نتائج البحث - Marlin, Sandrine 

Screening of MITF and SOX10 Regulatory Regions in Waardenburg Syndrome Type 2 حسب Baral, Viviane, Chaoui, Asma, Watanabe, Yuli, Goossens, Michel, Attie-Bitach, Tania, Marlin, Sandrine, Pingault, Veronique, Bondurand, Nadege

احصل على النص الكامل احصل على النص الكامل احصل على النص الكامل

Functional and genetic analyses of ZYG11B provide evidences for its involvement in OAVS حسب Tingaud‐Sequeira, Angèle, Trimouille, Aurélien, Marlin, Sandrine, Lopez, Estelle, Berenguer, Marie, Gherbi, Souad, Arveiler, Benoit, Lacombe, Didier, Rooryck, Caroline

احصل على النص الكامل احصل على النص الكامل احصل على النص الكامل

Role of IL-1b in NLRP12-associated autoinflammatory disorders and resistance to anti-IL-1 therapy حسب Jeru, Isabelle, Hentgen, Véronique, Normand, Sylvain, Duquesnoy, Philippe, Cochet, Emmanuelle, Delwail, Adriana, Grateau, Gilles, Marlin, Sandrine, Amselem, Serge, Lecron, Jean-Claude

احصل على النص الكامل احصل على النص الكامل

Evaluation of Cytomegalovirus (CMV) DNA Quantification in Dried Blood Spots: Retrospective Study of CMV Congenital Infection حسب Vauloup-Fellous, Christelle, Ducroux, Aurélie, Couloigner, Vincent, Marlin, Sandrine, Picone, Olivier, Galimand, Julie, Loundon, Natalie, Denoyelle, Françoise, Grangeot-Keros, Liliane, Leruez-Ville, Marianne

احصل على النص الكامل احصل على النص الكامل احصل على النص الكامل

Severity of Retrognathia and Glossoptosis Does Not Predict Respiratory and Feeding Disorders in Pierre Robin Sequence حسب Morice, Anne, Soupre, Véronique, Mitanchez, Delphine, Renault, Francis, Fauroux, Brigitte, Marlin, Sandrine, Leboulanger, Nicolas, Kadlub, Natacha, Vazquez, Marie-Paule, Picard, Arnaud, Abadie, Véronique

احصل على النص الكامل احصل على النص الكامل احصل على النص الكامل

Retinal Phenotype of Patients with CLRN1-Associated Usher 3A Syndrome in French Light4Deaf Cohort حسب Smirnov, Vasily M., Nassisi, Marco, Mohand-Saïd, Saddek, Bonnet, Crystel, Aubois, Anne, Devisme, Céline, Dib, Thilissa, Zeitz, Christina, Loundon, Natalie, Marlin, Sandrine, Petit, Christine, Bodaghi, Bahram, Sahel, José-Alain, Audo, Isabelle

احصل على النص الكامل احصل على النص الكامل احصل على النص الكامل

Mild MDPL in a patient with a novel de novo missense variant in the Cys-B region of POLD1 حسب Chopra, Maya, Caswell, Richard, Barcia, Giulia, Rondeau, Sophie, Jonard, Laurence, Nitchké, Patrick, Amram, Daniel, Bellaiche, Marc-Lionel, Abadie, Veronique, Parodi, Marine, Denoyelle, Francoise, Hattersley, Andrew, Bole, Christine, Lyonnet, Stanislas, Marlin, Sandrine

احصل على النص الكامل احصل على النص الكامل احصل على النص الكامل

The CD2 isoform of protocadherin-15 is an essential component of the tip-link complex in mature auditory hair cells حسب Pepermans, Elise, Michel, Vincent, Goodyear, Richard, Bonnet, Crystel, Abdi, Samia, Dupont, Typhaine, Gherbi, Souad, Holder, Muriel, Makrelouf, Mohamed, Hardelin, Jean-Pierre, Marlin, Sandrine, Zenati, Akila, Richardson, Guy, Avan, Paul, Bahloul, Amel, Petit, Christine

