학술논문
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공정이용 지침
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'학술논문'
에서 검색결과 36건 | 목록
1~20
Academic Journal
Andrew T. Timberlake; Casey Griffin; Carrie L. Heike; Anne V. Hing; Michael L. Cunningham; David Chitayat; Mark R. Davis; Soghra J. Doust; Amelia F. Drake; Milagros M. Duenas-Roque; Jack Goldblatt; Jonas A. Gustafson; Paula Hurtado-Villa; Alexis Johns; Natalya Karp; Nigel G. Laing; Leanne Magee; University of Washington Center for Mendelian Genomics; Sureni V. Mullegama; Harry Pachajoa; Gloria L. Porras-Hurtado; Rhonda E. Schnur; Jennie Slee; Steven L. Singer; David A. Staffenberg; Andrew E. Timms; Cheryl A. Wise; Ignacio Zarante; Jean-Pierre Saint-Jeannet; Daniela V. Luquetti
Nature Communications, Vol 12, Iss 1, Pp 1-11 (2021)
Academic Journal
Lot Snijders Blok; Justine Rousseau; Joanna Twist; Sophie Ehresmann; Motoki Takaku; Hanka Venselaar; Lance H. Rodan; Catherine B. Nowak; Jessica Douglas; Kathryn J. Swoboda; Marcie A. Steeves; Inderneel Sahai; Connie T. R. M. Stumpel; Alexander P. A. Stegmann; Patricia Wheeler; Marcia Willing; Elise Fiala; Aaina Kochhar; William T. Gibson; Ana S. A. Cohen; Ruky Agbahovbe; A. Micheil Innes; P. Y. Billie Au; Julia Rankin; Ilse J. Anderson; Steven A. Skinner; Raymond J. Louie; Hannah E. Warren; Alexandra Afenjar; Boris Keren; Caroline Nava; Julien Buratti; Arnaud Isapof; Diana Rodriguez; Raymond Lewandowski; Jennifer Propst; Ton van Essen; Murim Choi; Sangmoon Lee; Jong H. Chae; Susan Price; Rhonda E. Schnur; Ganka Douglas; Ingrid M. Wentzensen; Christiane Zweier; André Reis; Martin G. Bialer; Christine Moore; Marije Koopmans; Eva H. Brilstra; Glen R. Monroe; Koen L. I. van Gassen; Ellen van Binsbergen; Ruth Newbury-Ecob; Lucy Bownass; Ingrid Bader; Johannes A. Mayr; Saskia B. Wortmann; Kathy J. Jakielski; Edythe A. Strand; Katja Kloth; Tatjana Bierhals; The DDD study; John D. Roberts; Robert M. Petrovich; Shinichi Machida; Hitoshi Kurumizaka; Stefan Lelieveld; Rolph Pfundt; Sandra Jansen; Pelagia Deriziotis; Laurence Faivre; Julien Thevenon; Mirna Assoum; Lawrence Shriberg; Tjitske Kleefstra; Han G. Brunner; Paul A. Wade; Simon E. Fisher; Philippe M. Campeau
Nature Communications, Vol 10, Iss 1, Pp 1-4 (2019)
Academic Journal
Lot Snijders Blok; Justine Rousseau; Joanna Twist; Sophie Ehresmann; Motoki Takaku; Hanka Venselaar; Lance H. Rodan; Catherine B. Nowak; Jessica Douglas; Kathryn J. Swoboda; Marcie A. Steeves; Inderneel Sahai; Connie T. R. M. Stumpel; Alexander P. A. Stegmann; Patricia Wheeler; Marcia Willing; Elise Fiala; Aaina Kochhar; William T. Gibson; Ana S. A. Cohen; Ruky Agbahovbe; A. Micheil Innes; P. Y. Billie Au; Julia Rankin; Ilse J. Anderson; Steven A. Skinner; Raymond J. Louie; Hannah E. Warren; Alexandra Afenjar; Boris Keren; Caroline Nava; Julien Buratti; Arnaud Isapof; Diana Rodriguez; Raymond Lewandowski; Jennifer Propst; Ton van Essen; Murim Choi; Sangmoon Lee; Jong H. Chae; Susan Price; Rhonda E. Schnur; Ganka Douglas; Ingrid M. Wentzensen; Christiane Zweier; André