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Ben Hamel

Research Profile

Physiology

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DNA Mutational Analysis

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Publications

TOP 3
Zafar Iqbal; Pilar Cejudo-Martin; Arjan de Brouwer; Bert van der Zwaag; Pilar Ruiz-Lozano; M Cecilia Scimia; James D Lindsey; Robert Weinreb; Beate Albrecht; Andre Megarbane; Yasemin Alanay; Ziva Ben-Neriah; Mariangela Amenduni; Rosangela Artuso; Joris Veltman; Ellen van Beusekom; Astrid Oudakker; José Luis Millán; Raoul Hennekam; Ben Hamel; Sara A Courtneidge; Hans van Bokhoven
Disruption of the podosome adaptor protein TKS4 (SH3PXD2B) causes the skeletal dysplasia, eye, and cardiac abnormalities of Frank-Ter Haar Syndrome.
Eva Morava; Ben Hamel; Frans A Hol; Richard J T Rodenburg; jan smeitink
Mitochondrial dysfunction in Stüve-Wiedemann syndrome in a patient carrying an ND1 gene mutation.
Tuula Rinne; Ben Hamel; Hans van Bokhoven; Han G Brunner
Pattern of p63 mutations and their phenotypes--update.

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All Publications

2010: Zafar Iqbal; Pilar Cejudo-Martin; Arjan de Brouwer; Bert van der Zwaag; Pilar Ruiz-Lozano; M Cecilia Scimia; James D Lindsey; Robert Weinreb; Beate Albrecht; Andre Megarbane; Yasemin Alanay; Ziva Ben-Neriah; Mariangela Amenduni; Rosangela Artuso; Joris Veltman; Ellen van Beusekom; Astrid Oudakker; José Luis Millán; Raoul Hennekam; Ben Hamel; Sara A Courtneidge; Hans van Bokhoven
Disruption of the podosome adaptor protein TKS4 (SH3PXD2B) causes the skeletal dysplasia, eye, and cardiac abnormalities of Frank-Ter Haar Syndrome.
American journal of human genetics 2010;86(2):254-61.
2006: Eva Morava; Ben Hamel; Frans A Hol; Richard J T Rodenburg; jan smeitink
Mitochondrial dysfunction in Stüve-Wiedemann syndrome in a patient carrying an ND1 gene mutation.
American journal of medical genetics. Part A 2006;140(20):2248-50.
2006: Tuula Rinne; Ben Hamel; Hans van Bokhoven; Han G Brunner
Pattern of p63 mutations and their phenotypes--update.
American journal of medical genetics. Part A 2006;140(13):1396-406.
2005: Vedat Topsakal; Ronald Pennings; Heleen te Brinke; Ben Hamel; Patrick Huygen; Hannie Kremer; Cor W R J Cremers
Phenotype determination guides swift genotyping of a DFNA2/KCNQ4 family with a hot spot mutation (W276S).
Otology & neurotology : official publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology 2005;26(1):52-8.
2004: Riko Klootwijk; Pascal M W Groenen; Mascha M V A P Schijvenaars; Frans A Hol; Ben Hamel; huub straatman; Régine P M Steegers-Theunissen; Edwin C M Mariman; Barbara Franke
Genetic variants in ZIC1, ZIC2, and ZIC3 are not major risk factors for neural tube defects in humans.
American journal of medical genetics. Part A 2004;124A(1):40-7.
2003: Riko Klootwijk; Frans A Hol; M Wu; J J H T Willemen; Pascal M W Groenen; Ben Hamel; huub straatman; Régine P M Steegers-Theunissen; Edwin C M Mariman; Barbara Franke
Genetic variation analysis of MLP, TFAP2A, and CSK in patients with neural tube defects.
Journal of medical genetics 2003;40(4):e43.
1998: J L C M Loeffen; jan smeitink; Ralf H Triepels; Roel Smeets; Markus Schuelke; Rob C A Sengers; Frans J M Trijbels; Ben Hamel; Reinier A Mullaart; Lambert van Den Heuvel
The first nuclear-encoded complex I mutation in a patient with Leigh syndrome.
American journal of human genetics 1998;63(6):1598-608.