학술논문
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'학술논문'
에서 검색결과 447건 | 목록
1~20
Academic Journal
María del Rocío Pérez Baca; María Palomares-Bralo; Michiel Vanhooydonck; Lisa Hamerlinck; Eva D’haene; Sebastian Leimbacher; Eva Z. Jacobs; Laurenz De Cock; Erika D’haenens; Annelies Dheedene; Zoë Malfait; Lies Vantomme; Ananilia Silva; Kathleen Rooney; Xiaonan Zhao; Amir Hossein Saeidian; Nichole Marie Owen; Fernando Santos-Simarro; Roser Lleuger-Pujol; Sixto García-Miñaúr; Itsaso Losantos-García; Björn Menten; Gaia Gestri; Nicola Ragge; Abbey Scott; Alejandro Iglesias; Allyn McConkie-Rosell; Amy Kritzer; Ana Boto; Andi M. Lewis; Andreas Tzschach; Annarita Nicosia; Anne O’Donnell-Luria; Angela Peron; Ann-Charlotte Thuresson; Anneke Vulto-van-Silfhout; Antonio Novelli; Astrid S. Plomp; Balram Gangaram; Belén Gil-Fournier; Boris Keren; Casie Genetti; Chiara De Luca; Christian P. Schaaf; Claire Beneteau; Daniela Graziani; Daryl A. Scott; David A. Koolen; David Geneviéve; Dorine Bax; Elizabeth J. Leslie; Elizabeth Mizerik; Elizabeth Roeder; Emily Magness; Esther Nibbeling; Gaetan Lesca; Göran Annerén; Gregory M. Enns; Hilde Van Esch; Himanshu Goel; Inés Quintela; Jan Cobben; Jennifer L. Morrison; Jesus Eiris; Joan Stoler; Josephine Gao; Katharina Steindl; Katrina Dipple; Konstantinos Kolokotronis; Laurie H. Seaver; Lynda Pollack; Mahdi Motazacker; Manuela Gasparri; Margje Sinnema; Maria Cristina Digilio; Marie T. McDonald; Marisol Ibarra Ramírez; Martine Doco-Fenzy; Marzena Kucharczyk; Mathilde Nizon; Megan Boothe; Melanie C. O'Leary; Melissa T. Carter; Meredith Ross; Meredith Wilson; Merel Klaassens; Monia Ginevrino; Monica Hsiung Wojcik; Nathaniel Robin; Nicolas Chatron; Odile Boute; Pankaj Agrawal; Paolo Fontana; Paolo Zanoni; Pascal Joset; Pernille M. Torring; Ping Yee Billie Au; Servi Stevens; Soraya Ramiro León; Stephanie Baskin; Stephanie Parker DiTroia; Sue-Faye Siow; Tanguy Demaret; Vasilica Plaiasu; Virginia Clowes; Xi Luo; Yvonne Hilhorst-Hofstee; Bekim Sadikovic; Elke Bogaert; Kris Vleminckx; Thomas Naert; Delfien Syx; Bert Callewaert; Sarah Vergult
American Journal of Human Genetics, 112, 6, pp. 1388-1414
Academic Journal
Pacio Miguez, Marta; García-Miñaúr, Sixto; del Pozo, Ángela; Menéndez Suso, Juan José; Climent Alcalá, Francisco J.; Sánchez Holgado, María; Álvarez García, Patricia; Jiménez Rodríguez, Carmen; Santos-Simarro, Fernando; Palomares-Bralo, María
Anales de Pediatría (English Edition). 103(5)
Academic Journal
Marta Pacio Miguez; Sixto García-Miñaúr; Ángela del Pozo; Juan José Menéndez Suso; Francisco J. Climent Alcalá; María Sánchez Holgado; Patricia Álvarez García; Carmen Jiménez Rodríguez; Fernando Santos-Simarro; María Palomares-Bralo