Reis; Martin G. Bialer; Christine Moore; Marije Koopmans; Eva H. Brilstra; Glen R. Monroe; Koen L. I. van Gassen; Ellen van Binsbergen; Ruth Newbury-Ecob; Lucy Bownass; Ingrid Bader; Johannes A. Mayr; Saskia B. Wortmann; Kathy J. Jakielski; Edythe A. Strand; Katja Kloth; Tatjana Bierhals; The DDD study; John D. Roberts; Robert M. Petrovich; Shinichi Machida; Hitoshi Kurumizaka; Stefan Lelieveld; Rolph Pfundt; Sandra Jansen; Pelagia Deriziotis; Laurence Faivre; Julien Thevenon; Mirna Assoum; Lawrence Shriberg; Tjitske Kleefstra; Han G. Brunner; Paul A. Wade; Simon E. Fisher; Philippe M. Campeau
Nature Communications, Vol 9, Iss 1, Pp 1-12 (2018)
Academic Journal
Clara Houdayer; A. Marie Phillips; Marie Chabbert; Jennifer Bourreau; Reza Maroofian; Henry Houlden; Kay Richards; Nebal Waill Saadi; Eliška Dad'ová; Patrick Van Bogaert; Mailys Rupin; Boris Keren; Perrine Charles; Thomas Smol; Audrey Riquet; Lynn Pais; Anne O'Donnell‐Luria; Grace E. VanNoy; Allan Bayat; Rikke S Møller; Kern Olofsson; Rami Abou Jamra; Steffen Syrbe; Majed Dasouki; Laurie H. Seaver; Jennifer A. Sullivan; Vandana Shashi; Fowzan S. Alkuraya; Alexis F. Poss; J. Edward Spence; Rhonda E. Schnur; Ian C. Forster; Chaseley E. Mckenzie; Cas Simons; Min Wang; Penny Snell; Kavitha Kothur; Michael Buckley; Tony Roscioli; Noha Elserafy; Benjamin Dauriat; Vincent Procaccio; Daniel Henrion; Guy Lenaers; Estelle Colin; Nienke E. Verbeek; Koen L. Van Gassen; Claire Legendre; Dominique Bonneau; Christopher A. Reid; Katherine B. Howell; Alban Ziegler; Christian Legros
Ann Neurol
Academic Journal
Marlène Malbos; Gabriella Vera; Harsh Sheth; Rhonda E. Schnur; Aurélien Juven; Anne‐Claire Brehin; Jayesh Sheth; Ajit Gandhi; Faye L. Shapiro; Ange‐Line Bruel; Florent Marguet; Amber Begtrup; Kristin G. Monaghan; Hana Safraou; Marie Brasseur‐Daudruy; Frédéric Tran Mau‐Them; Yannis Duffourd; Laurence Faivre; Christel Thauvin‐Robinet; Paul J. Benke; Christophe Philippe
Clinical Genetics. 106:757-763
Academic Journal
An N. Dang Do; Irene J. Chang; Xutian Jiang; Lynne A. Wolfe; Bobby G. Ng; Christina Lam; Rhonda E. Schnur; Katrina Allis; Hana Hansikova; Nina Ondruskova; Shawn D. O'Connor; Amarilis Sanchez‐Valle; Arve Vollo; Raymond Y. Wang; Zoe Wolfenson; John Perreault; Daniel S. Ory; Hudson H. Freeze; J. Lawrence Merritt; Forbes D. Porter
Journal of Inherited Metabolic Disease, vol 46, iss 2
Academic Journal
Natalie Ahmad; Walid Fazeli; Sophia Schließke; Gaetan Lesca; Zeynep Gokce-Samar; Kedous Y. Mekbib; Sheng Chih Jin; Jennifer Burton; George Hoganson; Andrea Petersen; Sara Gracie; Leslie Granger; Enrika Bartels; Henry Oppermann; Adam Kundishora; Marianne Till; Clara Milleret-Pignot; Shane Dangerfield; David Viskochil; Katherine J. Anderson; Timothy Blake Palculict; Rhonda E. Schnur; Ingrid M. Wentzensen; George E. Tiller; Kristopher T. Kahle; Wolfram S. Kunz; Sebastian Burkart; Matias Simons; Heinrich Sticht; Rami Abou Jamra; Sonja Neuser
Pediatric Neurology. 148:164-171
Academic Journal
