Results 121 to 130 of about 6,916 (192)

TMEM165-CDG [PDF]

, 2020
openaire   +1 more source

Resistant Epilepsy and Developmental Delay in a Syndromic Infant: A Case of Congenital Disorder of Glycosylation Type Ik From India. [PDF]

Cureus
Trivedi S, Suvarna JC, Patel D, Nair P, Vaniawala S, Menon P, Tamhankar V, Tamhankar PM.   +7 more
europepmc   +1 more source

DPM1-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

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

PGM3-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

COG8-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

DPAGT1-CDG [PDF]

, 2020
openaire   +1 more source