Zobrazeno 1 - 3
of 3
pro vyhledávání: '"MESH: Exons / genetics"'
Autor:
Severino-Freire, M., Bing Lecointe, A.-C., Bourrat, E., Pichery, M., Jonca, N., Chiaverini, C., Mazereeuw-Hautier, J.
Publikováno v:
Annales de Dermatologie et de Vénéréologie
Annales de Dermatologie et de Vénéréologie, Elsevier Masson, 2018, 145 (10), pp.603-606. ⟨10.1016/j.annder.2018.02.019⟩
Annales de Dermatologie et de Vénéréologie, Elsevier Masson, 2018, 145 (10), pp.603-606. ⟨10.1016/j.annder.2018.02.019⟩
International audience; Background: Ichthyosis prematurity syndrome is a rare syndromic form of ichthyosis caused by mutations in FATP4, which plays a central role in the transport and activation of fatty acids in the epidermis and in epidermal barri
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::70dd5a75f490de0ecaa9eee8296470a9
https://hal-univ-tlse3.archives-ouvertes.fr/hal-03462795
https://hal-univ-tlse3.archives-ouvertes.fr/hal-03462795
Autor:
Warren J. Leonard, Nima Rezaei, Kathryn Payne, Isabelle Meyts, Laurent Abel, Cindy S. Ma, Marianne Leruez-Ville, Janet Chou, Alain Hovnanian, Jian-Xin Lin, Simon J. Pelham, Danielle T. Avery, Matthieu Bouaziz, Bethany Pillay, Tanwir Habib, Anne Puel, Sevgi Keles, Juan Li, Isabelle Pellier, Jamel El-Benna, Bernhard Fleckenstein, Ahmet Ozen, Vivien Béziat, Ingrid Müller-Fleckenstein, Damien Chaussabel, Samaneh Zoghi, Yi Wang, Paul Gray, Matthias Titeux, Yoann Zerbib, Talal A. Chatila, Marie-Alexandra Alyanakian, Capucine Picard, Orli Wargon, Ayper Somer, Marie-Olivia Chandesris, Thibaut Leclercq, Ibtihal Benhsaien, Aziz Belkadi, Jean-Laurent Casanova, Romain Lévy, Peng Li, Geetha Rao, Ai Ing Lim, James P. Di Santo, Nico Marr, Sylvie Fraitag, Frédégonde About, Elissa K. Deenick, Bertrand Boisson, Jacinta Bustamante, Mélanie Migaud, Bodo Grimbacher, Aziz Bousfiha, Fatima Ailal, Safa Baris, Antoine Guérin, Stuart G. Tangye, Romain Guery, Ning Du, Vimel Rattina
Publikováno v:
Science Immunology
Science Immunology, American Association for the Advancement of Science, 2018, 3 (24), pp.eaat4956. ⟨10.1126/sciimmunol.aat4956⟩
Science Immunology, 2018, 3 (24), pp.eaat4956. ⟨10.1126/sciimmunol.aat4956⟩
Science Immunology, American Association for the Advancement of Science, 2018, 3 (24), pp.eaat4956. ⟨10.1126/sciimmunol.aat4956⟩
Science Immunology, 2018, 3 (24), pp.eaat4956. ⟨10.1126/sciimmunol.aat4956⟩
Comment in :Who regulates whom: ZNF341 is an additional player in the STAT3/TH17 song. [Sci Immunol. 2018]; International audience; Heterozygosity for human signal transducer and activator of transcription 3 (STAT3) dominant-negative (DN) mutations u
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a014e03bf19bbdfb4eb205a53e190a3a
https://doi.org/10.1126/sciimmunol.aat4956
https://doi.org/10.1126/sciimmunol.aat4956
Autor:
Henri Wajcman, Abderraouf Ghanem, Kamran Moradkhani, Imen Moumni, Salem Abbes, Claude Préhu, Raouf Hafsia, Ikbel Benmansour
Publikováno v:
Blood Cells, Molecules and Diseases
Blood Cells, Molecules and Diseases, Elsevier, 2012, 50 (2), pp.110-114. ⟨10.1016/j.bcmd.2012.08.005⟩
Blood Cells, Molecules and Diseases, Elsevier, 2012, 50 (2), pp.110-114. ⟨10.1016/j.bcmd.2012.08.005⟩
We screened 423 patients referred to our laboratory after hemolysis triggered by fava beans ingestion, neonatal jaundice or drug hemolysis. Others were asymptomatic but belonged to a family with a history of G6PD deficiency. The determination of enzy
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4c710844fc8cf4eee1ed7d5a2a7dae1b
https://hal-riip.archives-ouvertes.fr/pasteur-00732993/document
https://hal-riip.archives-ouvertes.fr/pasteur-00732993/document