학술논문
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'학술논문'
에서 검색결과 20건 | 목록
1~20
Academic Journal
Juliane Sachsenweger; Rebecca Jansche; Tatjana Merk; Benedikt Heitmeir; Miriam Deniz; Ulrike Faust; Cristiana Roggia; Andreas Tzschach; Christopher Schroeder; Angelika Riess; Helmut Pospiech; Hellevi Peltoketo; Katri Pylkäs; Robert Winqvist; Lisa Wiesmüller
Cell Death and Disease, Vol 14, Iss 5, Pp 1-15 (2023)
Academic Journal
Stefanie Beck‐Wödl; Christiane Kehrer; Klaus Harzer; Tobias B. Haack; Friederike Bürger; Dorothea Haas; Angelika Rieß; Samuel Groeschel; Ingeborg Krägeloh‐Mann; Judith Böhringer
JIMD Reports, Vol 58, Iss 1, Pp 80-88 (2021)
Academic Journal
Thorsten Schmidt; Anastasia Gazou; Angelika Rieß; Olaf Rieß; Kathrin Grundmann-Hauser; Ruth Falb; Malou Schadeck; Tilman Heinrich; Mahkameh Abeditashi; Jana Schmidt; Ulrike A. Mau-Holzmann; Kai P. Schnabel
BMC Medical Education, Vol 20, Iss 1, Pp 1-8 (2020)
Academic Journal
Holger Hengel; Célia Bosso-Lefèvre; George Grady; Emmanuelle Szenker-Ravi; Hankun Li; Sarah Pierce; Élise Lebigot; Thong-Teck Tan; Michelle Y. Eio; Gunaseelan Narayanan; Kagistia Hana Utami; Monica Yau; Nader Handal; Werner Deigendesch; Reinhard Keimer; Hiyam M. Marzouqa; Meral Gunay-Aygun; Michael J. Muriello; Helene Verhelst; Sarah Weckhuysen; Sonal Mahida; Sakkubai Naidu; Terrence G. Thomas; Jiin Ying Lim; Ee Shien Tan; Damien Haye; Michèl A. A. P. Willemsen; Renske Oegema; Wendy G. Mitchell; Tyler Mark Pierson; Marisa V. Andrews; Marcia C. Willing; Lance H. Rodan; Tahsin Stefan Barakat; Marjon van Slegtenhorst; Ralitza H. Gavrilova; Diego Martinelli; Tal Gilboa; Abdullah M. Tamim; Mais O. Hashem; Moeenaldeen D. AlSayed; Maha M. Abdulrahim; Mohammed Al-Owain; Ali Awaji; Adel A. H. Mahmoud; Eissa A. Faqeih; Ali Al Asmari; Sulwan M. Algain; Lamyaa A. Jad; Hesham M. Aldhalaan; Ingo Helbig; David A. Koolen; Angelika Riess; Ingeborg Kraegeloh-Mann; Peter Bauer; Suleyman Gulsuner; Hannah Stamberger; Alvin Yu Jin Ng; Sha Tang; Sumanty Tohari; Boris Keren; Laura E. Schultz-Rogers; Eric W. Klee; Sabina Barresi; Marco Tartaglia; Hagar Mor-Shaked; Sateesh Maddirevula; Amber Begtrup; Aida Telegrafi; Rolph Pfundt; Rebecca Schüle; Brian Ciruna; Carine Bonnard; Mahmoud A. Pouladi; James C. Stewart; Adam Claridge-Chang; Dirk J. Lefeber; Fowzan S. Alkuraya; Ajay S. Mathuru; Byrappa Venkatesh; Joseph J. Barycki; Melanie A. Simpson; Saumya S. Jamuar; Ludger Schöls; Bruno Reversade
Nature Communications, Vol 11, Iss 1, Pp 1-16 (2020)
Academic Journal
Mark Stevenson; Asha L. Bayliss; Victoria J. Stokes; Katherine A. English; Kreepa G. Kooblall; Roman Fischer; Raphael Heilig; Iolanda Vendrell; Maria E. W. A. Albers; Meghan Bartos; Amber Begtrup; Alexia Bourgois; Rebecca Buchert; David J. Carey; Deanna A. Carere; Amanda Carnevale; Kristl G. Claeys; Benjamin Cogne; Gregory Costain; Nicole de Leeuw; Anne-Sophie Denommé-Pichon; Elizabeth J. Donner; Eftychia Drogouti; David A. Dyment; Balram Gangaram; Tobias