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1 Ergebnisse
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Predominant and novel de novo variants in 29 individuals wi..:
Ng, Bobby G
;
Eklund, Erik A
;
Shiryaev, Sergey A
...
qt3x16x320. , 2020
Link:
https://escholarship.org/uc/item/3x16x320
RT Journal T1
Predominant and novel de novo variants in 29 individuals with ALG13 deficiency: Clinical description, biomarker status, biochemical analysis, and treatment suggestions
UL https://suche.suub.uni-bremen.de/peid=base-ftcdlib:oai:escholarship.org:ark:_13030_qt3x16x320&Exemplar=1&LAN=DE A1 Ng, Bobby G A1 Eklund, Erik A A1 Shiryaev, Sergey A A1 Dong, Yin Y A1 Abbott, Mary‐Alice A1 Asteggiano, Carla A1 Bamshad, Michael J A1 Barr, Eileen A1 Bernstein, Jonathan A A1 Chelakkadan, Shabeed A1 Christodoulou, John A1 Chung, Wendy K A1 Ciliberto, Michael A A1 Cousin, Janice A1 Gardiner, Fiona A1 Ghosh, Suman A1 Graf, William D A1 Grunewald, Stephanie A1 Hammond, Katherine A1 Hauser, Natalie S A1 Hoganson, George E A1 Houck, Kimberly M A1 Kohler, Jennefer N A1 Morava, Eva A1 Larson, Austin A A1 Liu, Pengfei A1 Madathil, Sujana A1 McCormack, Colleen A1 Meeks, Naomi JL A1 Miller, Rebecca A1 Monaghan, Kristin G A1 Nickerson, Deborah A A1 Palculict, Timothy Blake A1 Papazoglu, Gabriela Magali A1 Pletcher, Beth A A1 Scheffer, Ingrid E A1 Schenone, Andrea Beatriz A1 Schnur, Rhonda E A1 Si, Yue A1 Rowe, Leah J A1 Russi, Alvaro H Serrano A1 Russo, Rossana Sanchez A1 Thabet, Farouq A1 Tuite, Allysa A1 Villanueva, María Mercedes A1 Wang, Raymond Y A1 Webster, Richard I A1 Wilson, Dorcas A1 Zalan, Alice A1 Network, University of Washington Center for Mendelian Genomics Undiagnosed Diseases A1 Wolfe, Lynne A A1 Rosenfeld, Jill A A1 Rhodes, Lindsay A1 Freeze, Hudson H PB eScholarship, University of California YR 2020 K1 Pediatric K1 Brain Disorders K1 Neurosciences K1 Neurodegenerative K1 Epilepsy K1 Biomarkers K1 Child K1 Preschool K1 Congenital Disorders of Glycosylation K1 Diet K1 Ketogenic K1 Female K1 Glycosylation K1 Humans K1 Infant K1 Male K1 Mutation K1 N-Acetylglucosaminyltransferases K1 Spasms K1 Infantile K1 Transferrin K1 N-linked glycosylation K1 whole exome sequencing K1 Undiagnosed Diseases Network K1 University of Washington Center for Mendelian Genomics K1 Clinical Sciences K1 Genetics & Heredity JF qt3x16x320 LK http://dx.doi.org/https://escholarship.org/uc/item/3x16x320 DO https://escholarship.org/uc/item/3x16x320 SF ELIB - SuUB Bremen
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