Ng, Bobby G.

PRODUCCION CIENTÍFICO TECNOLÓGICA

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Artículo Encephalopathy caused by novel mutations in the CMP-sialic acid transporter, SLC35A1

Ng, Bobby G.; Asteggiano, Carla Gabriela ; Kircher, Martin; Buckingham, Kati J.; Raymond, Kimiyo; Nickerson, Deborah A.; Shendure, Jay; Bamshad, Michael J.; Ensslen, Matthias; Freeze, Hudson H. (Wiley-liss, div John Wiley & Sons Inc., 2017-11)
Artículo Predominant and novel de novo variants in 29 individuals with ALG13 deficiency: Clinical description, biomarker status, biochemical analysis, and treatment suggestions

Ng, Bobby G.; Eklund, Erik A.; Shiryaev, Sergey A.; Dong, Yin Y.; Abbott, Mary Alice; Asteggiano, Carla Gabriela ; Bamshad, Michael J.; Barr, Eileen; Bernstein, Jonathan A.; Chelakkadan, Shabeed; Christodoulou, John; Chung, Wendy K.; Ciliberto, Michael A.; Cousin, Janice; Gardiner, Fiona; Ghosh, Suman; Graf, William D.; Grunewald, Stephanie; Hammond, Katherine; Hauser, Natalie S.; Hoganson, George E.; Houck, Kimberly M.; Kohler, Jennefer N.; Morava, Eva; Larson, Austin A.; Liu, Pengfei; Madathil, Sujana; McCormack, Colleen; Meeks, Naomi J.L.; Papazoglu, Gabriela Magali (Springer, 2020-11)

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