Celia Medrano

CCDC115 Deficiency Causes a Disorder of Golgi Homeostasis with Abnormal Protein Glycosylation

Jos C. Jansen, Sebahattin Çirak, Monique van Scherpenzeel et al. · The American Journal of Human Genetics · 2016 · 97 citations · Full text

Abnormal Protein Glycosylation, Biochemistry, Disease Mechanism +11

A novel congenital disorder of glycosylation type without central nervous system involvement caused by mutations in the phosphoglucomutase 1 gene

Belén Pérez, Celia Medrano, María Jesús Ecay et al. · Journal of Inherited Metabolic Disease · 2012 · 56 citations

Chromosome translocations in couples with multiple spontaneous abortions.

Virginia V. Michels, Celia Medrano, Vickie L. Venne et al. · PubMed · 1982 · 43 citations

A Population-Based Study on Congenital Disorders of Protein N- and Combined with O-Glycosylation Experience in Clinical and Genetic Diagnosis

Celia Pérez‐Cerdá, M. Girós, Mercedes Serrano et al. · The Journal of Pediatrics · 2017 · 40 citations

O-glycosylation Experience, Population-based Study, Mendelian Disorder +10

Molecular diagnosis of glycogen storage disease and disorders with overlapping clinical symptoms by massive parallel sequencing

Ana Vega, Celia Medrano, Rosa Navarrete et al. · Genetics in Medicine · 2016 · 39 citations · Full text

Clinical Symptoms, Sequencing, Mendelian Disorder +14