Search Results - "Heron, Delphine"

Delineating the GRIN1 phenotypic spectrum: A distinct genetic NMDA receptor encephalopathy by Lemke, Johannes R, Geider, Kirsten, Helbig, Katherine L, Heyne, Henrike O, Schütz, Hannah, Hentschel, Julia, Courage, Carolina, Depienne, Christel, Nava, Caroline, Heron, Delphine, Møller, Rikke S, Hjalgrim, Helle, Lal, Dennis, Neubauer, Bernd A, Nürnberg, Peter, Thiele, Holger, Kurlemann, Gerhard, Arnold, Georgianne L, Bhambhani, Vikas, Bartholdi, Deborah, Pedurupillay, Christeen Ramane J, Misceo, Doriana, Frengen, Eirik, Strømme, Petter, Dlugos, Dennis J, Doherty, Emily S, Bijlsma, Emilia K, Ruivenkamp, Claudia A, Hoffer, Mariette J.V, Goldstein, Amy, Rajan, Deepa S, Narayanan, Vinodh, Ramsey, Keri, Belnap, Newell, Schrauwen, Isabelle, Richholt, Ryan, Koeleman, Bobby P.C, Sá, Joaquim, Mendonça, Carla, de Kovel, Carolien G.F, Weckhuysen, Sarah, Hardies, Katia, De Jonghe, Peter, De Meirleir, Linda, Milh, Mathieu, Badens, Catherine, Lebrun, Marine, Busa, Tiffany, Francannet, Christine, Piton, Amélie, Riesch, Erik, Biskup, Saskia, Vogt, Heinrich, Dorn, Thomas, Helbig, Ingo, Michaud, Jacques L, Laube, Bodo, Syrbe, Steffen

“…OBJECTIVE:To determine the phenotypic spectrum caused by mutations in GRIN1 encoding the NMDA receptor subunit GluN1 and to investigate their underlying…”
Get full text

Molecular and clinical descriptions of patients with GABAA receptor gene variants (GABRA1, GABRB2, GABRB3, GABRG2): A cohort study, review of literature, and genotype–phenotype correlation by Maillard, Pierre‐Yves, Baer, Sarah, Schaefer, Élise, Desnous, Béatrice, Villeneuve, Nathalie, Lépine, Anne, Fabre, Alexandre, Lacoste, Caroline, El Chehadeh, Salima, Piton, Amélie, Porter, Louise Frances, Perriard, Caroline, Wardé, Marie‐Thérèse Abi, Spitz, Marie‐Aude, Laugel, Vincent, Lesca, Gaëtan, Putoux, Audrey, Ville, Dorothée, Mignot, Cyril, Héron, Delphine, Nabbout, Rima, Barcia, Giulia, Rio, Marlène, Roubertie, Agathe, Meyer, Pierre, Paquis‐Flucklinger, Véronique, Patat, Olivier, Lefranc, Jérémie, Gerard, Marion, Bellescize, Julietta, Villard, Laurent, Saint Martin, Anne, Milh, Mathieu

“…Objective γ‐Aminobutyric acid (GABA)A‐receptor subunit variants have recently been associated with neurodevelopmental disorders and/or epilepsy. The phenotype…”
Get full text

Clinical, laboratory and molecular findings and long-term follow-up data in 96 French patients with PMM2-CDG (phosphomannomutase 2-congenital disorder of glycosylation) and review of the literature by Schiff, Manuel, Roda, Céline, Monin, Marie-Lorraine, Arion, Alina, Barth, Magali, Bednarek, Nathalie, Bidet, Maud, Bloch, Catherine, Boddaert, Nathalie, Borgel, Delphine, Brassier, Anaïs, Brice, Alexis, Bruneel, Arnaud, Buissonnière, Roger, Chabrol, Brigitte, Chevalier, Marie-Chantal, Cormier-Daire, Valérie, De Barace, Claire, De Maistre, Emmanuel, De Saint-Martin, Anne, Dorison, Nathalie, Drouin-Garraud, Valérie, Dupré, Thierry, Echenne, Bernard, Edery, Patrick, Feillet, François, Fontan, Isabelle, Francannet, Christine, Labarthe, François, Gitiaux, Cyril, Héron, Delphine, Hully, Marie, Lamoureux, Sylvie, Martin-Coignard, Dominique, Mignot, Cyril, Morin, Gilles, Pascreau, Tiffany, Pincemaille, Olivier, Polak, Michel, Roubertie, Agathe, Thauvin-Robinet, Christel, Toutain, Annick, Viot, Géraldine, Vuillaumier-Barrot, Sandrine, Seta, Nathalie, De Lonlay, Pascale

