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BIBTEX RIS

Predominant and novel de novo variants in 29 individuals with ALG13 deficiency: Clinical description, biomarker status, biochemical analysis, and treatment suggestions

2020; Springer Science+Business Media; Volume: 43; Issue: 6 Linguagem: Inglês

10.1002/jimd.12290

ISSN

1573-2665

Autores

Bobby G. Ng, Erik A. Eklund, Sergey A. Shiryaev, Yin Yao Dong, Mary‐Alice Abbott, Carla Asteggiano, Michael J. Bamshad, Eileen Barr, Jonathan A. Bernstein, Shabeed Chelakkadan, John Christodoulou, Wendy K. Chung, Michael A. Ciliberto, Janice Cousin, Fiona Gardiner, Suman Ghosh, W. Graf, Stephanie Grünewald, Katherine Hammond, Natalie Hauser, George Hoganson, Kimberly Houck, Jennefer N. Kohler, Éva Morava, Austin Larson, Pengfei Liu, Sujana Madathil, Colleen E. McCormack, Naomi Meeks, Rebecca L. Miller, Kristin G. Monaghan, Deborah A. Nickerson, Timothy Blake Palculict, Gabriela M. Papazoglu, Beth A. Pletcher, Ingrid E. Scheffer, Andrea Schenone, Rhonda E. Schnur, Yue Si, Leah J. Rowe, Alvaro H. Serrano Russi, Rossana Sanchez Russo, Farouq Thabet, Allysa Tuite, Marıá Mercedes Villanueva, Raymond Wang, Richard Webster, Dorcas Wilson, Alice Zalan, Lynne A. Wolfe, Jill A. Rosenfeld, Lindsay Rhodes, Hudson H. Freeze,

Tópico(s)

Biochemical and Molecular Research

Referência(s)