B. Haack; Jeremy S. Haley; Solveig Heide; Ralf A. Husain; Bertrand Isidor; Louise Izatt; Adeline Jacquinet; Jane Juusola; Juliette J. Kahle; Boris Keren; Eric W. Klee; Evgenia Kokosali; Brendan C. Lanpher; Erica L. Macke; Elysa J. Marco; Kirsty McWalter; Bryce A. Mendelsohn; Aubrey Milunsky; Matthew Osmond; Amelie Piton; Angelika Riess; Valentin Ruault; Patrick Rump; Sarah Schuhmann; Amelle L. Shillington; Diane T. Smelser; Lot Snijders Blok; Frederic Tran Mau-Them; Christos Tsakalidis; Abigail Turnwald; Koen L. I. Van Gassen; Kristof Van Schil; Georgia Vasileiou; Marissa Vawter-Lee; Marjolaine Willems; Marjolein H. Willemsen; Lily C. Wong-Kisiel; Antje Wonneberger; Ioannis Zaganas; Fadil M. Hannan; Kate E. Lines; Rajesh V. Thakker
Academic Journal
Jet van der Spek; Joery den Hoed; Lot Snijders Blok; Alexander J.M. Dingemans; Dick Schijven; Christoffer Nellaker; Hanka Venselaar; Galuh D.N. Astuti; Tahsin Stefan Barakat; E. Martina Bebin; Stefanie Beck-Wödl; Gea Beunders; Natasha J. Brown; Theresa Brunet; Han G. Brunner; Philippe M. Campeau; Goran Čuturilo; Christian Gilissen; Tobias B. Haack; Irina Hüning; Ralf A. Husain; Benjamin Kamien; Sze Chern Lim; Luca Lovrecic; Janine Magg; Ales Maver; Valancy Miranda; Danielle C. Monteil; Charlotte W. Ockeloen; Lynn S. Pais; Vasilica Plaiasu; Laura Raiti; Christopher Richmond; Angelika Rieß; Eva M.C. Schwaibold; Marleen E.H. Simon; Stephanie Spranger; Tiong Yang Tan; Michelle L. Thompson; Bert B.A. de Vries; Ella J. Wilkins; Marjolein H. Willemsen; Clyde Francks; Lisenka E.L.M. Vissers; Simon E. Fisher; Tjitske Kleefstra
Genetics in Medicine, 24, 6, pp. 1283-1296
Genetics in Medicine
Genetics in Medicine
Academic Journal
Yuyang Chen; Ruebena Dawes; Hyung Chul Kim; Sarah L Stenton; Susan Walker; Alicia Ljungdahl; Jenny Lord; Vijay S Ganesh; Jialan Ma; Alexandra C Martin-Geary; Gabrielle Lemire; Elston N D’Souza; Shan Dong; Jamie M Ellingford; David R Adams; Kirsten Allan; Madhura Bakshi; Erin E Baldwin; Seth I Berger; Jonathan A Bernstein; Natasha J Brown; Lindsay C Burrage; Kimberly Chapman; Alison G Compton; Chloe A Cunningham; Precilla D’Souza; Emmanuèle C Délot; Kerith-Rae Dias; Ellen R Elias; Carey-Anne Evans; Lisa Ewans; Kimberly Ezell; Jamie L Fraser; Lyndon Gallacher; Casie A Genetti; Christina L Grant; Tobias Haack; Alma Kuechler; Seema R Lalani; Elsa Leitão; Anna Le Fevre; Richard J Leventer; Jan E Liebelt; Paul J Lockhart; Alan S Ma; Ellen F Macnamara; Taylor M Maurer; Hector R Mendez; Stephen B Montgomery; Marie-Cécile Nassogne; Serena Neumann; Melanie O’Leary; Elizabeth E Palmer; John Phillips; Georgia Pitsava; Ryan Pysar; Heidi L Rehm; Chloe M Reuter; Nicole Revencu; Angelika Riess; Rocio Rius; Lance Rodan; Tony Roscioli; Jill A Rosenfeld; Rani Sachdev; Cas Simons; Sanjay M Sisodiya; Penny Snell; Laura St Clair; Zornitza Stark; Tiong Yang Tan; Natalie B Tan; Suzanna EL Temple; David R Thorburn; Cynthia J Tifft; Eloise Uebergang; Grace E VanNoy; Eric Vilain; David H Viskochil; Laura Wedd; Matthew T Wheeler; Susan M White; Monica Wojcik; Lynne A Wolfe; Zoe Wolfenson; Changrui Xiao; David Zocche; John L Rubenstein; Eirene Markenscoff-Papadimitriou; Sebastian M Fica; Diana Baralle; Christel Depienne; Daniel G MacArthur; Joanna MM Howson; Stephan J Sanders; Anne O’Donnell-Luria; Nicola Whiffin
