부산대학교 도서관

Canavati C; Department of Developmental Biology and Cancer Research, Institute of Medical Research - Israel-Canada, The Hebrew University of Jerusalem, Jerusalem, 9112102, Israel; Hereditary Research Laboratory, Bethlehem University, Bethlehem, Palestine.; Oppebøen M; Division of Pediatrics and Adolescent Medicine, Oslo University Hospital, 0450 Oslo and Faculty of Medicine, University of Oslo, Oslo, Norway.; Verma R; Department of Developmental Biology and Cancer Research, Institute of Medical Research - Israel-Canada, The Hebrew University of Jerusalem, Jerusalem, 9112102, Israel.; Misceo D; Department of Medical Genetics, Oslo University Hospital and University of Oslo, 0450 Oslo, Norway.; Frengen E; Department of Medical Genetics, Oslo University Hospital and University of Oslo, 0450 Oslo, Norway.; Salvador CL; Department of Medical Biochemistry, Oslo University Hospital, Oslo, Norway.; Martínez-Gil N; Department of Clinical and Molecular Genetics, Vall d'Hebron Barcelona Hospital Campus, Barcelona, Spain; Medicine Genetics Group, Vall Hebron Research Institute (VHIR), Vall d'Hebron Barcelona Hospital Campus, Autonomous University of Barcelona, Barcelona, Spain.; Cueto-González AM; Department of Clinical and Molecular Genetics, Vall d'Hebron Barcelona Hospital Campus, Barcelona, Spain; Medicine Genetics Group, Vall Hebron Research Institute (VHIR), Vall d'Hebron Barcelona Hospital Campus, Autonomous University of Barcelona, Barcelona, Spain.; Strømme P; Division of Pediatrics and Adolescent Medicine, Oslo University Hospital, 0450 Oslo and Faculty of Medicine, University of Oslo, Oslo, Norway.; Marthinsen PB; Deparment of Radiology, Oslo University Hospital-Rikshospitalet, Oslo, Norway.; Costa-Roger M; Department of Clinical and Molecular Genetics, Vall d'Hebron Barcelona Hospital Campus, Barcelona, Spain; Medicine Genetics Group, Vall Hebron Research Institute (VHIR), Vall d'Hebron Barcelona Hospital Campus, Autonomous University of Barcelona, Barcelona, Spain.; Gómez-Andrés D; Pediatric Neurology, Vall d'Hebron Institut de Recerca (VHIR), Hospital Universitari Vall d'Hebron, Vall d'Hebron Barcelona Hospital Campus, Passeig Vall d'Hebron 119-129, 08035 Barcelona, Spain.; Vázquez E; Department of Pediatric Radiology. Hospital Universitari Vall d'Hebron, Barcelona, Spain.; Kulseth MA; Department of Medical Genetics, Oslo University Hospital and University of Oslo, 0450 Oslo, Norway.; Strand ME; Department of Medical Genetics, Oslo University Hospital and University of Oslo, 0450 Oslo, Norway.; Bjørnstad PM; Department of Medical Genetics, Oslo University Hospital and University of Oslo, 0450 Oslo, Norway.; Sundaram AYM; Department of Medical Genetics, Oslo University Hospital and University of Oslo, 0450 Oslo, Norway.; Nyman TA; Department of Immunology, University of Oslo and Oslo University Hospital, Sognsvannsveien 20, 0372 Oslo, Norway.; Server A; Deparment of Radiology, Oslo University Hospital-Rikshospitalet, Oslo, Norway.; Backe PH; Department of Medical Biochemistry, Oslo University Hospital, Oslo, Norway; Department of Microbiology, Oslo University Hospital HF, Rikshospitalet, Oslo, Norway.; Rofe DS; Department of Developmental Biology and Cancer Research, Institute of Medical Research - Israel-Canada, The Hebrew University of Jerusalem, Jerusalem, 9112102, Israel.; Mellul A; Department of Developmental Biology and Cancer Research, Institute of Medical Research - Israel-Canada, The Hebrew University of Jerusalem, Jerusalem, 9112102, Israel.; Zahdeh F; Fuld Family Medical Genetics Institute and the Eisenberg R&D Authority, Shaare Zedek Medical Center, Jerusalem, 91031, Israel.; Renbaum P; Fuld Family Medical Genetics Institute and the Eisenberg R&D Authority, Shaare Zedek Medical Center, Jerusalem, 91031, Israel.; Tizzano EF; Department of Clinical and Molecular Genetics, Vall d'Hebron Barcelona Hospital Campus, Barcelona, Spain; Medicine Genetics Group, Vall Hebron Research Institute (VHIR), Vall d'Hebron Barcelona Hospital Campus, Autonomous University of Barcelona, Barcelona, Spain.; Levy-Lahad E; Fuld Family Medical Genetics Institute and the Eisenberg R&D Authority, Shaare Zedek Medical Center, Jerusalem, 91031, Israel; Faculty of Medicine, The Hebrew University of Jerusalem, Jerusalem, 9112102, Israel.; Kanaan M; Hereditary Research Laboratory, Bethlehem University, Bethlehem, Palestine.; Aden PK; Division of Pediatrics and Adolescent Medicine, Oslo University Hospital, 0450 Oslo and Faculty of Medicine, University of Oslo, Oslo, Norway.; Tabach Y; Department of Developmental Biology and Cancer Research, Institute of Medical Research - Israel-Canada, The Hebrew University of Jerusalem, Jerusalem, 9112102, Israel. Electronic address: tabachy@gmail.com.