Anales de Pediatría, Vol 103, Iss 5, Pp 503956- (2025)
Academic Journal
Keng Ioi Vong; Sangmoon Lee; Kit Sing Au; T. Blaine Crowley; Valeria Capra; Jeremiah Martino; Meade Haller; Camila Araújo; Hélio R. Machado; Renee George; Bryn Gerding; Kiely N. James; Valentina Stanley; Nan Jiang; Kameron Alu; Naomi Meave; Anna S. Nidhiry; Fiza Jiwani; Isaac Tang; Ashna Nisal; Ishani Jhamb; Arzoo Patel; Aakash Patel; Jennifer McEvoy-Venneri; Chelsea Barrows; Celina Shen; Yoo-Jin Ha; Robyn Howarth; Madison Strain; Allison Elizabeth Ashley-Koch; Matloob Azam; Sara Mumtaz; Gyang Markus Bot; Richard H. Finnell; Zoha Kibar; Ahmed I. Marwan; Gia Melikishvili; Hal S. Meltzer; Osvaldo M. Mutchinick; David A. Stevenson; Henry J. Mroczkowski; Betsy Ostrander; Erica Schindewolf; Julie Moldenhauer; Elaine H. Zackai; Beverly S. Emanuel; Sixto Garcia-Minaur; Beata A. Nowakowska; Roger E. Stevenson; Maha S. Zaki; Hope Northrup; Hanna K. McNamara; Kimberly A. Aldinger; Ian G. Phelps; Mei Deng; Ian A. Glass; Bernice Morrow; Donna M. McDonald-McGinn; Simone Sanna-Cherchi; Dolores J. Lamb; Joseph G. Gleeson; Allison Elizabeth Ashley Koch; Joan Le; Philip J. Lupo; Helio R. Machado; Tony Magana; Anna Yurrita; José Ramón Medina-Bereciartu; Caroline M. Kolvenbach; Shirlee Shril; Friedhelm Hildebrandt; Mahmoud M. Noureldeen; Aida MS. Salem; Yukitoshi Takahashi; Hormos Salimi-Dafsari; H. Westley Phillips; Brian Hanak; Bülent Kara; Ayfer Sakarya Güneş; David D. Gonda; Salman Kirmani; Tinatin Tkemaladze
Science, vol 384, iss 6695
Academic Journal
Lacombe, Didier; Bloch-Zupan, Agnès; Bredrup, Cecilie; Cooper, Edward; Houge, Sofia Douzgou; García-Miñaúr, Sixto; Kayserili, Hülya; Larizza, Lidia; Lopez Gonzalez, Vanesa; Menke, Leonie; Milani, Donatella; Saettini, Francesco; Stevens, Cathy; Tooke, Lloyd; van der Zee, Jill; van Genderen, Maria; Van-Gils, Julien; Waite, Jane; Adrien, Jean-Louis; Bartsch, Oliver; Bitoun, Pierre; Bouts, Antonia; Cueto-González, Anna; Dominguez-Garrido, Elena; Duijkers, Floor; Fergelot, Patricia; Halstead, Elizabeth; Huisman, Sylvia; Meossi, Camilla; Mullins, Jo; Nikkel, Sarah; Oliver, Chris; Prada, Elisabetta; Rei, Alessandra; Riddle, Ilka; Rodriguez-Fonseca, Cristina; Rodríguez Pena, Rebecca; Russell, Janet; Saba, Alicia; Santos-Simarro, Fernando; Simpson, Brittany; Smith, David; Stevens, Markus; Szakszon, Katalin; Taupiac, Emmanuelle; Totaro, Nadia; Valenzuena Palafoll, Irene; van der Kaay, Daniëlle; van Wijk, Michiel; Vyshka, Klea; Wiley, Susan; Hennekam, Raoul
J Med Genet
Docusalut
Conselleria de Salut i Consum del Govern de les Illes Balears
