תוצאות חיפוש - Tania Attié‐Bitach
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JAGGED1 Gene Expression During Human Embryogenesis Elucidates the Wide Phenotypic Spectrum of Alagille Syndrome מאת Cécile Crosnier, Tania Attié‐Bitach, Férechté Encha-Razavi, Sophie Audollent, Fardouss Soudy, Michelle Hadchouel, Michèle Meunier–Rotival, Michel Vekemans
יצא לאור 2000Artigo -
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Expression of PKD1 and PKD2 Transcripts and Proteins in Human Embryo and during Normal Kidney Development מאת Véronique Chauvet, Feng Qian, Nicolas Boute, Yiqiang Cai, Bunyong Phakdeekitacharoen, Luiz F. Onuchic, Tania Attié‐Bitach, Liliane Guicharnaud, Olivier Devuyst, Gregory G. Germino, Marie‐Claire Gubler
יצא לאור 2002Artigo -
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Planar Cell Polarity Acts Through Septins to Control Collective Cell Movement and Ciliogenesis מאת Su Kyoung Kim, Asako Shindo, Tae Joo Park, Edwin C. Oh, Srimoyee Ghosh, Ryan S. Gray, Richard A. Lewis, Colin A. Johnson, Tania Attié‐Bitach, Nicholas Katsanis, John B. Wallingford
יצא לאור 2010Artigo -
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Temporal bone anomaly proposed as a major criteria for diagnosis of CHARGE syndrome מאת Jeanne Amiel, Tania Attié‐Bitach, R�mi Marianowski, Valérie Cormier‐Daire, V�ronique Abadie, Damien Bonnet, Marie Gonzalès, Sophie Chemouny, Françis Brunelle, Arnold Münnich, Y Manac'h, Stanislas Lyonnet
יצא לאור 2001Artigo -
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A Gene for Meckel Syndrome Maps to Chromosome 11q13 מאת J. Roume, Emmanuelle Génin, Valérie Cormier‐Daire, Hongqi Ma, Blandine Mehaye, Tania Attié‐Bitach, F. Razavi-Encha, Catherine Fallet‐Bianco, Annie Buénerd, Françoise Clerget‐Darpoux, Arnold Münnich, M. Le Merrer
יצא לאור 1998Artigo -
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Matthew-Wood Syndrome Is Caused by Truncating Mutations in the Retinol-Binding Protein Receptor Gene STRA6 מאת Christelle Golzio, Jelena Martinovic-Bouriel, Sophie Thomas, Soumaya Mougou-Zrelli, Bettina Grattagliano‐Bessières, Maryse Bonnière, S. Delahaye, Arnold Munnich, Férechté Encha-Razavi, Stanislas Lyonnet, Michel Vekemans, Tania Attié‐Bitach, Heather Etchevers
יצא לאור 2007Artigo -
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Polyalanine expansion and frameshift mutations of the paired-like homeobox gene PHOX2B in congenital central hypoventilation syndrome מאת Jeanne Amiel, Béatrice Laudier, Tania Attié‐Bitach, Ha Trang, Loïc de Pontual, Blanca Gener, Delphine Trochet, Heather Etchevers, Pierre F. Ray, Michel Simonneau, Michel Vekemans, Arnold Münnich, Claude Gaultier, Stanislas Lyonnet
יצא לאור 2003Artigo -
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Impaired Mitochondrial Glutamate Transport in Autosomal Recessive Neonatal Myoclonic Epilepsy מאת Florence Molinari, Annick Raas‐Rothschild, Marlène Rio, Giuseppe Fiermonte, Férechté Encha‐Razavi, Luigi Palmieri, Ferdinando Palmieri, Ziva Ben‐Neriah, Noman Kadhom, Michel Vekemans, Tania Attié‐Bitach, Arnold Münnich, Pierre Rustin, Laurence Colleaux
יצא לאור 2005Artigo -
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A cell fate decision map reveals abundant direct neurogenesis bypassing intermediate progenitors in the human developing neocortex מאת Laure Coquand, Clarisse Brunet Avalos, Anne‐Sophie Macé, Sarah Farcy, Amandine Di Cicco, Maruša Lampič, Ryszard Wimmer, B. Bessières, Tania Attié‐Bitach, Vincent Fraisier, Pierre Sens, Fabien Guimiot, Jean‐Baptiste Brault, Alexandre D. Baffet
יצא לאור 2024Artigo -
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Segregation at three loci explains familial and population risk in Hirschsprung disease מאת Stacey Gabriel, Rémi Salomon, Anna Pelet, Misha Angrist, Jeanne Amiel, Myriam Fornage, Tania Attié‐Bitach, Jane M. Olson, Robert M.W. Hofstra, Charles H.C.M. Buys, Julie Steffann, Arnold Münnich, Stanislas Lyonnet, Aravinda Chakravarti
יצא לאור 2002Artigo -
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Phenotypic spectrum of<i>STRA6</i>mutations: from Matthew-Wood syndrome to non-lethal anophthalmia מאת Nicolas Chassaing, Christelle Golzio, Sylvie Odent, Léopoldine Lequeux, Adeline Vigouroux, Jelena Martinovic-Bouriel, Francesco Danilo Tiziano, L. Masini, F. Piro, G Maragliano, Anne‐Lise Delezoide, Tania Attié‐Bitach, Sylvie Manouvrier‐Hanu, Heather Etchevers, Patrick Calvas
יצא לאור 2009Artigo -
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Identification of a novel ARL13B variant in a Joubert syndrome-affected patient with retinal impairment and obesity מאת Sophie Thomas, Vincent Cantagrel, Laura Mariani, Valérie Serre, Jieun Lee, Nadia Elkhartoufi, Pascale de Lonlay, Isabelle Desguerre, Arnold Münnich, Nathalie Boddaert, Stanislas Lyonnet, Michel Vekemans, Steven Lisgo, Tamara Caspary, Joseph G. Gleeson, Tania Attié‐Bitach
יצא לאור 2014Artigo -
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Clinical, genetic and neuropathological findings in a series of 138 fetuses with a corpus callosum malformation מאת Caroline Alby, Valérie Malan, Lucile Boutaud, M. Marangoni, Bettina Bessières, Maryse Bonnière, Amale Ichkou, Nadia Elkhartoufi, Nadia Bahi‐Buisson, Pascale Sonigo, A. Millischer, Sophie Thomas, Y. Ville, Michel Vekemans, Férechté Encha‐Razavi, Tania Attié‐Bitach
יצא לאור 2015Artigo
כלי חיפוש:
נושאים קשורים
Biology
Genetics
Gene
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Medicine
Mutation
Cilium
Cell biology
Ciliopathy
Ciliopathies
Joubert syndrome
Anatomy
Ciliogenesis
Internal medicine
Pathology
Neuroscience
Nephronophthisis
Bioinformatics
Endocrinology
Exome sequencing
Fetus
Missense mutation
Pregnancy
Genetic heterogeneity
Hypoplasia
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Polydactyly
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Intraflagellar transport