Author

Patrick Nitchké

Institutions: Institut des Maladies Génétiques Imagine, Université Paris Descartes

Observed institutions: Hôpital Necker-Enfants Malades, Assistance Publique – Hôpitaux de Paris, Institut des Maladies Génétiques Imagine, Université Paris Descartes

OpenAlex ID: A5025157652

Description of a Large Family with Autosomal Dominant Hypercholesterolemia Associated with theAPOEp.Leu167del Mutation

2012 · Marie Marduel, Khadija Ouguerram, et al. · Human Mutation · 133

Homozygous Truncating Variants in TBC1D23 Cause Pontocerebellar Hypoplasia and Alter Cortical Development

2017 · Ekaterina L. Ivanova, Frédéric Tran Mau-Them, et al. · The American Journal of Human Genetics · 52

Mild MDPL in a patient with a novel de novo missense variant in the Cys-B region of POLD1

2022 · Maya Chopra, Richard Caswell, et al. · European Journal of Human Genetics · 7

Works count: 3

Citation count: 192

H-index: 3

I10-index: 2