Publisher: Elsevier Country of Publication: United States NLM ID: 9815831 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1530-0366 (Electronic) Linking ISSN: 10983600 NLM ISO Abbreviation: Genet Med Subsets: MEDLINE

Trujillano L; Clinical and Molecular Genetics Area, Vall d'Hebron Hospital, Medicine Genetics Group, Vall d'Hebron Research Institute (VHIR), Barcelona, Spain.; Valenzuela I; Clinical and Molecular Genetics Area, Vall d'Hebron Hospital, Medicine Genetics Group, Vall d'Hebron Research Institute (VHIR), Barcelona, Spain.; Costa-Roger M; Clinical and Molecular Genetics Area, Vall d'Hebron Hospital, Medicine Genetics Group, Vall d'Hebron Research Institute (VHIR), Barcelona, Spain.; Cuscó I; Genetics Department, Institut d'Investigació Biomèdica Sant Pau (IIB SANT PAU), Hospital de la Santa Creu i Sant Pau, Barcelona, Spain.; Fernandez-Alvarez P; Clinical and Molecular Genetics Area, Vall d'Hebron Hospital, Medicine Genetics Group, Vall d'Hebron Research Institute (VHIR), Barcelona, Spain.; Cueto-González A; Clinical and Molecular Genetics Area, Vall d'Hebron Hospital, Medicine Genetics Group, Vall d'Hebron Research Institute (VHIR), Barcelona, Spain.; Lasa-Aranzasti A; Clinical and Molecular Genetics Area, Vall d'Hebron Hospital, Medicine Genetics Group, Vall d'Hebron Research Institute (VHIR), Barcelona, Spain.; Masotto B; Clinical and Molecular Genetics Area, Vall d'Hebron Hospital, Medicine Genetics Group, Vall d'Hebron Research Institute (VHIR), Barcelona, Spain.; Abulí A; Clinical and Molecular Genetics Area, Vall d'Hebron Hospital, Medicine Genetics Group, Vall d'Hebron Research Institute (VHIR), Barcelona, Spain.; Codina-Solà M; Clinical and Molecular Genetics Area, Vall d'Hebron Hospital, Medicine Genetics Group, Vall d'Hebron Research Institute (VHIR), Barcelona, Spain.; Del Campo M; Department of Clinical Pediatrics, University of California, San Diego, California, USA.; Ruiz Moreno JA; Department of Pediatrics, Hospital Costa del Sol, Marbella, Málaga, Spain.; Pardo Domínguez C; Department of Pediatrics, Hospital Costa del Sol, Marbella, Málaga, Spain.; Palma Milla C; Servicio de Genética, Hospital Universitario 12 de Octubre, Madrid, Spain.; UDISGEN (Unidad de Dismorfología y Genética), Hospital Universitario 12 de Octubre, Madrid, Spain.; Pérez de la Fuente R; Servicio de Genética, Hospital Universitario 12 de Octubre, Madrid, Spain.; UDISGEN (Unidad de Dismorfología y Genética), Hospital Universitario 12 de Octubre, Madrid, Spain.; Quesada-Espinosa JF; Servicio de Genética, Hospital Universitario 12 de Octubre, Madrid, Spain.; UDISGEN (Unidad de Dismorfología y Genética), Hospital Universitario 12 de Octubre, Madrid, Spain.; Núñez-Enamorado N; Departamento de Neurología pediátrica, Hospital Universitario 12 de Octubre, Madrid, Spain.; Gener B; Department of Genetics, Cruces University Hospital, Biobizkaia Health Research Institute, Vizcaya, Spain.; Ballesta-Martínez MJ; Sección Genética Médica, Servicio de Pediatría, Hospital Clinico Universitario Virgen de la Arrixaca, Murcia, Spain.; Brea-Fernández AJ; Grupo de Genómica y Bioinformática, Centro Singular de Investigación en Medicina Molecular y Enfermedades Crónicas (CiMUS), Centro de Investigación Biomédica en Red de Enfermedades Raras del Instituto de Salud Carlos III (CIBERER-ISCIII), Universidade de Santiago de Compostela, Santiago de Compostela, Spain.; Fundación Pública Galega Instituto de Investigación Sanitaria de Santiago de Compostela (FIDIS), Santiago de Compostela, Spain.; Fernández-Prieto M; Grupo de Genómica y Bioinformática, Centro Singular de Investigación en Medicina Molecular y Enfermedades Crónicas (CiMUS), Centro de Investigación Biomédica en Red de Enfermedades Raras del Instituto de Salud Carlos III (CIBERER-ISCIII), Universidade de Santiago de Compostela, Santiago de Compostela, Spain.; Fundación Pública Galega Instituto de Investigación Sanitaria de Santiago de Compostela (FIDIS), Santiago de Compostela, Spain.; Trujillo-Quintero JP; Center for Genomic Medicine, Parc Taulí Hospital Universitari, Institut d'Investigació i Innovació Parc Taulí (I3PT-CERCA), Universitat Autònoma de Barcelona, Sabadell, Spain.; Ruiz A; Center for Genomic Medicine, Parc Taulí Hospital Universitari, Institut d'Investigació i Innovació Parc Taulí (I3PT-CERCA), Universitat Autònoma de Barcelona, Sabadell, Spain.; Santos-Simarro F; Unidad de Diagnóstico Molecular y Genética Clínica, Hospital Universitario Son Espases, Idisba, Palma de Mallorca, Spain.; Rosello M; Genetics Unit, Hospital Universitario y Politecnico La Fe, Valencia, Spain.; Orellana C; Genetics Unit, Hospital Universitario y Politecnico La Fe, Valencia, Spain.; Martinez F; Genetics Unit, Hospital Universitario y Politecnico La Fe, Valencia, Spain.; Martinez-Monseny AF; Department of Genetics and Institut de Recerca, Hospital Sant Joan de Déu Barcelona, Barcelona, Spain.; Casas-Alba D; Department of Genetics and Institut de Recerca, Hospital Sant Joan de Déu Barcelona, Barcelona, Spain.; Serrano M; Pediatric Neurology Department, Institut de Recerca, Hospital Sant Joan de Déu, Barcelona, Spain.; Palomares-Bralo M; Clinical Genetics Section, Medical and Molecular Genetics Institute (INGEMM) IdiPaz, CIBERER, Hospital Universitario La Paz, Madrid, Spain.; Rikeros-Orozco E; Clinical Genetics Section, Medical and Molecular Genetics Institute (INGEMM) IdiPaz, CIBERER, Hospital Universitario La Paz, Madrid, Spain.; Gómez-Cano MÁ; Clinical Genetics Section, Medical and Molecular Genetics Institute (INGEMM) IdiPaz, CIBERER, Hospital Universitario La Paz, Madrid, Spain.; Tirado-Requero P; Neuropediatric Unit, University Hospital La Paz, Madrid, Spain.; Pié Juste J; Unit of Clinical Genetics and Functional Genomics, Department of Pharmacology-Physiology, School of Medicine, Universidad de Zaragoza, CIBERER-GCV02 and IIS-Aragon, Zaragoza, Spain.; Ramos FJ; Unit of Clinical Genetics and Functional Genomics, Department of Pharmacology-Physiology, School of Medicine, Universidad de Zaragoza, CIBERER-GCV02 and IIS-Aragon, Zaragoza, Spain.; Unit of Clinical Genetics, Service of Paediatrics, University Hospital 'Lozano Blesa', University of Zaragoza Medical School, CIBERER-GCV02 and IIS-Aragon, Zaragoza, Spain.; García-Arumí E; Clinical and Molecular Genetics Area, Vall d'Hebron Hospital, Medicine Genetics Group, Vall d'Hebron Research Institute (VHIR), Barcelona, Spain.; Tizzano EF; Clinical and Molecular Genetics Area, Vall d'Hebron Hospital, Medicine Genetics Group, Vall d'Hebron Research Institute (VHIR), Barcelona, Spain.

