Ngā hua rapu - Pasquier, Laurent

The Mayer-Rokitansky-Küster-Hauser syndrome (congenital absence of uterus and vagina) – phenotypic manifestations and genetic approaches mā Guerrier, Daniel, Mouchel, Thomas, Pasquier, Laurent, Pellerin, Isabelle

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Holoprosencephaly mā Dubourg, Christèle, Bendavid, Claude, Pasquier, Laurent, Henry, Catherine, Odent, Sylvie, David, Véronique

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Clinical utility gene card for: Mayer–Rokitansky–Küster–Hauser syndrome mā Morcel, Karine, Dallapiccola, Bruno, Pasquier, Laurent, Watrin, Tanguy, Bernardini, Laura, Guerrier, Daniel

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Population genetic screening: current issues in a European country mā Pasquier, Laurent, Isidor, Bertrand, Rial-Sebbag, Emmanuelle, Odent, Sylvie, Minguet, Guy, Moutel, Grégoire

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IQSEC2‐related encephalopathy in males due to missense variants in the pleckstrin homology domain mā Shoubridge, Cheryl, Dudding‐Byth, Tracy, Pasquier, Laurent, Goel, Himanshu, Yap, Patrick, McConnell, Vivienne

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A systematic review of the views of healthcare professionals on the scope of preimplantation genetic testing mā Siermann, Maria, Claesen, Zoë, Pasquier, Laurent, Raivio, Taneli, Tšuiko, Olga, Vermeesch, Joris Robert, Borry, Pascal

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Role of Genetics in the Etiology of Autistic Spectrum Disorder: Towards a Hierarchical Diagnostic Strategy mā Robert, Cyrille, Pasquier, Laurent, Cohen, David, Fradin, Mélanie, Canitano, Roberto, Damaj, Léna, Odent, Sylvie, Tordjman, Sylvie

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Informing relatives of their genetic risk: an examination of the Belgian legal context mā Phillips, Amicia, Bronselaer, Thomas, Borry, Pascal, Van Hoyweghen, Ine, Vears, Danya F., Pasquier, Laurent, Callens, Stefaan

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How do non-geneticist physicians deal with genetic tests? A qualitative analysis mā Pasquier, Laurent, Minguet, Guy, Moisdon-Chataigner, Sylvie, Jarno, Pascal, Denizeau, Philippe, Volf, Ginette, Odent, Sylvie, Moutel, Grégoire

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Incidental diagnosis of mucopolysaccharidosis type I in an infant with chronic intestinal pseudoobstruction by exome sequencing mā Cospain, Auriane, Dubourg, Christèle, Gastineau, Swellen, Pichard, Samia, Gandemer, Virginie, Bonneau, Jacinthe, de Tayrac, Marie, Moreau, Caroline, Odent, Sylvie, Pasquier, Laurent, Damaj, Lena, Lavillaureix, Alinoë

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CNS involvement in OFD1 syndrome: a clinical, molecular, and neuroimaging study mā Del Giudice, Ennio, Macca, Marina, Imperati, Floriana, D’Amico, Alessandra, Parent, Philippe, Pasquier, Laurent, Layet, Valerie, Lyonnet, Stanislas, Stamboul-Darmency, Veronique, Thauvin-Robinet, Christel, Franco, Brunella

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Utero-vaginal aplasia (Mayer-Rokitansky-Küster-Hauser syndrome) associated with deletions in known DiGeorge or DiGeorge-like loci mā Morcel, Karine, Watrin, Tanguy, Pasquier, Laurent, Rochard, Lucie, Le Caignec, Cédric, Dubourg, Christèle, Loget, Philippe, Paniel, Bernard-Jean, Odent, Sylvie, David, Véronique, Pellerin, Isabelle, Bendavid, Claude, Guerrier, Daniel

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Evaluation of the template letter regarding the disclosure of genetic information within the family in France mā Zordan, Cécile, Monteil, Laetitia, Haquet, Emmanuelle, Cordier, Christophe, Toussaint, Eva, Roche, Pauline, Dorian, Virginie, Maillard, Aline, Lhomme, Edouard, Richert, Laura, Pasquier, Laurent, Akloul, Linda, Taris, Nicolas, Lacombe, Didier

