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Trials
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December 10, 2021
Correction to: Establishing a core outcome set for mucopolysaccharidoses (MPS) in children: study protocol for a rapid literature review, candidate outcomes survey, and Delphi surveys
Alison H Howie, Kylie Tingley, Michal Inbar-Feigenberg, et al.
Journal of Inherited Metabolic Disease
|
February 26, 2021
New insights into carnitine-acylcarnitine translocase deficiency from 23 cases: Management challenges and potential therapeutic approaches
Bryony Ryder, Michal Inbar-Feigenberg, Emma Glamuzina, et al.
Orphanet Journal of Rare Diseases
|
October 24, 2024
Review of clinical trials and guidelines for children and youth with mucopolysaccharidosis: outcome selection and measurement
Alison H Howie, Kylie Tingley, Michal Inbar-Feigenberg, et al.
American Journal of Human Genetics
|
May 6, 2017
CHARGE and Kabuki Syndromes: Gene-Specific DNA Methylation Signatures Identify Epigenetic Mechanisms Linking These Clinically Overlapping Conditions
Darci T Butcher, Cheryl Cytrynbaum, Andrei L Turinsky, et al.
The Patient
|
July 20, 2021
Family Experiences with Care for Children with Inherited Metabolic Diseases in Canada: A Cross-Sectional Survey
Andrea J Chow, Michael Pugliese, Laure A Tessier, et al.
JIMD Reports
|
September 3, 2025
Metabolic Control and Frequency of Clinical Monitoring Among Canadian Children With Phenylalanine Hydroxylase Deficiency: A Retrospective Cohort Study
Nataliya Yuskiv, Ammar Saad, Beth K Potter, et al.
Human Molecular Genetics
|
November 9, 2023
Clinical features, functional consequences, and rescue pharmacology of missense GRID1 and GRID2 human variants
James P Allen, Kathryn B Garber, Riley Perszyk, et al.
Orphanet Journal of Rare Diseases
|
June 11, 2026
The impacts of caring for children with inherited metabolic diseases for families: a cross-sectional study
Andrea J Chow, Isabel Jordan, Nicole Pallone, et al.
Genome Medicine
|
July 2, 2025
Clinical applications of and molecular insights from RNA sequencing in a rare disease cohort
Jamie C Stark, Neta Pipko, Yijing Liang, et al.
Health Expectations : an International Journal of Public Participation in Health Care and Health Policy
|
August 5, 2024
Family-centred care interventions for children with chronic conditions: A scoping review
Andrea J Chow, Ammar Saad, Zobaida Al-Baldawi, et al.
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of 5
Search research articles
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Showing results (31-40 of 47) with videos related to
Sort By:
Page
of 5
Trials
|
December 10, 2021
Correction to: Establishing a core outcome set for mucopolysaccharidoses (MPS) in children: study protocol for a rapid literature review, candidate outcomes survey, and Delphi surveys
Alison H Howie, Kylie Tingley, Michal Inbar-Feigenberg, et al.
Journal of Inherited Metabolic Disease
|
February 26, 2021
New insights into carnitine-acylcarnitine translocase deficiency from 23 cases: Management challenges and potential therapeutic approaches
Bryony Ryder, Michal Inbar-Feigenberg, Emma Glamuzina, et al.
Orphanet Journal of Rare Diseases
|
October 24, 2024
Review of clinical trials and guidelines for children and youth with mucopolysaccharidosis: outcome selection and measurement
Alison H Howie, Kylie Tingley, Michal Inbar-Feigenberg, et al.
American Journal of Human Genetics
|
May 6, 2017
CHARGE and Kabuki Syndromes: Gene-Specific DNA Methylation Signatures Identify Epigenetic Mechanisms Linking These Clinically Overlapping Conditions
Darci T Butcher, Cheryl Cytrynbaum, Andrei L Turinsky, et al.
The Patient
|
July 20, 2021
Family Experiences with Care for Children with Inherited Metabolic Diseases in Canada: A Cross-Sectional Survey
Andrea J Chow, Michael Pugliese, Laure A Tessier, et al.
JIMD Reports
|
September 3, 2025
Metabolic Control and Frequency of Clinical Monitoring Among Canadian Children With Phenylalanine Hydroxylase Deficiency: A Retrospective Cohort Study
Nataliya Yuskiv, Ammar Saad, Beth K Potter, et al.
Human Molecular Genetics
|
November 9, 2023
Clinical features, functional consequences, and rescue pharmacology of missense GRID1 and GRID2 human variants
James P Allen, Kathryn B Garber, Riley Perszyk, et al.
Orphanet Journal of Rare Diseases
|
June 11, 2026
The impacts of caring for children with inherited metabolic diseases for families: a cross-sectional study
Andrea J Chow, Isabel Jordan, Nicole Pallone, et al.
Genome Medicine
|
July 2, 2025
Clinical applications of and molecular insights from RNA sequencing in a rare disease cohort
Jamie C Stark, Neta Pipko, Yijing Liang, et al.
Health Expectations : an International Journal of Public Participation in Health Care and Health Policy
|
August 5, 2024
Family-centred care interventions for children with chronic conditions: A scoping review
Andrea J Chow, Ammar Saad, Zobaida Al-Baldawi, et al.
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of 5