medRxiv
Chen, Y, Dawes, R, Kim, H C, Stenton, S L, Walker, S, Ljungdahl, A, Lord, J, Ganesh, V S, Ma, J, Martin-Geary, A C, Lemire, G, D'Souza, E N, Dong, S, Ellingford, J M, Adams, D R, Allan, K, Bakshi, M, Baldwin, E E, Berger, S I, Bernstein, J A, Brown, N J, Burrage, L C, Chapman, K, Compton, A G, Cunningham, C A, D'Souza, P, Délot, E C, Dias, K-R, Elias, E R, Evans, C-A, Ewans, L, Ezell, K, Fraser, J L, Gallacher, L, Genetti, C A, Grant, C L, Haack, T, Kuechler, A, Lalani, S R, Leitão, E, Fevre, A L, Leventer, R J, Liebelt, J E, Lockhart, P J, Ma, A S, Macnamara, E F, Maurer, T M, Mendez, H R, Montgomery, S B, Nassogne, M-C, Neumann, S, O'Leary, M, Palmer, E E, Phillips, J, Pitsava, G, Pysar, R, Rehm, H L, Reuter, C M, Revencu, N, Riess, A, Rius, R, Rodan, L, Roscioli, T, Rosenfeld, J A, Sachdev, R, Simons, C, Sisodiya, S M, Snell, P, Clair, L S, Stark, Z, Tan, T Y, Tan, N B, Temple, S E, Thorburn, D R, Tifft, C J, Uebergang, E, VanNoy, G E, Vilain, E, Viskochil, D H, Wedd, L, Wheeler, M T, White, S M, Wojcik, M, Wolfe, L A, Wolfenson, Z, Xiao, C, Zocche, D, Rubenstein, J L, Markenscoff-Papadimitriou, E, Fica, S M, Baralle, D, Depienne, C, MacArthur, D G, Howson, J M, Sanders, S J, O'Donnell-Luria, A & Whiffin, N 2024, 'De novo variants in the non-coding spliceosomal snRNA gene RNU4-2 are a frequent cause of syndromic neurodevelopmental disorders.', medRxiv. https://doi.org/10.1101/2024.04.07.24305438
Chen, Y, Dawes, R, Kim, H C, Stenton, S L, Walker, S, Ljungdahl, A, Lord, J, Ganesh, V S, Ma, J, Martin-Geary, A C, Lemire, G, D'Souza, E N, Dong, S, Ellingford, J M, Adams, D R, Allan, K, Bakshi, M, Baldwin, E E, Berger, S I, Bernstein, J A, Brown, N J, Burrage, L C, Chapman, K, Compton, A G, Cunningham, C A, D'Souza, P, Délot, E C, Dias, K-R, Elias, E R, Evans, C-A, Ewans, L, Ezell, K, Fraser, J L, Gallacher, L, Genetti, C A, Grant, C L, Haack, T, Kuechler, A, Lalani, S R, Leitão, E, Fevre, A L, Leventer, R J, Liebelt, J E, Lockhart, P J, Ma, A S, Macnamara, E F, Maurer, T M, Mendez, H R, Montgomery, S B, Nassogne, M-C, Neumann, S, O'Leary, M, Palmer, E E, Phillips, J, Pitsava, G, Pysar, R, Rehm, H L, Reuter, C M, Revencu, N, Riess, A, Rius, R, Rodan, L, Roscioli, T, Rosenfeld, J A, Sachdev, R, Simons, C, Sisodiya, S M, Snell, P, Clair, L S, Stark, Z, Tan, T Y, Tan, N B, Temple, S E, Thorburn, D R, Tifft, C J, Uebergang, E, VanNoy, G E, Vilain, E, Viskochil, D H, Wedd, L, Wheeler, M T, White, S M, Wojcik, M, Wolfe, L A, Wolfenson, Z, Xiao, C, Zocche, D, Rubenstein, J L, Markenscoff-Papadimitriou, E, Fica, S M, Baralle, D, Depienne, C, MacArthur, D G, Howson, J M, Sanders, S J, O'Donnell-Luria, A & Whiffin, N 2024, 'De novo variants in the non-coding spliceosomal snRNA gene RNU4-2 are a frequent cause of syndromic neurodevelopmental disorders.', medRxiv. https://doi.org/10.1101/2024.04.07.24305438
