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The wide spectrum of tubulinopathies: what are the key features for the diagnosis?
The wide spectrum of tubulinopathies: what are the key features for the diagnosis?
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The wide spectrum of tubulinopathies: what are the key features for the diagnosis?

BAHI-BUISSON, Nadia ; POIRIER, Karine ; LASCELLES, Karine ; SOUVILLE, Isabelle ; BELDJORD, Cherif ; CHELLY, Jamel ; FOURNIOL, Franck ; SAILLOUR, Yoann ; VALENCE, Stéphanie ; LEBRUN, Nicolas ; HULLY, Marie ; BIANCO, Catherine Fallet ; BODDAERT, Nathalie ; ELIE, Caroline

Brain (London, England : 1878), 2014-06, Vol.137 (Pt 6), p.1676-1700 [Periódico revisado por pares]

Oxford: Oxford University Press

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2
Prenatal exome sequencing in 65 fetuses with abnormality of the corpus callosum: contribution to further diagnostic delineation
Prenatal exome sequencing in 65 fetuses with abnormality of the corpus callosum: contribution to further diagnostic delineation
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Prenatal exome sequencing in 65 fetuses with abnormality of the corpus callosum: contribution to further diagnostic delineation

Heide, Solveig ; Spentchian, Myrtille ; Valence, Stéphanie ; Buratti, Julien ; Mach, Corinne ; Lejeune, Elodie ; Olin, Valérie ; Massimello, Marta ; Lehalle, Daphné ; Mouthon, Linda ; Whalen, Sandra ; Faudet, Anne ; Mignot, Cyril ; Garel, Catherine ; Blondiaux, Eleonore ; Lefebvre, Mathilde ; Quenum-Miraillet, Geneviève ; Chantot-Bastaraud, Sandra ; Milh, Mathieu ; Bretelle, Florence ; Portes, Vincent des ; Guibaud, Laurent ; Putoux, Audrey ; Tsatsaris, Vassili ; Spodenkiewic, Marta ; Layet, Valérie ; Dard, Rodolphe ; Mandelbrot, Laurent ; Guet, Agnès ; Moutton, Sébastien ; Gorce, Magali ; Nizon, Mathilde ; Vincent, Marie ; Beneteau, Claire ; Rocchisanni, Marie-Amélie ; Benachi, Alexandra ; Saada, Julien ; Attié-Bitach, Tania ; Guilbaud, Lucie ; Maurice, Paul ; Friszer, Stéphanie ; Jouannic, Jean-Marie ; de Villemeur, Thierry Billette ; Moutard, Marie-Laure ; Keren, Boris ; Héron, Delphine

Genetics in medicine, 2020-11, Vol.22 (11), p.1887-1891 [Periódico revisado por pares]

United States: Elsevier Limited

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3
MYT1L-associated neurodevelopmental disorder: description of 40 new cases and literature review of clinical and molecular aspects
MYT1L-associated neurodevelopmental disorder: description of 40 new cases and literature review of clinical and molecular aspects
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MYT1L-associated neurodevelopmental disorder: description of 40 new cases and literature review of clinical and molecular aspects

Coursimault, Juliette ; Guerrot, Anne-Marie ; Morrow, Michelle M. ; Schramm, Catherine ; Zamora, Francisca Millan ; Shanmugham, Anita ; Liu, Shuxi ; Zou, Fanggeng ; Bilan, Frédéric ; Le Guyader, Gwenaël ; Bruel, Ange-Line ; Denommé-Pichon, Anne-Sophie ; Faivre, Laurence ; Tran Mau-Them, Frédéric ; Tessarech, Marine ; Colin, Estelle ; El Chehadeh, Salima ; Gérard, Bénédicte ; Schaefer, Elise ; Cogne, Benjamin ; Isidor, Bertrand ; Nizon, Mathilde ; Doummar, Diane ; Valence, Stéphanie ; Héron, Delphine ; Keren, Boris ; Mignot, Cyril ; Coutton, Charles ; Devillard, Françoise ; Alaix, Anne-Sophie ; Amiel, Jeanne ; Colleaux, Laurence ; Munnich, Arnold ; Poirier, Karine ; Rio, Marlène ; Rondeau, Sophie ; Barcia, Giulia ; Callewaert, Bert ; Dheedene, Annelies ; Kumps, Candy ; Vergult, Sarah ; Menten, Björn ; Chung, Wendy K. ; Hernan, Rebecca ; Larson, Austin ; Nori, Kelly ; Stewart, Sarah ; Wheless, James ; Kresge, Christina ; Pletcher, Beth A. ; Caumes, Roseline ; Smol, Thomas ; Sigaudy, Sabine ; Coubes, Christine ; Helm, Margaret ; Smith, Rosemarie ; Morrison, Jennifer ; Wheeler, Patricia G. ; Kritzer, Amy ; Jouret, Guillaume ; Afenjar, Alexandra ; Deleuze, Jean-François ; Olaso, Robert ; Boland, Anne ; Poitou, Christine ; Frebourg, Thierry ; Houdayer, Claude ; Saugier-Veber, Pascale ; Nicolas, Gaël ; Lecoquierre, François

