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Ellen Crushell

Showing results (21-30 of 66) with videos related to

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JIMD Reports|June 27, 2019
Ten-year retrospective review (2003-2013) of 56 inpatient admissions to stabilize elevated phenylalanine levelsAnne Clark, Christine Merrigan, Ellen Crushell, et al.
JIMD Reports|July 30, 2015
Friedreich Ataxia in Classical GalactosaemiaSiobhán Neville, Siobhan O'Sullivan, Bronagh Sweeney, et al.
Therapeutic Advances in Rare Disease|May 14, 2023
IMPACT study: measuring the impact of caregiving on families and healthcare professionals of children and adults living with mucopolysaccharidoses in IrelandSuja Somanadhan, Hannah Bristow, Ellen Crushell, et al.
Clinical Dysmorphology|June 14, 2016
Beaulieu-Boycott-Innes syndrome: an intellectual disability syndrome with characteristic faciesJillian Casey, Allan Jenkinson, Alex Magee, et al.
Developmental Medicine and Child Neurology|February 28, 2012
The clinical spectrum of the m.10191T>C mutation in complex I-deficient Leigh syndromeVictoria Nesbitt, Patrick J Morrison, Ellen Crushell, et al.
JIMD Reports|July 13, 2022
Glutaric aciduria type 1: Diagnosis, clinical features and long-term outcome in a large cohort of 34 Irish patientsLydia Healy, Meabh O'Shea, Jennifer McNulty, et al.
Journal of Clinical Medicine|March 10, 2022
Secondary Hyperparathyroidism in Children with Mucolipidosis Type II (I-Cell Disease): Irish ExperienceRitma Boruah, Ahmad Ardeshir Monavari, Tracey Conlon, et al.
Molecular Genetics and Metabolism|July 13, 2012
Evaluation of N-nonyl-deoxygalactonojirimycin as a pharmacological chaperone for human GM1 gangliosidosis leads to identification of a feline model suitable for testing enzyme enhancement therapyBrigitte A Rigat, Michael B Tropak, Justin Buttner, et al.
European Journal of Human Genetics : EJHG|October 16, 2003
Phenotypic and molecular characterisation of the Aarskog-Scott syndrome: a survey of the clinical variability in light of FGD1 mutation analysis in 46 patientsAlfredo Orrico, Lucia Galli, Maria Luigia Cavaliere, et al.
Journal of Nutrition and Metabolism|December 23, 2017
Growth Patterns in the Irish Pyridoxine Nonresponsive Homocystinuria Population and the Influence of Metabolic Control and Protein IntakeOrla Purcell, Aoife Coughlan, Tim Grant, et al.
Pageof 7

Showing results (21-30 of 66) with videos related to

Sort By:
Pageof 7
JIMD Reports|June 27, 2019
Ten-year retrospective review (2003-2013) of 56 inpatient admissions to stabilize elevated phenylalanine levelsAnne Clark, Christine Merrigan, Ellen Crushell, et al.
JIMD Reports|July 30, 2015
Friedreich Ataxia in Classical GalactosaemiaSiobhán Neville, Siobhan O'Sullivan, Bronagh Sweeney, et al.
Therapeutic Advances in Rare Disease|May 14, 2023
IMPACT study: measuring the impact of caregiving on families and healthcare professionals of children and adults living with mucopolysaccharidoses in IrelandSuja Somanadhan, Hannah Bristow, Ellen Crushell, et al.
Clinical Dysmorphology|June 14, 2016
Beaulieu-Boycott-Innes syndrome: an intellectual disability syndrome with characteristic faciesJillian Casey, Allan Jenkinson, Alex Magee, et al.
Developmental Medicine and Child Neurology|February 28, 2012
The clinical spectrum of the m.10191T>C mutation in complex I-deficient Leigh syndromeVictoria Nesbitt, Patrick J Morrison, Ellen Crushell, et al.
JIMD Reports|July 13, 2022
Glutaric aciduria type 1: Diagnosis, clinical features and long-term outcome in a large cohort of 34 Irish patientsLydia Healy, Meabh O'Shea, Jennifer McNulty, et al.
Journal of Clinical Medicine|March 10, 2022
Secondary Hyperparathyroidism in Children with Mucolipidosis Type II (I-Cell Disease): Irish ExperienceRitma Boruah, Ahmad Ardeshir Monavari, Tracey Conlon, et al.
Molecular Genetics and Metabolism|July 13, 2012
Evaluation of N-nonyl-deoxygalactonojirimycin as a pharmacological chaperone for human GM1 gangliosidosis leads to identification of a feline model suitable for testing enzyme enhancement therapyBrigitte A Rigat, Michael B Tropak, Justin Buttner, et al.
European Journal of Human Genetics : EJHG|October 16, 2003
Phenotypic and molecular characterisation of the Aarskog-Scott syndrome: a survey of the clinical variability in light of FGD1 mutation analysis in 46 patientsAlfredo Orrico, Lucia Galli, Maria Luigia Cavaliere, et al.
Journal of Nutrition and Metabolism|December 23, 2017
Growth Patterns in the Irish Pyridoxine Nonresponsive Homocystinuria Population and the Influence of Metabolic Control and Protein IntakeOrla Purcell, Aoife Coughlan, Tim Grant, et al.
Pageof 7