Academic Journal
Andreas Dufke; Markus Hoopmann; Stephan Waldmüller; Natalia Carmen Prodan; Stefanie Beck‐Wödl; Ute Grasshoff; Tilman Heinrich; Angelika Riess; Martin Kehrer; Ruth J. Falb; Alexandra Liebmann; Cristiana Roggia; Miriam Stampfer; Malou Schadeck; Amelie J. Müller; Mona Grimmel; Petra Stöbe; Darja Gauck; Rebecca Buchert‐Lo; Sarah Baumann; Karin Schäferhoff; Miriam Bertrand; Benita Menden; Marc Sturm; Leon Schütz; Olaf Riess; Stephan Ossowski; Tobias B. Haack; Karl Oliver Kagan
Prenatal Diagnosis. 42:901-910
Growth, development, and phenotypic spectrum of individuals with deletions of 2q33.1 involving SATB2
Academic Journal
Yuri A. Zarate; Katherine A. Bosanko; Mary Ann Thomas; David T. Miller; Kristina Cusmano‐Ozog; Antonio Martinez‐Monseny; Cynthia J. Curry; John M. Graham; Lea Velsher; Mir Reza Bekheirnia; Veronica Seidel; Demitrios Dedousis; Anna L. Mitchell; Amy M. DiMarino; Angelika Riess; Meena Balasubramanian; Jennifer L. Fish; Aisling R. Caffrey; Nicole Fleischer; Tyler Mark Pierson; Ronald V. Lacro
CLINICAL GENETICS
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname
Academic Journal
Wisam Habhab; Ulrike Mau‐Holzmann; Sylke Singer; Angelika Rieß; Karl‐Oliver Kagan; Ines Gerbig; Karin Schäferhoff; Andreas Dufke; Martin Kehrer
American Journal of Medical Genetics Part A. 182:2680-2684
Academic Journal
Tawfiq Froukh; Omar Nafie; Sana' A. S. Al Hait; Lucia Laugwitz; Julia Sommerfeld; Marc Sturm; Aya Baraghiti; Tala Issa; Anis Al‐Nazer; Philipp A. Koch; Johannes Hanselmann; Beate Kootz; Peter Bauer; Wael Al‐Ameri; Rami Abou Jamra; Ayman J. Alfrook; Moath Hamadallah; Linda Sofan; Angelika Riess; Tobias B. Haack; Olaf Riess; Rebecca Buchert
Clinical Genetics. 97:621-627
Academic Journal
Anne H. O’Donnell-Luria; Lynn S. Pais; Víctor Faundes; Jordan C. Wood; Abigail Sveden; Victor Luria; Rami Abou Jamra; Andrea Accogli; Kimberly Amburgey; Britt Marie Anderlid; Silvia Azzarello-Burri; Alice A. Basinger; Claudia Bianchini; Lynne M. Bird; Rebecca Buchert; Wilfrid Carre; Sophia Ceulemans; Perrine Charles; Helen Cox; Lisa Culliton; Aurora Currò; Florence Demurger; James J. Dowling; Benedicte Duban-Bedu; Christèle Dubourg; Saga Elise Eiset; Luis F. Escobar; Alessandra Ferrarini; Tobias B. Haack; Mona Hashim; Solveig Heide; Katherine L. Helbig; Ingo Helbig; Raul Heredia; Delphine Héron; Bertrand Isidor; Amy R. Jonasson; Pascal Joset; Boris Keren; Fernando Kok; Hester Y. Kroes; Alinoë Lavillaureix; Xin Lu; Saskia M. Maas; Gustavo H.B. Maegawa; Carlo L.M. Marcelis; Paul R. Mark; Marcelo R. Masruha; Heather M. McLaughlin; Kirsty McWalter; Esther U. Melchinger; Saadet Mercimek-Andrews; Caroline Nava; Manuela Pendziwiat; Richard Person; Gian Paolo Ramelli; Luiza L.P. Ramos; Anita Rauch; Caitlin Reavey; Alessandra