i> mutation detection in 86 patients with Kabuki syndrome: a genotype–phenotype study
Periklis Makrythanasis, Bregje W.M. van Bon, Marloes Steehouwer et al. · Clinical Genetics · 2013 · 103 citations · Full text
Life Sciences, Genetics, Molecular Genetics +17
Familial Kleefstra syndrome due to maternal somatic mosaicism for interstitial 9q34.3 microdeletions
MH Willemsen, Gea Beunders, Martin Callaghan et al. · Clinical Genetics · 2010 · 69 citations
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
Life Sciences, Genetics, Molecular Genetics +13
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