Publisher: Munksgaard Country of Publication: Denmark NLM ID: 0253664 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1399-0004 (Electronic) Linking ISSN: 00099163 NLM ISO Abbreviation: Clin Genet Subsets: MEDLINE

Sébastien Küry; Janelle E. Stanton; Geeske M. van Woerden; Amélie Bosc-Rosati; Tzung-Chien Hsieh; Lise Bray; Marielle Oloudé; Cory Rosenfelt; Marie Pier Scott-Boyer; Victoria Most; Tianyun Wang; Jonas J. Papendorf; Charlotte de Konink; Wallid Deb; Virginie Vignard; Maja Studencka-Turski; Thomas Besnard; Anna M. Hajdukowicz; Franziska G. Thiel; Sophie Wolfgramm; Laëtitia Florenceau; Silvestre Cuinat; Sylvain Marsac; Yann Verrès; Audrey Dangoumau; Léa Poirier; Ingrid M. Wentzensen; Annabelle Tuttle; Cara Forster; Johanna Striesow; Richard Golnik; Damara Ortiz; Laura Jenkins; Jill A. Rosenfeld; Alban Ziegler; Clara Houdayer; Dominique Bonneau; Erin Torti; Amber Begtrup; Kristin G. Monaghan; Sureni V. Mullegama; Catharina M. L. Nienke Volker-Touw; Koen L. I. van Gassen; Renske Oegema; Mirjam S. de Pagter; Katharina Steindl; Anita Rauch; Ivan Ivanovski; Kimberly McDonald; Emily Boothe; Andrew Dauber; Janice Baker; Noelle Andrea V. Fabie; Raphael A. Bernier; Tychele N. Turner; Siddharth Srivastava; Kira A. Dies; Lindsay C. Swanson; Carrie Costin; Alali Abdulrazak; Rebekah K. Jobling; John Pappas; Rachel Rabin; Dmitriy Niyazov; Anne Chun-Hui Tsai; Karen Kovak; David B. Beck; May Christine V. Malicdan; David R. Adams; Lynne Wolfe; Rebecca D. Ganetzky; Colleen C. Muraresku; Davit Babikyan; Zdeněk Sedláček; Miroslava Hančárová; Andrew T. Timberlake; Hind Al Saif; Berkley Nestler; Kayla King; MJ Hajianpour; Gregory Costain; D’Arcy Prendergast; Chumei Li; David Geneviève; Antonio Vitobello; Arthur Sorlin; Christophe Philippe; Tamar Harel; Ori Toker; Ataf Sabir; Derek Lim; Mark J. Hamilton; Lisa J. Bryson; Elaine Cleary; Sacha Weber; Trevor L. Hoffman; Anna M. Cueto-González; Eduardo F. Tizzano; David Gómez-Andrés; Marta Codina-Solà; Athina Ververi; Efterpi Pavlidou; Alexandros Lambropoulos; Kyriakos Garganis; Marlène Rio; Jonathan Levy; Sarah J. Langas; Anne M. McRae; Mathieu K. Lessard; Maria Daniela D’Agostino; Isabelle De Bie; Meret Wegler; Rami Abou Jamra; Susanne B. Kamphausen; Viktoria Bothe; Lorraine Potocki; Eric Olinger; Yves Sznajer; Elsa Wiame; Michelle L. Thompson; Molly C. Schroeder; Catherine Gooch; Raphael A. Smith; Arti Pandya; Larissa M. Busch; Uwe Völker; Elke Hammer; Kristian Wende; Benjamin Cogné; Bertrand Isidor; Jens Meiler; Clémentine Ripoll; Stéphanie Bigou; Frédéric Laumonnier; Peter W. Hildebrand; Evan E. Eichler; Kirsty McWalter; Peter M. Krawitz; Florence Roux-Dalvai; Ype Elgersma; Julien Marcoux; Marie-Pierre Bousquet; Arnaud Droit; Jeremie Poschmann; Andreas M. Grabrucker; Francois V. Bolduc; Stéphane Bézieau; Frédéric Ebstein; Elke Krüger

Nature Communications, Vol 16, Iss 1, Pp 1-21 (2025)

Valenzuela I; Clinical and Molecular Genetics Area, Vall d'Hebron Hospital Medicine Genetics Group, Vall d'Hebron Research Institute (VHIR), Barcelona, Spain; Autonomous University of Barcelona, Barcelona, Spain.; Codina-Solà M; Clinical and Molecular Genetics Area, Vall d'Hebron Hospital Medicine Genetics Group, Vall d'Hebron Research Institute (VHIR), Barcelona, Spain.; Vazquez E; Department of Pediatric Radiology, Hospital Vall d'Hebron, Barcelona, Spain.; Cueto-González A; Clinical and Molecular Genetics Area, Vall d'Hebron Hospital Medicine Genetics Group, Vall d'Hebron Research Institute (VHIR), Barcelona, Spain.; Leno-Colorado J; Clinical and Molecular Genetics Area, Vall d'Hebron Hospital Medicine Genetics Group, Vall d'Hebron Research Institute (VHIR), Barcelona, Spain.; Lasa-Aranzasti A; Clinical and Molecular Genetics Area, Vall d'Hebron Hospital Medicine Genetics Group, Vall d'Hebron Research Institute (VHIR), Barcelona, Spain.; Trujillano L; Clinical and Molecular Genetics Area, Vall d'Hebron Hospital Medicine Genetics Group, Vall d'Hebron Research Institute (VHIR), Barcelona, Spain.; Masotto B; Clinical and Molecular Genetics Area, Vall d'Hebron Hospital Medicine Genetics Group, Vall d'Hebron Research Institute (VHIR), Barcelona, Spain.; Masas M; Clinical and Molecular Genetics Area, Vall d'Hebron Hospital Medicine Genetics Group, Vall d'Hebron Research Institute (VHIR), Barcelona, Spain.; Escobar M; Clinical and Molecular Genetics Area, Vall d'Hebron Hospital Medicine Genetics Group, Vall d'Hebron Research Institute (VHIR), Barcelona, Spain.; García-Arumí E; Clinical and Molecular Genetics Area, Vall d'Hebron Hospital Medicine Genetics Group, Vall d'Hebron Research Institute (VHIR), Barcelona, Spain.; Tizzano EF; Clinical and Molecular Genetics Area, Vall d'Hebron Hospital Medicine Genetics Group, Vall d'Hebron Research Institute (VHIR), Barcelona, Spain.