Elisa Calì; Mohnish Suri; Marcello Scala; Matteo P. Ferla; Shahryar Alavi; Eissa Faqeih; Emilia K. Bijlsma; Kristen Wigby; Diana Baralle; Mohammad Yahya Vahidi Mehrjardi; Jennifer Schwab; Konrad Platzer; Katharina Steindl; Mais Hashem; Marilyn C. Jones; Dmitriy Niyazov; Jennifer Jacober; Rebecca O. Littlejohn; Denisa Weis; Neda Zadeh; Lance H. Rodan; Alice Goldenberg; François Lecoquierre; Marina Dutra‐Clarke; Gabriella Horváth; Dana Young; Naama Orenstein; Shahad Bawazeer; Anneke T. Vulto‐van Silfhout; Yvan Herenger; Mohammadreza Dehghani; Seyed Mohammad Seyedhassani; Amir Bahreini; Mahya Ebrahimi Nasab; A. Gulhan Ercan‐Sencicek; Zahra Firoozfar; Mojtaba Movahedinia; Stéphanie Efthymiou; Pasquale Striano; Ehsan Ghayoor Karimiani; Vincenzo Salpietro; Jenny C. Taylor; Melody Redman; Alexander P.A. Stegmann; Andreas Laner; Ghada M.H. Abdel‐Salam; Megan Li; Mario Bengala; Amelie J. Müller; María Cristina Digilio; Anita Rauch; Murat Günel; Hannah Titheradge; Daniela N. Schweitzer; Alison Kraus; Irene Valenzuela; Scott McLean; Chanika Phornphutkul; Mustafa A. Salih; Amber Begtrup; Rhonda E. Schnur; Erin Torti; Tobias B. Haack; Carlos E. Prada; Fowzan S. Alkuraya; Henry Houlden; Reza Maroofian
Genet Med
Scientia
Scientia. Dipòsit d'Informació Digital del Departament de Salut
instname
Genetics in Medicine, 25, 1, pp. 135-142
Scientia
Scientia. Dipòsit d'Informació Digital del Departament de Salut
instname
Genetics in Medicine, 25, 1, pp. 135-142
Academic Journal
Yoeri Sleyp; Irene Valenzuela; Andrea Accogli; Katleen Ballon; Bruria Ben-Zeev; Samuel F. Berkovic; Martin Broly; Patrick Callaerts; Raymond C. Caylor; Perrine Charles; Nicolas Chatron; Lior Cohen; Antonietta Coppola; Dawn Cordeiro; Claudia Cuccurullo; Ivon Cuscó; null Janette diMonda; Ramon Duran-Romaña; Nina Ekhilevitch; Paula Fernández-Alvarez; Christopher T. Gordon; Bertrand Isidor; Boris Keren; Gaetan Lesca; Jarymke Maljaars; Saadet Mercimek-Andrews; Michelle M. Morrow; Alison M. Muir; Frederic Rousseau; Vincenzo Salpietro; Ingrid E. Scheffer; Rhonda E. Schnur; Joost Schymkowitz; Erika Souche; Jean Steyaert; Elliot S. Stolerman; Jaime Vengoechea; Dorothée Ville; Camerun Washington; Karin Weiss; Rinat Zaid; Lynette G. Sadleir; Heather C. Mefford; Hilde Peeters
Genetics in Medicine. 24:2464-2474
Academic Journal
Lauren O'Grady; Samantha A. Schrier Vergano; Trevor L. Hoffman; Dean Sarco; Sara Cherny; Emily Bryant; Laura Schultz‐Rogers; Wendy K. Chung; Stephanie Sacharow; Ladonna L. Immken; Susan Holder; Rebecca R. Blackwell; Catherine Buchanan; Roman Yusupov; François Lecoquierre; Anne‐Marie Guerrot; Lance Rodan; Bert B. A. de Vries; Erik Jan Kamsteeg; Fernando Santos Simarro; Maria Palomares‐Bralo; Natasha Brown; Lynn Pais; Alejandro Ferrer; Eric W. Klee; Dusica Babovic‐Vuksanovic; Lindsay Rhodes; Richard Person; Amber Begtrup; Jennifer Keller‐Ramey; Teresa Santiago‐Sim; Rhonda E. Schnur; David A. Sweetser; Nina B. Gold
American Journal of Medical Genetics. Part A, 188, 9, pp. 2750-2759
De novo variants predicting haploinsufficiency for DIP2C are associated with expressive speech delay
Academic Journal
