A novel homozygous KCNQ3 loss‐of‐function variant causes non‐syndromic intellectual disability and neonatal‐onset pharmacodependent epilepsy

por Lauritano, Anna, Moutton, Sebastien, Longobardi, Elena, Tran Mau‐Them, Frédéric, Laudati, Giusy, Nappi, Piera, Soldovieri, Maria Virginia, Ambrosino, Paolo, Cataldi, Mauro, Jouan, Thibaud, Lehalle, Daphné, Maurey, Hélène, Philippe, Christophe, Miceli, Francesco, Vitobello, Antonio, Taglialatela, Maurizio
Publicado 2019

Interest of exome sequencing trio‐like strategy based on pooled parental DNA for diagnosis and translational research in rare diseases

por Tran Mau‐Them, Frederic, Duffourd, Yannis, Vitobello, Antonio, Bruel, Ange‐Line, Denommé‐Pichon, Anne‐Sophie, Nambot, Sophie, Delanne, Julian, Moutton, Sebastien, Sorlin, Arthur, Couturier, Victor, Bourgeois, Valentin, Chevarin, Martin, Poe, Charlotte, Mosca‐Boidron, Anne‐Laure, Callier, Patrick, Safraou, Hana, Faivre, Laurence, Philippe, Christophe, Thauvin‐Robinet, Christel
Publicado 2021

Craniofacial features of POLR3-related leukodystrophy caused by biallelic variants in POLR3A, POLR3B and POLR1C

por Mirchi, Amytice, Guay, Simon-Pierre, Tran, Luan T, Wolf, Nicole I, Vanderver, Adeline, Brais, Bernard, Sylvain, Michel, Pohl, Daniela, Rossignol, Elsa, Saito, Michael, Moutton, Sebastien, González-Gutiérrez-Solana, Luis, Thiffault, Isabelle, Kruer, Michael C, Moron, Dolores Gonzales, Kauffman, Marcelo, Goizet, Cyril, Sztriha, László, Glamuzina, Emma, Melançon, Serge B, Naidu, Sakkubai, Retrouvey, Jean-Marc, Lacombe, Suzanne, Bernardino-Cuesta, Beatriz, De Bie, Isabelle, Bernard, Geneviève
Publicado 2023

Delineating FOXG1 syndrome: From congenital microcephaly to hyperkinetic encephalopathy

por Vegas, Nancy, Cavallin, Mara, Maillard, Camille, Boddaert, Nathalie, Toulouse, Joseph, Schaefer, Elise, Lerman-Sagie, Tally, Lev, Dorit, Magalie, Barth, Moutton, Sébastien, Haan, Eric, Isidor, Bertrand, Heron, Delphine, Milh, Mathieu, Rondeau, Stéphane, Michot, Caroline, Valence, Stephanie, Wagner, Sabrina, Hully, Marie, Mignot, Cyril, Masurel, Alice, Datta, Alexandre, Odent, Sylvie, Nizon, Mathilde, Lazaro, Leila, Vincent, Marie, Cogné, Benjamin, Guerrot, Anne Marie, Arpin, Stéphanie, Pedespan, Jean Michel, Caubel, Isabelle, Pontier, Benedicte, Troude, Baptiste, Rivier, Francois, Philippe, Christophe, Bienvenu, Thierry, Spitz, Marie-Aude, Bery, Amandine, Bahi-Buisson, Nadia
Publicado 2018

OMIXCARE: OMICS technologies solved about 33% of the patients with heterogeneous rare neuro-developmental disorders and negative exome sequencing results and identified 13% additio...

por Colin, Estelle, Duffourd, Yannis, Tisserant, Emilie, Relator, Raissa, Bruel, Ange-Line, Tran Mau-Them, Frédéric, Denommé-Pichon, Anne-Sophie, Safraou, Hana, Delanne, Julian, Jean-Marçais, Nolwenn, Keren, Boris, Isidor, Bertrand, Vincent, Marie, Mignot, Cyril, Heron, Delphine, Afenjar, Alexandra, Heide, Solveig, Faudet, Anne, Charles, Perrine, Odent, Sylvie, Herenger, Yvan, Sorlin, Arthur, Moutton, Sébastien, Kerkhof, Jennifer, McConkey, Haley, Chevarin, Martin, Poë, Charlotte, Couturier, Victor, Bourgeois, Valentin, Callier, Patrick, Boland, Anne, Olaso, Robert, Philippe, Christophe, Sadikovic, Bekim, Thauvin-Robinet, Christel, Faivre, Laurence, Deleuze, Jean-François, Vitobello, Antonio
Publicado 2022