Human genetics, 2022-01, Vol.141 (1), p.65-80 [Periódico revisado por pares]

Berlin/Heidelberg: Springer Berlin Heidelberg

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4
Gain-of-function variants in the ion channel gene TRPM3 underlie a spectrum of neurodevelopmental disorders
Gain-of-function variants in the ion channel gene TRPM3 underlie a spectrum of neurodevelopmental disorders
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Gain-of-function variants in the ion channel gene TRPM3 underlie a spectrum of neurodevelopmental disorders

Burglen, Lydie ; Van Hoeymissen, Evelien ; Qebibo, Leila ; Barth, Magalie ; Belnap, Newell ; Boschann, Felix ; Depienne, Christel ; De Clercq, Katrien ; Douglas, Andrew G L ; Fitzgerald, Mark P ; Foulds, Nicola ; Garel, Catherine ; Helbig, Ingo ; Held, Katharina ; Horn, Denise ; Janssen, Annelies ; Kaindl, Angela M ; Narayanan, Vinodh ; Prager, Christina ; Rupin-Mas, Mailys ; Afenjar, Alexandra ; Zhao, Siyuan ; Ramaekers, Vincent Th ; Ruggiero, Sarah M ; Thomas, Simon ; Valence, Stéphanie ; Van Maldergem, Lionel ; Rohacs, Tibor ; Rodriguez, Diana ; Dyment, David ; Voets, Thomas ; Vriens, Joris

eLife, 2023-01, Vol.12 [Periódico revisado por pares]

England: eLife Sciences Publications Ltd

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5
A decision tree for the genetic diagnosis of deficiency of adenosine deaminase 2 (DADA2): a French reference centres experience
A decision tree for the genetic diagnosis of deficiency of adenosine deaminase 2 (DADA2): a French reference centres experience
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A decision tree for the genetic diagnosis of deficiency of adenosine deaminase 2 (DADA2): a French reference centres experience

Rama, Mélanie ; Duflos, Claire ; Melki, Isabelle ; Bessis, Didier ; Bonhomme, Axelle ; Martin, Hélène ; Doummar, Diane ; Valence, Stéphanie ; Rodriguez, Diana ; Carme, Emilie ; Genevieve, David ; Heimdal, Ketil ; Insalaco, Antonella ; Franck, Nathalie ; Queyrel-Moranne, Viviane ; Tieulie, Nathalie ; London, Jonathan ; Uettwiller, Florence ; Georgin-Lavialle, Sophie ; Belot, Alexandre ; Koné-Paut, Isabelle ; Hentgen, Véronique ; Boursier, Guilaine ; Touitou, Isabelle ; Sarrabay, Guillaume

European journal of human genetics : EJHG, 2018-07, Vol.26 (7), p.960-971 [Periódico revisado por pares]

England: Nature Publishing Group

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6
Severe central apnea secondary to cerebellar dysplasia in a child: look past Joubert syndrome
Severe central apnea secondary to cerebellar dysplasia in a child: look past Joubert syndrome
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Severe central apnea secondary to cerebellar dysplasia in a child: look past Joubert syndrome

Taytard, Jessica ; Valence, Stéphanie ; Sileo, Chiara ; Rodriguez, Diana ; Bokov, Plamen ; Aubertin, Guillaume ; Corvol, Harriet ; Beydon, Nicole

