학술논문
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'학술논문'
에서 검색결과 348건 | 목록
1~20
Academic Journal
Salinas Chaparro, Diana; Muñoz Cabello, Patricia; Escribano Serrano, Gema; Torres López, Maite; Tizzano, Eduardo F.; Martinez-Monseny, Antonio F.; Santos-Simarro, Fernando
Anales de Pediatría (English Edition). 103(6)
Academic Journal
Sarah M. Brooker; Maria Novelli; Robert Coukos; Neha Prakash; Walaa A. Kamel; Marta Amengual‐Gual; Mathieu Anheim; Giulia Barcia; Tanya Bardakjian; Franciska Baur; Steffen Berweck; Bigna K. Bölsterli; Melanie Brugger; Thomas Cassini; Nicolas Chatron; Brian Corner; Hormos Salimi Dafsari; Jean‐Madeleine de Sainte Agathe; Colin A. Ellis; Kimberly M. Ezell; Cendrine Foucard; Steven J. Frucht; Maria C. Garcia; Deepak Gill; Anne Guimier; Rizwan Hamid; Damià Heine‐Suñer; Peter Herkenrath; Marie Hully; Ioannis U. Isaias; Louis Januel; Chloe Laurencin; Taylor Laut; Alinoe Lavillaureix; Gaetan Lesca; Marion Lesieur‐Sebellin; Luca Magistrelli; Cecilia Marelli; Heather C. Mefford; Bryce A. Mendelsohn; Saadet Mercimek‐Andrews; Claire Miller; Shekeeb S. Mohammad; Francesca Morgante; Sirisha Nandipati; Thomas Opladen; Mahesh Padmanaban; Micaela Pauni; Gianni Pezzoli; Amelie Piton; Francis Ramond; Giulietta M. Riboldi; Christelle Rougeot‐Jung; Fernando Santos‐Simarro; Ingrid E. Scheffer; Naoual Serari; Christine M. Stahl; Ann Stembridge Kung; Susana Tarongí Sanchez; Christel Thauvin‐Robinet; Marianne Till; Christine Tranchant; Christopher Troedson; Thomas F. Tropea; Olivier Vanakker; Patricia Vega; Maxi Leona Wiese; Udo Wieshmann; Laura J. Williams; Thomas Wirth; Michael Zech; Hans Zempel; Emmanuel Roze; Vincenzo Leuzzi; Serena Galosi; Victor S. C. Fung; Gemma Carvill; Dimitri Krainc; Elizabeth Gerard; Niccolò E. Mencacci
Ann Neurol
Academic Journal
Marta Sevilla-Porras; Esther Nieto-Molina; Zahara Medina; Alejandra Damián; Juan R. Tejedor; Carlos Ruiz-Arenas; Mario Cazalla; Rosario Carmona; Jorge Amigo; Ibai Goicoechea; Raúl Tonda; Gemma Bullich; Sergi Beltran; Noemí Toro-Barrios; Virginia Aquino; Emma Soengas-Gonda; Cinta Navarro-Moreno; Marcela Mena; June Corcuera; Verónica Martos-Gago; Míriam Álvarez-Barona; María Barreda-Sánchez; Cristina Silván; Jair Tenorio-Castaño; Carolina Alves; María I. Álvarez-Mora; Laia Rodríguez-Revenga; Irene Madrigal; María J. Ballesta-Martinez; Vanesa López-González; Belén Pérez; Montserrat Morales-Conejo; Irene Valenzuela; Marta Codina-Solà; Marta Alemany-Albert; Virginia Ballesteros-Cogollos; Raquel Rodríguez-López; Berta Almoguera; Isabel Lorda-Sánchez; Irene Lázaro-Rodríguez; Miguel A. Martín; Lidia Fernández-Caballero; Helena Gil-Peña; Noelia García-González; Marta Agúndez-Sarasola; Judith Armstrong; Loreto Martorell; Dídac Casas-Alba; Carmen Fons; Roser Urreizti; Antonio F. Martínez-Monseny; Leticia Pías-Peleteiro; Francisco Palau; Lexuri Gerrikabeitia; Nelmar V. Ortiz-Cabrera; Anna Duat-Rodríguez; Bárbara Fernández-Garoz; Laura López-Marín; Beatriz Bernardino-Cuesta; Elena Anton-Martin; María J. González-Gómez; Elena González-Alguacil; Carmen Gómez Lado; David Dacruz-Álvarez; Beatriz Sobrino; Víctor Martínez-Glez; Anna Ruiz; Carmen Manso-Bazús; Nino Spataro; Neus Baena; Juan Pablo Trujillo-Quintero; Nuria