Stepwise use of genomics and transcriptomics technologies increases diagnostic yield in Mendelian disorders

por Colin, Estelle, Duffourd, Yannis, Chevarin, Martin, Tisserant, Emilie, Verdez, Simon, Paccaud, Julien, Bruel, Ange-Line, Tran Mau-Them, Frédéric, Denommé-Pichon, Anne-Sophie, Thevenon, Julien, Safraou, Hana, Besnard, Thomas, Goldenberg, Alice, Cogné, Benjamin, Isidor, Bertrand, Delanne, Julian, Sorlin, Arthur, Moutton, Sébastien, Fradin, Mélanie, Dubourg, Christèle, Gorce, Magali, Bonneau, Dominique, El Chehadeh, Salima, Debray, François-Guillaume, Doco-Fenzy, Martine, Uguen, Kevin, Chatron, Nicolas, Aral, Bernard, Marle, Nathalie, Kuentz, Paul, Boland, Anne, Olaso, Robert, Deleuze, Jean-François, Sanlaville, Damien, Callier, Patrick, Philippe, Christophe, Thauvin-Robinet, Christel, Faivre, Laurence, Vitobello, Antonio
Publicado 2023

Combining globally search for a regular expression and print matching lines with bibliographic monitoring of genomic database improves diagnosis

por Tran Mau-Them, Frédéric, Overs, Alexis, Bruel, Ange-Line, Duquet, Romain, Thareau, Mylene, Denommé-Pichon, Anne-Sophie, Vitobello, Antonio, Sorlin, Arthur, Safraou, Hana, Nambot, Sophie, Delanne, Julian, Moutton, Sebastien, Racine, Caroline, Engel, Camille, De Giraud d’Agay, Melchior, Lehalle, Daphne, Goldenberg, Alice, Willems, Marjolaine, Coubes, Christine, Genevieve, David, Verloes, Alain, Capri, Yline, Perrin, Laurence, Jacquemont, Marie-Line, Lambert, Laetitia, Lacaze, Elodie, Thevenon, Julien, Hana, Nadine, Van-Gils, Julien, Dubucs, Charlotte, Bizaoui, Varoona, Gerard-Blanluet, Marion, Lespinasse, James, Mercier, Sandra, Guerrot, Anne-Marie, Maystadt, Isabelle, Tisserant, Emilie, Faivre, Laurence, Philippe, Christophe, Duffourd, Yannis, Thauvin-Robinet, Christel
Publicado 2023

The diagnostic rate of inherited metabolic disorders by exome sequencing in a cohort of 547 individuals with developmental disorders

por Delanne, Julian, Bruel, Ange-Line, Huet, Frédéric, Moutton, Sébastien, Nambot, Sophie, Grisval, Margot, Houcinat, Nada, Kuentz, Paul, Sorlin, Arthur, Callier, Patrick, Jean-Marcais, Nolwenn, Mosca-Boidron, Anne-Laure, Mau-Them, Frédéric Tran, Denommé-Pichon, Anne-Sophie, Vitobello, Antonio, Lehalle, Daphné, El Chehadeh, Salima, Francannet, Christine, Lebrun, Marine, Lambert, Laetitia, Jacquemont, Marie-Line, Gerard-Blanluet, Marion, Alessandri, Jean-Luc, Willems, Marjolaine, Thevenon, Julien, Chouchane, Mondher, Darmency, Véronique, Fatus-Fauconnier, Clémence, Gay, Sébastien, Bournez, Marie, Masurel, Alice, Leguy, Vanessa, Duffourd, Yannis, Philippe, Christophe, Feillet, François, Faivre, Laurence, Thauvin-Robinet, Christel
Publicado 2021