Lacombe, D, Bloch-Zupan, A, Bredrup, C, Cooper, E B, Houge, S D,García -Miñaúr , S, Kayserili, H L, Larizza, L, Lopez Gonzalez, V, Menke, L A, Milani, D, Saettini, F, Stevens, C A, Tooke, L, van der Zee, J A, Genderen, M M V, van-Gils, J, Waite, J, Adrien, J-L, Bartsch, O, Bitoun, P, Bouts, A H M, Cueto-González, A M, Dominguez-Garrido, E, Duijkers, F A, Fergelot, P, Halstead, E, Huisman, S A, Meossi, C, Mullins, J, Nikkel, S M, Oliver, C, Prada, E, Rei, A, Riddle, I, Rodriguez-Fonseca, C, Pena, R R, Russell, J, Saba, A, Santos-Simarro, F, Simpson, B N, Smith, D F, Stevens, M F, Szakszon, K, Taupiac, E, Totaro, N, Palafoll, I V, van der Kaay, D C M, van Wijk, M P, Vyshka, K, Wiley, S & Hennekam, R C 2024, 'Diagnosis and management in Rubinstein-Taybi syndrome : First international consensus statement', Journal of Medical Genetics, vol. 61, no. 6, jmg-2023-109438, pp. 503-519. https://doi.org/10.1136/jmg-2023-109438
Journal of Medical Genetics
Docusalut
Conselleria de Salut i Consum del Govern de les Illes Balears
Lacombe, D, Bloch-Zupan, A, Bredrup, C, Cooper, E B, Houge, S D,
Journal of Medical Genetics
Pérez Baca, María del Rocío; Palomares-Bralo, María; Vanhooydonck, Michiel; Hamerlinck, Lisa; D’haene, Eva; Leimbacher, Sebastian; Jacobs, Eva Z; De Cock, Laurenz; d’Haenens, Erika; Dheedene, Annelies; Malfait, Zoë; Vantomme, Lies; Silva, Ananilia; Rooney, Kathleen; Zhao, Xiaonan; Saeidian, Amir Hossein; Owen, Nichole Marie; Santos-Simarro, Fernando; Lleuger-Pujol, Roser; García-Miñaúr, Sixto; Losantos-García, Itsaso; Menten, Björn; Gestri, Gaia; Ragge, Nicola; Steindl, Katharina; Kolokotronis, Konstantinos; Zanoni, Paolo; et al
Academic Journal
Angius, Andrea; Baker, Janice A.; Bedoukian, Emma; Bhambhani, Vikas; Bodamer, Olaf; O’Brien, Alan; Clayton-Smith, Jill; Crisponi, Laura; Cueto González, Anna María; the DDD study; Devriendt, Koenraad; Garrido, Elena Dominguez; Ehmke, Nadja; van Eerde, Albertien; van den Elzen, Annette P.M.; Faivre, Laurence; Fisher, Laura; Flores-Daboub, Josue A.; Foster, Alison; Friedman, Jennifer; Gabau, Elisabeth; Galazzi, Elena; García-Miñaúr, Sixto; Garavelli, Livia; Gardeitchik, Thatjana; Gerkes, Erica H.; van Gils, Julien; Giltay, Jacques C.; Garcia, Aixa Gonzalez; Heimdal, Ketil Riddervold; Horn, Denise; Houge, Gunnar; Hufnagel, Sophia B.; Ilencikova, Denisa; Julia, Sophie; Kant, Sarina G.; Kinning, Esther; Klee, Eric W.; Kois, Chelsea; Kovačević, Maja; Lachmeijer, A.M.A. (Guus); Lanpher, Brendan; Lebrun, Marine; Leon, Eyby; Lichty, Angie Ward; Lin, Ruth; Llano-Rivas, Isabel; Lynch, Sally Ann; Maas, Saskia M.; Maitz, Silvia