Search research articles
Contact Us
Filters
Showing results (1-10 of 38) with videos related to
Page
of 4
Sort By:
Muscle & Nerve
|
October 15, 2011
Exclusion of WWP1 mutations in a cohort of dystroglycanopathy patients
Caroline Godfrey, Emma Clement, Stephen Abbs, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society
|
July 1, 2008
Differential diagnosis of congenital muscular dystrophies
Andrea Klein, Emma Clement, Eugenio Mercuri, et al.
Current Opinion in Genetics & Development
|
March 15, 2011
Dystroglycanopathies: coming into focus
Caroline Godfrey, A Reghan Foley, Emma Clement, et al.
The Laryngoscope
|
June 30, 2026
ATP6V1B1-A Novel Genetic Association Between Pendred Imaging Phenotype and Renal Tubular Acidosis
Sandeep Govindan Prasad, Emma Clement, M H Lequin, et al.
European Journal of Human Genetics : EJHG
|
June 21, 2020
Delivering genome sequencing for rapid genetic diagnosis in critically ill children: parent and professional views, experiences and challenges
Melissa Hill, Jennifer Hammond, Celine Lewis, et al.
American Journal of Medical Genetics. Part A
|
August 14, 2025
Retinal Degeneration Diagnosed at 12 and 13 Months and Sensorineural Hearing Loss in Two Unrelated Female Infants With PRS Deficiency
David Zocche, Mariya Moosajee, Alpana M Kulkarni, et al.
Neuroradiology
|
January 30, 2023
The spectrum of cochlear malformations in CHARGE syndrome and insights into the role of the CHD7 gene during embryogenesis of the inner ear
Martin A Lewis, Amy Juliano, Caroline Robson, et al.
Neuromuscular Disorders : NMD
|
January 17, 2021
Persistently elevated CK and lysosomal storage myopathy associated with mucolipin 1 defects
Alberto A Zambon, Alexandra Lemaigre, Rahul Phadke, et al.
Neuroradiology
|
June 14, 2025
The cochlear basal turn as a very preserved region in cochlear hypoplasias: radiological and embryological considerations from a cohort of 125 patients
Antonio Messina, Emma Clement, Bernadette De Bakker, et al.
Clinical Endocrinology
|
December 21, 2020
Syndromic Forms of Hyperinsulinaemic Hypoglycaemia-A 15-year follow-up Study
Eirini Kostopoulou, Antonia Dastamani, Maria Güemes, et al.
Page
of 4
Search research articles
Search
Showing results (1-10 of 38) with videos related to
Sort By:
Page
of 4
Muscle & Nerve
|
October 15, 2011
Exclusion of WWP1 mutations in a cohort of dystroglycanopathy patients
Caroline Godfrey, Emma Clement, Stephen Abbs, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society
|
July 1, 2008
Differential diagnosis of congenital muscular dystrophies
Andrea Klein, Emma Clement, Eugenio Mercuri, et al.
Current Opinion in Genetics & Development
|
March 15, 2011
Dystroglycanopathies: coming into focus
Caroline Godfrey, A Reghan Foley, Emma Clement, et al.
The Laryngoscope
|
June 30, 2026
ATP6V1B1-A Novel Genetic Association Between Pendred Imaging Phenotype and Renal Tubular Acidosis
Sandeep Govindan Prasad, Emma Clement, M H Lequin, et al.
European Journal of Human Genetics : EJHG
|
June 21, 2020
Delivering genome sequencing for rapid genetic diagnosis in critically ill children: parent and professional views, experiences and challenges
Melissa Hill, Jennifer Hammond, Celine Lewis, et al.
American Journal of Medical Genetics. Part A
|
August 14, 2025
Retinal Degeneration Diagnosed at 12 and 13 Months and Sensorineural Hearing Loss in Two Unrelated Female Infants With PRS Deficiency
David Zocche, Mariya Moosajee, Alpana M Kulkarni, et al.
Neuroradiology
|
January 30, 2023
The spectrum of cochlear malformations in CHARGE syndrome and insights into the role of the CHD7 gene during embryogenesis of the inner ear
Martin A Lewis, Amy Juliano, Caroline Robson, et al.
Neuromuscular Disorders : NMD
|
January 17, 2021
Persistently elevated CK and lysosomal storage myopathy associated with mucolipin 1 defects
Alberto A Zambon, Alexandra Lemaigre, Rahul Phadke, et al.
Neuroradiology
|
June 14, 2025
The cochlear basal turn as a very preserved region in cochlear hypoplasias: radiological and embryological considerations from a cohort of 125 patients
Antonio Messina, Emma Clement, Bernadette De Bakker, et al.
Clinical Endocrinology
|
December 21, 2020
Syndromic Forms of Hyperinsulinaemic Hypoglycaemia-A 15-year follow-up Study
Eirini Kostopoulou, Antonia Dastamani, Maria Güemes, et al.
Page
of 4