Morphology and genomic hallmarks of breast tumours developed by ATM deleterious variant carriers

por Renault, Anne-Laure, Mebirouk, Noura, Fuhrmann, Laetitia, Bataillon, Guillaume, Cavaciuti, Eve, Le Gal, Dorothée, Girard, Elodie, Popova, Tatiana, La Rosa, Philippe, Beauvallet, Juana, Eon-Marchais, Séverine, Dondon, Marie-Gabrielle, d’Enghien, Catherine Dubois, Laugé, Anthony, Chemlali, Walid, Raynal, Virginie, Labbé, Martine, Bièche, Ivan, Baulande, Sylvain, Bay, Jacques-Olivier, Berthet, Pascaline, Caron, Olivier, Buecher, Bruno, Faivre, Laurence, Fresnay, Marc, Gauthier-Villars, Marion, Gesta, Paul, Janin, Nicolas, Lejeune, Sophie, Maugard, Christine, Moutton, Sébastien, Venat-Bouvet, Laurence, Zattara, Hélène, Fricker, Jean-Pierre, Gladieff, Laurence, Coupier, Isabelle, Chenevix-Trench, Georgia, Hall, Janet, Vincent-Salomon, Anne, Stoppa-Lyonnet, Dominique, Andrieu, Nadine, Lesueur, Fabienne
Publicado 2018

Opposite Modulation of RAC1 by Mutations in TRIO Is Associated with Distinct, Domain-Specific Neurodevelopmental Disorders

por Barbosa, Sónia, Greville-Heygate, Stephanie, Bonnet, Maxime, Godwin, Annie, Fagotto-Kaufmann, Christine, Kajava, Andrey V., Laouteouet, Damien, Mawby, Rebecca, Wai, Htoo Aung, Dingemans, Alexander J.M., Hehir-Kwa, Jayne, Willems, Marjorlaine, Capri, Yline, Mehta, Sarju G., Cox, Helen, Goudie, David, Vansenne, Fleur, Turnpenny, Peter, Vincent, Marie, Cogné, Benjamin, Lesca, Gaëtan, Hertecant, Jozef, Rodriguez, Diana, Keren, Boris, Burglen, Lydie, Gérard, Marion, Putoux, Audrey, Cantagrel, Vincent, Siquier-Pernet, Karine, Rio, Marlene, Banka, Siddharth, Sarkar, Ajoy, Steeves, Marcie, Parker, Michael, Clement, Emma, Moutton, Sébastien, Tran Mau-Them, Frédéric, Piton, Amélie, de Vries, Bert B.A., Guille, Matthew, Debant, Anne, Schmidt, Susanne, Baralle, Diana
Publicado 2020

Neuroimaging findings in Mowat–Wilson syndrome: a study of 54 patients

por Garavelli, Livia, Ivanovski, Ivan, Caraffi, Stefano Giuseppe, Santodirocco, Daniela, Pollazzon, Marzia, Cordelli, Duccio Maria, Abdalla, Ebtesam, Accorsi, Patrizia, Adam, Margaret P., Baldo, Chiara, Bayat, Allan, Belligni, Elga, Bonvicini, Federico, Breckpot, Jeroen, Callewaert, Bert, Cocchi, Guido, Cuturilo, Goran, Devriendt, Koenraad, Dinulos, Mary Beth, Djuric, Olivera, Epifanio, Roberta, Faravelli, Francesca, Formisano, Debora, Giordano, Lucio, Grasso, Marina, Grønborg, Sabine, Iodice, Alessandro, Iughetti, Lorenzo, Lacombe, Didier, Maggi, Massimo, Malbora, Baris, Mammi, Isabella, Moutton, Sebastien, Møller, Rikke, Muschke, Petra, Napoli, Manuela, Pantaleoni, Chiara, Pascarella, Rosario, Pellicciari, Alessandro, Poch-Olive, Maria Luisa, Raviglione, Federico, Rivieri, Francesca, Russo, Carmela, Savasta, Salvatore, Scarano, Gioacchino, Selicorni, Angelo, Silengo, Margherita, Sorge, Giovanni, Tarani, Luigi, Tone, Luis Gonzaga, Toutain, Annick, Trimouille, Aurelien, Valera, Elvis Terci, Vergano, Samantha Schrier, Zanotta, Nicoletta, Zollino, Marcella, Dobyns, William B, Paciorkowski, Alex R
Publicado 2017