B.; McKee, Shane; Melis, Daniela; Merati, Elisabetta; Merla, Giuseppe; Newbury-Ecob, Ruth; Nizon, Mathilde; Park, Soo-Mi; Patterson, Jennifer; Petit, Florence; Peeters, Hilde; Persani, Luca; Persico, Ivana; Pes, Valentina; Pollazzon, Marzia; Potjer, Thomas; Potocki, Lorraine; Pottinger, Carrie; Prasad, Chitra; Prijoles, Eloise J.; Ragge, Nicola K.; Rake, Jan Peter; van Ravenswaaij-Arts, Conny M.A.; Rea, Gillian; Ruivenkamp, Claudia; Rutz, Audrey; Saitta, Sulagna C.; Russo, Rossana Sanchez; Santen, Gijs W.E.; Schaefer, Elise; Shashi, Vandana; Schultz-Rogers, Laura; Sluga, Andrea; Sotgiu, Stefano; Steichen-Gersdorf, Elisabeth; Sullivan, Jennifer A.; Sun, Yu; Suri, Mohnish; Tartaglia, Marco; Tedder, Matt; Terhal, Paulien; Tully, Ian; Verbeek, Nienke; Wenzel, Maren; White, Susan M.; Xiao, Bing; Haghshenas, Sadegheh ; Bout, Hidde J. ; Schijns, Josephine M. ; Levy, Michael A. ; Kerkhof, Jennifer ; Bhai, Pratibha ; McConkey, Haley ; Jenkins, Zandra A. ; Williams, Ella M. ; Halliday, Benjamin J. ; Huisman, Sylvia A. ; Lauffer, Peter ; de Waard, Vivian ; Witteveen, Laura ; Banka, Siddharth ; Brady, Angela F. ; Hurst, Anna C.E. ; Kaiser, Frank J. ; Lacombe, Didier ; Martinez-Monseny, Antonio F. ; Fergelot, Patricia ; Monteiro, Fabíola P. ; Parenti, Ilaria ; Santos-Simarro, Fernando ; Simpson, Brittany N. ; Alders, Mariëlle ; Robertson, Stephen P. ; Sadikovic, Bekim ; Menke, Leonie A.
In Human Genetics and Genomics Advances 18 July 2024 5(3)
Academic Journal
María del Rocío Pérez Baca; María Palomares Bralo; Michiel Vanhooydonck; Lisa Hamerlinck; Eva D’haene; Sebastian Leimbacher; Eva Z. Jacobs; Laurenz De Cock; Erika D’haenens; Annelies Dheedene; Zoë Malfait; Lies Vantomme; Ananilia Silva; Kathleen Rooney; Fernando Santos-Simarro; Roser Lleuger-Pujol; Sixto García-Miñaúr; Itsaso Losantos-García; Björn Menten; Gaia Gestri; Nicola Ragge; Bekim Sadikovic; Elke Bogaert; Delfien Syx; Bert Callewaert; Sarah Vergult
medRxiv
Academic Journal
Sayaka Kayumi; Luis A. Pérez-Jurado; María Palomares; Sneha Rangu; Sarah E. Sheppard; Wendy K. Chung; Michael C. Kruer; Mira Kharbanda; David J. Amor; George McGillivray; Julie S. Cohen; Sixto García-Miñaúr; Clare L. van Eyk; Kelly Harper; Lachlan A. Jolly; Dani L. Webber; Christopher P. Barnett; Fernando Santos-Simarro; Marta Pacio-Míguez; Angela del Pozo; Somayeh Bakhtiari; Matthew Deardorff; Holly A. Dubbs; Kosuke Izumi; Katheryn Grand; Christopher Gray; Paul R. Mark; Elizabeth J. Bhoj; Dong Li; Xilma R. Ortiz-Gonzalez; Beth Keena; Elaine H. Zackai; Ethan M. Goldberg; Guiomar Perez de Nanclares; Arrate Pereda; Isabel Llano-Rivas; Ignacio Arroyo; María Ángeles Fernández-Cuesta; Christel Thauvin-Robinet; Laurence Faivre; Aurore Garde; Benoit Mazel; Ange-Line