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American Journal of Medical Genetics. Part A|November 14, 2017
Interstitial microdeletion of 17q11.2 is associated with hypotonia, fatigue, intellectual disability, and a subtle facial phenotype in three unrelated patientsDeborah Osio, Julia Rankin, Hannele Koillinen, et al.
American Journal of Medical Genetics. Part A|July 2, 2013
Medulloblastoma in a patient with the PTPN11 p.Thr468Met mutationJulia Rankin, John Short, Peter Turnpenny, et al.
Pediatric Neurosurgery|November 10, 2007
Three sisters with Chiari I malformation with and without associated syringomyeliaJames D Weisfeld-Adams, Michael R Carter, Marcus J Likeman, et al.
American Journal of Medical Genetics. Part A|July 17, 2010
Pontocerebellar hypoplasia type 6: A British case with PEHO-like featuresJulia Rankin, Ruth Brown, William B Dobyns, et al.
Developmental Medicine and Child Neurology|June 6, 2024
Whole genome sequencing for copy number variant detection to improve diagnosis and management of rare diseasesPamela Bowman, Hannah Grimes, Anthony R Dallosso, et al.
Acta Neuropathologica|January 22, 2014
Early dipeptide repeat pathology in a frontotemporal dementia kindred with C9ORF72 mutation and intellectual disabilityMalcolm Proudfoot, Nick J Gutowski, Dieter Edbauer, et al.
BMJ Case Reports|June 23, 2021
Fatal insomnia: the elusive prion diseaseDharmini Patel, Hagar Ibrahim, Julia Rankin, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|May 30, 2009
A dominantly inherited mutation in collagen IV A1 (COL4A1) causing childhood onset stroke without porencephalySiddharth Shah, Yadlapalli Kumar, Brendan McLean, et al.
The Journal of Clinical Endocrinology and Metabolism|March 1, 2007
Origin of de novo KCNJ11 mutations and risk of neonatal diabetes for subsequent siblingsEmma L Edghill, Anna L Gloyn, Anne Goriely, et al.
Developmental Medicine and Child Neurology|May 12, 2012
Childhood presentation of COL4A1 mutationsSiddharth Shah, Sian Ellard, Rachel Kneen, et al.
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