Results 91 to 100 of about 6,717 (197)

Extensive Hypoglycosylation of Serum N-Glycoproteins in SRD5A3 Deficiency. [PDF]

J Inherit Metab Dis
Jain A, Budhraja R, Garapati K, Lam C, Schultz MJ, Kozicz T, Morava E, Pandey A.   +7 more
europepmc   +1 more source

DK1-CDG [PDF]

, 2020
openaire   +1 more source

Targeted long-read RNA sequencing for rare disease diagnosis and variant interpretation. [PDF]

Sci Adv
Wang R, Wang F, DeBruyne N, Ji X, Engelhardt NM, Park JJ, Notaro A, Gaerlan S, Park R, Schultz MJ, Clever S, McCormick EM, Keith K, Ng BG, Kadash-Edmondson KE, Freeze HH, Lam CT, Morava E, Helbig I, Falk MJ, Ganetzky RD, Edmondson AC, Lin L, Xing Y.   +23 more
europepmc   +1 more source

STT3B-CDG [PDF]

, 2020
openaire   +1 more source

Expanded Clinical Spectrum of Autosomal-Dominant STT3A-CDG. [PDF]

Biomolecules
Al-Shahrani H, Szabó E, Staccone C, MacDonald G, Furuta Y, Schecter D, Edmondson AC, McRae A, Baker J, Morava E, Tinker RJ.   +10 more
europepmc   +1 more source

MPDU1-CDG [PDF]

, 2020
openaire   +1 more source

Novel Compound Heterozygous Variants in the COG5 Gene Causing Fetal Hydrops and Skeletal Dysplasia. [PDF]

Mol Genet Genomic Med
Yang Q, He W, Zhang Q, Yi S, Zhou X, Wang L, Yi S, Qin Z, Luo J.   +8 more
europepmc   +1 more source

ALG12-CDG [PDF]

, 2020
openaire   +1 more source

Early neonatal diagnosis of SSR4-related congenital disorder of glycosylation with severe congenital heart defects: a case report and systematic review. [PDF]

Front Pediatr
Zhao L, Zeng L, Yi M, Yuan W.
europepmc   +1 more source

MAN1B1-CDG [PDF]

, 2020
openaire   +1 more source