Bruel; Michael L. Tress; Eva Brilstra; Amena Smith Fine; Kylie E. Crompton; Alexander P.A. Stegmann; Margje Sinnema; Servi C.J. Stevens; Joost Nicolai; Gaetan Lesca; Laurence Lion-François; Damien Haye; Nicolas Chatron; Amelie Piton; Mathilde Nizon; Benjamin Cogne; Siddharth Srivastava; Jennifer Bassetti; Candace Muss; Karen W. Gripp; Rebecca A. Procopio; Francisca Millan; Michelle M. Morrow; Melissa Assaf; Andres Moreno-De-Luca; Shelagh Joss; Mark J. Hamilton; Marta Bertoli; Nicola Foulds; Shane McKee; Alastair H. MacLennan; Jozef Gecz; Mark A. Corbett
Repositorio Institucional de la Consejería de Sanidad de la Comunidad de Madrid
Consejería de Sanidad de la Comunidad de Madrid
Consejería de Sanidad de la Comunidad de Madrid
Academic Journal
Marta Pacio‐Miguez; Manuel Parrón‐Pajares; Christopher T. Gordon; Fernando Santos‐Simarro; Carmen Rodríguez Jiménez; Rocio Mena; Inmaculada Rueda Arenas; Victoria Eugenia F. Montaño; María Fernández; Mario Solís; Ángela del Pozo; Jeanne Amiel; Sixto García‐Miñaur; María Palomares‐Bralo
American Journal of Medical Genetics Part A. 188:2819-2824
Academic Journal
Yingjie Zhao; Yujue Wang; Lijie Shi; Donna M. McDonald-McGinn; T. Blaine Crowley; Daniel E. McGinn; Oanh T. Tran; Daniella Miller; Jhih-Rong Lin; Elaine Zackai; H. Richard Johnston; Eva W. C. Chow; Jacob A. S. Vorstman; Claudia Vingerhoets; Therese van Amelsvoort; Doron Gothelf; Ann Swillen; Jeroen Breckpot; Joris R. Vermeesch; Stephan Eliez; Maude Schneider; Marianne B. M. van den Bree; Michael J. Owen; Wendy R. Kates; Gabriela M. Repetto; Vandana Shashi; Kelly Schoch; Carrie E. Bearden; M. Cristina Digilio; Marta Unolt; Carolina Putotto; Bruno Marino; Maria Pontillo; Marco Armando; Stefano Vicari; Kathleen Angkustsiri; Linda Campbell; Tiffany Busa; Damian Heine-Suñer; Kieran C. Murphy; Declan Murphy; Sixto García-Miñaúr; Luis Fernández; International 22q11.2 Brain and Behavior Consortium (IBBC); Zhengdong D. Zhang; Elizabeth Goldmuntz; Raquel E. Gur; Beverly S. Emanuel; Deyou Zheng; Christian R. Marshall; Anne S. Bassett; Tao Wang; Bernice E. Morrow
npj Genomic Medicine, Vol 8, Iss 1, Pp 1-15 (2023)
Academic Journal
Elena Martinez-Cayuelas; Fiona Blanco-Kelly; Fermina Lopez-Grondona; Saoud Tahsin Swafiri; Rosario Lopez-Rodriguez; Rebeca Losada-Del Pozo; Ignacio Mahillo-Fernandez; Beatriz Moreno; Maria Rodrigo-Moreno; Didac Casas-Alba; Aitor Lopez-Gonzalez; Sixto García-Miñaúr; Maria Ángeles Mori; Marta Pacio-Minguez; Emi Rikeros-Orozco; Fernando Santos-Simarro; Jaime Cruz-Rojo; Juan Francisco Quesada-Espinosa; Maria Teresa Sanchez-Calvin; Jaime Sanchez-del Pozo; Raquel Bernado Fonz; Maria Isidoro-Garcia; Irene