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Human mutation, 2014-11, Vol.35 (11), p.1311-1320
2014
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Epilepsia (Copenhagen), 2006-09, Vol.47 (9), p.1504-1509
2006
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Case reports in pediatrics, 2019-01, Vol.2019, p.2862916-3
2019
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Case reports in pediatrics, 2019-10, Vol.2019, p.1-4
2019
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Gut pathogens, 2020-02, Vol.12 (1), p.6-6, Article 6
2020
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Human molecular genetics, 2011-11, Vol.20 (22), p.4430-4439
2011
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The New England journal of medicine, 2010-06, Vol.362 (22), p.2092-2101
- Khor, Chiea C
- Vannberg, Fredrik O
- Chapman, Stephen J
- Guo, Haiyan
- Wong, Sunny H
- Walley, Andrew J
- Vukcevic, Damjan
- Rautanen, Anna
- Mills, Tara C
- Chang, Kwok-Chiu
- Kam, Kai-Man
- Crampin, Amelia C
- Ngwira, Bagrey
- Leung, Chi-Chiu
- Tam, Cheuk-Ming
- Chan, Chiu-Yeung
- Sung, Joseph J.Y
- Yew, Wing-Wai
- Toh, Kai-Yee
- Tay, Stacey K.H
- Kwiatkowski, Dominic
- Lienhardt, Christian
- Hien, Tran-Tinh
- Day, Nicholas P
- Peshu, Nobert
- Marsh, Kevin
- Maitland, Kathryn
- Scott, J. Anthony
- Williams, Thomas N
- Berkley, James A
- Floyd, Sian
- Tang, Nelson L.S
- Fine, Paul E.M
- Goh, Denise L.M
- Hill, Adrian V.S
2010
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Journal of cachexia, sarcopenia and muscle, 2023-06, Vol.14 (3), p.1482-1494
2023
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Nature communications, 2019-12, Vol.10 (1), p.5808-14, Article 5808
- Migliavacca, Eugenia
- Tay, Stacey K H
- Patel, Harnish P
- Sonntag, Tanja
- Civiletto, Gabriele
- McFarlane, Craig
- Forrester, Terence
- Barton, Sheila J
- Leow, Melvin K
- Antoun, Elie
- Charpagne, Aline
- Seng Chong, Yap
- Descombes, Patrick
- Feng, Lei
- Francis-Emmanuel, Patrice
- Garratt, Emma S
- Giner, Maria Pilar
- Green, Curtis O
- Karaz, Sonia
- Kothandaraman, Narasimhan
- Marquis, Julien
- Metairon, Sylviane
- Moco, Sofia
- Nelson, Gail
- Ngo, Sherry
- Pleasants, Tony
- Raymond, Frederic
- Sayer, Avan A
- Ming Sim, Chu
- Slater-Jefferies, Jo
- Syddall, Holly E
- Fang Tan, Pei
- Titcombe, Philip
- Vaz, Candida
- Westbury, Leo D
- Wong, Gerard
- Yonghui, Wu
- Cooper, Cyrus
- Sheppard, Allan
- Godfrey, Keith M
- Lillycrop, Karen A
- Karnani, Neerja
- Feige, Jerome N
2019
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Pediatric neurology, 2024-01, Vol.150, p.57-62
2024
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Journal of inherited metabolic disease, 2020-09, Vol.43 (5), p.1131-1142
- Zhao, Piming
- Liu, Isaac D.
- Hodgin, Jeffrey B.
- Benke, Peter I.
- Selva, Jeremy
- Torta, Federico
- Wenk, Markus R.
- Endrizzi, James A.
- West, Olivia
- Ou, Weixing
- Tang, Emily
- Goh, Denise Li‐Meng
- Tay, Stacey Kiat‐Hong
- Yap, Hui‐Kim
- Loh, Alwin
- Weaver, Nicole
- Sullivan, Bonnie
- Larson, Austin
- Cooper, Megan A.
- Alhasan, Khalid
- Alangari, Abdullah A.
- Salim, Suha
- Gumus, Evren
- Chen, Karin
- Zenker, Martin
- Hildebrandt, Friedhelm
- Saba, Julie D.
