Výsledky vyhledávání - Pasquier, Laurent

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

Získat plný text Získat plný text Získat plný text

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

Získat plný text Získat plný text Získat plný text

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

Získat plný text Získat plný text Získat plný text

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

Získat plný text Získat plný text Získat plný text

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

Získat plný text Získat plný text Získat plný text

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

Získat plný text Získat plný text Získat plný text

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

Získat plný text Získat plný text Získat plný text

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

Získat plný text Získat plný text Získat plný text

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

Získat plný text Získat plný text Získat plný text

Incidental diagnosis of mucopolysaccharidosis type I in an infant with chronic intestinal pseudoobstruction by exome sequencing Autor 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

Získat plný text Získat plný text Získat plný text

CNS involvement in OFD1 syndrome: a clinical, molecular, and neuroimaging study Autor 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

Získat plný text Získat plný text Získat plný text

Utero-vaginal aplasia (Mayer-Rokitansky-Küster-Hauser syndrome) associated with deletions in known DiGeorge or DiGeorge-like loci Autor 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

Získat plný text Získat plný text Získat plný text

Evaluation of the template letter regarding the disclosure of genetic information within the family in France Autor 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

Získat plný text Získat plný text Získat plný text

Array-based comparative genomic hybridization identifies a high frequency of copy number variations in patients with syndromic overgrowth Autor 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

Získat plný text Získat plný text Získat plný text

2q23.1 microdeletion identified by array comparative genomic hybridisation: an emerging phenotype with Angelman-like features? Autor 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

Získat plný text Získat plný text Získat plný text

New findings for phenotype-genotype correlations in a large European series of holoprosencephaly cases Autor 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

Získat plný text Získat plný text Získat plný text

A de novo variant in ADGRL2 suggests a novel mechanism underlying the previously undescribed association of extreme microcephaly with severely reduced sulcation and rhombencephalos... Autor 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

Získat plný text Získat plný text Získat plný text

Targeted resequencing identifies PTCH1 as a major contributor to ocular developmental anomalies and extends the SOX2 regulatory network Autor 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

Získat plný text Získat plný text Získat plný text

Genetic and clinical specificity of 26 symptomatic carriers for dystrophinopathies at pediatric age Autor 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

Získat plný text Získat plný text Získat plný text

Genetic and clinical specificity of 26 symptomatic carriers for dystrophinopathies at pediatric age Autor 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

Získat plný text Získat plný text