Ruiz-Ayucar; Maria Isabel Alvarez-Mora; Raquel Blanco-Lago; Begoña De Azua; Jesus Eiris; Juan Jose Garcia-Peñas; Belen Gil-Fournier; Carmen Gomez-Lado; Nadia Irazabal; Vanessa Lopez-Gonzalez; Irene Madrigal; Ignacio Malaga; Beatriz Martinez-Menendez; Soraya Ramiro-Leon; Maria Garcia-Hoyos; Pablo Prieto-Matos; Javier Lopez-Pison; Sergio Aguilera-Albesa; Sara Alvarez; Alberto Fernández-Jaén; Isabel Llano-Rivas; Blanca Gener-Querol; Carmen Ayuso; Ana Arteche-Lopez; Maria Palomares-Bralo; Anna Cueto-González; Irene Valenzuela; Antonio Martinez-Monseny; Isabel Lorda-Sanchez; Berta Almoguera
JOURNAL OF MEDICAL GENETICS
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu
ABACUS. Repositorio de Producción Científica
Universidad Europea (UEM)
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu
ABACUS. Repositorio de Producción Científica
Universidad Europea (UEM)
Academic Journal
Sofia Douzgou; Janet Dell’Oro; Cristina Rodriguez Fonseca; Alessandra Rei; Jo Mullins; Isabelle Jusiewicz; Sylvia Huisman; Brittany N. Simpson; Klea Vyshka; Donatella Milani; Oliver Bartsch; Didier Lacombe; Sixto García-Miñaúr; Raoul C. M. Hennekam
Repositorio Institucional de la Consejería de Sanidad de la Comunidad de Madrid
Consejería de Sanidad de la Comunidad de Madrid
Consejería de Sanidad de la Comunidad de Madrid
Academic Journal
Dong Li; Qin Wang; Allan Bayat; Mark R. Battig; Yijing Zhou; Daniëlle G.M. Bosch; Gijs van Haaften; Leslie Granger; Andrea K. Petersen; Luis A. Pérez-Jurado; Gemma Aznar-Laín; Anushree Aneja; Miroslava Hancarova; Sarka Bendova; Martin Schwarz; Radka Kremlikova Pourova; Zdenek Sedlacek; Beth A. Keena; Michael E. March; Cuiping Hou; Nora O’Connor; Elizabeth J. Bhoj; Margaret H. Harr; Gabrielle Lemire; Kym M. Boycott; Meghan Towne; Megan Li; Mark Tarnopolsky; Lauren Brady; Michael J. Parker; Hanna Faghfoury; Lea Kristin Parsley; Emanuele Agolini; Maria Lisa Dentici; Antonio Novelli; Meredith Wright; Rachel Palmquist; Khanh Lai; Marcello Scala; Pasquale Striano; Michele Iacomino; Federico Zara; Annina Cooper; Timothy J. Maarup; Melissa Byler; Robert Roger Lebel; Tugce B. Balci; Raymond Louie; Michael Lyons; Jessica Douglas; Catherine Nowak; Alexandra Afenjar; Juliane Hoyer; Boris Keren; Saskia M. Maas; Mahdi M. Motazacker; Julian A. Martinez-Agosto; Ahna M. Rabani; Elizabeth M. McCormick; Marni J. Falk; Sarah M. Ruggiero; Ingo Helbig; Rikke S. Møller; Lino Tessarollo; Francesco Tomassoni Ardori; Mary Ellen Palko; Tzung-Chien Hsieh; Peter M. Krawitz; Mythily Ganapathi; Bruce D. Gelb; Vaidehi Jobanputra; Ashley Wilson; John Greally; Sébastien Jacquemont; Khadijé Jizi; Ange-Line Bruel; Chloé Quelin; Vinod K. Misra; Erika