Cynthia Gubbels

Cynthia Gubbels

Harvard University - Cambridge / United States
Natural Sciences / Molecular Biology & Genetics
AD Scientific Index ID: 1411868
person_outline Cynthia Gubbels's MOST POPULAR ARTICLES
1-) International clinical guideline for the management of classical galactosemia: diagnosis, treatment, and follow-upL Welling, LE Bernstein, GT Berry, AB Burlina, F Eyskens, M Gautschi, ...Journal of inherited metabolic disease 40, 171-176, 20172082017
2-) The adult galactosemic phenotypeSE Waisbren, NL Potter, CM Gordon, RC Green, P Greenstein, ...Journal of Inherited Metabolic Disease: Official Journal of the Society for …, 20122062012
3-) Ovarian function in girls and women with GALT-deficiency galactosemiaJL Fridovich-Keil, CS Gubbels, JB Spencer, RD Sanders, JA Land, ...Journal of inherited metabolic disease 34 (2), 357-366, 20111292011
4-) Gonadal function in male and female patients with classic galactosemiaME Rubio-Gozalbo, CS Gubbels, JA Bakker, P Menheere, W Wodzig, ...Human reproduction update 16 (2), 177-188, 20101312010
5-) Prospective, phenotype-driven selection of critically ill neonates for rapid exome sequencing is associated with high diagnostic yieldCS Gubbels, GE VanNoy, JA Madden, D Copenheaver, S Yang, ...Genetics in Medicine 22 (4), 736-744, 20201002020