Vera Lúcia Gil‐da‐Silva‐Lopes

Deficiency of UBR1, a ubiquitin ligase of the N-end rule pathway, causes pancreatic dysfunction, malformations and mental retardation (Johanson-Blizzard syndrome)

Martin Zenker, Julia Mayerle, Markus M. Lerch et al. · Nature Genetics · 2005 · 270 citations

Protein Quality Control, Autoimmune Disease, Genetics +7

22q11.2 deletion syndrome in diverse populations

Paul Kruszka, Yonit A. Addissie, Daniel E. McGinn et al. · American Journal of Medical Genetics Part A · 2017 · 165 citations · Full text

Ethnicity, Genetics, Genetic Epidemiology +19

Recessive and Dominant De Novo ITPR1 Mutations Cause Gillespie Syndrome

S. Gerber, Kamil J. Alzayady, Lydie Bürglen et al. · The American Journal of Human Genetics · 2016 · 144 citations · Full text

Allelic Variant, Mendelian Disorder, Genetic Disorder +7

Two cases of Y; autosome translocations: A 45, X male and a clinically trisomy 18 patient

Solange B. Farah, Clarisa F. Ramos, Maricilda Palandi de Mello et al. · American Journal of Medical Genetics · 1994 · 82 citations

Neonatal Care of Infants with Cleft Lip and/or Palate: Feeding Orientation and Evolution of Weight Gain in a Nonspecialized Brazilian Hospital

Lívia Gobby Amstalden-Mendes, Luís Alberto Magna, Vera Lúcia Gil‐da‐Silva‐Lopes · The Cleft Palate-Craniofacial Journal · 2006 · 70 citations