The broad phenotypic spectrum of PPP2R1A-related neurodevelopmental disorders correlates with the degree of biochemical dysfunction

por Lenaerts, Lisa, Reynhout, Sara, Verbinnen, Iris, Laumonnier, Frédéric, Toutain, Annick, Bonnet-Brilhault, Frédérique, Hoorne, Yana, Joss, Shelagh, Chassevent, Anna K., Smith-Hicks, Constance, Loeys, Bart, Joset, Pascal, Steindl, Katharina, Rauch, Anita, Mehta, Sarju G., Chung, Wendy K., Devriendt, Koenraad, Holder, Susan E., Jewett, Tamison, Baldwin, Lauren M., Wilson, William G., Towner, Shelley, Srivastava, Siddharth, Johnson, Hannah F., Daumer-Haas, Cornelia, Baethmann, Martina, Ruiz, Anna, Gabau, Elisabeth, Jain, Vani, Varghese, Vinod, Al-Beshri, Ali, Fulton, Stephen, Wechsberg, Oded, Orenstein, Naama, Prescott, Katrina, Childs, Anne-Marie, Faivre, Laurence, Moutton, Sébastien, Sullivan, Jennifer A., Shashi, Vandana, Koudijs, Suzanne M., Heijligers, Malou, Kivuva, Emma, McTague, Amy, Male, Alison, van Ierland, Yvette, Plecko, Barbara, Maystadt, Isabelle, Hamid, Rizwan, Hannig, Vickie L., Houge, Gunnar, Janssens, Veerle
Publicado 2020

Pathogenic variants in SMARCA1 cause an X-linked neurodevelopmental disorder modulated by NURF complex composition

por Picketts, David, Mirzaa, Ghayda, Yan, Keqin, Relator, Raissa, Timpano, Sara, Yalcin, Binnaz, Collins, Stephan, Ziegler, Alban, Pao, Emily, Oyama, Nora, Brischoux-Boucher, Elise, PIARD, Juliette, Monaghan, Kristin, Sacoto, Maria Guillen, Dobyns, William, Park, Kristen, Fernández-Mayoralas, Daniel, Fernández-Jaén, Alberto, Jayakar, Parul, Brusco, Alfredo, Antona, Vincenzo, Giorgio, Elisa, Kvarnung, Malin, Isidor, Bertrand, Conrad, Solène, Cogné, Benjamin, Deb, Wallid, Stuurman, K.E., Sterbova, Katalin, Smal, Noor, Weckhuysen, Sarah, Oegema, Renske, Innes, Micheil, Latsko, Maeson, Ben-Omran, Tawfeg, Yeh, Rebecca, Kruer, Michael, Bakhtiari, Somayeh, Papavasiliou, Antigone, Moutton, Sébastien, Nambot, Sophie, Chanprasert, Sirisak, Paolucci, Sarah, Miller, Kait, Burton, Barbara, Kim, Katherine, O’Heir, Emily, Bruwer, Zandre, Donald, Kirsten, Kleefstra, Tjitske, Goldstein, Amy, Angle, Brad, Bontempo, Kelly, Miny, Peter, Joset, Pascal, Demurger, Florence, Hobson, Emma, Pang, Lewis, Carpenter, Lori, Li, Dong, Bonneau, Dominique, Sadikovic, Bekim
Publicado 2023

Prenatal diagnosis by trio exome sequencing in fetuses with ultrasound anomalies: A powerful diagnostic tool

por Tran Mau-Them, Frédéric, Delanne, Julian, Denommé-Pichon, Anne-Sophie, Safraou, Hana, Bruel, Ange-Line, Vitobello, Antonio, Garde, Aurore, Nambot, Sophie, Bourgon, Nicolas, Racine, Caroline, Sorlin, Arthur, Moutton, Sébastien, Marle, Nathalie, Rousseau, Thierry, Sagot, Paul, Simon, Emmanuel, Vincent-Delorme, Catherine, Boute, Odile, Colson, Cindy, Petit, Florence, Legendre, Marine, Naudion, Sophie, Rooryck, Caroline, Prouteau, Clément, Colin, Estelle, Guichet, Agnès, Ziegler, Alban, Bonneau, Dominique, Morel, Godelieve, Fradin, Mélanie, Lavillaureix, Alinoé, Quelin, Chloé, Pasquier, Laurent, Odent, Sylvie, Vera, Gabriella, Goldenberg, Alice, Guerrot, Anne-Marie, Brehin, Anne-Claire, Putoux, Audrey, Attia, Jocelyne, Abel, Carine, Blanchet, Patricia, Wells, Constance F., Deiller, Caroline, Nizon, Mathilde, Mercier, Sandra, Vincent, Marie, Isidor, Bertrand, Amiel, Jeanne, Dard, Rodolphe, Godin, Manon, Gruchy, Nicolas, Jeanne, Médéric, Schaeffer, Elise, Maillard, Pierre-Yves, Payet, Frédérique, Jacquemont, Marie-Line, Francannet, Christine, Sigaudy, Sabine, Bergot, Marine, Tisserant, Emilie, Ascencio, Marie-Laure, Binquet, Christine, Duffourd, Yannis, Philippe, Christophe, Faivre, Laurence, Thauvin-Robinet, Christel
Publicado 2023

