학술논문
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'학술논문'
에서 검색결과 889건 | 목록
1~20
Academic Journal
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)
Academic Journal
Avinash V. Dharmadhikari; Maria Alba Abad; Sheraz Khan; Reza Maroofian; Tristan T. Sands; Farid Ullah; Itaru Samejima; Yanwen Shen; Martin A. Wear; Kiara E. Moore; Elena Kondakova; Natalia Mitina; Theres Schaub; Grace K. Lee; Christine H. Umandap; Sara M. Berger; Alejandro D. Iglesias; Bernt Popp; Rami Abou Jamra; Heinz Gabriel; Stefan Rentas; Alyssa L. Rippert; Christopher Gray; Kosuke Izumi; Laura K. Conlin; Daniel C. Koboldt; Theresa Mihalic Mosher; Scott E. Hickey; Dara V. F. Albert; Haley Norwood; Amy Feldman Lewanda; Hongzheng Dai; Pengfei Liu; Tadahiro Mitani; Dana Marafi; Hatice Koçak Eker; Davut Pehlivan; Jennifer E. Posey; Natalie C. Lippa; Natalie Vena; Erin L. Heinzen; David B. Goldstein; Cyril Mignot; Jean-Madeleine de Sainte Agathe; Nouriya Abbas Al-Sannaa; Mina Zamani; Saeid Sadeghian; Reza Azizimalamiri; Tahere Seifia; Maha S. Zaki; Ghada M. H. Abdel-Salam; Mohamed S. Abdel-Hamid; Lama Alabdi; Fowzan Sami Alkuraya; Heba Dawoud; Aya Lofty; Peter Bauer; Giovanni Zifarelli; Erum Afzal; Faisal Zafar; Stephanie Efthymiou; Daniel Gossett; Meghan C. Towne; Raey Yeneabat; Belen Perez-Duenas; Ana Cazurro-Gutierrez; Edgard Verdura; Veronica Cantarin-Extremera; Ana do Vale Marques; Aleksandra Helwak; David Tollervey; Sandeep N. Wontakal; Vimla S. Aggarwal; Jill A. Rosenfeld; Victor Tarabykin; Shinya Ohta; James R. Lupski; Henry Houlden; William C. Earnshaw; Erica E. Davis; A. Arockia Jeyaprakash; Jun Liao
Nature Communications, Vol 16, Iss 1, Pp 1-24 (2025)
Academic Journal
Akiko Soneda Hashimoto; Jianshi Yu; Christina Williams; Karin Gaudenz; Parisa Varshosaz; Ruonan Zhao; Nageswara Pilli; Tian Liu; Jonathon Russell; Rebecca S. Tooze; Stephen R.F. Twigg; Siddharth Banka; Elizabeth Sweeney; Simon J. McGowan; Samantha J.L. Knight; Jenny C. Taylor; Tawfiq Jamal Froukh; M. Irene Valenzuela Palafoll; Núria Martínez-Gil; Mar Costa-Roger; Maria Teresa Villarreal-Molina; Esther Lieberman Hernandez; Rami Abou Jamra; Felix Gattermann; Margarete Koch-Hogrebe; Dagmar Wieczorek; Paul A. Trainor; Alexander R. Moise; Andrew O.M. Wilkie; Maureen A. Kane
Genetics in Medicine Open, Vol 3, Iss , Pp 103427- (2025)
Academic Journal
Sissy Bassani; Jacqueline Chrast; Giovanna Ambrosini; Norine Voisin; Frédéric Schütz; Alfredo Brusco; Fabio Sirchia; Lydia Turban; Susanna Schubert; Rami Abou Jamra; Jan-Ulrich Schlump; Desiree DeMille; Pinar Bayrak-Toydemir; Gary Rex Nelson; Kristen Nicole Wong; Laura Duncan; Mackenzie Mosera; Christian Gilissen; Lisenka E. L. M. Vissers; Rolph Pfundt; Rogier Kersseboom; Hilde Yttervik; Geir Åsmund Myge Hansen; Marie Falkenberg Smeland; Kameryn M. Butler; Michael J. Lyons; Claudia M. B. Carvalho; Chaofan Zhang; James R. Lupski; Lorraine Potocki; Leticia Flores-Gallegos; Rodrigo Morales-Toquero; Florence Petit; Binnaz Yalcin; Annabelle Tuttle; Houda Zghal Elloumi; Lane McCormick; Mary Kukolich; Oliver Klaas; Judit Horvath; Marcello Scala; Michele Iacomino; Francesca Operto; Federico Zara; Karin Writzl; Aleš Maver; Maria K. Haanpää; Pia Pohjola; Harri Arikka; Anneke J. A. Kievit; Camilla Calandrini; Christian Iseli; Nicolas Guex; Alexandre Reymond
Genome Medicine, Vol 16, Iss 1, Pp 1-18 (2024)
Academic Journal
Mittendorf, L.; Schulz, M.; Stoltze, A.; Stein, R.; Starke, S.; Abou Jamra, R.; Körner, A.; Pfäffle, R.; Kiess, W.