Thoa Ha; Angela Morgan; Meghan N. Bartos; Katelyn Beatty; Benjamin Cogné; Dominique Braun; Céline B. Gerber; Harald Gaspar; Anna M. Kopps; Claudine Rieubland; Anna C. E. Hurst; David J. Amor; Mathilde Nizon; Laurent Pasquier; Rolph Pfundt; André Reis; Victoria Mok Siu; Marine Tessarech; Michelle L. Thompson; Marie Vincent; Bert B. A. de Vries; Matthew B. Walsh; Stephanie Burns Wechsler; Christiane Zweier; Rhonda E. Schnur; Maria J. Guillen Sacoto; Henri Margot; Barbara Masotto; Maria Irene Valenzuela Palafoll; Urwah Nawaz; Irina Voineagu; Anne Slavotinek
Scientia
Scientia. Dipòsit d'Informació Digital del Departament de Salut
instname
American Journal of Medical Genetics. Part A, 194, 7, pp. e63559
Ha, Thoa; Morgan, Angela; Bartos, Meghan N; Beatty, Katelyn; Cogné, Benjamin; Braun, Dominique; Gerber, Céline B; Gaspar, Harald; Kopps, Anna M; Rieubland, Claudine; Hurst, Anna C E; Amor, David J; Nizon, Mathilde; Pasquier, Laurent; Pfundt, Rolph; Reis, André; Siu, Victoria Mok; Tessarech, Marine; Thompson, Michelle L; Vincent, Marie; ... (2024). De novo variants predicting haploinsufficiency for DIP2C are associated with expressive speech delay. American journal of medical genetics. Part A, 194(7), e63559. Wiley-Liss 10.1002/ajmg.a.63559
Scientia. Dipòsit d'Informació Digital del Departament de Salut
instname
American Journal of Medical Genetics. Part A, 194, 7, pp. e63559
Ha, Thoa; Morgan, Angela; Bartos, Meghan N; Beatty, Katelyn; Cogné, Benjamin; Braun, Dominique; Gerber, Céline B; Gaspar, Harald; Kopps, Anna M; Rieubland, Claudine; Hurst, Anna C E; Amor, David J; Nizon, Mathilde; Pasquier, Laurent; Pfundt, Rolph; Reis, André; Siu, Victoria Mok; Tessarech, Marine; Thompson, Michelle L; Vincent, Marie; ... (2024). De novo variants predicting haploinsufficiency for DIP2C are associated with expressive speech delay. American journal of medical genetics. Part A, 194(7), e63559. Wiley-Liss 10.1002/ajmg.a.63559
Academic Journal
Gabriel C. Dworschak; Jaya Punetha; Jeshurun C. Kalanithy; Enrico Mingardo; Haktan Bağış Erdem; Zeynep Coban‐Akdemir; Ender Karaca; Tadahiro Mitani; Dana Marafi; Jawid M. Fatih; Shalini N. Jhangiani; Jill V. Hunter; Tikam Chand Dakal; Bhanupriya Dhabhai; Omar Dabbagh; Hessa S. Alsaif; Fowzan S. Alkuraya; Reza Maroofian; Henry Houlden; Stéphanie Efthymiou; Natalia Dominik; Vincenzo Salpietro; Tipu Sultan; Shahzad Haider; Farah Bibi; Holger Thiele; Julia Hoefele; Korbinian M. Riedhammer; Matias Wagner; Ilaria Guella; Michelle Demos; Boris Keren; Julien Buratti; Perrine Charles; Caroline Nava; Stéphanie Baulac; Solveig Heide; Elise Valkanas; Leigh B. Waddell; Kristi Jones; Emily Oates; Sandra T. Cooper; Daniel G. MacArthur; Steffen Syrbe; Andreas Ziegler; Konrad Platzer; Volkan Okur; Wendy K. Chung; Sarah A. O'Shea; Matthew Surface; Stanley Fahn; Paul R. Mark; Renzo Guerrini; Annalisa Vetro; Beth Hudson; Rhonda E. Schnur; George Hoganson; Jennifer Burton; Meriel McEntagart; Tobias Lindenberg; Ömer Yılmaz; Benjamin Odermatt; Davut Pehli̇van; Jennifer E. Posey; James R. Lupski; Heiko Reutter
