WitrynaHernan Gonorazky is an academic researcher from University of Toronto. The author has contributed to research in topic(s): Muscle biopsy & Congenital myopathy. The … WitrynaDepartment of Paediatrics 555 University Avenue Black Wing Room 1436 Toronto, ON. M5G 1X8 Phone: 416-813-6122

Clinical, Serological and Pathological Findings of Three Patients …

WitrynaDr. Hernan Gonorazky is a staff neurologist at the Hospital for Sick Children since 2024. He is the neuromuscular fellowship program director of that institution. He currently is … WitrynaHernan Gonorazky Division of Neurology, Hospital for Sick Children, Toronto, Ontario, Canada, M5G A04 Program of Genetics and Genome Biology, Hospital for Sick Children, Toronto, Ontario, Canada, M5G A04 growing cinnamon vine

Child Neurology: RNA Sequencing for the Diagnosis of Lissencephaly

WitrynaGonorazky Hernan Gontero Paolo Gontrand Christian Gontrand Christian González-Burgos Manuel Gonzalez-Cabrera Cristians González-Carballo Juan-Luis Gonzalez Cristians A. Gonzalez Cristiansalejandro ... Witryna31 mar 2024 · Exome and whole-genome sequencing are becoming increasingly routine approaches in Mendelian disease diagnosis. Despite their success, the current diagnostic rate for genomic analyses across a variety of rare diseases is approximately 25-50%. Here, we explore the utility of transcriptome sequencing (RNA-seq) as a … WitrynaHere, we characterize a novel class of congenital myopathy at the morphological, molecular, and functional levels. We describe a cohort of 11 patients from 7 families presenting with perinatal hypotonia, severe axial and generalized weakness. Ophthalmoplegia is present in four patients. growing cipollini onions in containers