“…Phosphomannomutase 2-congenital disorder of glycosylation (PMM2-CDG) is a multisystem inborn error of metabolism. To better characterise the natural history of…”
Get more information

Beta-propeller protein-associated neurodegeneration: a new X-linked dominant disorder with brain iron accumulation by HAYF LICK, Susan J, KRUER, Michael C, DANDU, Vasuki H, NARDOCCI, Nardo, ZORZI, Giovanna, DUNAWAY, Todd, TARNOPOLSKY, Mark, SKINNER, Steven, HOLDEN, Kenton R, FRUCHT, Steven, HANSPAL, Era, SCHRANDER-STUMPEL, Connie, GREGORY, Allison, MIGNOT, Cyril, HERON, Delphine, SAUNDERS, Dawn E, KAMINSKA, Margaret, LIN, Jean-Pierre, LASCELLES, Karine, CUNO, Stephan M, MEYER, Esther, GARAVAGLIA, Barbara, BHATIA, Kailash, HAACK, Tobias B, DE SILVA, Rajith, CRISP, Sarah, LUNT, Peter, CAREY, Martyn, HARDY, John, MEITINGER, Thomas, PROKISCH, Holger, HOGARTH, Penelope, KURIAN, Manju A, HOULDEN, Henry H, ANDERSON, James, BODDAERT, Nathalie, SANFORD, Lynn, HARIK, Sami I

“…Neurodegenerative disorders with high iron in the basal ganglia encompass an expanding collection of single gene disorders collectively known as…”
Get full text

Ovarian reserve in patients with FMR1 gene premutation and the role of fertility preservation by Le Poulennec, Tiphaine, Dubreuil, Sophie, Grynberg, Michael, Chabbert-Buffet, Nathalie, Sermondade, Nathalie, Fourati, Salma, Siffroi, Jean-Pierre, Héron, Delphine, Bachelot, Anne

“…Women with premutation (PM) of the FMR1 gene may suffer from reduced ovarian reserve or even premature ovarian insufficiency (POI). We studied hormonal and…”
Get full text

Mutations in DCC cause isolated agenesis of the corpus callosum with incomplete penetrance by Marsh, Ashley P L, Heron, Delphine, Edwards, Timothy J, Quartier, Angélique, Galea, Charles, Nava, Caroline, Rastetter, Agnès, Moutard, Marie-Laure, Anderson, Vicki, Bitoun, Pierre, Bunt, Jens, Faudet, Anne, Garel, Catherine, Gillies, Greta, Gobius, Ilan, Guegan, Justine, Heide, Solveig, Keren, Boris, Lesne, Fabien, Lukic, Vesna, Mandelstam, Simone A, McGillivray, George, McIlroy, Alissandra, Méneret, Aurélie, Mignot, Cyril, Morcom, Laura R, Odent, Sylvie, Paolino, Annalisa, Pope, Kate, Riant, Florence, Robinson, Gail A, Spencer-Smith, Megan, Srour, Myriam, Stephenson, Sarah E M, Tankard, Rick, Trouillard, Oriane, Welniarz, Quentin, Wood, Amanda, Brice, Alexis, Rouleau, Guy, Attié-Bitach, Tania, Delatycki, Martin B, Mandel, Jean-Louis, Amor, David J, Roze, Emmanuel, Piton, Amélie, Bahlo, Melanie, Billette de Villemeur, Thierry, Sherr, Elliott H, Leventer, Richard J, Richards, Linda J, Lockhart, Paul J, Depienne, Christel

“…Linda Richards, Paul Lockhart, Christel Depienne and colleagues identify heterozygous DCC mutations in four families and five sporadic individuals with…”
Get full text

