학술논문
'학술논문'
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1~10
De novo TLK1 and MDM1 mutations in a patient with a neurodevelopmental disorder and immunodeficiency
Academic Journal
Marina Villamor-Payà; María Sanchiz-Calvo; Jordann Smak; Lynn Pais; Malika Sud; Uma Shankavaram; Alysia Kern Lovgren; Christina Austin-Tse; Vijay S. Ganesh; Marina Gay; Marta Vilaseca; Gianluca Arauz-Garofalo; Lluís Palenzuela; Grace VanNoy; Anne O’Donnell-Luria; Travis H. Stracker
iScience, Vol 27, Iss 6, Pp 109984- (2024)
Academic Journal
Christina Austin-Tse; Stephanie DiTroia; Melanie O'Leary; Grace VanNoy; Brian Mangilog; Gulalai Shah; Eva Martinez; Jillian Serrano; Lynn Pais; Emily O'Heir; Ikeoluwa Osei-Owusu; Gabrielle Lemire; Vijay Ganesh; Sarah Stenton; Mutaz Amin; Kayla Socarras; Mugdha Singh; Stacey Hall; Katie Larsson; Moriel Singer-Berk; Daniel Marten; Michael Wilson; Hana Snow; Benjamin Blankenmeister; Jialan Ma; Ben Weisburd; Alba Sanchis-Juan; Harrison Brand; Emily Groopman; Alysia Lovgren; Clara Williamson; Marissa Hollyer; Eleina England; Eleanor Seaby; Katherine Chao; Julia Goodrich; Samantha Baxter; Daniel MacArthur; Michael Talkowski; Monica Wojcik; Anne O'Donnell-Luria; Heidi Rehm
Genetics in Medicine Open, Vol 2, Iss , Pp 101481- (2024)
Academic Journal
Christine C. Bruels; Hannah R. Littel; Audrey L. Daugherty; Seth Stafki; Elicia A. Estrella; Emily S. McGaughy; Don Truong; Jonathan P. Badalamenti; Lynn Pais; Vijay S. Ganesh; Anne O'Donnell‐Luria; Heather J. Stalker; Yang Wang; Christin Collins; Andrea Behlmann; Richard J. L. F. Lemmers; Silvère M. van derMaarel; Regina Laine; Partha S. Ghosh; Basil T. Darras; Carla D. Zingariello; Christina A. Pacak; Louis M. Kunkel; Peter B. Kang
Annals of Clinical and Translational Neurology, Vol 9, Iss 8, Pp 1302-1309 (2022)
Academic Journal
Lot Snijders Blok; Jolijn Verseput; Dmitrijs Rots; Hanka Venselaar; A. Micheil Innes; Connie Stumpel; Katrin Õunap; Karit Reinson; Eleanor G. Seaby; Shane McKee; Barbara Burton; Katherine Kim; Johanna M. van Hagen; Quinten Waisfisz; Pascal Joset; Katharina Steindl; Anita Rauch; Dong Li; Elaine H. Zackai; Sarah E. Sheppard; Beth Keena; Hakon Hakonarson; Andreas Roos; Nicolai Kohlschmidt; Anna Cereda; Maria Iascone; Erika Rebessi; Kristin D. Kernohan; Philippe M. Campeau; Francisca Millan; Jesse A. Taylor; Hanns Lochmüller; Martin R. Higgs; Amalia Goula; Birgitta Bernhard; Danita J. Velasco; Andrew A. Schmanski; Zornitza Stark; Lyndon Gallacher; Lynn Pais; Paul C. Marcogliese; Shinya Yamamoto; Nicholas Raun; Taryn E. Jakub; Jamie M. Kramer; Joery den Hoed; Simon E. Fisher; Han G. Brunner; Tjitske Kleefstra
HGG Advances, Vol 4, Iss 1, Pp 100157- (2023)
Academic Journal
Maria Asif; Emrah Kaygusuz; Marwan Shinawi; Anna Nickelsen; Tzung-Chien Hsieh; Prerana Wagle; Birgit S. Budde; Jennifer Hochscherf; Uzma Abdullah; Stefan Höning; Christian Nienberg; Dirk Lindenblatt; Angelika A. Noegel; Janine Altmüller; Holger Thiele; Susanne Motameny; Nicole Fleischer; Idan Segal; Lynn Pais; Sigrid Tinschert; Nadra Nasser Samra; Juliann M. Savatt; Natasha L. Rudy; Chiara De Luca; Paola Fortugno; Susan M. White; Peter Krawitz; Anna C.E. Hurst; Karsten Niefind; Joachim Jose; Francesco Brancati; Peter Nürnberg; Muhammad Sajid Hussain
HGG Advances, Vol 3, Iss 3, Pp 100111- (2022)
Academic Journal
Monika Oláhová; Bradley Peter; Zsolt Szilagyi; Hector Diaz-Maldonado; Meenakshi Singh; Ewen W. Sommerville; Emma L. Blakely; Jack J. Collier; Emily Hoberg; Viktor Stránecký; Hana Hartmannová; Anthony J. Bleyer; Kim L. McBride; Sasigarn A. Bowden; Zuzana Korandová; Alena Pecinová; Hans-Hilger Ropers; Kimia Kahrizi; Hossein Najmabadi; Mark A. Tarnopolsky; Lauren I. Brady; K. Nicole Weaver; Carlos E. Prada; Katrin Õunap; Monica H. Wojcik; Sander Pajusalu; Safoora B. Syeda; Lynn Pais; Elicia A. Estrella; Christine C. Bruels; Louis M. Kunkel; Peter B. Kang; Penelope E. Bonnen; Tomáš Mráček; Stanislav Kmoch; Gráinne S. Gorman; Maria Falkenberg; Claes M. Gustafsson; Robert W. Taylor
Nature Communications, Vol 12, Iss 1, Pp 1-13 (2021)
Academic Journal
Adam W. Hansen; Payal Arora; Michael M. Khayat; Leah J. Smith; Andrea M. Lewis; Linda Z. Rossetti; Joy Jayaseelan; Ingrid Cristian; Devon Haynes; Stephanie DiTroia; Naomi Meeks; Mauricio R. Delgado; Jill A. Rosenfeld; Lynn Pais; Susan M. White; Qingchang Meng; Davut Pehlivan; Pengfei Liu; Marie-Claude Gingras; Michael F. Wangler; Donna M. Muzny; James R. Lupski; Craig D. Kaplan; Richard A. Gibbs
HGG Advances, Vol 2, Iss 1, Pp 100014- (2021)
Academic Journal
Robyn Fossey; David Kochan; Erin Winkler; Joel E. Pacyna; Janet Olson; Stephen Thibodeau; John J. Connolly; Margaret Harr; Meckenzie A. Behr; Cynthia A. Prows; Beth Cobb; Melanie F. Myers; Nancy D. Leslie; Bahram Namjou-Khales; Hila Milo Rasouly; Julia Wynn; Alexander Fedotov; Wendy K. Chung; Ali Gharavi; Janet L. Williams; Lynn Pais; Ingrid Holm; Sharon Aufox; Maureen E. Smith; Aaron Scrol; Kathleen Leppig; Gail P. Jarvik; Georgia L. Wiesner; Rongling Li; Mary Stroud; Jordan W. Smoller; Richard R. Sharp; Iftikhar J. Kullo
Journal of Personalized Medicine, Vol 8, Iss 1, p 2 (2018)
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[AR] Lynn Pais
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