Monatsschrift Kinderheilkunde: Zeitschrift für Kinder- und Jugendmedizin. 173(3):234-241
Academic Journal
O'Donnell-Luria, AH; Pais, LS; Faundes, V; Wood, JC; Sveden, A; Luria, V; Abou, Jamra R; Accogli, A; Amburgey, K; Anderlid, BM
AMERICAN JOURNAL OF HUMAN GENETICS. 104(6):1210-1222
Conference
2014 IEEE PES Asia-Pacific Power and Energy Engineering Conference (APPEEC) Power and Energy Engineering Conference (APPEEC), 2014 IEEE PES Asia-Pacific. :1-5 Dec, 2014
Conference
2013 IEEE International Conference of IEEE Region 10 (TENCON 2013) TENCON 2013 - 2013 IEEE Region 10 Conference (31194). :1-5 Oct, 2013
Academic Journal
Marek B. Körner; Akhil Velluva; Linnaeus Bundalian; Maximilian Radtke; Chen-Ching Lin; Pia Zacher; Tobias Bartolomaeus; Anna S. Kirstein; Achmed Mrestani; Nicole Scholz; Konrad Platzer; Anne-Christin Teichmann; Julia Hentschel; Tobias Langenhan; Johannes R. Lemke; Antje Garten; Rami Abou Jamra; Diana Le Duc
Scientific Reports, Vol 12, Iss 1, Pp 1-10 (2022)
Academic Journal
Thormeyer, V.; Meyer, Z.; Polster, T.; Borggraefe, I.; Wallacher, B.; Korenke, G. C.; Catenoix, H.; Panagiotakaki, E.; Wolff, M.; Kluger, G.; Hartlieb, T.; Anke, B.; Leiz, S.; Abou Jamra, R.; Lesca, G.; Kaindl, A.; Schwarz, J. M.; Strehlow, V.; Stoeva, R.; Garde, A.; Faivre, L.; Racine, C.; Schlump, J. U.; Zacher, P.; Latour, P.; Panzer, A.
