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Refinado por: Nome da Publicação: European Journal Of Human Genetics : Ejhg remover assunto: Life Sciences remover
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Rapid exome sequencing in critically ill infants: implementation in routine care from French regional hospital’s perspective
Rapid exome sequencing in critically ill infants: implementation in routine care from French regional hospital’s perspective
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Rapid exome sequencing in critically ill infants: implementation in routine care from French regional hospital’s perspective

Wells, Constance F ; Boursier, Guilaine ; Yauy, Kevin ; Ruiz-Pallares, Nathalie ; Mechin, Déborah ; Ruault, Valentin ; Tharreau, Mylène ; Blanchet, Patricia ; Pinson, Lucile ; Coubes, Christine ; Fila, Marc ; Baleine, Julien ; Pidoux, Odile ; Badr, Maliha ; Milesi, Christophe ; Cambonie, Gilles ; Mesnage, Renaud ; Dereure, Maëlle ; Ardouin, Olivier ; Guignard, Thomas ; Geneviève, David ; Barat-Houari, Mouna ; Willems, Marjolaine

European journal of human genetics : EJHG, 2022-09, Vol.30 (9), p.1076-1082 [Periódico revisado por pares]

Leiden: Nature Publishing Group

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2
Using deep-neural-network-driven facial recognition to identify distinct Kabuki syndrome 1 and 2 gestalt
Using deep-neural-network-driven facial recognition to identify distinct Kabuki syndrome 1 and 2 gestalt
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Using deep-neural-network-driven facial recognition to identify distinct Kabuki syndrome 1 and 2 gestalt

Rouxel, Flavien ; Yauy, Kevin ; Boursier, Guilaine ; Gatinois, Vincent ; Barat-Houari, Mouna ; Sanchez, Elodie ; Lacombe, Didier ; Arpin, Stéphanie ; Giuliano, Fabienne ; Haye, Damien ; Rio, Marlène ; Toutain, Annick ; Dieterich, Klaus ; Brischoux-Boucher, Elise ; Julia, Sophie ; Nizon, Mathilde ; Afenjar, Alexandra ; Keren, Boris ; Jacquette, Aurelia ; Moutton, Sebastien ; Jacquemont, Marie-Line ; Duflos, Claire ; Capri, Yline ; Amiel, Jeanne ; Blanchet, Patricia ; Lyonnet, Stanislas ; Sanlaville, Damien ; Genevieve, David

European journal of human genetics : EJHG, 2022-06, Vol.30 (6), p.682-686 [Periódico revisado por pares]

England: Nature Publishing Group

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3
Report on three additional patients and genotype-phenotype correlation in SLC25A22-related disorders group
Report on three additional patients and genotype-phenotype correlation in SLC25A22-related disorders group
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Report on three additional patients and genotype-phenotype correlation in SLC25A22-related disorders group

Lemattre, Camille ; Imbert-Bouteille, Marion ; Gatinois, Vincent ; Benit, Paule ; Sanchez, Elodie ; Guignard, Thomas ; Tran Mau-Them, Frédéric ; Haquet, Emmanuelle ; Rivier, François ; Carme, Emilie ; Roubertie, Agathe ; Boland, Anne ; Lechner, Doris ; Meyer, Vincent ; Thevenon, Julien ; Duffourd, Yannis ; Rivière, Jean-Baptiste ; Deleuze, Jean-François ; Wells, Constance ; Molinari, Florence ; Rustin, Pierre ; Blanchet, Patricia ; Geneviève, David

European journal of human genetics : EJHG, 2019-11, Vol.27 (11), p.1692-1700 [Periódico revisado por pares]

England: Nature Publishing Group

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4
Expanding the phenotypic spectrum of variants in PDE4D/PRKAR1A: from acrodysostosis to acroscyphodysplasia
Expanding the phenotypic spectrum of variants in PDE4D/PRKAR1A: from acrodysostosis to acroscyphodysplasia
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Expanding the phenotypic spectrum of variants in PDE4D/PRKAR1A: from acrodysostosis to acroscyphodysplasia

Michot, Caroline ; Le Goff, Carine ; Blair, Edward ; Blanchet, Patricia ; Capri, Yline ; Gilbert-Dussardier, Brigitte ; Goldenberg, Alice ; Henderson, Alex ; Isidor, Bertrand ; Kayserili, Hulya ; Kinning, Esther ; Le Merrer, Martine ; Lyonnet, Stanislas ; Odent, Sylvie ; Simsek-Kiper, Pelin Ozlem ; Quelin, Chloé ; Savarirayan, Ravi ; Simon, Marleen ; Splitt, Miranda ; Verhagen, Judith M A ; Verloes, Alain ; Munnich, Arnold ; Baujat, Geneviève ; Cormier-Daire, Valérie

European journal of human genetics : EJHG, 2018-11, Vol.26 (11), p.1611-1622 [Periódico revisado por pares]

