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Rebekah Jobling

Showing results (1-10 of 29) with videos related to

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ERJ Open Research|May 2, 2019
Prolidase deficiency diagnosed by whole exome sequencing in a child with pulmonary capillaritisJonathan H Rayment, Rebekah Jobling, Sarah Bowdin, et al.
American Journal of Medical Genetics. Part A|August 8, 2022
EEF1A2 pathogenic variant presenting in an infant with failure to thrive and frequent apneas requiring respiratory supportLindsey M Vogt, Melissa Lorenzo, D'Arcy B Prendergast, et al.
JIMD Reports|February 20, 2020
Phenotypes and genotypes of mitochondrial aminoacyl-tRNA synthetase deficiencies from a single neurometabolic clinicAaisha Al Balushi, Diana Matviychuk, Rebekah Jobling, et al.
Prenatal Diagnosis|May 3, 2025
KIDINS220 Variant Associated With Hypoplasia of the Corpus Callosum and Aqueduct StenosisKimia Ghannad-Zadeh, Patrick Shannon, Rebekah Jobling, et al.
Molecular Genetics and Metabolism Reports|January 9, 2019
Severe cystic degeneration and intractable seizures in a newborn with molybdenum cofactor deficiency type BFady Hannah-Shmouni, Lauren MacNeil, Murray Potter, et al.
American Journal of Medical Genetics. Part A|May 11, 2019
Alveolar capillary dysplasia with misalignment of the pulmonary veins and hypoplastic left heart sequence caused by an in frame deletion within FOXF1Danielle K Bourque, Inara Chacon Fonseca, Andrea Staines, et al.
Current Rheumatology Reports|December 17, 2013
The collagenopathies: review of clinical phenotypes and molecular correlationsRebekah Jobling, Rohan D'Souza, Naomi Baker, et al.
The Canadian Journal of Cardiology|December 18, 2025
Canadian Cardiovascular Society Clinical Practice Update on Cardiogenetic TestingMelanie Care, Laura Arbour, Liam R Brunham, et al.
Neurology|February 21, 2014
Peroxisomal D-bifunctional protein deficiency: three adults diagnosed by whole-exome sequencingMatthew A Lines, Rebekah Jobling, Lauren Brady, et al.
Human Genetics|January 11, 2023
Finding the sweet spot: a qualitative study exploring patients' acceptability of chatbots in genetic service deliveryStephanie Luca, Marc Clausen, Angela Shaw, et al.
Pageof 3

Showing results (1-10 of 29) with videos related to

Sort By:
Pageof 3
ERJ Open Research|May 2, 2019
Prolidase deficiency diagnosed by whole exome sequencing in a child with pulmonary capillaritisJonathan H Rayment, Rebekah Jobling, Sarah Bowdin, et al.
American Journal of Medical Genetics. Part A|August 8, 2022
EEF1A2 pathogenic variant presenting in an infant with failure to thrive and frequent apneas requiring respiratory supportLindsey M Vogt, Melissa Lorenzo, D'Arcy B Prendergast, et al.
JIMD Reports|February 20, 2020
Phenotypes and genotypes of mitochondrial aminoacyl-tRNA synthetase deficiencies from a single neurometabolic clinicAaisha Al Balushi, Diana Matviychuk, Rebekah Jobling, et al.
Prenatal Diagnosis|May 3, 2025
KIDINS220 Variant Associated With Hypoplasia of the Corpus Callosum and Aqueduct StenosisKimia Ghannad-Zadeh, Patrick Shannon, Rebekah Jobling, et al.
Molecular Genetics and Metabolism Reports|January 9, 2019
Severe cystic degeneration and intractable seizures in a newborn with molybdenum cofactor deficiency type BFady Hannah-Shmouni, Lauren MacNeil, Murray Potter, et al.
American Journal of Medical Genetics. Part A|May 11, 2019
Alveolar capillary dysplasia with misalignment of the pulmonary veins and hypoplastic left heart sequence caused by an in frame deletion within FOXF1Danielle K Bourque, Inara Chacon Fonseca, Andrea Staines, et al.
Current Rheumatology Reports|December 17, 2013
The collagenopathies: review of clinical phenotypes and molecular correlationsRebekah Jobling, Rohan D'Souza, Naomi Baker, et al.
The Canadian Journal of Cardiology|December 18, 2025
Canadian Cardiovascular Society Clinical Practice Update on Cardiogenetic TestingMelanie Care, Laura Arbour, Liam R Brunham, et al.
Neurology|February 21, 2014
Peroxisomal D-bifunctional protein deficiency: three adults diagnosed by whole-exome sequencingMatthew A Lines, Rebekah Jobling, Lauren Brady, et al.
Human Genetics|January 11, 2023
Finding the sweet spot: a qualitative study exploring patients' acceptability of chatbots in genetic service deliveryStephanie Luca, Marc Clausen, Angela Shaw, et al.
Pageof 3