Renieri; Angelika Rieß; Amarilis Sanchez-Valle; Shifteh Sattar; Carol Saunders; Niklas Schwarz; Thomas Smol; Myriam Srour; Katharina Steindl; Steffen Syrbe; Jenny C. Taylor; Aida Telegrafi; Isabelle Thiffault; Doris A. Trauner; Helio van der Linden; Silvana van Koningsbruggen; Laurent Villard; Ida Vogel; Julie Vogt; Yvonne G. Weber; Ingrid M. Wentzensen; Elysa Widjaja; Jaroslav Zak; Samantha Baxter; Siddharth Banka; Lance H. Rodan; Jeremy F. McRae; Stephen Clayton; Tomas W. Fitzgerald; Joanna Kaplanis; Elena Prigmore; Diana Rajan; Alejandro Sifrim; Stuart Aitken; Nadia Akawi; Mohsan Alvi; Kirsty Ambridge; Daniel M. Barrett; Tanya Bayzetinova; Philip Jones; Wendy D. Jones; Daniel King; Netravathi Krishnappa; Laura E. Mason; Tarjinder Singh; Adrian R. Tivey; Munaza Ahmed; Uruj Anjum; Hayley Archer; Ruth Armstrong; Jana Awada; Meena Balasubramanian; Diana Baralle; Angela Barnicoat; Paul Batstone; David Baty; Chris Bennett; Jonathan Berg; Birgitta Bernhard; A. Paul Bevan; Maria Bitner-Glindzicz; Edward Blair; Moira Blyth; David Bohanna; Louise Bourdon; David Bourn; Lisa Bradley; Angela Brady; Simon Brent; Carole Brewer; Kate Brunstrom; David J. Bunyan; John Burn; Natalie Canham; Bruce Castle; Kate Chandler; Elena Chatzimichali; Deirdre Cilliers; Angus Clarke; Susan Clasper; Jill Clayton-Smith; Virginia Clowes; Andrea Coates; Trevor Cole; Irina Colgiu; Amanda Collins; Morag N. Collinson; Fiona Connell; Nicola Cooper; Lara Cresswell; Gareth Cross; Yanick Crow; Mariella D’Alessandro; Tabib Dabir; Rosemarie Davidson; Sally Davies; Dylan de Vries; John Dean; Charu Deshpande; Gemma Devlin; Abhijit Dixit; Angus Dobbie; Alan Donaldson; Dian Donnai; Deirdre Donnelly; Carina Donnelly; Angela Douglas; Sofia Douzgou; Alexis Duncan; Jacqueline Eason; Sian Ellard; Ian Ellis; Frances Elmslie; Karenza Evans; Sarah Everest; Tina Fendick; Richard Fisher; Frances Flinter; Nicola Foulds; Andrew Fry; Alan Fryer; Carol Gardiner; Lorraine Gaunt; Neeti Ghali; Richard Gibbons; Harinder Gill; Judith Goodship; David Goudie; Emma Gray; Andrew Green; Philip Greene; Lynn Greenhalgh; Susan Gribble; Rachel Harrison; Lucy Harrison; Victoria Harrison; Rose Hawkins; Liu He; Stephen Hellens; Alex Henderson; Sarah Hewitt; Lucy Hildyard; Emma Hobson; Simon Holden; Muriel Holder; Susan Holder; Georgina Hollingsworth; Tessa Homfray; Mervyn Humphreys; Jane Hurst; Ben Hutton; Stuart Ingram; Melita Irving; Lily Islam; Andrew Jackson; Joanna Jarvis; Lucy Jenkins; Diana Johnson; Elizabeth Jones; Dragana Josifova; Shelagh Joss; Beckie Kaemba; Sandra Kazembe; Rosemary Kelsell; Bronwyn Kerr; Helen Kingston; Usha Kini; Esther Kinning; Gail Kirby; Claire Kirk; Emma Kivuva; Alison Kraus; Dhavendra Kumar; V. K. Ajith Kumar; Katherine Lachlan; Wayne Lam; Anne Lampe; Caroline Langman; Melissa Lees; Derek Lim; Cheryl Longman; Gordon Lowther; Sally A. Lynch; Alex Magee; Eddy Maher; Alison Male; Sahar Mansour; Karen Marks; Katherine Martin; Una Maye; Emma McCann; Vivienne