Identification of a novel missense mutation in NIPAL4 gene: First 3D model construction predicted its pathogenicity

by Sahar Laadhar, Riadh Ben Mansour, Slaheddine Marrakchi, Nabil Miled, Mariem Ennouri, Judith Fischer, Mohamed Ali Kaddechi, Hamida Turki, Faiza Fakhfakh
Published 2020-03-01

Thyroid involvement in Chanarin-Dorfman syndrome in adults in the largest series of patients carrying the same founder mutation in ABHD5 gene

by Nacim Louhichi, Emna Bahloul, Slaheddine Marrakchi, Houda Ben Othman, Chahnez Triki, Kawthar Aloulou, Lobna Trabelsi, Nadia Mahfouth, Zeineb Ayadi-Mnif, Leila Keskes, Faiza Fakhfakh, Hamida Turki
Published 2019-05-01

Correction: Mutations in CERS3 Cause Autosomal Recessive Congenital Ichthyosis in Humans

by Franz P. W. Radner, Slaheddine Marrakchi, Peter Kirchmeier, Gwang-Jin Kim, Florence Ribierre, Bourane Kamoun, Leila Abid, Michael Leipoldt, Hamida Turki, Werner Schempp, Roland Heilig, Mark Lathrop, Judith Fischer
Published 2013-06-01

Correction: Mutations in Cause Autosomal Recessive Congenital Ichthyosis in Humans.

by Franz P. W. Radner, Slaheddine Marrakchi, Peter Kirchmeier, Gwang-Jin Kim, Florence Ribierre, Bourane Kamoun, Leila Abid, Michael Leipoldt, Hamida Turki, Werner Schempp, Roland Heilig, Mark Lathrop, Judith Fischer
Published 2013-06-01

Mutations in CERS3 cause autosomal recessive congenital ichthyosis in humans.

by Franz P W Radner, Slaheddine Marrakchi, Peter Kirchmeier, Gwang-Jin Kim, Florence Ribierre, Bourane Kamoun, Leila Abid, Michael Leipoldt, Hamida Turki, Werner Schempp, Roland Heilig, Mark Lathrop, Judith Fischer
Published 2013-06-01

Study protocol of the global Effisayil 1 Phase II, multicentre, randomised, double-blind, placebo-controlled trial of spesolimab in patients with generalized pustular psoriasis pre...

by Hamida Turki, Akimichi Morita, Tsen-Fang Tsai, Siew Eng Choon, Mark G Lebwohl, Slaheddine Marrakchi, A David Burden, Alexander A Navarini, Jinhua Xu, Sushmita Rajeswari, Hongjie Deng, Kay Tetzlaff, Christian Thoma, Hervé Bachelez
Published 2021-03-01