احصل على النص الكامل احصل على النص الكامل احصل على النص الكامل

Deletions at the SOX10 Gene Locus Cause Waardenburg Syndrome Types 2 and 4 حسب Bondurand, Nadege , Dastot-Le Moal, Florence , Stanchina, Laure , Collot, Nathalie , Baral, Viviane , Marlin, Sandrine , Attie-Bitach, Tania , Giurgea, Irina , Skopinski, Laurent , Reardon, William , Toutain, Annick , Sarda, Pierre , Echaieb, Anis , Lackmy-Port-Lis, Marilyn , Touraine, Renaud , Amiel, Jeanne , Goossens, Michel , Pingault, Veronique 

احصل على النص الكامل احصل على النص الكامل

Arterial spin labeling brain MRI study to evaluate the impact of deafness on cerebral perfusion in 79 children before cochlear implantation حسب Coez, Arnaud, Fillon, Ludovic, Saitovitch, Ana, Rutten, Caroline, Marlin, Sandrine, Boisgontier, Jennifer, Vinçon-Leite, Alice, Lemaitre, Hervé, Grévent, David, Roux, Charles-Joris, Dangouloff-Ros, Volodia, levy, Raphaël, Bizaguet, Eric, Rouillon, Isabelle, Garabédian, Eréa Noël, Denoyelle, Françoise, Zilbovicius, Monica, Loundon, Natalie, Boddaert, Nathalie

احصل على النص الكامل احصل على النص الكامل احصل على النص الكامل

Loss-of-Function Mutations in SOX10 Cause Kallmann Syndrome with Deafness حسب Pingault, Veronique, Bodereau, Virginie, Baral, Viviane, Marcos, Severine, Watanabe, Yuli, Chaoui, Asma, Fouveaut, Corinne, Leroy, Chrystel, Vérier-Mine, Odile, Francannet, Christine, Dupin-Deguine, Delphine, Archambeaud, Françoise, Kurtz, François-Joseph, Young, Jacques, Bertherat, Jérôme, Marlin, Sandrine, Goossens, Michel, Hardelin, Jean-Pierre, Dodé, Catherine, Bondurand, Nadege

احصل على النص الكامل احصل على النص الكامل احصل على النص الكامل

Genomic and clinical characteristics of six patients with partially overlapping interstitial deletions at 10p12p11 حسب Wentzel, Christian, Rajcan-Separovic, Evica, Ruivenkamp, Claudia A L, Chantot-Bastaraud, Sandra, Metay, Corinne, Andrieux, Joris, Annerén, Göran, Gijsbers, Antoinet C J, Druart, Luc, Hyon, Capucine, Portnoi, Marie-France, Stattin, Eva-Lena, Vincent-Delorme, Catherine, Kant, Sarina G, Steinraths, Michelle, Marlin, Sandrine, Giurgea, Irina, Thuresson, Ann-Charlotte

احصل على النص الكامل احصل على النص الكامل احصل على النص الكامل

Mutations in TUBB4B Cause a Distinctive Sensorineural Disease حسب Luscan, Romain, Mechaussier, Sabrina, Paul, Antoine, Tian, Guoling, Gérard, Xavier, Defoort-Dellhemmes, Sabine, Loundon, Natalie, Audo, Isabelle, Bonnin, Sophie, LeGargasson, Jean-François, Dumont, Julien, Goudin, Nicolas, Garfa-Traoré, Meriem, Bras, Marc, Pouliet, Aurore, Bessières, Bettina, Boddaert, Nathalie, Sahel, José-Alain, Lyonnet, Stanislas, Kaplan, Josseline, Cowan, Nicholas J., Rozet, Jean-Michel, Marlin, Sandrine, Perrault, Isabelle