McConnell; Meriel McEntagart; Ruth McGowan; Kirsten McKay; Shane McKee; Dominic J. McMullan; Susan McNerlan; Catherine McWilliam; Sarju Mehta; Kay Metcalfe; Anna Middleton; Zosia Miedzybrodzka; Emma Miles; Shehla Mohammed; Tara Montgomery; David Moore; Sian Morgan; Jenny Morton; Hood Mugalaasi; Victoria Murday; Helen Murphy; Swati Naik; Andrea Nemeth; Louise Nevitt; Ruth Newbury-Ecob; Andrew Norman; Rosie O’Shea; Caroline Ogilvie; Kai-Ren Ong; Soo-Mi Park; Michael J. Parker; Chirag Patel; Joan Paterson; Stewart Payne; Daniel Perrett; Julie Phipps; Daniela T. Pilz; Martin Pollard; Caroline Pottinger; Joanna Poulton; Norman Pratt; Katrina Prescott; Sue Price; Abigail Pridham; Annie Procter; Hellen Purnell; Oliver Quarrell; Nicola Ragge; Raheleh Rahbari; Josh Randall; Julia Rankin; Lucy Raymond; Debbie Rice; Leema Robert; Eileen Roberts; Jonathan Roberts; Paul Roberts; Gillian Roberts; Alison Ross; Elisabeth Rosser; Anand Saggar; Shalaka Samant; Julian Sampson; Richard Sandford; Ajoy Sarkar; Susann Schweiger; Richard Scott; Ingrid Scurr; Ann Selby; Anneke Seller; Cheryl Sequeira; Nora Shannon; Saba Sharif; Charles Shaw-Smith; Emma Shearing; Debbie Shears; Eamonn Sheridan; Ingrid Simonic; Roldan Singzon; Zara Skitt; Audrey Smith; Kath Smith; Sarah Smithson; Linda Sneddon; Miranda Splitt; Miranda Squires; Fiona Stewart; Helen Stewart; Volker Straub; Mohnish Suri; Vivienne Sutton; Ganesh Jawahar Swaminathan; Elizabeth Sweeney; Kate Tatton-Brown; Cat Taylor; Rohan Taylor; Mark Tein; I. Karen Temple; Jenny Thomson; Marc Tischkowitz; Susan Tomkins; Audrey Torokwa; Becky Treacy; Claire Turner; Peter Turnpenny; Carolyn Tysoe; Anthony Vandersteen; Vinod Varghese; Pradeep Vasudevan; Parthiban Vijayarangakannan; Emma Wakeling; Sarah Wallwark; Jonathon Waters; Astrid Weber; Diana Wellesley; Margo Whiteford; Sara Widaa; Sarah Wilcox; Emily Wilkinson; Denise Williams; Nicola Williams; Louise Wilson; Geoff Woods; Christopher Wragg; Michael Wright; Laura Yates; Michael Yau; Chris Nellåker; Michael Parker; Helen V. Firth; Caroline F. Wright; David R. FitzPatrick; Jeffrey C. Barrett; Matthew E. Hurles
American Journal of Human Genetics, 104, 6, pp. 1210-1222
Deciphering Developmental Disorders (DDD) Study 2019, 'Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy', American Journal of Human Genetics, vol. 104, no. 6, pp. 1210-1222. https://doi.org/10.1016/j.ajhg.2019.03.021
Deciphering Developmental Disorders (DDD) Study 2019 'Heterozygous variants in KMT2E cause a spectrum of neurodevelopmental disorders and epilepsy' BioRxiv, Cold Spring Harbor Laboratory Press. https://doi.org/10.1101/566091