Publisher: Elsevier Country of Publication: United States NLM ID: 9815831 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1530-0366 (Electronic) Linking ISSN: 10983600 NLM ISO Abbreviation: Genet Med Subsets: MEDLINE; In Process

Aranda, Selena; Ribeiro-Constante, Juliana; Tristán-Noguero, Alba; Moreno-Ruiz, Nerea; Arenas, Concepción; Calvo, Fernando Francisco Martínez; Ibañez-Mico, Salvador; Segura, José Luis Peña; Ramos-Fernández, José Miguel; del Carmen Moyano Chicano, María; León, Rafael Camino; Soto-Insuga, Víctor; González-Alguacil, Elena; Dávila, Carlos Valera; Fernández-Jaén, Alberto; Plans, Laura; Camacho, Ana; Visa-Reñé, Nuria; del Pilar Martin-Tamayo Blázquez, María; Paredes-Carmona, Fernando; Marti-Carrera, Itxaso; Ginot-Julià, Guillem; Hernández-Fabián, Aránzazu; Davi, Meritxell Tomas; Sanchez, Merce Casadesus; Herraiz, Laura Cuesta; Pita, Patricia Fuentes; Gonzalez, Teresa Bermejo; O'Callaghan, Mar; Iglesias Santa Polonia, Federico Felipe; Cazorla, María Rosario; Lucas, María Teresa Ferrando; González-Meneses, Antonio; Sala-Coromina, Júlia; Macaya, Alfons; Lasa-Aranzasti, Amaia; Anna, M.; Cueto-González; Párraga, Francisca Valera; Plana, Jaume Campistol; Serrano, Mercedes; Alonso, Xenia; Palafoll, Maria Irene Valenzuela; Monteagudo, Eines; Alonso-Colmenero, Itziar; Capdevila, Oscar Sans; Casals, Ferran; Cormand, Bru; García-Cazorla, Angeles; Bayés, Àlex; Mitjans, Marina

Neurobiology of Disease.

van der Laan, Liselot; Karimi, Karim; Rooney, Kathleen; Alders, Mariëlle; Brusco, Alfredo; Lasa-Aranzasti, Amaia; Brunetti-Pierri, Nicola; Cueto-González, Anna; R. Dupont, Barbara; Cappuccio, Gerarda; Dubourg, Christèle; Everman, David; Gatinois, Vincent; Ganne, Benjamin; Geneviève, David; Ferrero, Giovanni Battista; Kempers, Marlies; Levy, Michael; Ciolfi, Andrea; Novelli, Antonio; Orlando, Valeria; Odent, Sylvie; Patterson, Wesley G; M Polstra, Abeltje; Roscioli, Tony; Ruiz Pallares, Nathalie; Sabbagh, Quentin; Trajkova, Slavica; Tartaglia, Marco; Tedder, Matthew; Toutain, Annick; Koehler, Udo; Valenzuena Palafoll, Irene; van Hagen, Johanna M.; van der Kevie-Kersemaekers, Anne-Marie; Henneman, Peter; Mannens, Marcel M.A.M; Sadikovic, Bekim; van Haelst, Mieke M

European Journal of Human Genetics.

Lei Ji; Jin Yan; Nicole A. Losurdo; Hua Wang; Liangjie Liu; Keyi Li; Zhen Liu; Zhenming Guo; Jing Xu; Adriana Bibo; Decheng Ren; Ke Yang; Yingying Luo; Fengping Yang; Gui Wang; Zhenglong Xiang; Yuan Wang; Huaizhe Zhan; Hu Pan; Juanli Hu; Jianmin Zhong; Rami Abou Jamra; Pia Zacher; Luciana Musante; Flavio Faletra; Paola Costa; Caterina Zanus; Nathalie Couque; Lyse Ruaud; Anna M. Cueto-González; Hector San Nicolas Fernández; Eduardo Tizzano; Nuria Martinez Gil; Xiaorong Liu; Weiping Liao; Layal Abi Farraj; Alden Y. Huang; Liying Zhang; Aparna Murali; Esther Schmuel; Christina S. Han; Kayla King; Weiyue Gu; Pengchao Wang; Kai Li; Nichole Link; Guang He; Shan Bian; Xiao Mao

J Clin Invest
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Scientia. Dipòsit d'Informació Digital del Departament de Salut
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van der Laan, Liselot ; Relator, Raissa ; Valenzuela, Irene ; Mul, Adri N. ; Alders, Mariëlle ; Levy, Michael A. ; Kerkhof, Jennifer ; Rzasa, Jessica ; Cueto-González, Anna M. ; Lasa-Aranzasti, Amaia ; Cea-Arestin, Cristina ; Mannens, Marcel M.A.M. ; van Haelst, Mieke M. ; Tizzano, Eduardo F. ; Sadikovic, Bekim ; Henneman, Peter

In Genetics in Medicine December 2025 27(12)

Yosra Mehrjoo; Philippe M. Campeau; Lama Al Abdi; Abdullah Aldowaish; Omar Abouyousef; Fowzan S. Alkuraya; Marta Codina‐Solà; Anna M. Cueto‐González; Hugo Wurtele

Clinical Genetics. 106:342-346

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)