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Array-based comparative genomic hybridization identifies a high frequency of copy number variations in patients with syndromic overgrowth mā Malan, Valérie, Chevallier, Suzanne, Soler, Gwendoline, Coubes, Christine, Lacombe, Didier, Pasquier, Laurent, Soulier, Jean, Morichon-Delvallez, Nicole, Turleau, Catherine, Munnich, Arnold, Romana, Serge, Vekemans, Michel, Cormier-Daire, Valérie, Colleaux, Laurence

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2q23.1 microdeletion identified by array comparative genomic hybridisation: an emerging phenotype with Angelman-like features? mā Jaillard, Sylvie, Dubourg, Christèle, Gérard-Blanluet, Marion, Delahaye, Andrée, Pasquier, Laurent, Dupont, Céline, Henry, Catherine, Tabet, Anne-Claude, Lucas, Josette, Aboura, Azzedine, David, Véronique, Benzacken, Brigitte, Odent, Sylvie, Pipiras, Eva

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New findings for phenotype-genotype correlations in a large European series of holoprosencephaly cases mā Mercier, Sandra, Dubourg, Christèle, Garcelon, Nicolas, Campillo-Gimenez, Boris, Gicquel, Isabelle, Belleguic, Marion, Ratié, Leslie, Pasquier, Laurent, Loget, Philippe, Bendavid, Claude, Jaillard, Sylvie, Rochard, Lucie, Quélin, Chloé, Dupé, Valérie, David, Véronique, Odent, Sylvie

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A de novo variant in ADGRL2 suggests a novel mechanism underlying the previously undescribed association of extreme microcephaly with severely reduced sulcation and rhombencephalos... mā Vezain, Myriam, Lecuyer, Matthieu, Rubio, Marina, Dupé, Valérie, Ratié, Leslie, David, Véronique, Pasquier, Laurent, Odent, Sylvie, Coutant, Sophie, Tournier, Isabelle, Trestard, Laetitia, Adle-Biassette, Homa, Vivien, Denis, Frébourg, Thierry, Gonzalez, Bruno J, Laquerrière, Annie, Saugier-Veber, Pascale

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Targeted resequencing identifies PTCH1 as a major contributor to ocular developmental anomalies and extends the SOX2 regulatory network mā Chassaing, Nicolas, Davis, Erica E., McKnight, Kelly L., Niederriter, Adrienne R., Causse, Alexandre, David, Véronique, Desmaison, Annaïck, Lamarre, Sophie, Vincent-Delorme, Catherine, Pasquier, Laurent, Coubes, Christine, Lacombe, Didier, Rossi, Massimiliano, Dufier, Jean-Louis, Dollfus, Helene, Kaplan, Josseline, Katsanis, Nicholas, Etchevers, Heather C., Faguer, Stanislas, Calvas, Patrick

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Genetic and clinical specificity of 26 symptomatic carriers for dystrophinopathies at pediatric age mā Mercier, Sandra, Toutain, Annick, Toussaint, Aurélie, Raynaud, Martine, de Barace, Claire, Marcorelles, Pascale, Pasquier, Laurent, Blayau, Martine, Espil, Caroline, Parent, Philippe, Journel, Hubert, Lazaro, Leila, Andoni Urtizberea, Jon, Moerman, Alexandre, Faivre, Laurence, Eymard, Bruno, Maincent, Kim, Gherardi, Romain, Chaigne, Denys, Ben Yaou, Rabah, Leturcq, France, Chelly, Jamel, Desguerre, Isabelle

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Genetic and clinical specificity of 26 symptomatic carriers for dystrophinopathies at pediatric age mā Mercier, Sandra, Toutain, Annick, Toussaint, Aurélie, Raynaud, Martine, de Barace, Claire, Marcorelles, Pascale, Pasquier, Laurent, Blayau, Martine, Pénisson-Besnier, Isabelle, Romero, Norma, Espil, Caroline, Parent, Philippe, Journel, Hubert, Lazaro, Leila, Andoni Urtizberea, Jon, Moerman, Alexandre, Faivre, Laurence, Eymard, Bruno, Maincent, Kim, Gherardi, Romain, Chaigne, Denys, Ben Yaou, Rabah, Leturcq, France, Chelly, Jamel, Desguerre, Isabelle

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