O'Donnell-Luria, A H, Pais, L S, Faundes, V, Wood, J C, Sveden, A, Luria, V, Abou Jamra, R, Accogli, A, Amburgey, K, Anderlid, B M, Azzarello-Burri, S, Basinger, A A, Bianchini, C, Bird, L M, Buchert, R, Carre, W, Ceulemans, S, Charles, P, Cox, H, Culliton, L, Currò, A, Deciphering Developmental Disorders (DDD) Study, Demurger, F, Dowling, J J, Duban-Bedu, B, Dubourg, C, Eiset, S E, Escobar, L F, Ferrarini, A, Haack, T B, Hashim, M, Heide, S, Helbig, K L, Helbig, I, Heredia, R, Héron, D, Isidor, B, Jonasson, A R, Joset, P, Keren, B, Kok, F, Kroes, H, Lavillaureix, A, Lu, X, Maass, S, Maegawa, G H B, Marcelis, C M, Mark, P, Masruha, M, McLaughlin, H, McWalter, K, Melchinger, E, Mercimek-Andrews, S, Nava, C, Pendziwiat, M, Person, R, Ramelli, G P, Ramos, L, Rauch, A, Reavey, C, Renieri, A, Rieß, A, Sanchez-Valle, A, Sattar, S, Saunders, C, Schwarz, N, Smol, T, Srour, M, Steindl, K, Syrbe, S, Taylor, J C, Telegrafi, A, Thiffault, I, Trauner, D, van der Linden Jr., H, van Koningsbruggen, S, Vilard, L, Vogel, I, Vogt, J, Weber, Y G, Wentzensen, I, Widjaja, E, Zak, J, Baxter, S, Banka, S & Rodan, L H 2019, 'Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy', American Journal of Human Genetics, vol. 104, no. 6, pp. 1210-1222. https://doi.org/10.1016/j.ajhg.2019.03.021
Deciphering Developmental Disorders (DDD) Study 2019, 'Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy', American Journal of Human Genetics, vol. 104, no. 6, pp. 1210-1222. https://doi.org/10.1016/j.ajhg.2019.03.021
Deciphering Developmental Disorders (DDD) Study 2019 'Heterozygous variants in KMT2E cause a spectrum of neurodevelopmental disorders and epilepsy' BioRxiv, Cold Spring Harbor Laboratory Press. https://doi.org/10.1101/566091
O'Donnell-Luria, A H, Pais, L S, Faundes, V, Wood, J C, Sveden, A, Luria, V, Abou Jamra, R, Accogli, A, Amburgey, K, Anderlid, B M, Azzarello-Burri, S, Basinger, A A, Bianchini, C, Bird, L M, Buchert, R, Carre, W, Ceulemans, S, Charles, P, Cox, H, Culliton, L, Currò, A, Deciphering Developmental Disorders (DDD) Study, Demurger, F, Dowling, J J, Duban-Bedu, B, Dubourg, C, Eiset, S E, Escobar, L F, Ferrarini, A, Haack, T B, Hashim, M, Heide, S, Helbig, K L, Helbig, I, Heredia, R, Héron, D, Isidor, B, Jonasson, A R, Joset, P, Keren, B, Kok, F, Kroes, H, Lavillaureix, A, Lu, X, Maass, S, Maegawa, G H B, Marcelis, C M, Mark, P, Masruha, M, McLaughlin, H, McWalter, K, Melchinger, E, Mercimek-Andrews, S, Nava, C, Pendziwiat, M, Person, R, Ramelli, G P, Ramos, L, Rauch, A, Reavey, C, Renieri, A, Rieß, A, Sanchez-Valle, A, Sattar, S, Saunders, C, Schwarz, N, Smol, T, Srour, M, Steindl, K, Syrbe, S, Taylor, J C, Telegrafi, A, Thiffault, I, Trauner, D, van der Linden Jr., H, van Koningsbruggen, S, Vilard, L, Vogel, I, Vogt, J, Weber, Y G, Wentzensen, I, Widjaja, E, Zak, J, Baxter, S, Banka, S & Rodan, L H 2019, 'Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy', American Journal of Human Genetics, vol. 104, no. 6, pp. 1210-1222. https://doi.org/10.1016/j.ajhg.2019.03.021
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UCrea Repositorio Abierto de la Universidad de Cantabria
Universidad de Cantabria (UC)
Biological Psychiatry, 85, 4, pp. 287-297
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[AR] Angelika Riess
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