Capdevila; Anna Brunet-Vega; Eugenio Zapata-Aldana; Verónica A. Seidel; Raquel Yahyaoui; Ignacio Blanco; Elisabeth Castellanos; Montse Pauta; María del Mar Rovira; Barbara Masotto; Agustí Rodríguez-Palmero; Aurora Pujol; Agatha Schlüter; María Palomares-Bralo; María Á. Gómez-Cano; María Nieves-Moreno; Emi Rikeros-Orozco; Antonio Poyatos-Andujar; Inmaculada Medina-Martínez; Fernando Santos-Simarro; Damià Heine-Suñer; Susana R. Avella-Klaassen; Ángeles Perez-Granero; María Antonia Grimalt; Ignacio Arroyo-Carrera; Andrea Sariego-Jamardo; Ana I. Vega; José L. Fernández-Luna; Mireia Del Toro; Flora Sánchez-Jiménez; Juan M. Borreguero-León; Andrea Campo-Barasoain; Joaquín Dopazo; Mario F. Fraga; Feliciano Ramos; Jordi Rosell; Enrique Galán-Gomez; Salud Borrego; Luis Castaño; Francisco Barros; José M. Millán; Gemma Aznar-Laín; Encarna Guillén-Navarro; Carmen Ayuso; Ángel Carracedo; Pablo Lapunzina; Beatriz Morte; Luis A. Pérez-Jurado
Academic Journal
Laura Trujillano; Irene Valenzuela; Mar Costa‐Roger; Ivon Cuscó; Paula Fernandez‐Alvarez; Anna Cueto‐González; Amaia Lasa‐Aranzasti; Bárbara Masotto; Anna Abulí; Marta Codina‐Solà; Miguel del Campo; Juan Antonio Ruiz Moreno; Cristina Pardo Domínguez; Carmen Palma Milla; Rubén Pérez de la Fuente; Juan Francisco Quesada‐Espinosa; Noemí Núñez‐Enamorado; Blanca Gener; María Juliana Ballesta‐Martínez; Alejandro J. Brea‐Fernández; Montse Fernández‐Prieto; Juan Pablo Trujillo‐Quintero; Anna Ruiz; Fernando Santos‐Simarro; Mónica Rosello; Carmen Orellana; Francisco Martinez; Antonio F. Martinez‐Monseny; Dídac Casas‐Alba; Mercedes Serrano; María Palomares‐Bralo; Emi Rikeros‐Orozco; María Ángeles Gómez‐Cano; Pilar Tirado‐Requero; Juan Pié Juste; Feliciano J. Ramos; Elena García‐Arumí; Eduardo F. Tizzano
CLINICAL GENETICS
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
Instituto de Investigación Sanitaria La Fe (IIS La Fe)
Zaguán. Repositorio Digital de la Universidad de Zaragoza
Universidad de Zaragoza
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
Instituto de Investigación Sanitaria La Fe (IIS La Fe)
Zaguán. Repositorio Digital de la Universidad de Zaragoza
Universidad de Zaragoza
Academic Journal
Palma-Milla, Carmen, PhD; Prat-Planas, Aina, MSc; Soengas-Gonda, Emma, MSc; Centeno-Pla, Mónica, MSc; Sánchez-Pozo, Jaime, MD; Lazaro-Rodriguez, Irene, MD; Quesada-Espinosa, Juan F., MSc; Arteche-Lopez, Ana, PhD; Olival, Jonathan, PhD; Pacio-Miguez, Marta, MSc; Palomares-Bralo, María, PhD; Santos-Simarro, Fernando, MD, PhD; Cancho-Candela, Ramón, MD, PhD; Vázquez-López, María, MD, PhD; Seidel, Veronica, MD, MSc; Martinez-Monseny, Antonio F., MD, PhD; Casas-Alba, Didac, MD, PhD; Grinberg, Daniel, PhD; Balcells, Susanna, PhD; Serrano, Mercedes, MD, PhD; Rabionet, Raquel, PhD; Martin, Miguel A., PhD; Urreizti, Roser, PhD
Pediatric Neurology. 155:8-17
Academic Journal
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.; Galazzi, Elena; van Gils, Julien; Hurst, Anna C.E.; Kaiser, Frank J.; Lacombe, Didier; Martinez-Monseny, Antonio F.; Fergelot, Patricia; Monteiro, Fabíola P.; Parenti, Ilaria; Persani, Luca; Santos-Simarro, Fernando; Simpson, Brittany N.; Alders, Mariëlle; Robertson, Stephen P.; Sadikovic, Bekim; Menke, Leonie A.