Grimes H; Department of Clinical Genetics, University Hospitals Bristol and Weston NHS Trust, Bristol, UK.; Ansari M; South East Scotland Genetics Service, Western General Hospital, Edinburgh, UK.; Ashraf T; Department of Clinical Genetics, Great Ormond Street Hospital, London, UK.; Cueto-González AM; Department of Clinical and Molecular Genetics, Vall d'Hebron Barcelona Hospital Campus, Barcelona, Spain.; Medicine Genetics Group, Vall Hebron Research Institute (VHIR), Vall d'Hebron Barcelona Hospital Campus, Autonomous University of Barcelona, Barcelona, Spain.; Calder A; Department of Radiology, Great Ormond Street Hospital, London, UK.; Day M; Exeter Genetics Laboratory, Royal Devon and Exeter NHS Trust, Exeter, UK.; Fernandez Alvarez P; Department of Clinical and Molecular Genetics, Vall d'Hebron Barcelona Hospital Campus, Barcelona, Spain.; Foster A; Department of Clinical Genetics, West Midlands Regional Genetics Centre, Birmingham, UK.; Lahiri N; Department of Clinical Genetics, St Georges University Hospital NHS Foundation Trust, London, UK.; Department of Clinical and Molecular Science, St Georges University of London, London, UK.; Repetto GM; Centro de Genética y Genómica, Facultad de Medicina Clínica Alemana Universidad del Desarrollo, Santiago, Chile.; Scurr I; Department of Clinical Genetics, University Hospitals Bristol and Weston NHS Trust, Bristol, UK.; Varghese V; All Wales Medical Genomics Services, University Hospital of Wales, Cardiff, UK.; Low KJ; Department of Clinical Genetics, University Hospitals Bristol and Weston NHS Trust, Bristol, UK.; Centre for Academic Child Health, University of Bristol, Bristol, UK.

Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4833 (Electronic) Linking ISSN: 15524825 NLM ISO Abbreviation: Am J Med Genet A Subsets: MEDLINE

Grenier, Celine; Lopes, Filipa M.; Cueto-González, Anna M.; Rovira-Moreno, Eulàlia; Gander, Romy; Jarvis, Benjamin W.; McCloskey, Karen D.; Gurney, Alison M.; Beaman, Glenda M.; Newman, William G.; Woolf, Adrian S.; Roberts, Neil A.

Kidney Int Rep
Grenier, C, Lopes, F M, Cueto-González, A M, Rovira-Moreno, E, Gander, R, Jarvis, B W, McCloskey, K D, Gurney, A M, Beaman, G M, Newman, W G, Woolf, A S & Roberts, N A 2023, 'Neurogenic defects occur in LRIG2-associated urinary bladder disease', Kidney International Reports, vol. 8, no. 7, pp. 1417-1429. https://doi.org/10.1016/j.ekir.2023.04.017
Grenier, C, Lopes, F, Cueto-González, A M, Rovira-Moreno, E, Gander, R, Jarvis, B, McCloskey, K D, Gurney, A, Beaman, G, Newman, W, Woolf, A S & Roberts, N 2023, 'Neurogenic defects occur in LRIG2-associated urinary bladder disease', Kidney International Reports, vol. 8, no. 7, pp. 1417-1429. https://doi.org/10.1016/j.ekir.2023.04.017

Francisca Díaz‐González; Manuel Parrón‐Pajares; Elsa Lucas‐Castro; Silvia Modamio‐Høybjør; Lucia Sentchordi‐Montané; Verónica Seidel; Pablo Prieto; Guillermo Tarraso‐Urios; Marta Codina‐Sola; Anna M. Cueto‐González; Mary J. Ballesta‐Martínez; Fernando Santos‐Simarro; Sergio B. Sousa; Karen E. Heath

Clinical Genetics. 104:100-106

van der Sluijs, Pleuntje J; Joosten, Marieke; Alby, Caroline; Attié-Bitach, Tania; Gilmore, Kelly; Dubourg, Christele; Fradin, Mélanie; Wang, Tianyun; Kurtz-Nelson, Evangeline C; Ahlers, Kaitlyn P; Arts, Peer; Barnett, Christopher P; Ashfaq, Myla; Baban, Anwar; van den Born, Myrthe; Borrie, Sarah; Busa, Tiffany; Byrne, Alicia; Carriero, Miriam; Cesario, Claudia; Chong, Karen; Cueto-González, Anna Maria; Dempsey, Jennifer C; Diderich, Karin E M; Doherty, Dan; Farholt, Stense; Gerkes, Erica H; Gorokhova, Svetlana; Govaerts, Lutgarde C P; Gregersen, Pernille A; Hickey, Scott E; Lefebvre, Mathilde; Mari, Francesca; Martinovic, Jelena; Northrup, Hope; O'Leary, Melanie; Parbhoo, Kareesma; Patrier, Sophie; Popp, Bernt; Santos-Simarro, Fernando; Stoltenburg, Corinna; Thauvin-Robinet, Christel; Thompson, Elisabeth; Vulto-van Silfhout, Anneke T; Zahir, Farah R; Scott, Hamish S; Earl, Rachel K; Eichler, Evan E; Vora, Neeta L; Wilnai, Yael; Giordano, Jessica L; Wapner, Ronald J; Rosenfeld, Jill A; Haak, Monique C; Santen, Gijs W E

Repositorio Institucional de la Consejería de Sanidad de la Comunidad de Madrid
Consejería de Sanidad de la Comunidad de Madrid
Genetics in Medicine, 24, 8, pp. 1753-1760
van der Sluijs, P J, Joosten, M, Alby, C, Attié-Bitach, T, Gilmore, K, Dubourg, C, Fradin, M, Wang, T, Kurtz-Nelson, E C, Ahlers, K P, Arts, P, Barnett, C P, Ashfaq, M, Baban, A, van den Born, M, Borrie, S, Busa, T, Byrne, A, Carriero, M, Cesario, C, Chong, K, Cueto-González, A M, Dempsey, J C, Diderich, K E M, Doherty, D, Farholt, S, Gerkes, E H, Gorokhova, S, Govaerts, L C P, Gregersen, P A, Hickey, S E, Lefebvre, M, Mari, F, Martinovic, J, Northrup, H, O'Leary, M, Parbhoo, K, Patrier, S, Popp, B, Santos-Simarro, F, Stoltenburg, C, Thauvin-Robinet, C, Thompson, E, Vulto-van Silfhout, A T, Zahir, F R, Scott, H S, Earl, R K, Eichler, E E, Vora, N L, Wilnai, Y, Giordano, J L, Wapner, R J, Rosenfeld, J A, Haak, M C & Santen, G W E 2022, 'Discovering a new part of the phenotypic spectrum of Coffin-Siris syndrome in a fetal cohort', Genetics in Medicine, vol. 24, no. 8, pp. 1753-1760. https://doi.org/10.1016/j.gim.2022.04.010

