Showing results (1-10 of 105) with videos related to
Sort By:
Pageof 11
Archives of Disease in Childhood. Education and Practice Edition|September 6, 2014
How to use… microarray comparative genomic hybridisation to investigate developmental disordersMira Kharbanda, John Tolmie, Shelagh JossEuropean Journal of Medical Genetics|January 5, 2011
The face of Ulnar Mammary syndrome?Shelagh Joss, Usha Kini, Richard Fisher, et al.Clinical Genetics|March 21, 2012
Results of Duchenne muscular dystrophy family screening in practice: leaks rather than cascades?Ruth McGowan, Benjamin R Challoner, Sarah Ross, et al.Clinical Dysmorphology|October 29, 2002
A Schinzel-Giedion-like syndrome--a milder version or a separate condition?Shelagh Joss, John C S DeanScientific Reports|September 2, 2022
Identification and analysis of deletion breakpoints in four Mohr-Tranebjærg syndrome (MTS) patientsNanna Dahl Rendtorff, Helena Gásdal Karstensen, Marianne Lodahl, et al.Journal of Pediatric Endocrinology & Metabolism : JPEM|November 9, 2016
A case of 46,XX dysgenesis and marked tall stature; the need for caution in interpreting array comparative genomic hybridization (CGH)Vidya Kanamkote Narayanan, Mira Kharbanda, Malcolm DonaldsonClinical Dysmorphology|July 19, 2003
Cranial magnetic resonance imaging mistakenly suggests prenatal ischaemia in PEHO-like syndromeCheryl Longman, John Tolmie, Robert McWilliam, et al.European Journal of Medical Genetics|May 3, 2016
Partial deletion of TCF4 in three generation family with non-syndromic intellectual disability, without features of Pitt-Hopkins syndromeMira Kharbanda, Kaja Kannike, Anne Lampe, et al.European Journal of Medical Genetics|March 14, 2017
A further case of brain-lung-thyroid syndrome with deletion proximal to NKX2-1Mira Kharbanda, Pia Hermanns, Jeremy Jones, et al.Archives of Disease in Childhood. Education and Practice Edition|August 29, 2024
Challenging case of hypernatraemia in infancyKatherine Hawton, Louise Galloway, Matthew Harmer, et al.Pageof 11