Human Genetics and Genomics Advances. 5(4)
Academic Journal
Charbel, Ramy; Marais, Clémence; Baudin, Florent; Cour-Andlauer, Fleur; Joram, Nicolas; Jegard, Julien; Levy, Michael; Naudin, Jerome; Fernandes, Maxence; Roignot, Ombeline; Beaudet, Joelle; De Sampaio, Sandrine; Soreze, Yohan; Meyer, Philippe; Moreau, Francois; Llorente de la Fuente, Ana Maria; Ordóñez Sáez, Olga; Ahern, Hugo; Ferreras, Rubén; Román-Hernández, Carmen; Santos-Simarro, Guillermo; Rodríguez Sánchez, Rosa Maria; Mérida Ales, Elisa; Sánchez Valederrábanos, Elia; Fernández Elías, Manuel; Cieza, Raquel; Corchado, Alba; Unzueta-Roch, José Luis; Yun Castilla, Cristina; Montero Yéboles, Raúl; Díaz Rueda, Laura; Girona-Alarcon, Mónica; Bobillo-Pérez, Sara; Ulrichs, Christoph; Ströhlein, Mona; Proquitté, Hans; Höhn, René; Zürn, Christoph; Wolf, Monika; Patil, Anand; Ramnarayan, Padmanabhan; Miatello, Jordi ; Palacios-Cuesta, Alba ; Radell, Peter ; Oberthuer, André ; Playfor, Stephen ; Amores-Hernández, Irene ; Barreault, Simon ; Biedermann, Richard ; Charlo Molina, Maria Teresa ; Encarnación Martínez, Juan ; Kuehne, Benjamin ; Mencía, Santiago ; Méndez, Maria Dolores ; Menzel, Christoph ; Morin, Luc ; Oviedo, Lidia ; Piloquet, Jean-Eudes ; Falkenhav, Magnus ; Sackey, Peter ; Trieschmann, Uwe ; Tissieres, Pierre
In The Lancet Respiratory Medicine October 2025 13(10):897-910
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
In Anales de Pediatría (English Edition) November 2025 103(5)
Academic Journal
Chaparro, Diana Salinas; Cabello, Patricia Munoz; Serrano, Gema Escribano; Lopez, Maite Torres; Tizzano, Eduardo F.; Martinez-Monseny, Antonio F.; Santos-Simarro, Fernando
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
In Anales de Pediatria June 2025
Academic Journal
Natalia Arruti; Patricia Rodríguez-Solana; María Nieves-Moreno; Marta Guerrero-Carretero; Ángela del Pozo; Victoria E. F. Montaño; Fernando Santos-Simarro; Emi Rikeros-Orozco; Luna Delgado-Mora; Elena Vallespín; Susana Noval
Current Issues in Molecular Biology, Vol 45, Iss 1, Pp 465-478 (2023)
Academic Journal
Francisca Diaz-Gonzalez; Javier M. Sacedo-Gutiérrez; Stephen R. F. Twigg; Eduardo Calpena; Fernando E. Carceller-Benito; Manuel Parrón-Pajares; Fernando Santos-Simarro; Karen E. Heath
Frontiers in Genetics, Vol 13 (2023)
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
Antonio Leiva Gea; María F. Martos Lirio; Ana Coral Barreda Bonis; Silvia Marín del Barrio; Karen E. Heath; Purificacion Marín Reina; Encarna Guillén Navarro; Fernando Santos Simarro; Isolina Riaño Galán; Diego Yeste Fernández; Isabel Leiva-Gea
Anales de Pediatría, Vol 97, Iss 6, Pp 423-423.e10 (2022)
Academic Journal