Journal of clinical sleep medicine, 2020-12, Vol.16 (12), p.2113-2116

United States: American Academy of Sleep Medicine

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7
Expanding the spectrum of TUBA1A-related cortical dysgenesis to Polymicrogyria
Expanding the spectrum of TUBA1A-related cortical dysgenesis to Polymicrogyria
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Expanding the spectrum of TUBA1A-related cortical dysgenesis to Polymicrogyria

Poirier, Karine ; Saillour, Yoann ; Fourniol, Franck ; Francis, Fiona ; Souville, Isabelle ; Valence, Stéphanie ; Desguerre, Isabelle ; Marie Lepage, Jean ; Boddaert, Nathalie ; Line Jacquemont, Marine ; Beldjord, Cherif ; Chelly, Jamel ; Bahi-Buisson, Nadia

European journal of human genetics : EJHG, 2013-04, Vol.21 (4), p.381-385 [Periódico revisado por pares]

England: Nature Publishing Group

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8
Further characterisation of ARX-related disorders in females due to inherited or de novo variants
Further characterisation of ARX-related disorders in females due to inherited or de novo variants
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Further characterisation of ARX-related disorders in females due to inherited or de novo variants

Gras, Mathilde ; Heide, Solveig ; Keren, Boris ; Valence, Stéphanie ; Garel, Catherine ; Whalen, Sandra ; Jansen, Anna C ; Keymolen, Kathelijn ; Stouffs, Katrien ; Jennesson, Mélanie ; Poirsier, Céline ; Lesca, Gaetan ; Depienne, Christel ; Nava, Caroline ; Rastetter, Agnès ; Curie, Aurore ; Cuisset, Laurence ; Des Portes, Vincent ; Milh, Mathieu ; Charles, Perrine ; Mignot, Cyril ; Héron, Delphine

Journal of medical genetics, 2024-02, Vol.61 (2), p.103-108 [Periódico revisado por pares]

England: BMJ Publishing Group Ltd

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9
Loss-of-function variants in ZEB1 cause dominant anomalies of the corpus callosum with favourable cognitive prognosis
Loss-of-function variants in ZEB1 cause dominant anomalies of the corpus callosum with favourable cognitive prognosis
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Loss-of-function variants in ZEB1 cause dominant anomalies of the corpus callosum with favourable cognitive prognosis

Heide, Solveig ; Argilli, Emanuela ; Valence, Stéphanie ; Boutaud, Lucile ; Roux, Nathalie ; Mignot, Cyril ; Nava, Caroline ; Keren, Boris ; Giraudat, Kim ; Faudet, Anne ; Gerasimenko, Anna ; Garel, Catherine ; Blondiaux, Eleonore ; Rastetter, Agnès ; Grevent, David ; Le, Carolyn ; Mackenzie, Lisa ; Richards, Linda ; Attié-Bitach, Tania ; Depienne, Christel ; Sherr, Elliott ; Héron, Delphine

Journal of medical genetics, 2023-10, Vol.61 (3), p.244-249 [Periódico revisado por pares]

England: BMJ Publishing Group Ltd

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10
Exome sequencing in congenital ataxia identifies two new candidate genes and highlights a pathophysiological link between some congenital ataxias and early infantile epileptic encephalopathies
Exome sequencing in congenital ataxia identifies two new candidate genes and highlights a pathophysiological link between some congenital ataxias and early infantile epileptic encephalopathies
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Exome sequencing in congenital ataxia identifies two new candidate genes and highlights a pathophysiological link between some congenital ataxias and early infantile epileptic encephalopathies

Valence, Stéphanie ; Cochet, Emmanuelle ; Rougeot, Christelle ; Garel, Catherine ; Chantot-Bastaraud, Sandra ; Lainey, Elodie ; Afenjar, Alexandra ; Barthez, Marie-Anne ; Bednarek, Nathalie ; Doummar, Diane ; Faivre, Laurence ; Goizet, Cyril ; Haye, Damien ; Heron, Bénédicte ; Kemlin, Isabelle ; Lacombe, Didier ; Milh, Mathieu ; Moutard, Marie-Laure ; Riant, Florence ; Robin, Stéphanie ; Roubertie, Agathe ; Sarda, Pierre ; Toutain, Annick ; Villard, Laurent ; Ville, Dorothée ; Billette de Villemeur, Thierry ; Rodriguez, Diana ; Burglen, Lydie

Genetics in medicine, 2019-03, Vol.21 (3), p.553-563 [Periódico revisado por pares]

United States: Elsevier Limited

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