احصل على النص الكامل احصل على النص الكامل احصل على النص الكامل

FDXR Mutations Cause Sensorial Neuropathies and Expand the Spectrum of Mitochondrial Fe-S-Synthesis Diseases حسب Paul, Antoine, Drecourt, Anthony, Petit, Floriane, Deguine, Delphine Dupin, Vasnier, Christelle, Oufadem, Myriam, Masson, Cécile, Bonnet, Crystel, Masmoudi, Saber, Mosnier, Isabelle, Mahieu, Laurence, Bouccara, Didier, Kaplan, Josseline, Challe, Georges, Domange, Christelle, Mochel, Fanny, Sterkers, Olivier, Gerber, Sylvie, Nitschke, Patrick, Bole-Feysot, Christine, Jonard, Laurence, Gherbi, Souad, Mercati, Oriane, Ben Aissa, Ines, Lyonnet, Stanislas, Rötig, Agnès, Delahodde, Agnès, Marlin, Sandrine

احصل على النص الكامل احصل على النص الكامل احصل على النص الكامل

Prevalence and Evolutionary Origins of the del(GJB6-D13S1830) Mutation in the DFNB1 Locus in Hearing-Impaired Subjects: a Multicenter Study حسب del Castillo, Ignacio, Moreno-Pelayo, Miguel A., del Castillo, Francisco J., Brownstein, Zippora, Marlin, Sandrine, Adina, Quint, Cockburn, David J., Pandya, Arti, Siemering, Kirby R., Chamberlin, G. Parker, Ballana, Ester, Wuyts, Wim, Maciel-Guerra, Andréa Trevas, Álvarez, Araceli, Villamar, Manuela, Shohat, Mordechai, Abeliovich, Dvorah, Dahl, Hans-Henrik M., Estivill, Xavier, Gasparini, Paolo, Hutchin, Tim, Nance, Walter E., Sartorato, Edi L., Smith, Richard J. H., Van Camp, Guy, Avraham, Karen B., Petit, Christine, Moreno, Felipe

احصل على النص الكامل احصل على النص الكامل

Myhre and LAPS syndromes: clinical and molecular review of 32 patients حسب Michot, Caroline, Le Goff, Carine, Mahaut, Clémentine, Afenjar, Alexandra, Brooks, Alice S, Campeau, Philippe M, Destree, Anne, Di Rocco, Maja, Donnai, Dian, Hennekam, Raoul, Heron, Delphine, Jacquemont, Sébastien, Kannu, Peter, Lin, Angela E, Manouvrier-Hanu, Sylvie, Mansour, Sahar, Marlin, Sandrine, McGowan, Ruth, Murphy, Helen, Raas-Rothschild, Annick, Rio, Marlène, Simon, Marleen, Stolte-Dijkstra, Irene, Stone, James R, Sznajer, Yves, Tolmie, John, Touraine, Renaud, van den Ende, Jenneke, Van der Aa, Nathalie, van Essen, Ton, Verloes, Alain, Munnich, Arnold, Cormier-Daire, Valérie

احصل على النص الكامل احصل على النص الكامل احصل على النص الكامل

Myhre and LAPS syndromes: clinical and molecular review of 32 patients حسب Michot, Caroline, Le Goff, Carine, Mahaut, Clémentine, Afenjar, Alexandra, Brooks, Alice S, Campeau, Philippe M, Destree, Anne, Di Rocco, Maja, Donnai, Dian, Hennekam, Raoul, Heron, Delphine, Jacquemont, Sébastien, Kannu, Peter, Lin, Angela E, Manouvrier-Hanu, Sylvie, Mansour, Sahar, Marlin, Sandrine, McGowan, Ruth, Murphy, Helen, Raas-Rothschild, Annick, Rio, Marléne, Simon, Marleen, Stolte-Dijkstra, Irene, Stone, James R, Sznajer, Yves, Tolmie, John, Touraine, Renaud, van den Ende, Jenneke, Van der Aa, Nathalie, van Essen, Ton, Verloes, Alain, Munnich, Arnold, Cormier-Daire, Valérie

