María A. Ramos‐Arroyo

Huntington's disease in venezuela: 7 years of follow‐up on symptomatic and asymptomatic individuals

John B. Penney, Anne B. Young, Ira Shoulson et al. · Movement Disorders · 1990 · 219 citations · Full text

A Comparative Phenotypic Study of Kallmann Syndrome Patients Carrying Monoallelic and Biallelic Mutations in the Prokineticin 2 or Prokineticin Receptor 2 Genes

Julie Sarfati, Anne Guiochon‐Mantel, Philippe Rondard et al. · The Journal of Clinical Endocrinology & Metabolism · 2009 · 145 citations

Down syndrome: characterisation of a case with partial trisomy of chromosome 21 owing to a paternal balanced translocation (15;21) (q26;q22.1) by FISH.

Marga Nadal, Sira Moreno, Melanie Pritchard et al. · Journal of Medical Genetics · 1997 · 109 citations · Full text

Cytogenetics, Genetics, Paternal Balanced Translocation +16

Weaver Syndrome‐Associated EZH2 Protein Variants Show Impaired Histone Methyltransferase Function In Vitro

Ana S.A. Cohen, Damian Yap, M. E. Suzanne Lewis et al. · Human Mutation · 2015 · 85 citations · Full text

Histone Modifications, Functional Studies, Epigenetic Change +17

Incidence and mutation rates of Huntington's disease in Spain: experience of 9 years of direct genetic testing

María A. Ramos‐Arroyo · Journal of Neurology Neurosurgery & Psychiatry · 2005 · 76 citations · Full text