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Predominant and novel de novo variants in 29 individuals wi..:

Ng, Bobby G ; Eklund, Erik A ; Shiryaev, Sergey A...
info:eu-repo/semantics/altIdentifier/url/https://onlinelibrary.wiley.com/doi/10.1002/jimd.12290. ,

Link: http://hdl.handle.net/11336/131439

RT Journal
T1 <Title>Predominant and novel de novo variants in 29 individuals with ALG13 deficiency: Clinical description, biomarker status, biochemical analysis, and treatment suggestions</Title>

UL https://suche.suub.uni-bremen.de/peid=base-ftconicet:oai:ri.conicet.gov.ar:11336_131439&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 Gabriela
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 J.L
A1 Papazoglu, Gabriela Magali
PB Springer
K1 CONGENITAL DISORDERS OF GLYCOSYLATION
K1 EPILEPSY
K1 N-LINKED GLYCOSYLATION
K1 WHOLE EXOME SEQUENCING
K1 https://purl.org/becyt/ford/1.6
K1 https://purl.org/becyt/ford/1
JF info:eu-repo/semantics/altIdentifier/url/https://onlinelibrary.wiley.com/doi/10.1002/jimd.12290
LK http://hdl.handle.net/11336/131439
DO http://hdl.handle.net/11336/131439
SF ELIB - SuUB Bremen

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