Juan Pié

Mutations in Cohesin Complex Members SMC3 and SMC1A Cause a Mild Variant of Cornelia de Lange Syndrome with Predominant Mental Retardation

Matthew A. Deardorff, Maninder Kaur, Dinah Yaeger et al. · The American Journal of Human Genetics · 2007 · 522 citations · Full text

Life Sciences, Genetics, Molecular Genetics +6

Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked inheritance

Frank J. Kaiser, Morad Ansari, Diana Braunholz et al. · Human Molecular Genetics · 2014 · 152 citations · Full text

Life Sciences, Genetics, Molecular Genetics +13

Role of Pinoline and Melatonin in Stabilizing Hepatic Microsomal Membranes against Oxidative Stress

Joaquín J. García, Rüssel J. Reiter, Juan Pié et al. · Journal of Bioenergetics and Biomembranes · 1999 · 97 citations

Pharmacy, Biochemistry, Pharmacology +14

Phenotypes and genotypes in individuals with <i>SMC1A</i> variants

Sylvia Huisman, Paul A. Mulder, E. Redeker et al. · American Journal of Medical Genetics Part A · 2017 · 97 citations · Full text

Medicine, Genetics, Molecular Genetics +13

Facial diagnosis of mild and variant CdLS: Insights from a dysmorphologist survey

Sarika Rohatgi, Dinah Clark, Antonie D. Kline et al. · American Journal of Medical Genetics Part A · 2010 · 94 citations

Medicine, Dermatology, Dermatopathology +7