The clinical and genetic spectrum of autosomal-recessive TOR1A-related disorders

por Saffari, Afshin, Lau, Tracy, Tajsharghi, Homa, Karimiani, Ehsan Ghayoor, Kariminejad, Ariana, Efthymiou, Stephanie, Zifarelli, Giovanni, Sultan, Tipu, Toosi, Mehran Beiraghi, Sedighzadeh, Sahar, Siu, Victoria Mok, Ortigoza-Escobar, Juan Darío, AlShamsi, Aisha M, Ibrahim, Shahnaz, Al-Sannaa, Nouriya Abbas, Al-Hertani, Walla, Sandra, Whalen, Tarnopolsky, Mark, Alavi, Shahryar, Li, Chumei, Day-Salvatore, Debra-Lynn, Martínez-González, Maria Jesús, Levandoski, Kristin M, Bedoukian, Emma, Madan-Khetarpal, Suneeta, Idleburg, Michaela J, Menezes, Minal Juliet, Siddharth, Aishwarya, Platzer, Konrad, Oppermann, Henry, Smitka, Martin, Collins, Felicity, Lek, Monkol, Shahrooei, Mohmmad, Ghavideldarestani, Maryam, Herman, Isabella, Rendu, John, Faure, Julien, Baker, Janice, Bhambhani, Vikas, Calderwood, Laurel, Akhondian, Javad, Imannezhad, Shima, Mirzadeh, Hanieh Sadat, Hashemi, Narges, Doosti, Mohammad, Safi, Mojtaba, Ahangari, Najmeh, Torbati, Paria Najarzadeh, Abedini, Soheila, Salpietro, Vincenzo, Gulec, Elif Yilmaz, Eshaghian, Safieh, Ghazavi, Mohammadreza, Pascher, Michael T, Vogel, Marina, Abicht, Angela, Moutton, Sébastien, Bruel, Ange-Line, Rieubland, Claudine, Gallati, Sabina, Strom, Tim M, Lochmüller, Hanns, Mohammadi, Mohammad Hasan, Alvi, Javeria Raza, Zackai, Elaine H, Keena, Beth A, Skraban, Cara M, Berger, Seth I, Andrew, Erin H, Rahimian, Elham, Morrow, Michelle M, Wentzensen, Ingrid M, Millan, Francisca, Henderson, Lindsay B, Dafsari, Hormos Salimi, Jungbluth, Heinz, Gomez-Ospina, Natalia, McRae, Anne, Peter, Merlene, Veltra, Danai, Marinakis, Nikolaos M, Sofocleous, Christalena, Ashrafzadeh, Farah, Pehlivan, Davut, Lemke, Johannes R, Melki, Judith, Benezit, Audrey, Bauer, Peter, Weis, Denisa, Lupski, James R, Senderek, Jan, Christodoulou, John, Chung, Wendy K, Goodchild, Rose, Offiah, Amaka C, Moreno-De-Luca, Andres, Suri, Mohnish, Ebrahimi-Fakhari, Darius, Houlden, Henry, Maroofian, Reza
Publicado 2023

PURA-Related Developmental and Epileptic Encephalopathy: Phenotypic and Genotypic Spectrum

