학술논문
'학술논문'
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1~10
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
Andrea Accogli; Saurabh Shakya; Taewoo Yang; Christine Insinna; Soo Yeon Kim; David Bell; Kirill R. Butov; Mariasavina Severino; Marcello Niceta; Marcello Scala; Hyun Sik Lee; Taekyeong Yoo; Jimmy Stauffer; Huijie Zhao; Chiara Fiorillo; Marina Pedemonte; Maria C. Diana; Simona Baldassari; Viktoria Zakharova; Anna Shcherbina; Yulia Rodina; Christina Fagerberg; Laura Sønderberg Roos; Jolanta Wierzba; Artur Dobosz; Amanda Gerard; Lorraine Potocki; Jill A. Rosenfeld; Seema R. Lalani; Tiana M. Scott; Daryl Scott; Mahshid S. Azamian; Raymond Louie; Hannah W. Moore; Neena L. Champaigne; Grace Hollingsworth; Annalaura Torella; Vincenzo Nigro; Rafal Ploski; Vincenzo Salpietro; Federico Zara; Simone Pizzi; Giovanni Chillemi; Marzia Ognibene; Erin Cooney; Jenny Do; Anders Linnemann; Martin J. Larsen; Suzanne Specht; Kylie J. Walters; Hee-Jung Choi; Murim Choi; Marco Tartaglia; Phillippe Youkharibache; Jong-Hee Chae; Valeria Capra; Sung-Gyoo Park; Christopher J. Westlake
Nature Communications, Vol 15, Iss 1, Pp 1-20 (2024)
Academic Journal
Lindsay Burrage; Denise Lanza; Paul Marcogliese; Di Lu; Chih-Wei Logan Hsu; Nathalie Aceves; Matthew Gonzalez; Audrey Christiansen; Tara Rasmussen; Angelina Gaspero; John Seavitt; Mary Dickinson; Brian Shayota; Stephanie Pachter; Debra-Lynn Day-Salvatore; Oguz Kanca; Michael Wangler; Lorraine Potocki; Jill Rosenfeld; Brendan Lee; Shinya Yamamoto; Hugo Bellen; Jason Heaney
Genetics in Medicine Open, Vol 2, Iss , Pp 101070- (2024)
Academic Journal
Genetics in Medicine Open, Vol 2, Iss , Pp 101183- (2024)
P297: More than an extra chromosome: Unexpected multiple diagnoses in individuals with Down syndrome
Academic Journal
Liesbeth Vossaert; Nichole Owen; Hongzheng Dai; Eric Kao; Xiaonan Zhao; Seema Lalani; Monika Weisz-Hubshman; Lorraine Potocki; Elizabeth Mizerik
Genetics in Medicine Open, Vol 2, Iss , Pp 101193- (2024)
Academic Journal
Genetics in Medicine Open, Vol 2, Iss , Pp 101607- (2024)
Academic Journal
Dan Brooks; Elizabeth Mizerik; Liesbeth Vossaert; Seema Lalani; Monika Weisz-Hubshman; Lorraine Potocki; Laurie Robak
Genetics in Medicine Open, Vol 2, Iss , Pp 101785- (2024)
Academic Journal
Casey Thornton; Elizabeth Mizerik; Dan Brooks; Chaya Murali; Christian Parobek; Lorraine Potocki; Pengfei Liu; Nichole Owen; Liesbeth Vossaert
Genetics in Medicine Open, Vol 1, Iss 1, Pp 100620- (2023)
Academic Journal
Chaofan Zhang; Angad Jolly; Brian J. Shayota; Juliana F. Mazzeu; Haowei Du; Moez Dawood; Patricia Celestino Soper; Ariadne Ramalho de Lima; Bárbara Merfort Ferreira; Zeynep Coban-Akdemir; Janson White; Deborah Shears; Fraser Robert Thomson; Sarah Louise Douglas; Andrew Wainwright; Kathryn Bailey; Paul Wordsworth; Mike Oldridge; Tracy Lester; Alistair D. Calder; Katja Dumic; Siddharth Banka; Dian Donnai; Shalini N. Jhangiani; Lorraine Potocki; Wendy K. Chung; Sara Mora; Hope Northrup; Myla Ashfaq; Jill A. Rosenfeld; Kati Mason; Lynda C. Pollack; Allyn McConkie-Rosell; Wei Kelly; Marie McDonald; Natalie S. Hauser; Peter Leahy; Cynthia M. Powell; Raquel Boy; Rachel Sayuri Honjo; Fernando Kok; Lucia R. Martelli; Vicente Odone Filho; Genomics England Research Consortium; Donna M. Muzny; Richard A. Gibbs; Jennifer E. Posey; Pengfei Liu; James R. Lupski; V. Reid Sutton; Claudia M.B. Carvalho
HGG Advances, Vol 3, Iss 1, Pp 100074- (2022)
Academic Journal
Melanie Lacaria; Pradip Saha; Lorraine Potocki; Weimin Bi; Jiong Yan; Santhosh Girirajan; Brooke Burns; Sarah Elsea; Katherina Walz; Lawrence Chan; James R Lupski; Wenli Gu
PLoS Genetics, Vol 8, Iss 5, p e1002713 (2012)
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[AR] Lorraine Potocki
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