Zobrazeno 1 - 4
of 4
pro vyhledávání: '"Siham Chafai Elalaoui"'
Autor:
Elisabet Ars, Claire Dossier, José Ballarín, Stéphanie Debette, Pierre Ronco, Eric Letouzé, Hanna Debiec, Tabassome Simon, Siham Chafai Elalaoui, Matthias Kretzler, Georges Deschênes, Marina Vivarelli, Manuela Colucci, Valery Elie, Matthew G. Sampson, Philippe Amouyel, Evelyne Jacqz-Aigrain, Christopher E. Gillies, Valérie Dubois, Francesco Emma, Abdelaziz Sefiani, Rosemary K B Putler
Publikováno v:
Journal of the American Society of Nephrology
Journal of the American Society of Nephrology, American Society of Nephrology, 2018, 29 (7), pp.2000-2013. ⟨10.1681/ASN.2017111185⟩
Journal of the American Society of Nephrology, 2018, 29 (7), pp.2000-2013. ⟨10.1681/ASN.2017111185⟩
JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY
r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
instname
Journal of the American Society of Nephrology, American Society of Nephrology, 2018, 29 (7), pp.2000-2013. ⟨10.1681/ASN.2017111185⟩
Journal of the American Society of Nephrology, 2018, 29 (7), pp.2000-2013. ⟨10.1681/ASN.2017111185⟩
JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY
r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
instname
Background Steroid-sensitive nephrotic syndrome (SSNS) is a childhood disease with unclear pathophysiology and genetic architecture. We investigated the genomic basis of SSNS in children recruited in Europe and the biopsy-based North American NEPTUNE
Autor:
Duangrurdee Wattanasirichaigoon, Frédérique Magdinier, Axel M. Hillmer, Mung Kei Kong, Sabine Sigaudy, Myriam Oufadem, Hicham Filali, Hülya Kayserili, Christopher T. Gordon, Denise Williams, Peter Nürnberg, Carine Bonnard, Stanislas Lyonnet, Camille Dion, Siham Chafai Elalaoui, Jeanne Amiel, Audrey S.M. Teo, Nobuhiko Okamoto, Bruno Reversade, Asif Javed, Dieter Meschede, Alex Magee, Abdelaziz Sefiani, Rachel E A Irving, Alexandra D. Gurzau, James M. Murphy, Nicola K. Ragge, Bernd Wollnik, Gökhan Tunçbilek, Koh-ichiro Yoshiura, Chalermpong Chatdokmaiprai, Tamara Beck, Hallvard Reigstad, Christine Bole-Feysot, Kelan Chen, Nicolas Lévy, Michael L. Cunningham, Nadine Rosin, Ruth McGowan, Holger Thiele, Janine Altmüller, Vinod Varghese, Nawfal Fejjal, Patrick Nitschké, Ilham Ratbi, Marnie E. Blewitt, Gökhan Yigit, Wolfgang Mühlbauer, Meriem Fikri, Shifeng Xue, S Faisal Ahmed
Publikováno v:
Nature Genetics
Nature Genetics, Nature Publishing Group, 2017, 49 (2), pp.249-255. 〈10.1038/ng.3765〉
Nature genetics, 49(2), 249-255. Nature Publishing Group
Nature Genetics, Nature Publishing Group, 2017, 49 (2), pp.249-255. ⟨10.1038/ng.3765⟩
Nature Genetics, 2017, 49 (2), pp.249-255. ⟨10.1038/ng.3765⟩
Nature Genetics, Nature Publishing Group, 2017, 49 (2), pp.249-255. 〈10.1038/ng.3765〉
Nature genetics, 49(2), 249-255. Nature Publishing Group
Nature Genetics, Nature Publishing Group, 2017, 49 (2), pp.249-255. ⟨10.1038/ng.3765⟩
Nature Genetics, 2017, 49 (2), pp.249-255. ⟨10.1038/ng.3765⟩
International audience; Bosma arhinia microphthalmia syndrome (BAMS) is an extremely rare and striking condition characterized by complete absence of the nose with or without ocular defects. We report here that missense mutations in the epigenetic re
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7a5d4299acf7797337cbb50e49b05342
https://hal.archives-ouvertes.fr/hal-01617529/document
https://hal.archives-ouvertes.fr/hal-01617529/document
Autor:
A Vanier, Amira Masri, Emilie Falconnet, Nadine Jalkh, Stylianos E. Antonarakis, Armand Bottani, Hanan Hamamy, Fatma Al-Jasmi, G Duriaux-Sail, Mari Nelis, Siv Fokstuen, Elisavet Stathaki, S Al-Hait, Stefania Gimelli, Periklis Makrythanasis, Siham Chafai Elalaoui, Mona Aglan, Sophia Kitsiou, E. Kanavakis, Federico Santoni, Lihadh Al-Gazali, N All-Allawi, Michel Guipponi, H Frissyra, Abdelaziz Sefiani, Frédérique Béna, Samia A. Temtamy, Stavroula Psoni, André Mégarbané, H Chaabouni Bouhamed, Maha S. Zaki
Publikováno v:
Archives of Disease in Childhood. 97:A121-A121
Consanguinity and inbreeding increase the sharing of alleles among individuals; thus a considerable number of autosomal recessive phenotypes occur in offspring(s) of consanguineous couples. We have collected samples from consanguineous families with
Autor:
Ilham Ratbi, Fatima Zahra Laarabi, Imane Cherkaoui Jaouad, Siham Chafai Elalaoui, Abdelaziz Sefiani, Soukaina Guaoua, Amina Barkat
Publikováno v:
BMC Genetics
Background Several pathogenesis and genetic factors influence predisposition to antituberculosis drug-induced hepatotoxicity (ATDH) especially for isoniazid (INH). However, the major susceptibility genes for ATDH are N-acetyltransferase 2 (NAT2) and