Anne Gregor; Tanja Meerbrei; Thorsten Gerstner; Annick Toutain; Sally Ann Lynch; Karen Stals; Caroline Maxton; Johannes R Lemke; John A Bernat; Hannah M Bombei; Nicola Foulds; David Hunt; Alma Kuechler; Jasmin Beygo; Petra Stöbe; Arjan Bouman; Maria Palomares-Bralo; Fernando Santos-Simarro; Sixto Garcia-Minaur; Marta Pacio-Miguez; Bernt Popp; Georgia Vasileiou; Moritz Hebebrand; André Reis; Sarah Schuhmann; Mandy Krumbiegel; Natasha J Brown; Peter Sparber; Lyusya Melikyan; Liudmila Bessonova; Tatiana Cherevatova; Artem Sharkov; Natalia Shcherbakova; Tabib Dabir; Usha Kini; Eva M C Schwaibold; Tobias B Haack; Marta Bertoli; Sabine Hoffjan; Ruth Falb; Marwan Shinawi; Heinrich Sticht; Christiane Zweier
Hum Mol Genet
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
Human Molecular Genetics
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;
Human Molecular Genetics
Academic Journal
Palma-Milla, Carmen; Prat-Planas, Aina; Soengas-Gonda, Emma; Centeno-Pla, Mónica; Sánchez-Pozo, Jaime; Lazaro-Rodriguez, Irene; Quesada-Espinosa, Juan F.; Arteche-Lopez, Ana; Olival, Jonathan; Pacio-Miguez, Marta; Palomares-Bralo, María; Santos-Simarro, Fernando; Cancho-Candela, Ramón; Vázquez-López, María; Seidel, Veronica; Martinez-Monseny, Antonio F.; Casas-Alba, Didac; Grinberg Vaisman, Daniel Raúl; Balcells Comas, Susana; Serrano, Mercedes; Rabionet Janssen, Raquel; Martin, Miguel A.; Urreizti, Roser
Articles publicats en revistes (Genètica, Microbiologia i Estadística)
Dipòsit Digital de la UB
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Dipòsit Digital de la UB
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Academic Journal
Carmen Palma-Milla; Aina Prat-Planas; Emma Soengas-Gonda; Mónica Centeno-Pla; Jaime Sánchez-Pozo; Irene Lazaro-Rodriguez; Juan F. Quesada-Espinosa; Ana Arteche-Lopez; Jonathan Olival; Marta Pacio-Miguez; María Palomares-Bralo; Fernando Santos-Simarro; Ramón Cancho-Candela; María Vázquez-López; Veronica Seidel; Antonio F Martinez-Monseny; Didac Casas-Alba; Daniel Grinberg; Susanna Balcells; Mercedes Serrano; Raquel Rabionet; Miguel A. Martin; Roser Urreizti
Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations
Academic Journal
Lance H. Rodan; Rebecca C. Spillmann; Harley T. Kurata; Shawn M. Lamothe; Jasmine Maghera; Rami Abou Jamra; Anna Alkelai; Stylianos E. Antonarakis; Isis Atallah; Omer Bar-Yosef; Frédéric Bilan; Kathrine Bjorgo; Xavier Blanc; Patrick Van Bogaert; Yoav Bolkier; Lindsay C. Burrage; Björn U. Christ; Jorge L. Granadillo; Patricia Dickson; Kirsten A. Donald; Christèle Dubourg; Aviva Eliyahu; Lisa Emrick; Kendra Engleman; Michaela Veronika Gonfiantini; Jean-Marc Good; Judith Kalser; Chiara Kloeckner; Guus Lachmeijer; Marina Macchiaiolo; Francesco Nicita; Sylvie Odent; Emily O’Heir; Xilma Ortiz-Gonzalez; Marta Pacio-Miguez; María Palomares-Bralo; Loren Pena; Konrad Platzer; Mathieu Quinodoz; Emmanuelle Ranza; Jill A. Rosenfeld; Eliane Roulet-Perez; Avni Santani; Fernando Santos-Simarro; Ben Pode-Shakked; Cara Skraban; Rachel Slaugh; Andrea Superti-Furga; Isabelle Thiffault; Richard H. van Jaabrsveld; Marie Vincent; Hong-Gang Wang; Pia Zacher; Mercedes E. Alejandro; Mahshid S. Azamian; Carlos A. Bacino; Ashok Balasubramanyam; Hsiao-Tuan Chao; Gary D. Clark; William