Genetic and phenotypic dissection of 1q43q44 microdeletion syndrome and neurodevelopmental phenotypes associated with mutations in ZBTB18 and HNRNPU by Depienne, Christel, Nava, Caroline, Keren, Boris, Heide, Solveig, Rastetter, Agnès, Passemard, Sandrine, Chantot-Bastaraud, Sandra, Moutard, Marie-Laure, Agrawal, Pankaj B., VanNoy, Grace, Stoler, Joan M., Amor, David J., Billette de Villemeur, Thierry, Doummar, Diane, Alby, Caroline, Cormier-Daire, Valérie, Garel, Catherine, Marzin, Pauline, Scheidecker, Sophie, de Saint-Martin, Anne, Hirsch, Edouard, Korff, Christian, Bottani, Armand, Faivre, Laurence, Verloes, Alain, Orzechowski, Christine, Burglen, Lydie, Leheup, Bruno, Roume, Joelle, Andrieux, Joris, Sheth, Frenny, Datar, Chaitanya, Parker, Michael J., Pasquier, Laurent, Odent, Sylvie, Naudion, Sophie, Delrue, Marie-Ange, Le Caignec, Cédric, Vincent, Marie, Isidor, Bertrand, Renaldo, Florence, Stewart, Fiona, Toutain, Annick, Koehler, Udo, Häckl, Birgit, von Stülpnagel, Celina, Kluger, Gerhard, Møller, Rikke S., Pal, Deb, Jonson, Tord, Soller, Maria, Verbeek, Nienke E., van Haelst, Mieke M., de Kovel, Carolien, Koeleman, Bobby, Monroe, Glen, van Haaften, Gijs, Attié-Bitach, Tania, Boutaud, Lucile, Héron, Delphine, Mignot, Cyril

“…Subtelomeric 1q43q44 microdeletions cause a syndrome associating intellectual disability, microcephaly, seizures and anomalies of the corpus callosum. Despite…”
Get full text

FXTAS: New insights and the need for revised diagnostic criteria by APARTIS, Emmanuelle, BLANCHER, Anne, WANG, Adrien, TISON, François, ROUE-JAGOT, Carole, SEDEL, Frederic, CHARLES, Perrine, WHALEN, Sandra, HERON, Delphine, THOBOIS, Stephane, POISSON, Alice, LESCA, Gaetan, MEISSNER, Wassilios G, OUVRARD-HERNANDEZ, Anne-Marie, FRAIX, Valérie, PALFI, Stephane, HABERT, Marie-Odile, GAYMARD, Bertrand, DUSSAULE, Jean-Claude, POLLAK, Pierre, VIDAILHET, Marie, DURR, Alexandra, BARBOT, Jean-Claude, GUYANT-MARECHAL, Lucie, GOURLET, Veronique, BRICE, Alexis, ANHEIM, Mathieu, MALTETE, David, DE BROUCKER, Thomas, LEGRAND, Andre-Pierre, BOUZENADA, Hichem, TRAN THANH, Hung, SALLANSONNET-FROMENT, Magali

“…Fragile X-associated tremor ataxia syndrome (FXTAS) is defined by FMR1 premutation, cerebellar ataxia, intentional tremor, and middle cerebellar peduncle (MCP)…”
Get full text

Phenotype and genotype analysis of a French cohort of 119 patients with CHARGE syndrome by Legendre, Marine, Abadie, Véronique, Attié‐Bitach, Tania, Philip, Nicole, Busa, Tiffany, Bonneau, Dominique, Colin, Estelle, Dollfus, Hélène, Lacombe, Didier, Toutain, Annick, Blesson, Sophie, Julia, Sophie, Martin‐Coignard, Dominique, Geneviève, David, Leheup, Bruno, Odent, Sylvie, Jouk, Pierre‐Simon, Mercier, Sandra, Faivre, Laurence, Vincent‐Delorme, Catherine, Francannet, Christine, Naudion, Sophie, Mathieu‐Dramard, Michèle, Delrue, Marie‐Ange, Goldenberg, Alice, Héron, Delphine, Parent, Philippe, Touraine, Renaud, Layet, Valérie, Sanlaville, Damien, Quélin, Chloé, Moutton, Sébastien, Fradin, Mélanie, Jacquette, Aurélia, Sigaudy, Sabine, Pinson, Lucile, Sarda, Pierre, Guerrot, Anne‐Marie, Rossi, Massimiliano, Masurel‐Paulet, Alice, El Chehadeh, Salima, Piguel, Xavier, Rodriguez‐Ballesteros, Montserrat, Ragot, Stéphanie, Lyonnet, Stanislas, Bilan, Frédéric, Gilbert‐Dussardier, Brigitte

“…CHARGE syndrome (CS) is a genetic disorder whose first description included Coloboma, Heart disease, Atresia of choanae, Retarded growth and development,…”
Get full text