Valenzuela I; Clinical and Molecular Genetics Area, Vall d'Hebron Hospital Medicine Genetics Group, Vall d'Hebron Research Institute (VHIR), Barcelona, Spain. Electronic address: irene.valenzuela@vallhebron.cat.; Codina-Solà M; Clinical and Molecular Genetics Area, Vall d'Hebron Hospital Medicine Genetics Group, Vall d'Hebron Research Institute (VHIR), Barcelona, Spain.; Vazquez E; Department of Pediatric Radiology, Hospital Vall d'Hebron, Barcelona, Spain.; Cueto-González A; Clinical and Molecular Genetics Area, Vall d'Hebron Hospital Medicine Genetics Group, Vall d'Hebron Research Institute (VHIR), Barcelona, Spain.; Leno-Colorado J; Clinical and Molecular Genetics Area, Vall d'Hebron Hospital Medicine Genetics Group, Vall d'Hebron Research Institute (VHIR), Barcelona, Spain.; Lasa-Aranzasti A; Clinical and Molecular Genetics Area, Vall d'Hebron Hospital Medicine Genetics Group, Vall d'Hebron Research Institute (VHIR), Barcelona, Spain.; Trujillano L; Clinical and Molecular Genetics Area, Vall d'Hebron Hospital Medicine Genetics Group, Vall d'Hebron Research Institute (VHIR), Barcelona, Spain.; Masotto B; Clinical and Molecular Genetics Area, Vall d'Hebron Hospital Medicine Genetics Group, Vall d'Hebron Research Institute (VHIR), Barcelona, Spain.; Masas M; Clinical and Molecular Genetics Area, Vall d'Hebron Hospital Medicine Genetics Group, Vall d'Hebron Research Institute (VHIR), Barcelona, Spain.; Escobar M; Clinical and Molecular Genetics Area, Vall d'Hebron Hospital Medicine Genetics Group, Vall d'Hebron Research Institute (VHIR), Barcelona, Spain.; García-Arumí E; Clinical and Molecular Genetics Area, Vall d'Hebron Hospital Medicine Genetics Group, Vall d'Hebron Research Institute (VHIR), Barcelona, Spain.; Tizzano EF; Clinical and Molecular Genetics Area, Vall d'Hebron Hospital Medicine Genetics Group, Vall d'Hebron Research Institute (VHIR), Barcelona, Spain.

Publisher: Elsevier Country of Publication: United States NLM ID: 9815831 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1530-0366 (Electronic) Linking ISSN: 10983600 NLM ISO Abbreviation: Genet Med Subsets: MEDLINE

