Результати пошуку - Odile Boute‐Bénéjean
- Показ 1 - 3 результатів із 3
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1
HNRNPR Variants that Impair Homeobox Gene Expression Drive Developmental Disorders in Humans за авторством Floor A.M. Duijkers, Andrew McDonald, Georges E. Janssens, Marco Lezzerini, Aldo Jongejan, Silvana van Koningsbruggen, Wendela G. Leeuwenburgh-Pronk, Marcin W. Włodarski, Sébastien Moutton, Frédéric Tran Mau‐Them, Christel Thauvin‐Robinet, Laurence Faivre, Kristin G. Monaghan, Thomas Smol, Odile Boute‐Bénéjean, Roger L. Ladda, Susan L. Sell, Ange‐Line Bruel, Riekelt H. Houtkooper, Alyson W. MacInnes
Опубліковано 2019Artigo -
2
Molecular findings and clinical data in a cohort of 150 patients with anophthalmia/microphthalmia за авторством Nicolas Chassaing, Alexandre Causse, Adeline Vigouroux, Andrée Delahaye‐Duriez, Jean‐Luc Alessandri, Odile Boespflug‐Tanguy, Odile Boute‐Bénéjean, Hélène Dollfus, Bénédicte Duban‐Bedu, Brigitte Gilbert‐Dussardier, Fabienne Giuliano, M. Gonzalés, Muriel Holder‐Espinasse, Bertrand Isidor, M. Jacquemont, Didier Lacombe, Dominique Martin–Coignard, M. Mathieu‐Dramard, Sylvie Odent, Olivier Picone, L Pinson, Chloé Quēlin, Sabine Sigaudy, Annick Toutain, Christel Thauvin-Robinet, Josseline Kaplan, Patrick Calvas
Опубліковано 2013Artigo -
3
Delineation of<i>EFTUD2</i>Haploinsufficiency-Related Phenotypes Through a Series of 36 Patients за авторством Daphné Lehalle, Christopher T. Gordon, Myriam Oufadem, Géraldine Goudefroye, Lucile Boutaud, Jean‐Luc Alessandri, Neus Baena, Geneviève Baujat, Clarisse Baumann, Odile Boute‐Bénéjean, Roseline Caumes, Christine Decaestecker, Dominique Gaillard, Alice Goldenberg, Marie Gonzalès, Muriel Holder‐Espinasse, Marie‐Line Jacquemont, Didier Lacombe, Sylvie Manouvrier‐Hanu, Sandrine Marlin, Michèle Mathieu‐Dramard, G Morin, Laurent Pasquier, Florence Petit, Marlène Rio, Robert Śmigiel, Christel Thauvin‐Robinet, Alexandre Vasiljevic, Alain Verloès, Valérie Malan, Arnold Münnich, Loïc de Pontual, Michel Vekemans, Stanislas Lyonnet, Tania Attié‐Bitach, Jeanne Amiel
Опубліковано 2014Artigo
Інструменти для пошуку:
Пов'язані теми
Biology
Gene
Genetics
Homeobox
Phenotype
Transcription factor
Anatomy
Anophthalmia
Atresia
CHARGE syndrome
Cell biology
Choanal atresia
Ciliopathies
Dermatology
Genetic heterogeneity
Haploinsufficiency
Hox gene
Intellectual disability
Medicine
Microcephaly
Microphthalmia
PAX6
RNA
RNA splicing
SOX2
Testis determining factor
Y chromosome