Search research articles
Contact Us
Filters
Showing results (11-20 of 154) with videos related to
Page
of 16
Sort By:
Allergy, Asthma, and Clinical Immunology : Official Journal of the Canadian Society of Allergy and Clinical Immunology
|
November 3, 2021
Neonatal abstinence syndrome is a potential cause of low TREC copy number
Adil Adatia, Ling Ling, Pranesh Chakraborty, et al.
American Journal of Medical Genetics. Part A
|
September 1, 2023
The mitochondrial tRNA MT-TW m.5537_5538insT variant presents with significant intra-familial clinical variability
Lauren Strasser, Asif Doja, Jorge Davila, et al.
Journal of Developmental and Behavioral Pediatrics : JDBP
|
April 21, 2023
Newborn Screening Conditions: Early Intervention and Probability of Developmental Delay
Elizabeth Reynolds, Sheresa Blanchard, Elizabeth Jalazo, et al.
Healthcare Quarterly (Toronto, Ont.)
|
April 25, 2022
Patient Engagement in a Multi-Stakeholder Workshop to Plan the Collection of Patient-Oriented Outcomes for Children with Inherited Metabolic Diseases
Kylie Tingley, Maureen Smith, Nicole Pallone, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
April 10, 2015
Translating rare-disease therapies into improved care for patients and families: what are the right outcomes, designs, and engagement approaches in health-systems research?
Beth K Potter, Sara D Khangura, Kylie Tingley, et al.
Canadian Liver Journal
|
March 20, 2024
Decoding hepatorenal tyrosinemia type 1: Unraveling the impact of early detection, NTBC, and the role of liver transplantation
Mohit Kehar, Moinak Sen Sarma, Jayendra Seetharaman, et al.
Canadian Journal of Anaesthesia = Journal Canadien D'Anesthesie
|
October 30, 2012
Effectiveness of preoperative screening for sickle cell disease in a population with a newborn screening program: a cohort study
James D O'Leary, Isaac Odame, Carolyne Pehora, et al.
Clinics in Perinatology
|
May 5, 2024
Estimating Gestational Age and Prediction of Preterm Birth Using Metabolomics Biomarkers
Victoria C Ward, Steven Hawken, Pranesh Chakraborty, et al.
Orphanet Journal of Rare Diseases
|
January 13, 2021
Stakeholder perspectives on clinical research related to therapies for rare diseases: therapeutic misconception and the value of research
Kylie Tingley, Doug Coyle, Ian D Graham, et al.
American Journal of Medical Genetics
|
November 20, 2002
An active ring X and haploinsufficiency of SHOX contribute to short stature, congenital anomalies, and developmental delay in a female
Mary Shago, Michael Sgro, Tony Barozzino, et al.
Page
of 16
Search research articles
Search
Showing results (11-20 of 154) with videos related to
Sort By:
Page
of 16
Allergy, Asthma, and Clinical Immunology : Official Journal of the Canadian Society of Allergy and Clinical Immunology
|
November 3, 2021
Neonatal abstinence syndrome is a potential cause of low TREC copy number
Adil Adatia, Ling Ling, Pranesh Chakraborty, et al.
American Journal of Medical Genetics. Part A
|
September 1, 2023
The mitochondrial tRNA MT-TW m.5537_5538insT variant presents with significant intra-familial clinical variability
Lauren Strasser, Asif Doja, Jorge Davila, et al.
Journal of Developmental and Behavioral Pediatrics : JDBP
|
April 21, 2023
Newborn Screening Conditions: Early Intervention and Probability of Developmental Delay
Elizabeth Reynolds, Sheresa Blanchard, Elizabeth Jalazo, et al.
Healthcare Quarterly (Toronto, Ont.)
|
April 25, 2022
Patient Engagement in a Multi-Stakeholder Workshop to Plan the Collection of Patient-Oriented Outcomes for Children with Inherited Metabolic Diseases
Kylie Tingley, Maureen Smith, Nicole Pallone, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
April 10, 2015
Translating rare-disease therapies into improved care for patients and families: what are the right outcomes, designs, and engagement approaches in health-systems research?
Beth K Potter, Sara D Khangura, Kylie Tingley, et al.
Canadian Liver Journal
|
March 20, 2024
Decoding hepatorenal tyrosinemia type 1: Unraveling the impact of early detection, NTBC, and the role of liver transplantation
Mohit Kehar, Moinak Sen Sarma, Jayendra Seetharaman, et al.
Canadian Journal of Anaesthesia = Journal Canadien D'Anesthesie
|
October 30, 2012
Effectiveness of preoperative screening for sickle cell disease in a population with a newborn screening program: a cohort study
James D O'Leary, Isaac Odame, Carolyne Pehora, et al.
Clinics in Perinatology
|
May 5, 2024
Estimating Gestational Age and Prediction of Preterm Birth Using Metabolomics Biomarkers
Victoria C Ward, Steven Hawken, Pranesh Chakraborty, et al.
Orphanet Journal of Rare Diseases
|
January 13, 2021
Stakeholder perspectives on clinical research related to therapies for rare diseases: therapeutic misconception and the value of research
Kylie Tingley, Doug Coyle, Ian D Graham, et al.
American Journal of Medical Genetics
|
November 20, 2002
An active ring X and haploinsufficiency of SHOX contribute to short stature, congenital anomalies, and developmental delay in a female
Mary Shago, Michael Sgro, Tony Barozzino, et al.
Page
of 16