학술논문
'학술논문'
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1~10
Academic Journal
Genetics in Medicine Open, Vol 2, Iss , Pp 101178- (2024)
Academic Journal
Genetics in Medicine Open, Vol 2, Iss , Pp 101348- (2024)
Academic Journal
Sally C. Fletcher; Charlotte Hall; Tristan J. Kennedy; Sander Pajusalu; Monica H. Wojcik; Uncaar Boora; Chan Li; Kaisa Teele Oja; Eline Hendrix; Christian A.E. Westrip; Regina Andrijes; Sonia K. Piasecka; Mansi Singh; Mohammed E. El-Asrag; Anetta Ptasinska; Vallo Tillmann; Martin R. Higgs; Deanna A. Carere; Andrew D. Beggs; John Pappas; Rachel Rabin; Stephen J. Smerdon; Grant S. Stewart; Katrin Õunap; Mathew L. Coleman
The Journal of Clinical Investigation, Vol 133, Iss 7 (2023)
Academic Journal
Alejandro Parra; Rachel Rabin; John Pappas; Patricia Pascual; Mario Cazalla; Pedro Arias; Natalia Gallego-Zazo; Alfredo Santana; Ignacio Arroyo; Mercè Artigas; Harry Pachajoa; Yasemin Alanay; Ozlem Akgun-Dogan; Lyse Ruaud; Nathalie Couque; Jonathan Levy; Gloria Liliana Porras-Hurtado; Fernando Santos-Simarro; Maria Juliana Ballesta-Martinez; Encarna Guillén-Navarro; Hugo Muñoz-Hernández; Julián Nevado; Spanish OverGrowth Registry Initiative; Jair Tenorio-Castano; Pablo Lapunzina
Genes, Vol 14, Iss 6, p 1179 (2023)
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
Ulrike Hüffmeier; Cornelia Kraus; Miriam S. Reuter; Steffen Uebe; Mary-Alice Abbott; Syed A. Ahmed; Kristyn L. Rawson; Eileen Barr; Hong Li; Ange-Line Bruel; Laurence Faivre; Frédéric Tran Mau-Them; Christina Botti; Susan Brooks; Kaitlyn Burns; D. Isum Ward; Marina Dutra-Clarke; Julian A. Martinez-Agosto; Hane Lee; Stanley F. Nelson; UCLA California Center for Rare Disease; Pia Zacher; Rami Abou Jamra; Chiara Klöckner; Julie McGaughran; Jürgen Kohlhase; Sarah Schuhmann; Ellen Moran; John Pappas; Annick Raas-Rothschild; Maria J. Guillen Sacoto; Lindsay B. Henderson; Timothy Blake Palculict; Sureni V. Mullegama; Houda Zghal Elloumi; Adi Reich; Samantha A. Schrier Vergano; Erica Wahl; André Reis; Christiane Zweier
Orphanet Journal of Rare Diseases, Vol 16, 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
Chanchala D. Kaddi; Bradley Niesner; Rena Baek; Paul Jasper; John Pappas; John Tolsma; Jing Li; Zachary van Rijn; Mengdi Tao; Catherine Ortemann‐Renon; Rachael Easton; Sharon Tan; Ana Cristina Puga; Edward H. Schuchman; Jeffrey S. Barrett; Karim Azer
CPT: Pharmacometrics & Systems Pharmacology, Vol 7, Iss 7, Pp 442-452 (2018)
Academic Journal
Odelia Chorin; Naomi Yachelevich; Khaled Mohamed; Ilana Moscatelli; John Pappas; Kim Henriksen; Gilad D. Evrony
Molecular Genetics & Genomic Medicine, Vol 8, Iss 10, Pp n/a-n/a (2020)
Academic Journal
Case Reports in Endocrinology, Vol 2017 (2017)
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