J. Craigen; Hongzheng Dai; Shweta U. Dhar; Lisa T. Emrick; Alica M. Goldman; Neil A. Hanchard; Fariha Jamal; Lefkothea Karaviti; Seema R. Lalani; Brendan H. Lee; Richard A. Lewis; Ronit Marom; Paolo M. Moretti; David R. Murdock; Sarah K. Nicholas; James P. Orengo; Jennifer E. Posey; Lorraine Potocki; Susan L. Samson; Daryl A. Scott; Alyssa A. Tran; Tiphanie P. Vogel; Michael F. Wangler; Shinya Yamamoto; Christine M. Eng; Pengfei Liu; Patricia A. Ward; Edward Behrens; Matthew Deardorff; Marni Falk; Kelly Hassey; Kathleen Sullivan; Adeline Vanderver; David B. Goldstein; Heidi Cope; Allyn McConkie-Rosell; Kelly Schoch; Vandana Shashi; Edward C. Smith; Jennifer A. Sullivan; Queenie K.-G. Tan; Nicole M. Walley; Pankaj B. Agrawal; Alan H. Beggs; Gerard T. Berry; Lauren C. Briere; Laurel A. Cobban; Matthew Coggins; Cynthia M. Cooper; Elizabeth L. Fieg; Frances High; Ingrid A. Holm; Susan Korrick; Joel B. Krier; Sharyn A. Lincoln; Joseph Loscalzo; Richard L. Maas; Calum A. MacRae; J. Carl Pallais; Deepak A. Rao; Edwin K. Silverman; Joan M. Stoler; David A. Sweetser; Melissa Walker; Chris A. Walsh; Cecilia Esteves; Emily G. Kelley; Isaac S. Kohane; Kimberly LeBlanc; Alexa T. McCray; Anna Nagy; Surendra Dasari; Brendan C. Lanpher; Ian R. Lanza; Eva Morava; Devin Oglesbee; Guney Bademci; Deborah Barbouth; Stephanie Bivona; Olveen Carrasquillo; Ta Chen Peter Chang; Irman Forghani; Alana Grajewski; Rosario Isasi; Byron Lam; Roy Levitt; Xue Zhong Liu; Jacob McCauley; Ralph Sacco; Mario Saporta; Judy Schaechter; Mustafa Tekin; Fred Telischi; Willa Thorson; Stephan Zuchner; Heather A. Colley; Jyoti G. Dayal; David J. Eckstein; Laurie C. Findley; Donna M. Krasnewich; Laura A. Mamounas; Teri A. Manolio; John J. Mulvihill; Grace L. LaMoure; Madison P. Goldrich; Tiina K. Urv; Argenia L. Doss; Maria T. Acosta; Carsten Bonnenmann; Precilla D’Souza; David D. Draper; Carlos Ferreira; Rena A. Godfrey; Catherine A. Groden; Ellen F. Macnamara; Valerie V. Maduro; Thomas C. Markello; Avi Nath; Donna Novacic; Barbara N. Pusey; Camilo Toro; Colleen E. Wahl; Eva Baker; Elizabeth A. Burke; David R. Adams; William A. Gahl; May Christine V. Malicdan; Cynthia J. Tifft; Lynne A. Wolfe; John Yang; Bradley Power; Bernadette Gochuico; Laryssa Huryn; Lea Latham; Joie Davis; Deborah Mosbrook-Davis; Francis Rossignol; null Ben Solomon; John MacDowall; Audrey Thurm; Wadih Zein; Muhammad Yousef; Margaret Adam; Laura Amendola; Michael Bamshad; Anita Beck; Jimmy Bennett; Beverly Berg-Rood; Elizabeth Blue; Brenna Boyd; Peter Byers; Sirisak Chanprasert; Michael Cunningham; Katrina Dipple; Daniel Doherty; Dawn Earl; Ian Glass; Katie Golden-Grant; Sihoun Hahn; Anne Hing; Fuki M. Hisama; Martha Horike-Pyne; Gail P. Jarvik; Jeffrey Jarvik; Suman Jayadev; Christina Lam; Kenneth Maravilla; Heather Mefford; J. Lawrence Merritt; Ghayda Mirzaa; Deborah Nickerson; Wendy Raskind; Natalie Rosenwasser; C. Ron Scott; Angela Sun; Virginia Sybert; Stephanie Wallace; Mark Wener; Tara Wenger; Euan