Expectations, needs and mid-term outcomes in people accessing to secondary findings from ES: 1st French mixed study (FIND Study) by Viora-Dupont, Eléonore, Robert, Françoise, Chassagne, Aline, Pélissier, Aurore, Staraci, Stéphanie, Sanlaville, Damien, Edery, Patrick, Lesca, Gaetan, Putoux, Audrey, Pons, Linda, Cadenes, Amandine, Baurand, Amandine, Sawka, Caroline, Bertolone, Geoffrey, Spetchian, Myrtille, Yousfi, Meriem, Salvi, Dominique, Gautier, Elodie, Vitobello, Antonio, Denommé-Pichon, Anne-Sophie, Bruel, Ange-Line, Tran Mau-Them, Frédéric, Faudet, Anne, Keren, Boris, Labalme, Audrey, Chatron, Nicolas, Abel, Carine, Dupuis-Girod, Sophie, Poisson, Alice, Buratti, Julien, Mignot, Cyril, Afenjar, Alexandra, Whalen, Sandra, Charles, Perrine, Heide, Solveig, Mouthon, Linda, Moutton, Sébastien, Sorlin, Arthur, Nambot, Sophie, Briffaut, Anne-Sophie, Asensio, Marie-Laure, Philippe, Christophe, Thauvin-Robinet, Christel, Héron, Delphine, Rossi, Massimiliano, Meunier-Bellard, Nicolas, Gargiulo, Marcela, Peyron, Christine, Binquet, Christine, Faivre, Laurence

“…Generation and subsequently accessibility of secondary findings (SF) in diagnostic practice is a subject of debate around the world and particularly in Europe…”
Get full text

Evaluation of DNA Methylation Episignatures for Diagnosis and Phenotype Correlations in 42 Mendelian Neurodevelopmental Disorders by Aref-Eshghi, Erfan, Kerkhof, Jennifer, Pedro, Victor P., France, Groupe DI, Barat-Houari, Mouna, Ruiz-Pallares, Nathalie, Andrau, Jean-Christophe, Lacombe, Didier, Van-Gils, Julien, Fergelot, Patricia, Dubourg, Christéle, Cormier-Daire, Valerie, Rondeau, Sophie, Lecoquierre, François, Saugier-Veber, Pascale, Nicolas, Gaël, Lesca, Gaetan, Chatron, Nicolas, Sanlaville, Damien, Vitobello, Antonio, Faivre, Laurence, Thauvin-Robinet, Christel, Laumonnier, Frederic, Raynaud, Martine, Alders, Mariëlle, Mannens, Marcel, Henneman, Peter, Hennekam, Raoul C., Velasco, Guillaume, Francastel, Claire, Ulveling, Damien, Ciolfi, Andrea, Pizzi, Simone, Tartaglia, Marco, Heide, Solveig, Héron, Delphine, Mignot, Cyril, Keren, Boris, Whalen, Sandra, Afenjar, Alexandra, Bienvenu, Thierry, Campeau, Philippe M., Rousseau, Justine, Levy, Michael A., Brick, Lauren, Kozenko, Mariya, Balci, Tugce B., Siu, Victoria Mok, Stuart, Alan, Kadour, Mike, Masters, Jennifer, Takano, Kyoko, Kleefstra, Tjitske, de Leeuw, Nicole, Field, Michael, Shaw, Marie, Gecz, Jozef, Ainsworth, Peter J., Lin, Hanxin, Rodenhiser, David I., Friez, Michael J., Tedder, Matt, Lee, Jennifer A., DuPont, Barbara R., Stevenson, Roger E., Skinner, Steven A., Schwartz, Charles E., Genevieve, David, Sadikovic, Bekim

Get full text

Genetic variants in components of the NALCN–UNC80–UNC79 ion channel complex cause a broad clinical phenotype (NALCN channelopathies) by Bramswig, Nuria C., Bertoli-Avella, Aida M., Albrecht, Beate, Al Aqeel, Aida I., Alhashem, Amal, Al-Sannaa, Nouriya, Bah, Maissa, Bröhl, Katharina, Depienne, Christel, Dorison, Nathalie, Doummar, Diane, Ehmke, Nadja, Elbendary, Hasnaa M., Gorokhova, Svetlana, Héron, Delphine, Horn, Denise, James, Kiely, Keren, Boris, Kuechler, Alma, Ismail, Samira, Issa, Mahmoud Y., Marey, Isabelle, Mayer, Michèle, McEvoy-Venneri, Jennifer, Megarbane, Andre, Mignot, Cyril, Mohamed, Sarar, Nava, Caroline, Philip, Nicole, Ravix, Cecile, Rolfs, Arndt, Sadek, Abdelrahim Abdrabou, Segebrecht, Lara, Stanley, Valentina, Trautman, Camille, Valence, Stephanie, Villard, Laurent, Wieland, Thomas, Engels, Hartmut, Strom, Tim M., Zaki, Maha S., Gleeson, Joseph G., Lüdecke, Hermann-Josef, Bauer, Peter, Wieczorek, Dagmar