Chick; Corrado Romano; Donatella Greco; Alessia Arena; Manuela Morleo; Vincenzo Nigro; Rie Seyama; Yuri Uchiyama; Naomichi Matsumoto; Ryoji Taira; Katsuya Tashiro; Yasunari Sakai; Gökhan Yigit; Bernd Wollnik; Michael Wagner; Barbara Kutsche; Anna C.E. Hurst; Michelle L. Thompson; Ryan Schmidt; Linda Randolph; Rebecca C. Spillmann; Vandana Shashi; Edward J. Higginbotham; Dawn Cordeiro; Amanda Carnevale; Gregory Costain; Tayyaba Khan; Benoît Funalot; Frederic Tran Mau-Them; Luis Fernandez Garcia Moya; Sixto García-Miñaúr; Matthew Osmond; Lauren Chad; Nada Quercia; Diana Carrasco; Chumei Li; Amarilis Sanchez-Valle; Meghan Kelley; Mathilde Nizon; Brynjar O. Jensson; Patrick Sulem; Kari Stefansson; Svetlana Gorokhova; Tiffany Busa; Marlène Rio; Hamza Hadj Habdallah; Marion Lesieur-Sebellin; Jeanne Amiel; Véronique Pingault; Sandra Mercier; Marie Vincent; Christophe Philippe; Clemence Fatus-Fauconnier; Kathryn Friend; Rebecca K. Halligan; Sunita Biswas; Jane Rosser; Cheryl Shoubridge; Mark Corbett; Christopher Barnett; Jozef Gecz; Kathleen Leppig; Anne Slavotinek; Carlo Marcelis; Rolph Pfundt; Bert B.A. de Vries; Marjon A. van Slegtenhorst; Alice S. Brooks; Benjamin Cogne; Thomas Rambaud; Zeynep Tümer; Elaine H. Zackai; Naiara Akizu; Yuanquan Song; Hakon Hakonarson
J Clin Invest
Population and Environment, 134, 1
Li, D, Wang, Q, Bayat, A, Battig, M R, Zhou, Y, Bosch, D G M, van Haaften, G, Granger, L, Petersen, A K, Pérez-Jurado, L A, Aznar-Laín, G, Aneja, A, Hancarova, M, Bendova, S, Schwarz, M, Pourova, R K, Sedlacek, Z, Keena, B A, March, M E, Hou, C, O’Connor, N, Bhoj, E J, Harr, M H, Lemire, G, Boycott, K M, Towne, M, Li, M, Tarnopolsky, M, Brady, L, Parker, M J, Faghfoury, H, Parsley, L K, Agolini, E, Dentici, M L, Novelli, A, Wright, M, Palmquist, R, Lai, K, Scala, M, Striano, P, Iacomino, M, Zara, F, Cooper, A, Maarup, T J, Byler, M, Lebel, R R, Balci, T B, Louie, R, Lyons, M, Douglas, J, Nowak, C, Afenjar, A, Hoyer, J, Keren, B, Maas, S M, Motazacker, M M, Martinez-Agosto, J A, Rabani, A M, McCormick, E M, Falk, M J, Ruggiero, S M, Helbig, I, Møller, R S, Tessarollo, L, Ardori, F T, Palko, M E, Hsieh, T C, Krawitz, P M, Ganapathi, M, Gelb, B D, Jobanputra, V, Wilson, A, Greally, J, Jacquemont, S, Jizi, K, Bruel, A L, Quelin, C, Misra, V K, Chick, E, Romano, C, Greco, D, Arena, A, Morleo, M, Nigro, V, Seyama, R, Uchiyama, Y, Matsumoto, N, Taira, R, Tashiro, K, Sakai, Y, Yigit, G, Wollnik, B, Wagner, M, Kutsche, B, Hurst, A C E, Thompson, M L, Schmidt, R, Randolph, L, Spillmann, R C, Shashi, V, Higginbotham, E J, Cordeiro, D, Carnevale, A, Costain, G, Khan, T, Funalot, B, Mau-Them, F T,Garcia Moya, L