Genet Med
Genet. Med. 23, 1715–1725 (2021)
Genet. Med. 23, 1715–1725 (2021)
Academic Journal
Rhonda E. Schnur; Sairah Yousaf; James Liu; Wendy K. Chung; Lindsay Rhodes; Michael Marble; Regina M. Zambrano; Nara Sobreira; Parul Jayakar; Mary Ella Pierpont; Matthew J. Schultz; Pavel N. Pichurin; Rory J. Olson; Gail E. Graham; Matthew Osmond; Gustavo A. Contreras-García; Karina A. Campo-Neira; Camilo A. Peñaloza-Mantilla; Mark Flage; Srikar Kuppa; Karina Navarro; Maria J. Guillen Sacoto; Ingrid M. Wentzensen; Maria I. Scarano; Jane Juusola; Carlos E. Prada; Robert B. Hufnagel
Genet Med
Academic Journal
Alison M. Muir; Jennifer F. Gardner; Richard H. van Jaarsveld; Iris M. de Lange; Jasper J. van der Smagt; Golder N. Wilson; Holly Dubbs; Ethan M. Goldberg; Lia Zitano; Caleb Bupp; Jose Martinez; Myriam Srour; Andrea Accogli; Afnan Alhakeem; Meira Meltzer; Andrea Gropman; Carole Brewer; Richard C. Caswell; Tara Montgomery; Caoimhe McKenna; Shane McKee; Corinna Powell; Pradeep C. Vasudevan; Angela F. Brady; Shelagh Joss; Carolyn Tysoe; Grace Noh; Mark Tarnopolsky; Lauren Brady; Muhammad Zafar; Samantha A. Schrier Vergano; Brianna Murray; Lindsey Sawyer; Bryan E. Hainline; Katherine Sapp; Danielle DeMarzo; Darcy J. Huismann; Ingrid M. Wentzensen; Rhonda E. Schnur; Kristin G. Monaghan; Jane Juusola; Lindsay Rhodes; William B. Dobyns; Francois Lecoquierre; Alice Goldenberg; Tilman Polster; Susanne Axer-Schaefer; Konrad Platzer; Chiara Klöckner; Trevor L. Hoffman; Daniel G. MacArthur; Melanie C. O’Leary; Grace E. VanNoy; Eleina England; Vinod C. Varghese; Heather C. Mefford
Genet Med
Academic Journal
Lot Snijders Blok; Arianna Vino; Joery den Hoed; Hunter R. Underhill; Danielle Monteil; Hong Li; Francis Jeshira Reynoso Santos; Wendy K. Chung; Michelle D. Amaral; Rhonda E. Schnur; Teresa Santiago-Sim; Yue Si; Han G. Brunner; Tjitske Kleefstra; Simon E. Fisher
Genetics in Medicine
Genet Med
Genetics in Medicine, 23, 3, pp. 534-542
Genet Med
Genetics in Medicine, 23, 3, pp. 534-542
Academic Journal
Theresa Brunet; Kirsty McWalter; Katharina Mayerhanser; Grace M. Anbouba; Amy Armstrong-Javors; Ingrid Bader; Evan Baugh; Amber Begtrup; Caleb P. Bupp; Bert L. Callewaert; Anna Cereda; Margot A. Cousin; Juan C. Del Rey Jimenez; Laurie Demmer; Nikita R. Dsouza; Nicole Fleischer; Ralitza H. Gavrilova; Sumedha Ghate; Elisabeth Graf; Andrew Green; Sarah R. Green; Maria Iascone; Ameni Kdissa; Dirk Klee; Eric W. Klee; Emily Lancaster; Kristin Lindstrom; Johannes A. Mayr; Meriel McEntagart; Naomi J.L. Meeks; Dana Mittag; Harrison Moore; Anne K. Olsen; Damara Ortiz; Gretchen Parsons; Loren D.M. Pena; Richard E. Person; Sumit Punj; Gonzalo Alonso Ramos-Rivera; Maria J.Guillen Sacoto; G. Bradley Schaefer; Rhonda E. Schnur; Tiana M. Scott; Daryl A. Scott; Carolyn R. Serbinski; Vandana Shashi; Victoria M. Siu; Barbro Fossøy Stadheim; Jennifer A. Sullivan; Jana Švantnerová; Lea Velsher; David S. Wargowski; Ingrid M. Wentzensen; Dagmar Wieczorek; Juliane Winkelmann; Patrick Yap; Michael Zech; Michael T. Zimmermann; Thomas Meitinger; Felix Distelmaier; Matias Wagner
