Zobrazeno 1 - 2
of 2
pro vyhledávání: '"Nadia El Khartoufi"'
Autor:
Louise Devisme, Jun-ichi Takanashi, Hülya Kayserili, Frédéric Huet, Jelena Martinovic, Catherine Noël, Tania Attié-Bitach, Muriel Holder, Nadia El Khartoufi, Estelle Lopez, Cédric Le Caignec, Jean-Baptiste Rivière, Pascale Kleinfinger, Ferechté Razavi, Hélène Ansart-Franquet, Nadège Gigot, Brunella Franco, Magali Avila, Irahara Kaori, Didier Lacombe, Julien Thevenon, Martine Le Merrer, Bernard Aral, Stanislas Lyonnet, Christel Thauvin-Robinet, Véronique Darmency-Stamboul, Bruno Reversade, Yeliz Güven, Lydie Burglen, Laurence Faivre, Lena Ho, Mohammad Shboul
Publikováno v:
Human genetics, 133(3), 367-377. Springer Verlag
Oral-facial-digital syndrome type VI (OFD VI) is a recessive ciliopathy defined by two diagnostic criteria: molar tooth sign (MTS) and one or more of the following: (1) tongue hamartoma (s) and/or additional frenula and/or upper lip notch; (2) mesoax
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4d7838c7e9039ef326fa2f88aada94b0
https://pure.amc.nl/en/publications/c5orf42-is-the-major-gene-responsible-for-ofd-syndrome-type-vi(c45c493e-f2d6-4cea-b8ab-595ca4b5a1f0).html
https://pure.amc.nl/en/publications/c5orf42-is-the-major-gene-responsible-for-ofd-syndrome-type-vi(c45c493e-f2d6-4cea-b8ab-595ca4b5a1f0).html
Autor:
Thierry Dupré, Nadia El Khartoufi, Sandrine Vuillaumier-Barrot, Nathalie Seta, Pascale de Lonlay, Ferechté Razavi, Tania Attié-Bitach, Raymonde Bouvier, Nadia Leticee, Bettina Bessieres-Grattagliano, Michel Vekemans, Yves Ville
Publikováno v:
Molecular genetics and metabolism. 101(2-3)
Hydrops fetalis (HF) is characterized by an accumulation of fluid in the extracellular compartments and in body cavities. Non-immune HF (NIHF) is caused by a wide variety of disorders and overall, 20-25% of NIHF remain unexplained. Inborn errors of m
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4dae0f6fac54315b4b57791cd55b6053
https://pubmed.ncbi.nlm.nih.gov/20638314
https://pubmed.ncbi.nlm.nih.gov/20638314