F, García -Miñaúr , S, Osmond, M, Chad, L, Quercia, N, Carrasco, D, Li, C, Sanchez-Valle, A, Kelley, M, Nizon, M, Jensson, B O, Sulem, P, Stefansson, K, Gorokhova, S, Busa, T, Rio, M, Habdallah, H H, Lesieur-Sebellin, M, Amiel, J, Pingault, V, Mercier, S, Vincent, M, Philippe, C, Fatus-Fauconnier, C, Friend, K, Halligan, R K, Biswas, S, Rosser, J, Shoubridge, C, Corbett, M, Barnett, C, Gecz, J, Leppig, K, Slavotinek, A, Marcelis, C, Pfundt, R, de Vries, B B A, van Slegtenhorst, M A, Brooks, A S, Cogne, B, Rambaud, T, Tümer, Z, Zackai, E H, Akizu, N, Song, Y & Hakonarson, H 2024, ' Spliceosome malfunction causes neurodevelopmental disorders with overlapping features ', Journal of Clinical Investigation, vol. 134, no. 1, e171235 . https://doi.org/10.1172/JCI171235
Population and Environment, 134, 1
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Freud, Lindsay R.; Galloway, Stephanie; Crowley, T. Blaine; Moldenhauer, Julie; Swillen, Ann; Breckpot, Jeroen; Borrell, Antoni; Vora, Neeta L.; Cuneo, Bettina; Hoffman, Hilary; Gilbert, Lisa; Nowakowska, Beata; Geremek, Maciej; Kutkowska-Kaźmierczak, Anna; Vermeesch, Joris R.; Devriendt, Koen; Busa, Tiffany; Sigaudy, Sabine; Vigneswaran, Trisha; Simpson, John M.; Dungan, Jeffrey; Gotteiner, Nina; Gloning, Karl Philipp; Digilio, Maria Cristina; Unolt, Marta; Putotto, Carolina; Marino, Bruno; Repetto, Gabriela; Fadic, Magdalena; Garcia-Minaur, Sixto; Achón Buil, Ana; Thomas, Mary Ann; Fruitman, Deborah; Beecroft, Taylor; Hui, Pui Wah; Oskarsdottir, Solveig, 1953; Bradshaw, Rachael; Criebaum, Amanda; Norton, Mary E.; Lee, Tiffany; Geiger, Miwa; Dunnington, Leslie; Isaac, Jacqueline; Wilkins-Haug, Louise; Hunter, Lindsey; Izzi, Claudia; Toscano, Marika; Ghi, Tullio; McGlynn, Julie; Romana Grati, Francesca; Emanuel, Beverly S.; Gaiser, Kimberly; Gaynor, J. William; Goldmuntz, Elizabeth; McGinn, Daniel E.; Schindewolf, Erica; Tran, Oanh; Zackai, Elaine H.; Yan, Qi; Bassett, Anne S.; Wapner, Ronald; McDonald-McGinn, Donna M.
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Gregor, Anne; Meerbrei, Tanja; Gerstner, Thorsten; Toutain, Annick; Lynch, Sally Ann; Stals, Karen; Maxton, Caroline; Lemke, Johannes R; Bernat, John A; Bombei, Hannah M; Foulds, Nicola; Hunt, David; Kuechler, Alma; Beygo, Jasmin; Stöbe, Petra; Bouman, Arjan; Palomares-Bralo, Maria; Santos-Simarro, Fernando;Garcia -Minaur , Sixto ; Pacio-Miguez, Marta; ... (2022). De novo missense variants in FBXO11 alter its protein expression and subcellular localization. Human molecular genetics, 31(3), pp. 440-454. Oxford University Press 10.1093/hmg/ddab265
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