“…NALCN is a conserved cation channel, which conducts a permanent sodium leak current and regulates resting membrane potential and neuronal excitability. It is…”
Get full text

Germline KRAS and BRAF mutations in cardio-facio-cutaneous syndrome by Heron, Delphine, Okamoto, Nobuhiko, Hennekam, Raoul C M, Ohashi, Hirofumi, Wilson, Louise, Kurosawa, Kenji, Baumann, Clarisse, Wieczorek, Dagmar, Kavamura, Maria Ines, Matsubara, Yoichi, Gillessen-Kaesbach, Gabriele, Kaname, Tadashi, Naritomi, Kenji, Kato, Kumi, Narumi, Yoko, Neri, Giovanni, Corona, Giuseppina, Aoki, Yoko, Niihori, Tetsuya, Cavé, Hélène, Verloes, Alain, Matsumoto, Naomichi, Kure, Shigeo, Bonneau, Dominique

“…Cardio-facio-cutaneous (CFC) syndrome is characterized by a distinctive facial appearance, heart defects and mental retardation. It phenotypically overlaps…”
Get full text

ARID1B mutations are the major genetic cause of corpus callosum anomalies in patients with intellectual disability by Mignot, Cyril, Moutard, Marie-Laure, Rastetter, Agnès, Boutaud, Lucile, Heide, Solveig, Billette, Thierry, Doummar, Diane, Garel, Catherine, Afenjar, Alexandra, Jacquette, Aurélia, Lacombe, Didier, Verloes, Alain, Bole-Feysot, Christine, Nitschké, Patrick, Masson, Cécile, Faudet, Anne, Lesne, Fabien, Bienvenu, Thierry, Alby, Caroline, Attié-Bitach, Tania, Depienne, Christel, Nava, Caroline, Héron, Delphine

Get full text

Variants in TCF20 in neurodevelopmental disability: description of 27 new patients and review of literature by Torti, Erin, Keren, Boris, Palmer, Elizabeth E., Zhu, Zehua, Afenjar, Alexandra, Anderson, Ilse. J., Andrews, Marisa V., Atkinson, Celia, Au, Margaret, Berry, Susan A., Bowling, Kevin M., Boyle, Jackie, Buratti, Julien, Cathey, Sara S., Charles, Perrine, Cogne, Benjamin, Courtin, Thomas, Escobar, Luis F., Finley, Sabra Ledare, Graham, John M., Grange, Dorothy K., Heron, Delphine, Hewson, Stacy, Hiatt, Susan M., Hibbs, Kathleen A., Jayakar, Parul, Kalsner, Louisa, Larcher, Lise, Lesca, Gaetan, Mark, Paul R., Miller, Kathryn, Nava, Caroline, Nizon, Mathilde, Pai, G. Shashidhar, Pappas, John, Parsons, Gretchen, Payne, Katelyn, Putoux, Audrey, Rabin, Rachel, Sabatier, Isabelle, Shinawi, Marwan, Shur, Natasha, Skinner, Steven A., Valence, Stephanie, Warren, Hannah, Whalen, Sandra, Crunk, Amy, Douglas, Ganka, Monaghan, Kristin G., Person, Richard E., Willaert, Rebecca, Solomon, Benjamin D., Juusola, Jane

“…To define the clinical characteristics of patients with variants in TCF20, we describe 27 patients, 26 of whom were identified via exome sequencing. We compare…”
Get full text

Neurodevelopmental phenotype in 36 new patients with 8p inverted duplication–deletion: Genotype–phenotype correlation for anomalies of the corpus callosum by Vibert, Roseline, Mignot, Cyril, Keren, Boris, Chantot‐Bastaraud, Sandra, Portnoï, Marie‐France, Nouguès, Marie‐Christine, Moutard, Marie‐Laure, Faudet, Anne, Whalen, Sandra, Haye, Damien, Garel, Catherine, Chatron, Nicolas, Rossi, Massimiliano, Vincent‐Delorme, Catherine, Boute, Odile, Delobel, Bruno, Andrieux, Joris, Devillard, Françoise, Coutton, Charles, Puechberty, Jacques, Pebrel‐Richard, Céline, Colson, Cindy, Gerard, Marion, Missirian, Chantal, Sigaudy, Sabine, Busa, Tiffany, Doco‐Fenzy, Martine, Malan, Valérie, Rio, Marlène, Doray, Bérénice, Sanlaville, Damien, Siffroi, Jean‐Pierre, Héron, Delphine, Heide, Solveig

