Amanote Research
Register
Sign In
Discover open access scientific publications
Search, annotate, share and cite publications
Publications by Barbara Schenk
MPDU1 Mutations Underlie a Novel Human Congenital Disorder of Glycosylation, Designated Type If
Journal of Clinical Investigation
Medicine
Related publications
Congenital Disorder of Glycosylation
Novel Compound Heterozygous COG5 Mutations in a Chinese Male Patient With Severe Clinical Symptoms and Type�IIi Congenital Disorder of Glycosylation: A Case Report
Experimental and Therapeutic Medicine
Medicine
Cancer Research
Immunology
Microbiology
Mutations in HOXD13 Underlie Syndactyly Type v and a Novel Brachydactyly-Syndactyly Syndrome
American Journal of Human Genetics
Genetics
Pathogenic Variants in Fucokinase Cause a Congenital Disorder of Glycosylation
American Journal of Human Genetics
Genetics
PO-0827 Conotruncal Heart Defect in a Patient With Congenital Disorder of Glycosylation Type I
Archives of Disease in Childhood
Child Health
Pediatrics
Perinatology
Novel Mutation and Severe Respiratory Failure in Congenital Disorders of Glycosylation Type Ix
Turkish Journal of Pediatrics
Child Health
Pediatrics
Perinatology
Deficiency of Dolichyl-P-Man:Man7GlcNAc2-Pp-Dolichyl Mannosyltransferase Causes Congenital Disorder of Glycosylation Type Ig
Biochemical Journal
Biochemistry
Cell Biology
Molecular Biology
Congenital Disorder of Glycosylation Type Ia (CDG-Ia): Phenotypic Spectrum of the R141h/F119l Genotype
Archives of Disease in Childhood
Child Health
Pediatrics
Perinatology
Mutations in MAGT1 Lead to a Glycosylation Disorder With a Variable Phenotype
Proceedings of the National Academy of Sciences of the United States of America
Multidisciplinary