احصل على النص الكامل احصل على النص الكامل

An innovative strategy for the molecular diagnosis of Usher syndrome identifies causal biallelic mutations in 93% of European patients حسب Bonnet, Crystel, Riahi, Zied, Chantot-Bastaraud, Sandra, Smagghe, Luce, Letexier, Mélanie, Marcaillou, Charles, Lefèvre, Gaëlle M, Hardelin, Jean-Pierre, El-Amraoui, Aziz, Singh-Estivalet, Amrit, Mohand-Saïd, Saddek, Kohl, Susanne, Kurtenbach, Anne, Sliesoraityte, Ieva, Zobor, Ditta, Gherbi, Souad, Testa, Francesco, Simonelli, Francesca, Banfi, Sandro, Fakin, Ana, Glavač, Damjan, Jarc-Vidmar, Martina, Zupan, Andrej, Battelino, Saba, Martorell Sampol, Loreto, Claveria, Maria Antonia, Catala Mora, Jaume, Dad, Shzeena, Møller, Lisbeth B, Rodriguez Jorge, Jesus, Hawlina, Marko, Auricchio, Alberto, Sahel, José-Alain, Marlin, Sandrine, Zrenner, Eberhart, Audo, Isabelle, Petit, Christine

احصل على النص الكامل احصل على النص الكامل احصل على النص الكامل

Complete exon sequencing of all known Usher syndrome genes greatly improves molecular diagnosis حسب Bonnet, Crystel, Grati, M'hamed, Marlin, Sandrine, Levilliers, Jacqueline, Hardelin, Jean-Pierre, Parodi, Marine, Niasme-Grare, Magali, Zelenika, Diana, Délépine, Marc, Feldmann, Delphine, Jonard, Laurence, El-Amraoui, Aziz, Weil, Dominique, Delobel, Bruno, Vincent, Christophe, Dollfus, Hélène, Eliot, Marie-Madeleine, David, Albert, Calais, Catherine, Vigneron, Jacqueline, Montaut-Verient, Bettina, Bonneau, Dominique, Dubin, Jacques, Thauvin, Christel, Duvillard, Alain, Francannet, Christine, Mom, Thierry, Lacombe, Didier, Duriez, Françoise, Drouin-Garraud, Valérie, Thuillier-Obstoy, Marie-Françoise, Sigaudy, Sabine, Frances, Anne-Marie, Collignon, Patrick, Challe, Georges, Couderc, Rémy, Lathrop, Mark, Sahel, José-Alain, Weissenbach, Jean, Petit, Christine, Denoyelle, Françoise

احصل على النص الكامل احصل على النص الكامل احصل على النص الكامل

Prevalence of rare mitochondrial DNA mutations in mitochondrial disorders حسب Bannwarth, Sylvie, Procaccio, Vincent, Lebre, Anne Sophie, Jardel, Claude, Chaussenot, Annabelle, Hoarau, Claire, Maoulida, Hassani, Charrier, Nathanaël, Gai, Xiaowu, Xie, Hongbo M, Ferre, Marc, Fragaki, Konstantina, Hardy, Gaëlle, Mousson de Camaret, Bénédicte, Marlin, Sandrine, Dhaenens, Claire Marie, Slama, Abdelhamid, Rocher, Christophe, Paul Bonnefont, Jean, Rötig, Agnès, Aoutil, Nadia, Gilleron, Mylène, Desquiret-Dumas, Valérie, Reynier, Pascal, Ceresuela, Jennifer, Jonard, Laurence, Devos, Aurore, Espil-Taris, Caroline, Martinez, Delphine, Gaignard, Pauline, Le Quan Sang, Kim-Hanh, Amati-Bonneau, Patrizia, Falk, Marni J, Florentz, Catherine, Chabrol, Brigitte, Durand-Zaleski, Isabelle, Paquis-Flucklinger, Véronique

احصل على النص الكامل احصل على النص الكامل احصل على النص الكامل