“…Inverted duplication deletion 8p [invdupdel(8p)] is a complex and rare chromosomal rearrangement that combines a distal deletion and an inverted interstitial…”
Get full text

Mechanisms for variable expressivity of inherited SCN1A mutations causing Dravet syndrome by Depienne, Christel, Trouillard, Oriane, Gourfinkel-An, Isabelle, Saint-Martin, Cécile, Bouteiller, Delphine, Graber, Denis, Barthez-Carpentier, Marie-Anne, Gautier, Agnès, Villeneuve, Nathalie, Dravet, Charlotte, Livet, Marie-Odile, Rivier-Ringenbach, Clothilde, Adam, Claude, Dupont, Sophie, Baulac, Stéphanie, Héron, Delphine, Nabbout, Rima, Leguern, Eric

“…BACKGROUND Mutations in SCN1A can cause genetic epilepsy with febrile seizures plus (GEFS+, inherited missense mutations) or Dravet syndrome (DS, de novo…”
Get more information

Early-onset encephalopathy with paroxysmal movement disorders and epileptic seizures without hemiplegic attacks: About three children with novel ATP1A3 mutations by Marzin, Pauline, Mignot, Cyril, Dorison, Nathalie, Dufour, Louis, Ville, Dorothée, Kaminska, Anna, Panagiotakaki, Eleni, Dienpendaele, Anne-Sophie, Penniello, Marie-José, Nougues, Marie-Christine, Keren, Boris, Depienne, Christel, Nava, Caroline, Milh, Mathieu, Villard, Laurent, Richelme, Christian, Rivier, Clotilde, Whalen, Sandra, Heron, Delphine, Lesca, Gaëtan, Doummar, Diane

“…Heterozygous mutations in the ATP1A3 gene are responsible for various neurological disorders, ranging from early-onset alternating hemiplegia of childhood to…”
Get full text

Screening for Genomic Rearrangements and Methylation Abnormalities of the 15q11-q13 Region in Autism Spectrum Disorders by Depienne, Christel, Moreno-De-Luca, Daniel, Heron, Delphine, Bouteiller, Delphine, Gennetier, Aurélie, Delorme, Richard, Chaste, Pauline, Siffroi, Jean-Pierre, Chantot-Bastaraud, Sandra, Benyahia, Baya, Trouillard, Oriane, Nygren, Gudrun, Kopp, Svenny, Johansson, Maria, Rastam, Maria, Burglen, Lydie, Leguern, Eric, Verloes, Alain, Leboyer, Marion, Brice, Alexis, Gillberg, Christopher, Betancur, Catalina

“…Background Maternally derived duplications of the 15q11-q13 region are the most frequently reported chromosomal aberrations in autism spectrum disorders (ASD)…”
Get full text

De novo and biallelic DEAF1 variants cause a phenotypic spectrum by Nabais Sá, Maria J., Jensik, Philip J., McGee, Stacey R., Parker, Michael J., Lahiri, Nayana, McNeil, Evan P., Kroes, Hester Y., Hagerman, Randi J., Harrison, Rachel E., Montgomery, Tara, Splitt, Miranda, Palmer, Elizabeth E., Sachdev, Rani K., Mefford, Heather C., Scott, Abbey A., Martinez-Agosto, Julian A., Lorenz, Rüdiger, Orenstein, Naama, Berg, Jonathan N., Amiel, Jeanne, Heron, Delphine, Keren, Boris, Cobben, Jan-Maarten, Menke, Leonie A., Marco, Elysa J., Graham, John M., Pierson, Tyler Mark, Karimiani, Ehsan Ghayoor, Maroofian, Reza, Manzini, M. Chiara, Cauley, Edmund S., Colombo, Roberto, Odent, Sylvie, Dubourg, Christele, Phornphutkul, Chanika, de Brouwer, Arjan P.M., de Vries, Bert B.A., Vulto-vanSilfhout, Anneke T.

“…To investigate the effect of different DEAF1 variants on the phenotype of patients with autosomal dominant and recessive inheritance patterns and on DEAF1…”
Get full text