por Johannesen, Katrine M., Gardella, Elena, Gjerulfsen, Cathrine E., Bayat, Allan, Rouhl, Rob P.W., Reijnders, Margot, Whalen, Sandra, Keren, Boris, Buratti, Julien, Courtin, Thomas, Wierenga, Klaas J., Isidor, Bertrand, Piton, Amélie, Faivre, Laurence, Garde, Aurore, Moutton, Sébastien, Tran-Mau-Them, Frédéric, Denommé-Pichon, Anne-Sophie, Coubes, Christine, Larson, Austin, Esser, Michael J., Appendino, Juan Pablo, Al-Hertani, Walla, Gamboni, Beatriz, Mampel, Alejandra, Mayorga, Lía, Orsini, Alessandro, Bonuccelli, Alice, Suppiej, Agnese, Van-Gils, Julien, Vogt, Julie, Damioli, Simona, Giordano, Lucio, Moortgat, Stephanie, Wirrell, Elaine, Hicks, Sarah, Kini, Usha, Noble, Nathan, Stewart, Helen, Asakar, Shailesh, Cohen, Julie S., Naidu, SakkuBai R., Collier, Ashley, Brilstra, Eva H., Li, Mindy H., Brew, Casey, Bigoni, Stefania, Ognibene, Davide, Ballardini, Elisa, Ruivenkamp, Claudia, Faggioli, Raffaella, Afenjar, Alexandra, Rodriguez, Diana, Bick, David, Segal, Devorah, Coman, David, Gunning, Boudewijn, Devinsky, Orrin, Demmer, Laurie A., Grebe, Theresa, Pruna, Dario, Cursio, Ida, Greenhalgh, Lynn, Graziano, Claudio, Singh, Rahul Raman, Cantalupo, Gaetano, Willems, Marjolaine, Yoganathan, Sangeetha, Góes, Fernanda, Leventer, Richard J., Colavito, Davide, Olivotto, Sara, Scelsa, Barbara, Andrade, Andrea V., Ratke, Kelly, Tokarz, Farha, Khan, Atiya S., Ormieres, Clothilde, Benko, William, Keough, Karen, Keros, Sotirios, Hussain, Shanawaz, Franques, Ashlea, Varsalone, Felicia, Grønborg, Sabine, Mignot, Cyril, Heron, Delphine, Nava, Caroline, Isapof, Arnaud, Borlot, Felippe, Whitney, Robyn, Ronan, Anne, Foulds, Nicola, Somorai, Marta, Brandsema, John, Helbig, Katherine L., Helbig, Ingo, Ortiz-González, Xilma R., Dubbs, Holly, Vitobello, Antonio, Anderson, Mel, Spadafore, Dominic, Hunt, David, Møller, Rikke S., Rubboli, Guido
Publicado 2021

Mechanism of KMT5B haploinsufficiency in neurodevelopment in humans and mice

por Sheppard, Sarah E., Bryant, Laura, Wickramasekara, Rochelle N., Vaccaro, Courtney, Robertson, Brynn, Hallgren, Jodi, Hulen, Jason, Watson, Cynthia J., Faundes, Victor, Duffourd, Yannis, Lee, Pearl, Simon, M. Celeste, de la Cruz, Xavier, Padilla, Natália, Flores-Mendez, Marco, Akizu, Naiara, Smiler, Jacqueline, Pellegrino Da Silva, Renata, Li, Dong, March, Michael, Diaz-Rosado, Abdias, Peixoto de Barcelos, Isabella, Choa, Zhao Xiang, Lim, Chin Yan, Dubourg, Christèle, Journel, Hubert, Demurger, Florence, Mulhern, Maureen, Akman, Cigdem, Lippa, Natalie, Andrews, Marisa, Baldridge, Dustin, Constantino, John, van Haeringen, Arie, Snoeck-Streef, Irina, Chow, Penny, Hing, Anne, Graham, John M., Au, Margaret, Faivre, Laurence, Shen, Wei, Mao, Rong, Palumbos, Janice, Viskochil, David, Gahl, William, Tifft, Cynthia, Macnamara, Ellen, Hauser, Natalie, Miller, Rebecca, Maffeo, Jessica, Afenjar, Alexandra, Doummar, Diane, Keren, Boris, Arn, Pamela, Macklin-Mantia, Sarah, Meerschaut, Ilse, Callewaert, Bert, Reis, André, Zweier, Christiane, Brewer, Carole, Saggar, Anand, Smeland, Marie F., Kumar, Ajith, Elmslie, Frances, Deshpande, Charu, Nizon, Mathilde, Cogne, Benjamin, van Ierland, Yvette, Wilke, Martina, van Slegtenhorst, Marjon, Koudijs, Suzanne, Chen, Jin Yun, Dredge, David, Pier, Danielle, Wortmann, Saskia, Kamsteeg, Erik-Jan, Koch, Johannes, Haynes, Devon, Pollack, Lynda, Titheradge, Hannah, Ranguin, Kara, Denommé-Pichon, Anne-Sophie, Weber, Sacha, Pérez de la Fuente, Rubén, Sánchez del Pozo, Jaime, Lezana Rosales, Jose Miguel, Joset, Pascal, Steindl, Katharina, Rauch, Anita, Mei, Davide, Mari, Francesco, Guerrini, Renzo, Lespinasse, James, Tran Mau-Them, Frédéric, Philippe, Christophe, Dauriat, Benjamin, Raymond, Laure, Moutton, Sébastien, Cueto-González, Anna M., Tan, Tiong Yang, Mignot, Cyril, Grotto, Sarah, Renaldo, Florence, Drivas, Theodore G., Hennessy, Laura, Raper, Anna, Parenti, Ilaria, Kaiser, Frank J., Kuechler, Alma, Busk, Øyvind L., Islam, Lily, Siedlik, Jacob A., Henderson, Lindsay B., Juusola, Jane, Person, Richard, Schnur, Rhonda E., Vitobello, Antonio, Banka, Siddharth, Bhoj, Elizabeth J., Stessman, Holly A. F.
Publicado 2023