Loberti L; Medical Genetics, University of Siena, Siena 53100, Italy.; Med Biotech Hub and Competence Centre, Department of Medical Biotechnologies, University of Siena, Siena 53100, Italy.; Genetica Medica, Azienda Ospedaliera Universitaria Senese, Siena 53100, Italy.; Bruno LP; Medical Genetics, University of Siena, Siena 53100, Italy.; Med Biotech Hub and Competence Centre, Department of Medical Biotechnologies, University of Siena, Siena 53100, Italy.; Granata S; Medical Genetics, University of Siena, Siena 53100, Italy.; Med Biotech Hub and Competence Centre, Department of Medical Biotechnologies, University of Siena, Siena 53100, Italy.; Genetica Medica, Azienda Ospedaliera Universitaria Senese, Siena 53100, Italy.; Doddato G; Medical Genetics, University of Siena, Siena 53100, Italy.; Med Biotech Hub and Competence Centre, Department of Medical Biotechnologies, University of Siena, Siena 53100, Italy.; Resciniti S; Medical Genetics, University of Siena, Siena 53100, Italy.; Med Biotech Hub and Competence Centre, Department of Medical Biotechnologies, University of Siena, Siena 53100, Italy.; Fava F; Medical Genetics, University of Siena, Siena 53100, Italy.; Med Biotech Hub and Competence Centre, Department of Medical Biotechnologies, University of Siena, Siena 53100, Italy.; Genetica Medica, Azienda Ospedaliera Universitaria Senese, Siena 53100, Italy.; Carullo M; Medical Genetics, University of Siena, Siena 53100, Italy.; Med Biotech Hub and Competence Centre, Department of Medical Biotechnologies, University of Siena, Siena 53100, Italy.; Rahikkala E; Department of Clinical Genetics, PEDEGO Research Unit, and Medical Research Center Oulu, University of Oulu and Oulu University Hospital, Oulu 90014, Finland.; Jouret G; National Center of Genetics (NCG), Laboratoire national de santé (LNS), L-3555 Dudelange, Luxembourg.; Menke LA; Amsterdam UMC location University of Amsterdam, Department of Pediatrics, Amsterdam 1100, The Netherlands.; Lederer D; Institut de Pathologie et de Génétique; Centre de Génétique Humaine, Gosselies 6041, Belgium.; Vrielynck P; William Lennox Neurological Hospital, Reference Center for Refractory Epilepsy UCLouvain, Ottignies 1340, Belgium.; Ryba L; Department of Biology and Medical Genetics, Charles University - 2nd Faculty of Medicine and University Hospital Motol, Prague 150 00, Czech Republic.; Brunetti-Pierri N; Department of Translational Medicine, University of Naples 'Federico II', Naples 80125, Italy.; Lasa-Aranzasti A; Area of Clinical and Molecular Genetics, Vall d'Hebron University Hospital, Barcellona 08035, Spain.; Cueto-González AM; Area of Clinical and Molecular Genetics, Vall d'Hebron University Hospital, Barcellona 08035, Spain.; Trujillano L; Area of Clinical and Molecular Genetics, Vall d'Hebron University Hospital, Barcellona 08035, Spain.; Valenzuela I; Area of Clinical and Molecular Genetics, Vall d'Hebron University Hospital, Barcellona 08035, Spain.; Tizzano EF; Area of Clinical and Molecular Genetics, Vall d'Hebron University Hospital, Barcellona 08035, Spain.; Spinelli AM; Regional Coordinating Center for Rare Diseases, Udine 33100, Italy.; Bruno I; Institute for Maternal and Child Health, Trieste 34100, Italy.; Currò A; Genetic Counseling Service, Department of Pediatrics, Regional Hospital of Bolzano, Bolzano 39100, Italy.; Stanzial F; Genetic Counseling Service, Department of Pediatrics, Regional Hospital of Bolzano, Bolzano 39100, Italy.; Benedicenti F; Genetic Counseling Service, Department of Pediatrics, Regional Hospital of Bolzano, Bolzano 39100, Italy.; Lopergolo D; IRCCS Stella Maris Foundation, Molecular Medicine for Neurodegenerative and Neuromuscular Disease Unit, Pisa 98125, Italy.; Santorelli FM; IRCCS Stella Maris Foundation, Molecular Medicine for Neurodegenerative and Neuromuscular Disease Unit, Pisa 98125, Italy.; Aristidou C; Department of Clinical Genetics and Genomics, The Cyprus Institute of Neurology & Genetics, Nicosia 1683, Cyprus.; Tanteles GA; Department of Clinical Genetics and Genomics, The Cyprus Institute of Neurology & Genetics, Nicosia 1683, Cyprus.; Maystadt I; Institut de Pathologie et de Génétique; Centre de Génétique Humaine, Gosselies 6041, Belgium.; Tkemaladze T; Department of Molecular and Medical Genetics, Tbilisi State Medical University, Tbilisi 0162, Georgia.; Reimand T; Department of Clinical Genetics, Genetic and Personalized Medicine Clinic, Tartu University Hospital, Tartu 50406, Estonia.; Institute of Clinical Medicine, University of Tartu, Tartu 50406, Estonia.; Lokke H; Department of Clinical Genetics, Genetic and Personalized Medicine Clinic, Tartu University Hospital, Tartu 50406, Estonia.; Institute of Clinical Medicine, University of Tartu, Tartu 50406, Estonia.; Õunap K; Department of Clinical Genetics, Genetic and Personalized Medicine Clinic, Tartu University Hospital, Tartu 50406, Estonia.; Institute of Clinical Medicine, University of Tartu, Tartu 50406, Estonia.; Haanpää MK; Department of Genomics and Clinical Genetics, Turku University Hospital, Turku 20500, Finland.; Holubová A; Department of Biology and Medical Genetics, Charles University - 2nd Faculty of Medicine and University Hospital Motol, Prague 150 00, Czech Republic.; Zoubková V; Department of Biology and Medical Genetics, Charles University - 2nd Faculty of Medicine and University Hospital Motol, Prague 150 00, Czech Republic.; Schwarz M; Department of Biology and Medical Genetics, Charles University - 2nd Faculty of Medicine and University Hospital Motol, Prague 150 00, Czech Republic.; Žordania R; Department of Clinical Genetics, Genetic and Personalized Medicine Clinic, Tartu University Hospital, Tartu 50406, Estonia.; Muru K; Department of Clinical Genetics, Genetic and Personalized Medicine Clinic, Tartu University Hospital, Tartu 50406, Estonia.; Institute of Clinical Medicine, University of Tartu, Tartu 50406, Estonia.; Roht L; Department of Clinical Genetics, Genetic and Personalized Medicine Clinic, Tartu University Hospital, Tartu 50406, Estonia.; Institute of Clinical Medicine, University of Tartu, Tartu 50406, Estonia.; Tihveräinen A; Department of Child Neurology, Turku University Hospital, Turku 20500, Finland.; Teek R; Department of Clinical Genetics, Genetic and Personalized Medicine Clinic, Tartu University Hospital, Tartu 50406, Estonia.; Thomson U; Centre for Neurological Diseases, West-Tallinn Central Hospital, Tallinn 10617, Estonia.; Atallah I; Division of Genetic Medicine, Lausanne University Hospital (CHUV) and University of Lausanne, 1011 Lausanne, Switzerland.; Superti-Furga A; Division of Genetic Medicine, Lausanne University Hospital (CHUV) and University of Lausanne, 1011 Lausanne, Switzerland.; Buoni S; Division of Child and Adolescent Neuropsychiatry, University of Siena, Siena 53100, Italy.; Canitano R; Division of Child and Adolescent Neuropsychiatry, University of Siena, Siena 53100, Italy.; Scandurra V; Division of Child and Adolescent Neuropsychiatry, University of Siena, Siena 53100, Italy.; Rossetti A; Clinical Paediatrics, Department of Molecular Medicine and Development, University of Siena, Siena 53100, Italy.; Grosso S; Clinical Paediatrics, Department of Molecular Medicine and Development, University of Siena, Siena 53100, Italy.; Battini R; IRCCS Stella Maris Foundation, Department of Developmental Neuroscience, Pisa 98125, Italy.; Department of Clinical and Experimental Medicine, University of Pisa, Pisa 56122, Italy.; Baldassarri M; Medical Genetics, University of Siena, Siena 53100, Italy.; Med Biotech Hub and Competence Centre, Department of Medical Biotechnologies, University of Siena, Siena 53100, Italy.; Mencarelli MA; Genetica Medica, Azienda Ospedaliera Universitaria Senese, Siena 53100, Italy.; Rizzo CL; Genetica Medica, Azienda Ospedaliera Universitaria Senese, Siena 53100, Italy.; Bruttini M; Medical Genetics, University of Siena, Siena 53100, Italy.; Med Biotech Hub and Competence Centre, Department of Medical Biotechnologies, University of Siena, Siena 53100, Italy.; Genetica Medica, Azienda Ospedaliera Universitaria Senese, Siena 53100, Italy.; Mari F; Medical Genetics, University of Siena, Siena 53100, Italy.; Med Biotech Hub and Competence Centre, Department of Medical Biotechnologies, University of Siena, Siena 53100, Italy.; Genetica Medica, Azienda Ospedaliera Universitaria Senese, Siena 53100, Italy.; Ariani F; Medical Genetics, University of Siena, Siena 53100, Italy.; Med Biotech Hub and Competence Centre, Department of Medical Biotechnologies, University of Siena, Siena 53100, Italy.; Genetica Medica, Azienda Ospedaliera Universitaria Senese, Siena 53100, Italy.; Renieri A; Medical Genetics, University of Siena, Siena 53100, Italy.; Med Biotech Hub and Competence Centre, Department of Medical Biotechnologies, University of Siena, Siena 53100, Italy.; Genetica Medica, Azienda Ospedaliera Universitaria Senese, Siena 53100, Italy.; Pinto AM; Genetica Medica, Azienda Ospedaliera Universitaria Senese, Siena 53100, Italy.