Academic Journal
Akhil Velluva; Maximillian Radtke; Susanne Horn; Bernt Popp; Konrad Platzer; Erind Gjermeni; Chen-Ching Lin; Johannes R. Lemke; Antje Garten; Torsten Schöneberg; Matthias Blüher; Rami Abou Jamra; Diana Le Duc
BMC Genomics, Vol 22, Iss 1, Pp 1-9 (2021)
Academic Journal
Davor Lessel; Daniela M. Zeitler; Margot R. F. Reijnders; Andriy Kazantsev; Fatemeh Hassani Nia; Alexander Bartholomäus; Victoria Martens; Astrid Bruckmann; Veronika Graus; Allyn McConkie-Rosell; Marie McDonald; Bernarda Lozic; Ee-Shien Tan; Erica Gerkes; Jessika Johannsen; Jonas Denecke; Aida Telegrafi; Evelien Zonneveld-Huijssoon; Henny H. Lemmink; Breana W. M. Cham; Tanja Kovacevic; Linda Ramsdell; Kimberly Foss; Diana Le Duc; Diana Mitter; Steffen Syrbe; Andreas Merkenschlager; Margje Sinnema; Bianca Panis; Joanna Lazier; Matthew Osmond; Taila Hartley; Jeremie Mortreux; Tiffany Busa; Chantal Missirian; Pankaj Prasun; Sabine Lüttgen; Ilaria Mannucci; Ivana Lessel; Claudia Schob; Stefan Kindler; John Pappas; Rachel Rabin; Marjolein Willemsen; Thatjana Gardeitchik; Katharina Löhner; Patrick Rump; Kerith-Rae Dias; Carey-Anne Evans; Peter Ian Andrews; Tony Roscioli; Han G. Brunner; Chieko Chijiwa; M. E. Suzanne Lewis; Rami Abou Jamra; David A. Dyment; Kym M. Boycott; Alexander P. A. Stegmann; Christian Kubisch; Ene-Choo Tan; Ghayda M. Mirzaa; Kirsty McWalter; Tjitske Kleefstra; Rolph Pfundt; Zoya Ignatova; Gunter Meister; Hans-Jürgen Kreienkamp
Nature Communications, Vol 11, Iss 1, Pp 1-14 (2020)
Academic Journal
Dana Marafi; Tadahiro Mitani; Sedat Isikay; Jozef Hertecant; Mohammed Almannai; Kandamurugu Manickam; Rami Abou Jamra; Ayman W. El‐Hattab; Jaishen Rajah; Jawid M. Fatih; Haowei Du; Ender Karaca; Yavuz Bayram; Jaya Punetha; Jill A. Rosenfeld; Shalini N. Jhangiani; Eric Boerwinkle; Zeynep C. Akdemir; Serkan Erdin; Jill V. Hunter; Richard A. Gibbs; Davut Pehlivan; Jennifer E. Posey; James R. Lupski
Annals of Clinical and Translational Neurology, Vol 7, Iss 5, Pp 610-627 (2020)
Academic Journal
Aghakhanyan G.; Saur D.; Rullmann M.; Weise C. M.; Schroeter M. L.; Marek K.; Jamra R. A.; Tiepolt S.; Strauss M.; Scherlach C.; Hoffmann K. -T.; Sabri O.; Classen J.; Barthel H.
Current Alzheimer Research. 18:178-184
Conference
Brugger M; Lauri A; Zhen Y; Gramegna LL; Zott B; Sekulic N; Fasano G; Kopajtich R; Cordeddu V; Radio FC; Mancini C; Pizzi S; Paradisi G; Zanni G; Vasco G; Carrozzo R; Palombo F; Tonon C; Lodi R; La Morgia C; Arelin L; Blechschmidt C; Finck T; Sorensen V; Kreiser K; Strobl-Wildemann G; Daum H; Michaelson-Cohen R; Ziccardi L; Zampino G; Prokisch H; Abou Jamra R; Fiorini C; Arzberger T; Winkelmann J; Caporali L; Carelli V; Stenmark H; Tartaglia M; Wagner M
Academic Journal
Lauretta El Hayek; Islam Oguz Tuncay; Nadine Nijem; Jamie Russell; Sara Ludwig; Kiran Kaur; Xiaohong Li; Priscilla Anderton; Miao Tang; Amanda Gerard; Anja Heinze; Pia Zacher; Hessa S Alsaif; Aboulfazl Rad; Kazem Hassanpour; Mohammad Reza Abbaszadegan; Camerun Washington; Barbara R DuPont; Raymond J Louie; CAUSES Study; Madeline Couse; Maha Faden; R Curtis Rogers; Rami Abou Jamra; Ellen R Elias; Reza Maroofian; Henry Houlden; Anna Lehman; Bruce Beutler; Maria H Chahrour
