학술논문
'학술논문'
에서 검색결과 205건 | 목록
1~10
Academic Journal
Shah, Rameen; Eklund, Erik A.; Radenkovic, Silvia; Sadek, Mustafa; Shammas, Ibrahim; Verberkmoes, Sanne; Ng, Bobby G.; Freeze, Hudson H.; Edmondson, Andrew C.; He, Miao; Kozicz, Tamas; Altassan, Ruqaiah; Morava, Eva
In Molecular Genetics and Metabolism June 2024 142(2)
Academic Journal
In Molecular Genetics and Metabolism May 2024 142(1)
Academic Journal
In Journal of Biological Chemistry January 2023 299(1)
Academic Journal
Raynor, Alexandre; Haouari, Walid; Ng, Bobby G.; Cholet, Sophie; Harroche, Annie; Raulet-Bussian, Celia; Lounis-Ouaras, Samra; Vuillaumier-Barrot, Sandrine; Pascreau, Tiffany; Borgel, Delphine; Freeze, Hudson H.; Fenaille, François; Bruneel, Arnaud
In Clinica Chimica Acta October 2021 521:104-106
Academic Journal
del Caño-Ochoa, Francisco; Ng, Bobby G.; Abedalthagafi, Malak; Almannai, Mohammed; Cohn, Ronald D.; Costain, Gregory; Elpeleg, Orly; Houlden, Henry; Karimiani, Ehsan Ghayoor; Liu, Pengfei; Manzini, M. Chiara; Maroofian, Reza; Muriello, Michael; Al-Otaibi, Ali; Patel, Hema; Shimon, Edvardson; Sutton, V. Reid; Toosi, Mehran Beiraghi; Wolfe, Lynne A.; Rosenfeld, Jill A.; Freeze, Hudson H.; Ramón-Maiques, Santiago
In Genetics in Medicine October 2020 22(10):1598-1605
Academic Journal
Duan, Ruizhi; Marafi, Dana; Xia, Zhi‐Jie; Ng, Bobby G.; Maroofian, Reza; Sumya, Farhana Taher; Saad, Ahmed K.; Du, Haowei; Fatih, Jawid M.; Hunter, Jill V.; Elbendary, Hasnaa M.; Baig, Shahid M.; Abdullah, Uzma; Ali, Zafar; Efthymiou, Stephanie; Murphy, David; Mitani, Tadahiro; Withers, Marjorie A.; Jhangiani, Shalini N.; Coban‐Akdemir, Zeynep
Journal of Inherited Metabolic Disease; Nov2023, Vol. 46 Issue 6, p1195-1205, 11p
Academic Journal
del Caño‐Ochoa, Francisco; Ng, Bobby G.; Rubio‐del‐Campo, Antonio; Mahajan, Sonal; Wilson, Matthew P.; Vilar, Marçal; Rymen, Daisy; Sánchez‐Pintos, Paula; Kenny, Joanna; Ley Martos, Myriam; Campos, Teresa; Wortmann, Saskia B.; Freeze, Hudson H.; Ramón‐Maiques, Santiago
Journal of Inherited Metabolic Disease; Nov2023, Vol. 46 Issue 6, p1170-1185, 16p
Academic Journal
Xia, Zhi‐Jie; Ng, Bobby G.; Jennions, Elizabeth; Blomqvist, Maria; Wiklund, Anneli Sandqvist; Hedberg‐Oldfors, Carola; Gonzalez, Carlos Rodriguez; Freeze, Hudson H.; Ygberg, Sofia; Eklund, Erik A.
JIMD Reports. January 2023, Vol. 64 Issue 1, p79, 11 p.
Book
In Emery and Rimoin's Principles and Practice of Medical Genetics and Genomics Edition: Seventh Edition. 2021:157-181
Academic Journal
Dang Do, An N.; Chang, Irene J.; Jiang, Xutian; Wolfe, Lynne A.; Ng, Bobby G.; Lam, Christina; Schnur, Rhonda E.; Allis, Katrina; Hansikova, Hana; Ondruskova, Nina; O'Connor, Shawn D.; Sanchez‐Valle, Amarilis; Vollo, Arve; Wang, Raymond Y.; Wolfenson, Zoe; Perreault, John; Ory, Daniel S.; Freeze, Hudson H.; Merritt, J. Lawrence; Porter, Forbes D.
Journal of Inherited Metabolic Disease; Mar2023, Vol. 46 Issue 2, p326-334, 9p
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[AR] Ng, Bobby G.
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