Genet Med
Paediatrics Publications
Genet. Med. 23, 384–395 (2021)
GENETICS IN MEDICINE
Paediatrics Publications
Genet. Med. 23, 384–395 (2021)
GENETICS IN MEDICINE
Academic Journal
Sakshi Singh; Aditi Gupta; Michael Zech; Ashley N. Sigafoos; Karl J. Clark; Yasemin Dincer; Matias Wagner; Jennifer B. Humberson; Sarah Green; Koen van Gassen; Tracy Brandt; Rhonda E. Schnur; Francisca Millan; Yue Si; Volker Mall; Juliane Winkelmann; Ralitza H. Gavrilova; Eric W. Klee; Kendra Engleman; Nicole P. Safina; Rachel Slaugh; Emily M. Bryant; Wen-Hann Tan; Jorge Granadillo; Sunita N. Misra; G. Bradley Schaefer; Shelley Towner; Eva H. Brilstra; Bobby P.C. Koeleman
Genet Med
Genet. Med. 22, 1413–1417 (2020)
Genet. Med. 22, 1413–1417 (2020)
Lysine acetyltransferase 8 is involved in cerebral development and syndromic intellectual disability
Academic Journal
Lin Li; Mohammad Ghorbani; Monika Weisz-Hubshman; Justine Rousseau; Isabelle Thiffault; Rhonda E. Schnur; Catherine Breen; Renske Oegema; Marjan M.M. Weiss; Quinten Waisfisz; Sara Welner; Helen Kingston; Jordan A. Hills; Elles M.J. Boon; Lina Basel-Salmon; Osnat Konen; Hadassa Goldberg-Stern; Lily Bazak; Shay Tzur; Jianliang Jin; Xiuli Bi; Michael Bruccoleri; Kirsty McWalter; Megan T. Cho; Maria Scarano; G. Bradley Schaefer; Susan S. Brooks; Susan Starling Hughes; K.L.I. van Gassen; Johanna M. van Hagen; Tej K. Pandita; Pankaj B. Agrawal; Philippe M. Campeau; Xiang-Jiao Yang
Li, L, Ghorbani, M, Weisz-Hubshman, M, Rousseau, J, Thiffault, I, Schnur, R E, Breen, C, Oegema, R, Weiss, M M M, Waisfisz, Q, Welner, S, Kingston, H, Hills, J A, Boon, E M J, Basel-Salmon, L, Konen, O, Goldberg-Stern, H, Bazak, L, Tzur, S, Jin, J, Bi, X, Bruccoleri, M, McWalter, K, Cho, M T, Scarano, M, Schaefer, G B, Brooks, S S, Hughes, S S, Van Gassen, K L I, Van Hagen, J M, Pandita, T K, Agrawal, P B, Campeau, P M & Yang, X J 2020, 'Lysine acetyltransferase 8 is involved in cerebral development and syndromic intellectual disability', Journal of Clinical Investigation, vol. 130, no. 3, pp. 1431-1445. https://doi.org/10.1172/JCI131145
Journal of Clinical Investigation, 130, 3, pp. 1431-1445
Journal of Clinical Investigation, 130, 3, pp. 1431-1445
Academic Journal
Sharri S. Cyrus; Ana S. A. Cohen; Ruky Agbahovbe; Kristiina Avela; Kit S. Yeung; Brian H. Y. Chung; Ho‐Ming Luk; Nataliya Tkachenko; Sanaa Choufani; Rosanna Weksberg; Elena Lopez‐Rangel; Kathleen Brown; Margarita S. Saenz; Shayna Svihovec; Shawn E. McCandless; Lynne M. Bird; Aixa Gonzalez Garcia; Michael J. Gambello; Kirsty McWalter; Rhonda E. Schnur; Jianghong An; Steven J. M. Jones; Sanjiv K. Bhalla; Hailey Pinz; Stephen R. Braddock; William T. Gibson
American Journal of Medical Genetics Part C: Seminars in Medical Genetics. 181:532-547
Academic Journal
Laura D. Ferreira; Rayssa L. Borges‐Medeiros; Jenny Thies; Rhonda E. Schnur; Christina Lam; João R. M. de Oliveira
American Journal of Medical Genetics Part A. 179:2228-2232
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