Publisher: IRL Press at Oxford University Press Country of Publication: England NLM ID: 9208958 Publication Model: Print Cited Medium: Internet ISSN: 1460-2083 (Electronic) Linking ISSN: 09646906 NLM ISO Abbreviation: Hum Mol Genet Subsets: MEDLINE

Sébastien Küry; Janelle E. Stanton; Geeske van Woerden; Tzung-Chien Hsieh; Cory Rosenfelt; Marie Pier Scott-Boyer; Victoria Most; Tianyun Wang; Jonas Johannes Papendorf; Charlotte de Konink; Wallid Deb; Virginie Vignard; Maja Studencka-Turski; Thomas Besnard; Anna Marta Hajdukowicz; Franziska Thiel; Sophie Möller; Laëtitia Florenceau; Silvestre Cuinat; Sylvain Marsac; Ingrid Wentzensen; Annabelle Tuttle; Cara Forster; Johanna Striesow; Richard Golnik; Damara Ortiz; Laura Jenkins; Jill A. Rosenfeld; Alban Ziegler; Clara Houdayer; Dominique Bonneau; Erin Torti; Amber Begtrup; Kristin G. Monaghan; Sureni V. Mullegama; C.M.L. (Nienke) Volker-Touw; Koen L. I. van Gassen; Renske Oegema; Mirjam de Pagter; Katharina Steindl; Anita Rauch; Ivan Ivanovski; Kimberly McDonald; Emily Boothe; Andrew Dauber; Janice Baker; Noelle Andrea V Fabie; Raphael A. Bernier; Tychele N. Turner; Siddharth Srivastava; Kira A. Dies; Lindsay Swanson; Carrie Costin; Rebekah K. Jobling; John Pappas; Rachel Rabin; Dmitriy Niyazov; Anne Chun-Hui Tsai; Karen Kovak; David B. Beck; MCV Malicdan; David R. Adams; Lynne Wolfe; Rebecca D. Ganetzky; Colleen Muraresku; Davit Babikyan; Zdeněk Sedláček; Miroslava Hančárová; Andrew T. Timberlake; Hind Al Saif; Berkley Nestler; Kayla King; MJ Hajianpour; Gregory Costain; D’Arcy Prendergast; Chumei Li; David Geneviève; Antonio Vitobello; Arthur Sorlin; Christophe Philippe; Tamar Harel; Ori Toker; Ataf Sabir; Derek Lim; Mark Hamilton; Lisa Bryson; Elaine Cleary; Sacha Weber; Trevor L. Hoffman; Anna Maria Cueto-González; Eduardo Fidel Tizzano; David Gómez-Andrés; Marta Codina-Solà; Athina Ververi; Efterpi Pavlidou; Alexandros Lambropoulos; Kyriakos Garganis; Marlène Rio; Jonathan Levy; Sarah Jurgensmeyer; Anne M. McRae; Mathieu Kent Lessard; Maria Daniela D’Agostino; Isabelle De Bie; Meret Wegler; Rami Abou Jamra; Susanne B. Kamphausen; Viktoria Bothe; Larissa M. Busch; Uwe Völker; Elke Hammer; Kristian Wende; Benjamin Cogné; Bertrand Isidor; Jens Meiler; Amélie Bosc-Rosati; Julien Marcoux; Marie-Pierre Bousquet; Jeremie Poschmann; Frédéric Laumonnier; Peter W. Hildebrand; Evan E. Eichler; Kirsty McWalter; Peter M. Krawitz; Arnaud Droit; Ype Elgersma; Andreas M. Grabrucker; Francois V. Bolduc; Stéphane Bézieau; Frédéric Ebstein; Elke Krüger

Szot, Justin O.; Slavotinek, Anne; Chong, Karen; Brandau, Oliver; Nezarati, Marjan; Cueto-González, Anna M.; Patel, Millan S.; Devine, Walter P.; Rego, Shannon; Acyinena, Alicia P.; Shannon, Patrick; Myles-Reid, Diane; Blaser, Susan; Mieghem, Tim V.; Yavuz-Kienle, Halenur; Skladny, Heyko; Miller, Kristen; Riera, Miereia D. T.; Martínez, Silvia A.; Tizzano, Eduardo F.; Dupuis, Lucie; James Stavropoulos, Dimitri; McNiven, Vanda; Mendoza-Londono, Roberto; Elliott, Alison M.; Phillips, Robert S.; Chapman, Gavin; Dunwoodie, Sally L.; Adam, Shelin; Dragojlovic, Nick; du Souich, Christèle; Lehman, Anna; Lynd, Larry; Mwenifumbo, Jill; Nelson, Tanya N.; van Karnebeek, Clara; Friedman, Jan M.

Human Mutation. 42:862-876

Schlüter, Agatha; Rodriguez-Palmero, Agustí; Cáceres, Alejandro; Nascimento, Andrés; García-Cazorla, Àngels; Cueto-González, Anna; Marcé-Grau, Anna; Nel.lo, Anna Ruiz; Martínez-Monseny, Antonio; Sànchez, Aurora; García, Belén; Pérez-Dueñas, Belén; Gel, Bernat; Fusté, Berta; Hernández-Ferrer, Carles; Casasnovas, Carlos; Ortez, Carlos; Arjona, César; Hernando-Davalillo, Cristina; de Benito, Daniel Natera; Amador, Daniel Picó; Gómez-Andrés, David; Yubero, Dèlia; Pelegrí-Sisó, Dolors; Verdura, Edgard; García-Arumí, Elena; Castellanos, Elisabeth; Gabau, Elisabeth; Tobías, Ester; López-Grondona, Fermina; Cardellach, Francesc; Garcia-Garcia, Francesc Josep; Munell, Francina; Tort, Frederic; Aznar, Gemma; Olivé-Cirera, Gemma; Tell, Gemma; Muñoz-Pujol, Gerard; Paramonov, Ida; Blanco, Ignacio; Madrigal, Irene; Valenzuela, Irene; Gut, Ivo; Cusco, Ivon; Trotta, Jean-Rémi; Cruz, Jordi; Díaz-Manera, Jordi; Milisenda, José César; a<%2Fce%3Asup>+Grau%2C+Josep">M

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