England: Nature Publishing Group

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5
The expanding spectrum of COL2A1 gene variants IN 136 patients with a skeletal dysplasia phenotype
The expanding spectrum of COL2A1 gene variants IN 136 patients with a skeletal dysplasia phenotype
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The expanding spectrum of COL2A1 gene variants IN 136 patients with a skeletal dysplasia phenotype

Barat-Houari, Mouna ; Dumont, Bruno ; Fabre, Aurélie ; Them, Frédéric Tm ; Alembik, Yves ; Alessandri, Jean-Luc ; Amiel, Jeanne ; Audebert, Séverine ; Baumann-Morel, Clarisse ; Blanchet, Patricia ; Bieth, Eric ; Brechard, Marie ; Busa, Tiffany ; Calvas, Patrick ; Capri, Yline ; Cartault, François ; Chassaing, Nicolas ; Ciorca, Vidrica ; Coubes, Christine ; David, Albert ; Delezoide, Anne-Lise ; Dupin-Deguine, Delphine ; El Chehadeh, Salima ; Faivre, Laurence ; Giuliano, Fabienne ; Goldenberg, Alice ; Isidor, Bertrand ; Jacquemont, Marie-Line ; Julia, Sophie ; Kaplan, Josseline ; Lacombe, Didier ; Lebrun, Marine ; Marlin, Sandrine ; Martin-Coignard, Dominique ; Martinovic, Jelena ; Masurel, Alice ; Melki, Judith ; Mozelle-Nivoix, Monique ; Nguyen, Karine ; Odent, Sylvie ; Philip, Nicole ; Pinson, Lucile ; Plessis, Ghislaine ; Quélin, Chloé ; Shaeffer, Elise ; Sigaudy, Sabine ; Thauvin, Christel ; Till, Marianne ; Touraine, Renaud ; Vigneron, Jacqueline ; Baujat, Geneviève ; Cormier-Daire, Valérie ; Le Merrer, Martine ; Geneviève, David ; Touitou, Isabelle

European journal of human genetics : EJHG, 2016-07, Vol.24 (7), p.992-1000 [Periódico revisado por pares]

England: Nature Publishing Group

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6
A systematic variant screening in familial cases of congenital heart defects demonstrates the usefulness of molecular genetics in this field
A systematic variant screening in familial cases of congenital heart defects demonstrates the usefulness of molecular genetics in this field
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A systematic variant screening in familial cases of congenital heart defects demonstrates the usefulness of molecular genetics in this field

El Malti, Rajae ; Liu, Hui ; Doray, Bérénice ; Thauvin, Christel ; Maltret, Alice ; Dauphin, Claire ; Gonçalves-Rocha, Miguel ; Teboul, Michel ; Blanchet, Patricia ; Roume, Joëlle ; Gronier, Céline ; Ducreux, Corinne ; Veyrier, Magali ; Marçon, François ; Acar, Philippe ; Lusson, Jean-René ; Levy, Marilyne ; Beyler, Constance ; Vigneron, Jacqueline ; Cordier-Alex, Marie-Pierre ; Heitz, François ; Sanlaville, Damien ; Bonnet, Damien ; Bouvagnet, Patrice

European journal of human genetics : EJHG, 2016-02, Vol.24 (2), p.228-236 [Periódico revisado por pares]

England: Nature Publishing Group

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7
Exonic microdeletions in the X-linked PQBP1 gene in mentally retarded patients : a pathogenic mutation and in-frame deletions of uncertain effect
Exonic microdeletions in the X-linked PQBP1 gene in mentally retarded patients : a pathogenic mutation and in-frame deletions of uncertain effect
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Exonic microdeletions in the X-linked PQBP1 gene in mentally retarded patients : a pathogenic mutation and in-frame deletions of uncertain effect

COSSE, Mireille ; DEMEER, Bénédicte ; HEGDE, Sridevi ; SPRINGELL, Kelly ; THELMA, B. K ; WOODS, Geoffrey ; KALSCHEUER, Vera ; MANDEL, Jean-Louis ; BLANCHET, Patricia ; ECHENNE, Bernard ; SINGH, Deepika ; HAGENS, Olivier ; ANTIN, Manuela ; FINCK, Sonja ; VALLEE, Louis ; DOLLFUS, Hélène

European journal of human genetics : EJHG, 2006-04, Vol.14 (4), p.418-425 [Periódico revisado por pares]

Avenel, NJ: Nature Publishing

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8
Lamellar ichthyosis: further narrowing, physical and expression mapping of the chromosome 2 candidate locus
Lamellar ichthyosis: further narrowing, physical and expression mapping of the chromosome 2 candidate locus
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Lamellar ichthyosis: further narrowing, physical and expression mapping of the chromosome 2 candidate locus

Parmentier, L ; Clepet, C ; Boughdene-Stambouli, O ; Lakhdar, H ; Blanchet-Bardon, C ; Dubertret, L ; Wunderle, E ; Pulcini, F ; Fizames, C ; Weissenbach, J

European journal of human genetics : EJHG, 1999-01, Vol.7 (1), p.77-87 [Periódico revisado por pares]

England: Nature Publishing Group

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