Showing results (1-10 of 58) with videos related to

Sort By:
Pageof 6
American Journal of Medical Genetics. Part A|December 4, 2004
Carbimazole embryopathy: an emerging phenotypeNicola Foulds, Ian Walpole, Frances Elmslie, et al.
World Neurosurgery|February 23, 2019
Leukoencephalopathy, Intracranial Calcifications, Cysts, and SNORD118 Mutation (Labrune Syndrome) with Obstructive HydrocephalusAnan Shtaya, Frances Elmslie, Yanick Crow, et al.
American Journal of Medical Genetics. Part A|September 21, 2004
A new neocentromere locus on chromosome 13 resulting in mosaic tetrasomy for distal 13q and an asymmetric phenotypeJulian Barwell, Roberto Mazzaschi, Sue Bint, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|August 18, 2018
GLUT-1 deficiency presenting with seizures and reversible leukoencephalopathy on MRI imagingNaila Ismayilova, Yael Hacohen, Andrew D MacKinnon, et al.
European Journal of Human Genetics : EJHG|November 1, 2022
Scope of professional roles for genetic counsellors and clinical geneticists in the United Kingdom : Position on behalf of the Association of Genetic Nurses and Counsellors and the Clinical Genetics SocietyAnna Middleton, Nicola Taverner, Catherine Houghton, et al.
Epilepsia|December 5, 2008
A case report of a family with overlapping features of autosomal dominant febrile seizures and GEFS+Neeti Hindocha, Rima Nabbout, Frances Elmslie, et al.
BMJ Open|July 11, 2019
How should health policy and practice respond to the increased genetic risk associated with close relative marriage? results of a UK Delphi consensus building exerciseSarah Salway, Edanur Yazici, Nasaim Khan, et al.
American Journal of Medical Genetics. Part A|August 2, 2005
Molecular and phenotypic characterization of ring chromosome 22Aaron R Jeffries, Sarah Curran, Frances Elmslie, et al.
Neurobiology of Disease|June 21, 2005
The CHRNB2 mutation I312M is associated with epilepsy and distinct memory deficitsDaniel Bertrand, Frances Elmslie, Elaine Hughes, et al.
BJU International|June 5, 2009
Angiomyolipomata: challenges, solutions, and future prospects based on over 100 cases treatedPrasanna Sooriakumaran, Philippa Gibbs, Geoffrey Coughlin, et al.
Pageof 6