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BMJ Case Reports|April 8, 2024
Role of physical therapy intervention in acute disseminated encephalomyelitisSanjay Tejraj Parmar, Charulata Deshpande, Dipti Sambhajirao Kadam
Clinical Dysmorphology|March 15, 2006
Visual impairment and prolonged survival in a girl with Marshall-Smith syndromeCharulata Deshpande, Michael Forrest, Isabelle Russell-Eggitt, et al.
The Journal of the Association of Physicians of India|August 17, 2020
Appraisal of Critically Ill COVID-19 Patients at a Dedicated COVID HospitalRakesh Bhadade, Minal Harde, Rosemarie deSouza, et al.
Journal of Child Neurology|February 1, 2012
3p interstitial deletion: novel case report and reviewAndreea Cristina Ţuţulan-Cunită, Sorina Mihaela Papuc, Aurora Arghir, et al.
Neuromuscular Disorders : NMD|May 18, 2010
The pathogenic m.3243A>T mitochondrial DNA mutation is associated with a variable neurological phenotypeCharlotte L Alston, Andreas Bender, Iain P Hargreaves, et al.
European Journal of Medical Genetics|December 23, 2023
Deep intronic variant causes aberrant splicing of ATP7A in a family with a variable occipital horn syndrome phenotypeJ Robert Harkness, Huw B Thomas, Jill E Urquhart, et al.
American Journal of Medical Genetics. Part A|May 14, 2011
Type 1 collagenopathy presenting with a Russell-Silver phenotypeMichael J Parker, Charulata Deshpande, Julia Rankin, et al.
Archives of Disease in Childhood|September 5, 2019
Exome sequencing in patients with antiepileptic drug exposure and complex phenotypesAdam Jackson, Heather Ward, Rebecca Louise Bromley, et al.
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