eLife, Vol 9 (2020)
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, AbouJamra , 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
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O'Donnell-Luria, A H, Pais, L S, Faundes, V, Wood, J C, Sveden, A, Luria, V, Abou
Academic Journal
Low KJ; Ansari M; Abou Jamra R; Clarke A; El Chehadeh S; Fitzpatrick DR; Greenslade M; Henderson A; Hurst J; Keller K; Kuentz P; Prescott T; Roessler F; Selmer KK; Schneider MC; Stewart F; Tatton-Brown K; Thevenon J; Vigeland MD; Vogt J; Willems M; Zonana J; Study DDD; Smithson SF
Eur J Hum Genet
Low, K J, Ansari, M, AbouJamra , R , Clarke, A, El Chehadeh, S, FitzPatrick, D R , Greenslade, M, Henderson, A, Hurst, J, Keller, K, Kuentz, P, Prescott, T, Roessler, F, Selmer, K K, Schneider, M C, Stewart, F, Tatton-Brown, K, Thevenon, J, Vigeland, M D, Vogt, J, Willems, M, Zonana, J, Study, D D D & Smithson, S F 2017, ' PUF60 variants cause a syndrome of ID, short stature, microcephaly, coloboma, craniofacial, cardiac, renal and spinal features ', European Journal of Human Genetics, vol. 25, no. 5, pp. 552-559 . https://doi.org/10.1038/ejhg.2017.27
Low, K J, Ansari, M, Abou
Academic Journal
Körner, M.; Velluva, A.; https://orcid.org/0000-0003-0859-3624; Bundalian, L.; Radtke, M.; Lin, C.; Zacher, P.; Bartolomaeus, T.; Kirstein, A.; Mrestani, A.; Scholz, N.; Platzer, K.; Teichmann, A.; Hentschel, J.; Langenhan, T.; Lemke, J.; Garten, A.; Abou Jamra, R.; Le Duc, D.; https://orcid.org/0000-0001-7289-2552
Sci Rep
Scientific Reports, Vol 12, Iss 1, Pp 1-10 (2022)
Scientific Reports
Scientific Reports, Vol 12, Iss 1, Pp 1-10 (2022)
Scientific Reports
Academic Journal
Chopra, M.; McEntagart, M.; Clayton-Smith, J.; Platzer, K.; Shukla, A.; Girisha, K.M.; Kaur, A.; Kaur, P.; Pfundt, R.; Veenstra-Knol, H.; Mancini, G.M.S.; Cappuccio, G.; Brunetti-Pierri, N.; Kortum, F.; Hempel, M.; Denecke, J.; Lehman, A.; Kleefstra, T.; Stuurman, K.E.; Wilke, M.; Thompson, M.L.; Bebin, E.M.; Bijlsma, E.K.; Hoffer, M.J.V.; Peeters-Scholte, C.; Slavotinek, A.; Weiss, W.A.; Yip, T.; Hodoglugil, U.; Whittle, A.; Monda, J.; Neira, J.; Yang, S.; Kirby, A.; Pinz, H.; Lechner, R.; Sleutels, F.; Helbig, I.; McKeown, S.; Helbig, K.; Willaert, R.; Juusola, J.; Semotok, J.; Hadonou, M.; Short, J.; Yachelevich, N.; Lala, S.; Fernandez-Jaen, A.; Pelayo, J.P.; Klockner, C.; Kamphausen, S.B.; Abou Jamra, R.; Arelin, M.; Innes, A.M.; Niskakoski, A.; Amin, S.; Williams, M.; Evans, J.; Smithson, S.; Smedley, D.; Burca, A.; Kini, U.; Delatycki, M.B.; Gallacher, L.; Yeung, A.; Pais, L.; Field, M.; Martin, E.; Charles, P.; Courtin, T.; Keren, B.; Iascone, M.; Cereda, A.; Poke, G.; Abadie, V.; Chalouhi, C.; Parthasarathy, P.; Halliday, B.J.; Robertson, S.P.; Lyonnet, S.; Amiel, J.; Gordon, C.T.; CAUSES Study; Genomics England Res Consortium
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