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Journal of Medical Case Reports|July 2, 2020
Insulinoma presenting as hypoglycemia during lactose tolerance testing: a case reportVicki Munro, Laura M McDonell, Valerie Keough, et al.Pancreas|June 17, 2020
Comparing Pathology Report Quality Indicators in 2 Distinct Whipple Resection Specimen ProtocolsRyan DeCoste, Laura M McDonell, Drea Uzans, et al.Human Molecular Genetics|July 9, 2015
Receptor tyrosine kinase mutations in developmental syndromes and cancer: two sides of the same coinLaura M McDonell, Kristin D Kernohan, Kym M Boycott, et al.BMC Neurology|February 1, 2014
The utility of exome sequencing for genetic diagnosis in a familial microcephaly epilepsy syndromeLaura M McDonell, Jodi Warman Chardon, Jeremy Schwartzentruber, et al.Annals of Clinical and Translational Neurology|April 7, 2025
FGF14 GAA Intronic Expansion in Unsolved Adult-Onset Ataxia in the Care4Rare Canada ConsortiumAlexanne Cuillerier, Giulia F Del Gobbo, Layla Mackay, et al.American Journal of Human Genetics|March 5, 2016
Mosaic Activating Mutations in FGFR1 Cause Encephalocraniocutaneous LipomatosisJames T Bennett, Tiong Yang Tan, Diana Alcantara, et al.Nature Genetics|April 2, 2013
Mutations in STAMBP, encoding a deubiquitinating enzyme, cause microcephaly-capillary malformation syndromeLaura M McDonell, Ghayda M Mirzaa, Diana Alcantara, et al.Cell|February 24, 2018
A Mild PUM1 Mutation Is Associated with Adult-Onset Ataxia, whereas Haploinsufficiency Causes Developmental Delay and SeizuresVincenzo A Gennarino, Elizabeth E Palmer, Laura M McDonell, et al.Pageof 1