A. Ashley; Gill Bejerano; Jonathan A. Bernstein; Devon Bonner; Terra R. Coakley; Liliana Fernandez; Paul G. Fisher; Laure Fresard; Jason Hom; Yong Huang; Jennefer N. Kohler; Elijah Kravets; Marta M. Majcherska; Beth A. Martin; Shruti Marwaha; Colleen E. McCormack; Archana N. Raja; Chloe M. Reuter; Maura Ruzhnikov; Jacinda B. Sampson; Kevin S. Smith; Shirley Sutton; Holly K. Tabor; Brianna M. Tucker; Matthew T. Wheeler; Diane B. Zastrow; Chunli Zhao; William E. Byrd; Andrew B. Crouse; Matthew Might; Mariko Nakano-Okuno; Jordan Whitlock; Gabrielle Brown; Manish J. Butte; Esteban C. Dell’Angelica; Naghmeh Dorrani; Emilie D. Douine; Brent L. Fogel; Irma Gutierrez; Alden Huang; Deborah Krakow; Hane Lee; Sandra K. Loo; Bryan C. Mak; Martin G. Martin; Julian A. Martínez-Agosto; Elisabeth McGee; Stanley F. Nelson; Shirley Nieves-Rodriguez; Christina G.S. Palmer; Jeanette C. Papp; Neil H. Parker; Genecee Renteria; Rebecca H. Signer; Janet S. Sinsheimer; Jijun Wan; Lee-kai Wang; Katherine Wesseling Perry; Jeremy D. Woods; Justin Alvey; Ashley Andrews; Jim Bale; John Bohnsack; Lorenzo Botto; John Carey; Laura Pace; Nicola Longo; Gabor Marth; Paolo Moretti; Aaron Quinlan; Matt Velinder; Dave Viskochil; Pinar Bayrak-Toydemir; Rong Mao; Monte Westerfield; Anna Bican; Elly Brokamp; Laura Duncan; Rizwan Hamid; Jennifer Kennedy; Mary Kozuira; John H. Newman; John A. PhillipsIII; Lynette Rives; Amy K. Robertson; Emily Solem; Joy D. Cogan; F. Sessions Cole; Nichole Hayes; Dana Kiley; Kathy Sisco; Jennifer Wambach; Daniel Wegner; Dustin Baldridge; Stephen Pak; Timothy Schedl; Jimann Shin; Lilianna Solnica-Krezel; Eric Rush; Geoffrey S. Pitt; Ping Yee Billie Au
Genetics in Medicine. 23:1922-1932
Academic Journal
Rots, D.; Chater-Diehl, E.; Dingemans, A.J.M.; Goodman, S.J.; Siu, M.T.; Cytrynbaum, C.; Choufani, S.; Hoang, N.; Walker, S.; Awamleh, Z.; Charkow, J.; Meyn, S.; Pfundt, R.; Rinne, T.; Gardeitchik, T.; Vries, B.B.A. de; Deden, A.C.; Leenders, E.; Kwint, M.; Stumpel, C.T.R.M.; Stevens, S.J.C.; Vermeulen, J.R.; Harssel, J.V.T. van; Bosch, D.G.M.; Gassen, K.L.I. van; Binsbergen, E. van; Geus, C.M. de; Brackel, H.; Hempel, M.; Lessel, D.; Denecke, J.; Slavotinek, A.; Strober, J.; Crunk, A.; Folk, L.; Wentzensen, I.M.; Yang, H.; Zou, F.G.; Millan, F.; Person, R.; Xie, Y.L.; Liu, S.X.; Ousager, L.B.; Larsen, M.; Schultz-Rogers, L.; Morava, E.; Klee, E.W.; Berry, I.R.; Campbell, J.; Lindstrom, K.; Pruniski, B.; Neumeyer, A.M.; Radley, J.A.; Phornphutkul, C.; Schmidt, B.; Wilson, W.G.; Ounap, K.; Reinson, K.; Pajusalu, S.; Haeringen, A. van; Ruivenkamp, C.; Cuperus, R.; Santos-Simarro, F.; Palomares-Bralo, M.; Pacio-Miguez, M.; Ritter, A.; Bhoj, E.; Tonne, E.; Tveten, K.; Cappuccio, G.; Brunetti-Pierri, N.; Rowe, L.; Bunn, J.; Saenz, M.; Platzer, K.; Mertens, M.; Caluseriu, O.; Nowaczyk, M.J.M.; Cohn, R.D.; Kannu, P.; Alkhunaizi, E.; Chitayat, D.; Scherer, S.W.; Brunner, H.G.; Vissers, L.E.L.M.; Kleefstra, T.; Koolen, D.A.; Weksberg, R.
