Raquel M. Fernández

Correlation between SMA type and SMN2 copy number revisited: An analysis of 625 unrelated Spanish patients and a compilation of 2834 reported cases

Maite Calucho, Sara Bernal, Laura Alías et al. · Neuromuscular Disorders · 2018 · 486 citations

Sma Type, Clinical Epidemiology, Genetic Epidemiology +5

Differential Contributions of Rare and Common, Coding and Noncoding Ret Mutations to Multifactorial Hirschsprung Disease Liability

E Emison, Mercè Garcia-Barceló, Elizabeth A. Grice et al. · The American Journal of Human Genetics · 2010 · 241 citations · Full text

Somatic Variant, Noncoding Ret Mutations, Mendelian Disorder +10

Identification of Novel Imidazo[1,2-a]pyridine Inhibitors Targeting M. tuberculosis QcrB

Katherine A. Abrahams, Jonathan A. G. Cox, Vickey L. Spivey et al. · PLoS ONE · 2012 · 176 citations · Full text

Functional Loss of Semaphorin 3C and/or Semaphorin 3D and Their Epistatic Interaction with Ret Are Critical to Hirschsprung Disease Liability

Qian Jiang, Stacey Arnold, Tiffany A. Heanue et al. · The American Journal of Human Genetics · 2015 · 147 citations · Full text

Molecular Biology, Functional Loss, Pathology +2

Asymmetric Aldol Reaction Using Immobilized Proline on Mesoporous Support

Félix Calderón, Raquel M. Fernández, Félix Sánchez et al. · Advanced Synthesis & Catalysis · 2005 · 126 citations