학술논문
'학술논문'
에서 검색결과 13건 | 목록
1~10
Academic Journal
Journal Of Movement Disorders, 11(1), pp.45-48 Jan, 2018
Gain-of-function MARK4 variant associates with pediatric neurodevelopmental disorder and dysmorphism
Academic Journal
Simran Samra; Mehul Sharma; Maryam Vaseghi-Shanjani; Kate L. Del Bel; Loryn Byres; Susan Lin; Joshua Dalmann; Areesha Salman; Jill Mwenifumbo; Bhavi P. Modi; Catherine M. Biggs; Cyrus Boelman; Lorne A. Clarke; Anna Lehman; Stuart E. Turvey
HGG Advances, Vol 5, Iss 1, Pp 100259- (2024)
Academic Journal
Tarekegn Geberhiwot; Melissa Wasserstein; Subadra Wanninayake; Shaun Christopher Bolton; Andrea Dardis; Anna Lehman; Olivier Lidove; Charlotte Dawson; Roberto Giugliani; Jackie Imrie; Justin Hopkin; James Green; Daniel de Vicente Corbeira; Shyam Madathil; Eugen Mengel; Fatih Ezgü; Magali Pettazzoni; Barbara Sjouke; Carla Hollak; Marie T. Vanier; Margaret McGovern; Edward Schuchman
Orphanet Journal of Rare Diseases, Vol 18, Iss 1, Pp 1-28 (2023)
Academic Journal
Marie Morimoto; Vikas Bhambhani; Nour Gazzaz; Mariska Davids; Paalini Sathiyaseelan; Ellen F. Macnamara; Jennifer Lange; Anna Lehman; Patricia M. Zerfas; Jennifer L. Murphy; Maria T. Acosta; Camille Wang; Emily Alderman; Undiagnosed Diseases Network; Sara Reichert; Audrey Thurm; David R. Adams; Wendy J. Introne; Sharon M. Gorski; Cornelius F. Boerkoel; William A. Gahl; Cynthia J. Tifft; May Christine V. Malicdan
npj Genomic Medicine, Vol 8, Iss 1, Pp 1-16 (2023)
Academic Journal
Oguz K. Ozgoren; Glen Lester Sequiera; Costanza Ferrari Bardile; Sophia C. Gjervan; Areesha Salman; Anna Lehman; Stuart E. Turvey; Colin J.D. Ross; Sylvia Stockler; Mahmoud A. Pouladi
Stem Cell Research, Vol 71, Iss , Pp 103174- (2023)
Academic Journal
Simona D. Frederiksen; Vladimir Avramović; Tatiana Maroilley; Anna Lehman; Laura Arbour; Maja Tarailo-Graovac
Orphanet Journal of Rare Diseases, Vol 17, Iss 1, Pp 1-18 (2022)
Academic Journal
Alison M. Elliott; Shelin Adam; Christèle du Souich; Anna Lehman; Tanya N. Nelson; Clara van Karnebeek; Emily Alderman; Linlea Armstrong; Gudrun Aubertin; Katherine Blood; Cyrus Boelman; Cornelius Boerkoel; Karla Bretherick; Lindsay Brown; Chieko Chijiwa; Lorne Clarke; Madeline Couse; Susan Creighton; Abby Watts-Dickens; William T. Gibson; Harinder Gill; Maja Tarailo-Graovac; Sara Hamilton; Harindar Heran; Gabriella Horvath; Lijia Huang; Gurdip K. Hulait; David Koehn; Hyun Kyung Lee; Suzanne Lewis; Elena Lopez; Kristal Louie; Karen Niederhoffer; Allison Matthews; Kirsten Meagher; Junran J. Peng; Millan S. Patel; Simone Race; Phillip Richmond; Rosemarie Rupps; Ramona Salvarinova; Kimberly Seath; Kathryn Selby; Michelle Steinraths; Sylvia Stockler; Kaoru Tang; Christine Tyson; Margot van Allen; Wyeth Wasserman; Jill Mwenifumbo; Jan M. Friedman
HGG Advances, Vol 3, Iss 3, Pp 100108- (2022)
Academic Journal
Madelyn A. Gillentine; Tianyun Wang; Kendra Hoekzema; Jill Rosenfeld; Pengfei Liu; Hui Guo; Chang N. Kim; Bert B. A. De Vries; Lisenka E. L. M. Vissers; Magnus Nordenskjold; Malin Kvarnung; Anna Lindstrand; Ann Nordgren; Jozef Gecz; Maria Iascone; Anna Cereda; Agnese Scatigno; Silvia Maitz; Ginevra Zanni; Enrico Bertini; Christiane Zweier; Sarah Schuhmann; Antje Wiesener; Micah Pepper; Heena Panjwani; Erin Torti; Farida Abid; Irina Anselm; Siddharth Srivastava; Paldeep Atwal; Carlos A. Bacino; Gifty Bhat; Katherine Cobian; Lynne M. Bird; Jennifer Friedman; Meredith S. Wright; Bert Callewaert; Florence Petit; Sophie Mathieu; Alexandra Afenjar; Celenie K. Christensen; Kerry M. White; Orly Elpeleg; Itai Berger; Edward J. Espineli; Christina Fagerberg; Charlotte Brasch-Andersen; Lars Kjærsgaard Hansen; Timothy Feyma; Susan Hughes; Isabelle Thiffault; Bonnie Sullivan; Shuang Yan; Kory Keller; Boris Keren; Cyril Mignot; Frank Kooy; Marije Meuwissen; Alice Basinger; Mary Kukolich; Meredith Philips; Lucia Ortega; Margaret Drummond-Borg; Mathilde Lauridsen; Kristina Sorensen; Anna Lehman; CAUSES Study; Elena Lopez-Rangel; Paul Levy; Davor Lessel; Timothy Lotze; Suneeta Madan-Khetarpal; Jessica Sebastian; Jodie Vento; Divya Vats; L. Manace Benman; Shane Mckee; Ghayda M. Mirzaa; Candace Muss; John Pappas; Hilde Peeters; Corrado Romano; Maurizio Elia; Ornella Galesi; Marleen E. H. Simon; Koen L. I. van Gassen; Kara Simpson; Robert Stratton; Sabeen Syed; Julien Thevenon; Irene Valenzuela Palafoll; Antonio Vitobello; Marie Bournez; Laurence Faivre; Kun Xia; SPARK Consortium; Rachel K. Earl; Tomasz Nowakowski; Raphael A. Bernier; Evan E. Eichler
Genome Medicine, Vol 13, Iss 1, Pp 1-26 (2021)
Academic Journal
Henry Y. Lu; Robert Sertori; Alejandra V. Contreras; Mark Hamer; Melina Messing; Kate L. Del Bel; Elena Lopez-Rangel; Edmond S. Chan; Wingfield Rehmus; Joshua D. Milner; Kelly M. McNagny; Anna Lehman; David L. Wiest; Stuart E. Turvey
Frontiers in Immunology, Vol 12 (2021)
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)
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