Endocrine and Growth Abnormalities in 4H Leukodystrophy Caused by Variants in POLR3A, POLR3B, and POLR1C

por Pelletier, Félixe, Perrier, Stefanie, Cayami, Ferdy K, Mirchi, Amytice, Saikali, Stephan, Tran, Luan T, Ulrick, Nicole, Guerrero, Kether, Rampakakis, Emmanouil, van Spaendonk, Rosalina M L, Naidu, Sakkubai, Pohl, Daniela, Gibson, William T, Demos, Michelle, Goizet, Cyril, Tejera-Martin, Ingrid, Potic, Ana, Fogel, Brent L, Brais, Bernard, Sylvain, Michel, Sébire, Guillaume, Lourenço, Charles Marques, Bonkowsky, Joshua L, Catsman-Berrevoets, Coriene, Pinto, Pedro S, Tirupathi, Sandya, Strømme, Petter, de Grauw, Ton, Gieruszczak-Bialek, Dorota, Krägeloh-Mann, Ingeborg, Mierzewska, Hanna, Philippi, Heike, Rankin, Julia, Atik, Tahir, Banwell, Brenda, Benko, William S, Blaschek, Astrid, Bley, Annette, Boltshauser, Eugen, Bratkovic, Drago, Brozova, Klara, Cimas, Icíar, Clough, Christopher, Corenblum, Bernard, Dinopoulos, Argirios, Dolan, Gail, Faletra, Flavio, Fernandez, Raymond, Fletcher, Janice, Garcia Garcia, Maria Eugenia, Gasparini, Paolo, Gburek-Augustat, Janina, Gonzalez Moron, Dolores, Hamati, Aline, Harting, Inga, Hertzberg, Christoph, Hill, Alan, Hobson, Grace M, Innes, A Micheil, Kauffman, Marcelo, Kirwin, Susan M, Kluger, Gerhard, Kolditz, Petra, Kotzaeridou, Urania, La Piana, Roberta, Liston, Eriskay, McClintock, William, McEntagart, Meriel, McKenzie, Fiona, Melançon, Serge, Misbahuddin, Anjum, Suri, Mohnish, Monton, Fernando I, Moutton, Sebastien, Murphy, Raymond P J, Nickel, Miriam, Onay, Hüseyin, Orcesi, Simona, Özkınay, Ferda, Patzer, Steffi, Pedro, Helio, Pekic, Sandra, Pineda Marfa, Mercedes, Pizzino, Amy, Plecko, Barbara, Poll-The, Bwee Tien, Popovic, Vera, Rating, Dietz, Rioux, Marie-France, Rodriguez Espinosa, Norberto, Ronan, Anne, Ostergaard, John R, Rossignol, Elsa, Sanchez-Carpintero, Rocio, Schossig, Anna, Senbil, Nesrin, Sønderberg Roos, Laura K, Stevens, Cathy A, Synofzik, Matthis, Sztriha, László, Tibussek, Daniel, Timmann, Dagmar, Tonduti, Davide, van de Warrenburg, Bart P, Vázquez-López, Maria, Venkateswaran, Sunita, Wasling, Pontus, Wassmer, Evangeline, Webster, Richard I, Wiegand, Gert, Yoon, Grace, Rotteveel, Joost, Schiffmann, Raphael, van der Knaap, Marjo S, Vanderver, Adeline, Martos-Moreno, Gabriel Á, Polychronakos, Constantin, Wolf, Nicole I, Bernard, Geneviève
Publicado 2020