Patrick NITSCHKE
Bioinformatique
Equipe
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FabienneJabot-HaninDr, Analyse de données génomiques - Génétique statistique - Plateforme de bioinformatique
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Publications scientifiques
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2019Journal (source)J. Invest. Dermatol.
A TP63 Mutation Causes Prominent Alopecia with Mild Ectodermal Dysplasia.
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2018Journal (source)J. Invest. Dermatol.
Mutations in PERP Cause Dominant and Recessive Keratoderma.
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2018Journal (source)Am. J. Hum. Genet.
NDUFB8 Mutations Cause Mitochondrial Complex I Deficiency in Individuals with...
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2017Journal (source)Am. J. Hum. Genet.
FDXR Mutations Cause Sensorial Neuropathies and Expand the Spectrum of Mitoch...
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2017Journal (source)J Clin Immunol
Neutropenia in Patients with Common Variable Immunodeficiency: a Rare Event A...
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2015Journal (source)Am. J. Hum. Genet.
Mutations in the endothelin receptor type A cause mandibulofacial dysostosis ...
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2013Journal (source)Am. J. Hum. Genet.
Mutations in endothelin 1 cause recessive auriculocondylar syndrome and domin...
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2011Journal (source)Nat Genet
KIF7 mutations cause fetal hydrolethalus and acrocallosal syndromes.