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Chitra Prasad

Showing results (101-110 of 114) with videos related to

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Brain : a Journal of Neurology|July 24, 2019
Cohesin complex-associated holoprosencephalyPaul Kruszka, Seth I Berger, Valentina Casa, et al.
NEJM Evidence|February 6, 2024
Liver-Directed Adeno-Associated Virus-Mediated Gene Therapy for Mucopolysaccharidosis Type VINicola Brunetti-Pierri, Rita Ferla, Virginia Maria Ginocchio, et al.
BMJ Open|February 23, 2022
Families' healthcare experiences for children with inherited metabolic diseases: protocol for a mixed methods cohort studyAndrea J Chow, Ryan Iverson, Monica Lamoureux, et al.
Brain Communications|February 18, 2025
Biallelic <i>NDUFA13</i> variants lead to a neurodevelopmental phenotype with gradual neurological impairmentRauan Kaiyrzhanov, Kyle Thompson, Stephanie Efthymiou, et al.
American Journal of Human Genetics|January 17, 2025
Discovery of a DNA methylation profile in individuals with Sifrim-Hitz-Weiss syndromeKarim Karimi, Yael Lichtenstein, Jack Reilly, et al.
BMC Pediatrics|January 12, 2024
Assessing the quality and value of metabolic chart data for capturing core outcomes for pediatric medium-chain acyl-CoA dehydrogenase (MCAD) deficiencyRyan Iverson, Monica Taljaard, Michael T Geraghty, et al.
Orphanet Journal of Rare Diseases|April 12, 2020
Evaluation of the quality of clinical data collection for a pan-Canadian cohort of children affected by inherited metabolic diseases: lessons learned from the Canadian Inherited Metabolic Diseases Research NetworkKylie Tingley, Monica Lamoureux, Michael Pugliese, et al.
JCI Insight|September 16, 2016
<i>PIK3CA</i>-associated developmental disorders exhibit distinct classes of mutations with variable expression and tissue distributionGhayda Mirzaa, Andrew E Timms, Valerio Conti, et al.
American Journal of Human Genetics|January 5, 2024
A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3Maimuna S Paul, Sydney L Michener, Hongling Pan, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|October 20, 2023
Clinico-biological refinement of BCL11B-related disorder and identification of an episignature: A series of 20 unreported individualsQuentin Sabbagh, Sadegheh Haghshenas, Juliette Piard, et al.
Pageof 12

Showing results (101-110 of 114) with videos related to

Sort By:
Pageof 12
Brain : a Journal of Neurology|July 24, 2019
Cohesin complex-associated holoprosencephalyPaul Kruszka, Seth I Berger, Valentina Casa, et al.
NEJM Evidence|February 6, 2024
Liver-Directed Adeno-Associated Virus-Mediated Gene Therapy for Mucopolysaccharidosis Type VINicola Brunetti-Pierri, Rita Ferla, Virginia Maria Ginocchio, et al.
BMJ Open|February 23, 2022
Families' healthcare experiences for children with inherited metabolic diseases: protocol for a mixed methods cohort studyAndrea J Chow, Ryan Iverson, Monica Lamoureux, et al.
Brain Communications|February 18, 2025
Biallelic <i>NDUFA13</i> variants lead to a neurodevelopmental phenotype with gradual neurological impairmentRauan Kaiyrzhanov, Kyle Thompson, Stephanie Efthymiou, et al.
American Journal of Human Genetics|January 17, 2025
Discovery of a DNA methylation profile in individuals with Sifrim-Hitz-Weiss syndromeKarim Karimi, Yael Lichtenstein, Jack Reilly, et al.
BMC Pediatrics|January 12, 2024
Assessing the quality and value of metabolic chart data for capturing core outcomes for pediatric medium-chain acyl-CoA dehydrogenase (MCAD) deficiencyRyan Iverson, Monica Taljaard, Michael T Geraghty, et al.
Orphanet Journal of Rare Diseases|April 12, 2020
Evaluation of the quality of clinical data collection for a pan-Canadian cohort of children affected by inherited metabolic diseases: lessons learned from the Canadian Inherited Metabolic Diseases Research NetworkKylie Tingley, Monica Lamoureux, Michael Pugliese, et al.
JCI Insight|September 16, 2016
<i>PIK3CA</i>-associated developmental disorders exhibit distinct classes of mutations with variable expression and tissue distributionGhayda Mirzaa, Andrew E Timms, Valerio Conti, et al.
American Journal of Human Genetics|January 5, 2024
A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3Maimuna S Paul, Sydney L Michener, Hongling Pan, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|October 20, 2023
Clinico-biological refinement of BCL11B-related disorder and identification of an episignature: A series of 20 unreported individualsQuentin Sabbagh, Sadegheh Haghshenas, Juliette Piard, et al.
Pageof 12