Am J Hum Genet
Repositorio Institucional de la Consejería de Sanidad de la Comunidad de Madrid
Consejería de Sanidad de la Comunidad de Madrid
American Journal of Human Genetics, 108, 6, pp. 1053-1068
Rots, D, Chater-Diehl, E, Dingemans, A J M, Goodman, S J, Siu, M T, Cytrynbaum, C, Choufani, S, Hoang, N, Walker, S, Awamleh, Z, Charkow, J, Meyn, S, Pfundt, R, Rinne, T, Gardeitchik, T, de Vries, B B A, Deden, A C, Leenders, E, Kwint, M, Stumpel, C T R M, Stevens, S J C, Vermeulen, J R, van Harssel, J V T, Bosch, D G M, van Gassen, K L I, van Binsbergen, E, de Geus, C M, Brackel, H, Hempel, M, Lessel, D, Denecke, J, Slavotinek, A, Strober, J, Crunk, A, Folk, L, Wentzensen, I M, Yang, H, Zou,F , Millan, F , Person, R, Xie, Y, Liu, S, Ousager, L B, Larsen, M, Schultz-Rogers, L, Morava, E, Klee, E W, Berry, I R, Campbell, J, Lindstrom, K, Pruniski, B, Radley, J A, Phornphutkul, C, Schmidt, B, Wilson, W G, Õunap, K, Reinson, K, Pajusalu, S, van Haeringen, A, Ruivenkamp, C, Cuperus, R, Santos -Simarro , F , Palomares-Bralo, M, Pacio-Míguez, M, Ritter, A, Bhoj, E, Tønne, E, Tveten, K, Cappuccio, G, Brunetti-Pierri, N, Rowe, L, Bunn, J, Saenz, M, Platzer, K, Mertens, M, Caluseriu, O, Nowaczyk, M J M, Cohn, R D, Kannu, P, Alkhunaizi, E, Chitayat, D, Scherer, S W, Brunner, H G, Vissers, L E L M, Kleefstra, T, Koolen, D A & Weksberg, R 2021, ' Truncating SRCAP variants outside the Floating-Harbor syndrome locus cause a distinct neurodevelopmental disorder with a specific DNA methylation signature ', American Journal of Human Genetics, vol. 108, no. 6, pp. 1053-1068 . https://doi.org/10.1016/j.ajhg.2021.04.008
American Journal of Human Genetics, vol 108, iss 6
American Journal of Human Genetics
Repositorio Institucional de la Consejería de Sanidad de la Comunidad de Madrid
Consejería de Sanidad de la Comunidad de Madrid
American Journal of Human Genetics, 108, 6, pp. 1053-1068
Rots, D, Chater-Diehl, E, Dingemans, A J M, Goodman, S J, Siu, M T, Cytrynbaum, C, Choufani, S, Hoang, N, Walker, S, Awamleh, Z, Charkow, J, Meyn, S, Pfundt, R, Rinne, T, Gardeitchik, T, de Vries, B B A, Deden, A C, Leenders, E, Kwint, M, Stumpel, C T R M, Stevens, S J C, Vermeulen, J R, van Harssel, J V T, Bosch, D G M, van Gassen, K L I, van Binsbergen, E, de Geus, C M, Brackel, H, Hempel, M, Lessel, D, Denecke, J, Slavotinek, A, Strober, J, Crunk, A, Folk, L, Wentzensen, I M, Yang, H, Zou,
American Journal of Human Genetics, vol 108, iss 6
American Journal of Human Genetics
Academic Journal
Leiva-Gea, Antonio; Martos Lirio, María F.; Barreda Bonis, Ana Coral; Marín del Barrio, Silvia; Heath, Karen E.; Marín Reina, Purificacion; Guillén-Navarro, Encarna; Santos Simarro, Fernando; Riaño Galán, Isolina; Yeste Fernández, Diego; Leiva-Gea, Isabel
Anales de Pediatría (English Edition). 97(6):423-423
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