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Carol Saunders

Showing results (41-50 of 60) with videos related to

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Human Molecular Genetics|October 5, 2018
Instability of the mitochondrial alanyl-tRNA synthetase underlies fatal infantile-onset cardiomyopathyEwen W Sommerville, Xiao-Long Zhou, Monika Oláhová, et al.
Journal of Inherited Metabolic Disease|July 9, 2017
A scoring system predicting the clinical course of CLPB defect based on the foetal and neonatal presentation of 31 patientsEwa Pronicka, Mariola Ropacka-Lesiak, Joanna Trubicka, et al.
Clinical Genetics|June 30, 2025
Expanding the Genetic and Phenotypic Spectrum of POLRMT-Related Mitochondrial DiseaseMahmoud R Fassad, Sebastian Valenzuela, Monika Oláhová, et al.
Human Mutation|September 11, 2014
Mutation update: the spectra of nebulin variants and associated myopathiesVilma-Lotta Lehtokari, Kirsi Kiiski, Sarah A Sandaradura, et al.
Human Mutation|February 11, 2017
Matchmaking facilitates the diagnosis of an autosomal-recessive mitochondrial disease caused by biallelic mutation of the tRNA isopentenyltransferase (TRIT1) geneKristin D Kernohan, David A Dyment, Mihaela Pupavac, et al.
Medrxiv : the Preprint Server for Health Sciences|November 6, 2024
Basic helix-loop-helix transcription factor <i>BHLHE22</i> monoallelic and biallelic variants cause a neurodevelopmental disorder with agenesis of the corpus callosum, intellectual disability, tone and movement abnormalitiesCarolyn Le, Emanuela Argilli, Elizabeth George, et al.
European Journal of Medical Genetics|November 26, 2018
Phenotypic spectrum associated with SPECC1L pathogenic variants: new families and critical review of the nosology of Teebi, Opitz GBBB, and Baraitser-Winter syndromesElizabeth J Bhoj, Damien Haye, Annick Toutain, et al.
JCI Insight|August 1, 2024
An atypical form of 60S ribosomal subunit in Diamond-Blackfan anemia linked to RPL17 variantsFlorence Fellmann, Carol Saunders, Marie-Françoise O'Donohue, et al.
Annals of Neurology|October 11, 2019
Spectrum of K<sub>V</sub> 2.1 Dysfunction in KCNB1-Associated Neurodevelopmental DisordersSeok Kyu Kang, Carlos G Vanoye, Sunita N Misra, et al.
JAMA Neurology|August 15, 2017
Neurodevelopmental Disorders Caused by De Novo Variants in KCNB1 Genotypes and PhenotypesCarolien G F de Kovel, Steffen Syrbe, Eva H Brilstra, et al.
Pageof 6

Showing results (41-50 of 60) with videos related to

Sort By:
Pageof 6
Human Molecular Genetics|October 5, 2018
Instability of the mitochondrial alanyl-tRNA synthetase underlies fatal infantile-onset cardiomyopathyEwen W Sommerville, Xiao-Long Zhou, Monika Oláhová, et al.
Journal of Inherited Metabolic Disease|July 9, 2017
A scoring system predicting the clinical course of CLPB defect based on the foetal and neonatal presentation of 31 patientsEwa Pronicka, Mariola Ropacka-Lesiak, Joanna Trubicka, et al.
Clinical Genetics|June 30, 2025
Expanding the Genetic and Phenotypic Spectrum of POLRMT-Related Mitochondrial DiseaseMahmoud R Fassad, Sebastian Valenzuela, Monika Oláhová, et al.
Human Mutation|September 11, 2014
Mutation update: the spectra of nebulin variants and associated myopathiesVilma-Lotta Lehtokari, Kirsi Kiiski, Sarah A Sandaradura, et al.
Human Mutation|February 11, 2017
Matchmaking facilitates the diagnosis of an autosomal-recessive mitochondrial disease caused by biallelic mutation of the tRNA isopentenyltransferase (TRIT1) geneKristin D Kernohan, David A Dyment, Mihaela Pupavac, et al.
Medrxiv : the Preprint Server for Health Sciences|November 6, 2024
Basic helix-loop-helix transcription factor <i>BHLHE22</i> monoallelic and biallelic variants cause a neurodevelopmental disorder with agenesis of the corpus callosum, intellectual disability, tone and movement abnormalitiesCarolyn Le, Emanuela Argilli, Elizabeth George, et al.
European Journal of Medical Genetics|November 26, 2018
Phenotypic spectrum associated with SPECC1L pathogenic variants: new families and critical review of the nosology of Teebi, Opitz GBBB, and Baraitser-Winter syndromesElizabeth J Bhoj, Damien Haye, Annick Toutain, et al.
JCI Insight|August 1, 2024
An atypical form of 60S ribosomal subunit in Diamond-Blackfan anemia linked to RPL17 variantsFlorence Fellmann, Carol Saunders, Marie-Françoise O'Donohue, et al.
Annals of Neurology|October 11, 2019
Spectrum of K<sub>V</sub> 2.1 Dysfunction in KCNB1-Associated Neurodevelopmental DisordersSeok Kyu Kang, Carlos G Vanoye, Sunita N Misra, et al.
JAMA Neurology|August 15, 2017
Neurodevelopmental Disorders Caused by De Novo Variants in KCNB1 Genotypes and PhenotypesCarolien G F de Kovel, Steffen Syrbe, Eva H Brilstra, et al.
Pageof 6