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The New England Journal of Medicine
|
March 9, 2012
Enzyme-replacement therapy in life-threatening hypophosphatasia
Michael P Whyte, Cheryl R Greenberg, Nada J Salman, 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.
Science (New York, N.Y.)
|
October 18, 1996
Galileo's First Images of Jupiter and the Galilean Satellites
M J S Belton, J W Head, A P Ingersoll, et al.
Orphanet Journal of Rare Diseases
|
January 16, 2020
Outcomes in pediatric studies of medium-chain acyl-coA dehydrogenase (MCAD) deficiency and phenylketonuria (PKU): a review
Michael Pugliese, Kylie Tingley, Andrea Chow, et al.
Pediatrics
|
July 16, 2021
Core Outcome Sets for Medium-Chain Acyl-CoA Dehydrogenase Deficiency and Phenylketonuria
Michael Pugliese, Kylie Tingley, Andrea Chow, 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.
American Journal of Human Genetics
|
October 1, 1989
The molecular basis for Duchenne versus Becker muscular dystrophy: correlation of severity with type of deletion
M Koenig, A H Beggs, M Moyer, et al.
BMJ Open
|
February 23, 2022
Families' healthcare experiences for children with inherited metabolic diseases: protocol for a mixed methods cohort study
Andrea J Chow, Ryan Iverson, Monica Lamoureux, et al.
American Journal of Human Genetics
|
December 14, 2011
TMEM237 is mutated in individuals with a Joubert syndrome related disorder and expands the role of the TMEM family at the ciliary transition zone
Lijia Huang, Katarzyna Szymanska, Victor L Jensen, 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) deficiency
Ryan Iverson, Monica Taljaard, Michael T Geraghty, et al.
Page
of 85
Search research articles
Search
Showing results (831-840 of 844) with videos related to
Sort By:
Page
of 85
The New England Journal of Medicine
|
March 9, 2012
Enzyme-replacement therapy in life-threatening hypophosphatasia
Michael P Whyte, Cheryl R Greenberg, Nada J Salman, 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.
Science (New York, N.Y.)
|
October 18, 1996
Galileo's First Images of Jupiter and the Galilean Satellites
M J S Belton, J W Head, A P Ingersoll, et al.
Orphanet Journal of Rare Diseases
|
January 16, 2020
Outcomes in pediatric studies of medium-chain acyl-coA dehydrogenase (MCAD) deficiency and phenylketonuria (PKU): a review
Michael Pugliese, Kylie Tingley, Andrea Chow, et al.
Pediatrics
|
July 16, 2021
Core Outcome Sets for Medium-Chain Acyl-CoA Dehydrogenase Deficiency and Phenylketonuria
Michael Pugliese, Kylie Tingley, Andrea Chow, 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.
American Journal of Human Genetics
|
October 1, 1989
The molecular basis for Duchenne versus Becker muscular dystrophy: correlation of severity with type of deletion
M Koenig, A H Beggs, M Moyer, et al.
BMJ Open
|
February 23, 2022
Families' healthcare experiences for children with inherited metabolic diseases: protocol for a mixed methods cohort study
Andrea J Chow, Ryan Iverson, Monica Lamoureux, et al.
American Journal of Human Genetics
|
December 14, 2011
TMEM237 is mutated in individuals with a Joubert syndrome related disorder and expands the role of the TMEM family at the ciliary transition zone
Lijia Huang, Katarzyna Szymanska, Victor L Jensen, 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) deficiency
Ryan Iverson, Monica Taljaard, Michael T Geraghty, et al.
Page
of 85