2020
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Autism : the international journal of research and practice, 2021-08, Vol.25 (6), p.1592-1600
2021
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PloS one, 2014-12, Vol.9 (12), p.e113258-e113258
2014
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The Journal of molecular diagnostics : JMD, 2021-08, Vol.23 (8), p.941-951
2021
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Pediatric transplantation, 2020-09, Vol.24 (6), p.e13740-n/a
2020
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Brain (London, England : 1878), 2013-12, Vol.136 (Pt 12), p.3634-3644
- KRIEGER, Michael
- ROOS, Andreas
- FINKEL, Richard S
- GOEBEL, Hans H
- HÄUSSLER, Martin
- KINGSTON, Helen
- KIRSCHNER, Janbernd
- MEDNE, Livija
- MUSCHKE, Petra
- RIVIER, François
- RUDNIK-SCHÖNEBORN, Sabine
- SPENGLER, Sabrina
- STENDEL, Claudia
- INZANA, Francesca
- STANZIAL, Franco
- BENEDICENTI, Francesco
- SYNOFZIK, Matthis
- TARATUTO, Ana Lia
- PIRRA, Laura
- TAY STACEY, Kiat-Hong
- TOPALOGLU, Haluk
- UYANIK, Gökhan
- WAND, Dorothea
- CLAEYS, Kristl G
- WILLIAMS, Denise
- ZERRES, Klaus
- WEIS, Joachim
- SENDEREK, Jan
- SONMEZ, Fatma Mujgan
- BAUDIS, Michael
- BAUER, Peter
- BORNEMANN, Antje
- DE GOEDE, Christian
- DUFKE, Andreas
2013
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Annals of human genetics, 2013-09, Vol.77 (5), p.435-463
2013
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Molecular genetics and metabolism, 2011-03, Vol.102 (3), p.364-367
2011
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American journal of medical genetics. Part C, Seminars in medical genetics, 2019-06, Vol.181 (2), p.230-244
2019
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Nature communications, 2021-09, Vol.12 (1), p.5529-5529, Article 5529
- Kuseyri Hübschmann, Oya
- Horvath, Gabriella
- Cortès-Saladelafont, Elisenda
- Yıldız, Yılmaz
- Mastrangelo, Mario
- Pons, Roser
- Friedman, Jennifer
- Mercimek-Andrews, Saadet
- Wong, Suet-Na
- Pearson, Toni S.
- Zafeiriou, Dimitrios I.
- Kulhánek, Jan
- Kurian, Manju A.
- López-Laso, Eduardo
- Oppebøen, Mari
- Kılavuz, Sebile
- Wassenberg, Tessa
- Goez, Helly
- Scholl-Bürgi, Sabine
- Porta, Francesco
- Honzík, Tomáš
- Santer, René
- Burlina, Alberto
- Sivri, H. Serap
- Leuzzi, Vincenzo
- Hoffmann, Georg F.
- Jeltsch, Kathrin
- Hübschmann, Daniel
- Garbade, Sven F.
- Assmann, Birgit
- Fung, Cheuk-Wing
- Guder, Philipp
- Hong, Stacey Tay Kiat
- Karall, Daniela
- Kato, Mitsuhiro
- Kavecan, Ivana
- Koht, Jeanette Aimee
- Kuster, Alice
- Lücke, Thomas
- Manti, Filippo
- Mir, Pablo
- Mühlhausen, Chris
- Önenli Mungan, Halise Neslihan
- Palacios, Natalia Alexandra Julia
- Ramos, Joaquín Alejandro Fernández
- Steel, Dora
- Stevanović, Galina
- Sykut-Cegielska, Jolanta
- Verbeek, Marcel M.
- García-Cazorla, Angeles
- Opladen, Thomas
2021
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Clinical chemistry (Baltimore, Md.), 2006-08, Vol.52 (8), p.1492-1500
2006
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PloS one, 2014-03, Vol.9 (6), p.e90852
- Utami, Kagistia H
- Hillmer, Axel M
- Aksoy, Irene
- Chew, Elaine G Y
- Teo, Audrey S M
- Zhang, Zhenshui
- Lee, Charlie W H
- Chen, Pauline J
- Seng, Chan Chee
- Ariyaratne, Pramila N
- Rouam, Sigrid L
- Soo, Lim Seong
- Yousoof, Saira
- Prokudin, Ivan
- Peters, Gregory
- Collins, Felicity
- Wilson, Meredith
- Kakakios, Alyson
- Haddad, Georges
- Menuet, Arnaud
- Perche, Olivier
- Tay, Stacey Kiat Hong
- Sung, Ken W K
- Ruan, Xiaoan
- Ruan, Yijun
- Liu, Edison T
- Briault, Sylvain
- Jamieson, Robyn V
- Davila, Sonia
- Cacheux, Valere
- El-Maarri, Osman
2014
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Journal of molecular medicine (Berlin, Germany), 2019-11, Vol.97 (11), p.1557-1566
2019
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Nature metabolism, 2024-03, Vol.6 (3), p.433
- Membrez, Mathieu
- Migliavacca, Eugenia
- Christen, Stefan
- Yaku, Keisuke
- Trieu, Jennifer
- Lee, Alaina K
- Morandini, Francesco
- Giner, Maria Pilar
- Stiner, Jade
- Makarov, Mikhail V
- Garratt, Emma S
- Vasiloglou, Maria F
- Chanvillard, Lucie
- Dalbram, Emilie
- Ehrlich, Amy M
- Sanchez-Garcia, José Luis
- Canto, Carles
- Karagounis, Leonidas G
- Treebak, Jonas T
- Migaud, Marie E
- Heshmat, Ramin
- Razi, Farideh
- Karnani, Neerja
- Ostovar, Afshin
- Farzadfar, Farshad
- Tay, Stacey K H
- Sanders, Matthew J
- Lillycrop, Karen A
- Godfrey, Keith M
- Nakagawa, Takashi
- Moco, Sofia
- Koopman, René
- Lynch, Gordon S
- Sorrentino, Vincenzo
- Feige, Jerome N
2024
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Annals of the Academy of Medicine, Singapore, 2016-11, Vol.45 (11), p.507-512
2016
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