Johanna M. van Hagen

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Active since

2003

Affiliations

Amsterdam UMC Location Vrije Universiteit Amsterdam(Current)

Radboud University Nijmegen

Radboud University Medical Center

Vrije Universiteit Amsterdam

Erasmus MC

Johanna M. van Hagen is an author at Amsterdam UMC Location Vrije Universiteit Amsterdam specializing in genetics, life sciences, and medical genetics.

Publications per year

2003–2024

Publications

CHARGE syndrome: the phenotypic spectrum of mutations in the <i>CHD7</i> gene

M.C.J. Jongmans, R.J.C. Admiraal, Kim P. van der Donk et al. · Journal of Medical Genetics · 2005 · 461 citations · Full text

Medicine, Genetics, Molecular Genetics +16

Heterozygous Germline Mutations in the CBL Tumor-Suppressor Gene Cause a Noonan Syndrome-like Phenotype

Simone Martinelli, Alessandro De Luca, Emilia Stellacci et al. · The American Journal of Human Genetics · 2010 · 259 citations · Full text

Life Sciences, Genetics, Molecular Genetics +14

Stickler syndrome caused by COL2A1 mutations: genotype–phenotype correlation in a series of 100 patients

Kristien Hoornaert, Inge Vereecke, Chantal Dewinter et al. · European Journal of Human Genetics · 2010 · 152 citations · Full text

Life Sciences, Genetics, Molecular Genetics +10

Diagnostic exome sequencing in 266 Dutch patients with visual impairment

Lonneke Haer‐Wigman, Wendy AG van Zelst-Stams, Rolph Pfundt et al. · European Journal of Human Genetics · 2017 · 151 citations · Full text

Medicine, Genetics, Molecular Genetics +15

Homozygous and Compound Heterozygous Mutations in ZMPSTE24 Cause the Laminopathy Restrictive Dermopathy

Casey L. Moulson, Gloriosa Go, Jennifer M. Gardner et al. · Journal of Investigative Dermatology · 2005 · 150 citations · Full text

Medicine, Genetics, Molecular Genetics +5

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