Zobrazeno 1 - 10
of 456
pro vyhledávání: '"Ozilou, C."'
Autor:
Khaddour, R., Smith, U., Baala, L., Martinovic, J., Clavering, D., Shaffiq, R., Ozilou, C., Cullinane, A., Kyttälä, M., Shalev, S., Audollent, S., D Humières, C., Kadhom, N., Esculpavit, C., Viot, G., Boone, C., Oien, C., Encha-Razavi, F., Batman, P. A., Bennett, C. P., Woods, C. G., Roume, J., Lyonnet, S., Génin, E., Le Merrer, M., Munnich, A., Gubler, M. C., Cox, P., Macdonald, F., Vekemans, M., Johnson, C. A., Tania ATTIE-BITACH
Publikováno v:
Scopus-Elsevier
Meckel syndrome (MKS) is a rare autosomal recessive lethal condition characterized by central nervous system malformations (typically occipital meningoencephalocele), postaxial polydactyly, multicystic kidney dysplasia, and ductal proliferation in th
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::3d4a600792734fe6ac45edebe55e1ea4
https://pubmed.ncbi.nlm.nih.gov/17397051
https://pubmed.ncbi.nlm.nih.gov/17397051
Autor:
Wolf MTF; Division of Pediatric Nephrology, University of Texas, Southwestern Medical Center, 5323 Harry Hines Blvd., Dallas, TX, 75390, USA. matthias.wolf@utsouthwestern.edu.; Division of Pediatric Nephrology, C.S. Mott Children's Hospital, University of Michigan, 1150 W. Medical Center Dr, Ann Arbor, MI, 48109, USA. matthias.wolf@utsouthwestern.edu., Bonsib SM; Arkana Laboratories, Little Rock, AR, USA., Larsen CP; Arkana Laboratories, Little Rock, AR, USA., Hildebrandt F; Division of Nephrology, Boston Children's Hospital, Boston, USA.
Publikováno v:
Pediatric nephrology (Berlin, Germany) [Pediatr Nephrol] 2024 Jul; Vol. 39 (7), pp. 1977-2000. Date of Electronic Publication: 2023 Nov 06.
Autor:
Joly, G., Lapierre, J. - M., Ozilou, C., Gosset, P., Aurias, A, de Blois, M. - C., Prieur, M., Raoul, O., Munnich, A., Romana, S, Colleaux, Laurence, Vekemans, M., Turleau, C.
Publikováno v:
Clinical Genetics
Clinical Genetics, Wiley, 2001, 60 (3), pp.212-9. ⟨10.1034/j.1399-0004.2001.600307.x⟩
Clinical Genetics, Wiley, 2001, 60 (3), pp.212-9. ⟨10.1034/j.1399-0004.2001.600307.x⟩
International audience; Segmental aneusomy for small chromosomal regions has been shown to be a common cause of mental retardation and multiple congenital anomalies. A screening method for such chromosome aberrations that are not detected using stand
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::de7dc9c0d004e37120b9d5b713224269
https://pubmed.ncbi.nlm.nih.gov/11595023
https://pubmed.ncbi.nlm.nih.gov/11595023
Autor:
Sp, Romana, Gosset P, Elghezal H, Le Lorc'h M, Ozilou C, Jm, Lapierre, damien sanlaville, Brisset S, Turleau C, Vekemans M
Publikováno v:
Europe PubMed Central
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::dbaf8131767e066898700420ac0fe179
https://pubmed.ncbi.nlm.nih.gov/11240520
https://pubmed.ncbi.nlm.nih.gov/11240520
Autor:
Sanlaville, D., Etchevers, H. C., Gonzales, M., Martinovic, J., Clément-Ziza, M., Delezoide, A.-L., Aubry, M.-C., Pelet, A., Chemouny, S., Cruaud, C., Audollent, S., Esculpavit, C., Goudefroye, G., Ozilou, C., Fredouille, C., Joye, N., Morichon-Delvallez, N., Dumez, Y., Weissenbach, J., Munnich, A.
Publikováno v:
Journal of Medical Genetics; Mar2006, Vol. 43 Issue 3, p211-217, 7p, 2 Black and White Photographs, 1 Diagram, 1 Chart
Autor:
Ordoñez-Razo, Rosa María1 (AUTHOR) romaorr@yahoo.com.mx, Gutierrez-López, Yessica1 (AUTHOR) psic_ggr@hotmail.com, Araujo-Solis, María Antonieta2 (AUTHOR) tonyarasol@yahoo.com.mx, Benitez-King, Gloria3 (AUTHOR) bekin54@hotmail.com, Ramírez-Sánchez, Israel4 (AUTHOR) israel.ramirez14@hotmail.com, Galicia, Gabriela1 (AUTHOR)
Publikováno v:
International Journal of Molecular Sciences. Apr2024, Vol. 25 Issue 7, p3953. 14p.
Autor:
Rio, M., Molinari, F., Heuertz, S., Ozilou, C., Gasser, P., Raoul, O., Cormier-Daire, V., Amiel, J., Lyonnet, S., Le Merrer, M., Turleau, C., De Blois, M.-C., Prieur, M., Romana, S., Vekemans, M., Munnich, A., Colleaux, L.
Publikováno v:
Journal of Medical Genetics; Apr2002, Vol. 39 Issue 4, p266-270, 5p, 1 Black and White Photograph, 2 Charts, 1 Graph
Autor:
Sanlaville, D, Romana, SP, Lapierre, JM, Amiel, J, Genevieve, D, Ozilou, C, Le Lorch, M, Brisset, S, Gosset, P, Baumann, C, Turleau, C, Lyonnet, S, Vekemans, M
Publikováno v:
Clinical Genetics; Feb2002, Vol. 61 Issue 2, p135-138, 4p, 1 Diagram, 1 Chart
Akademický článek
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Autor:
Lin, Qing1 (AUTHOR) 1293461527@qq.com, Liang, Chunya1 (AUTHOR), Du, Bole2 (AUTHOR), Li, Lijiao1 (AUTHOR), Li, Hong2 (AUTHOR), Mai, Xiaolan1 (AUTHOR), Li, Sheng2 (AUTHOR), Xu, Wenyu1 (AUTHOR), Wu, Cunzhen1 (AUTHOR), Zeng, Mi2 (AUTHOR)
Publikováno v:
BMC Medical Genomics. 2/21/2024, Vol. 17 Issue 1, p1-11. 11p.