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Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
September 3, 2010
Carrier testing for spinal muscular atrophy
Jonathan M Gitlin, Kenneth Fischbeck, Thomas O Crawford, et al.
Trials
|
December 21, 2017
Establishing core outcome sets for phenylketonuria (PKU) and medium-chain Acyl-CoA dehydrogenase (MCAD) deficiency in children: study protocol for systematic reviews and Delphi surveys
Beth K Potter, Brian Hutton, Tammy J Clifford, et al.
The Canadian Journal of Neurological Sciences. Le Journal Canadien Des Sciences Neurologiques
|
August 24, 2013
The CNDR: collaborating to translate new therapies for Canadians
Lawrence Korngut, Craig Campbell, Megan Johnston, 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.
The Canadian Journal of Neurological Sciences. Le Journal Canadien Des Sciences Neurologiques
|
June 5, 2020
A National Spinal Muscular Atrophy Registry for Real-World Evidence
Victoria L Hodgkinson, Maryam Oskoui, Joshua Lounsberry, et al.
Epilepsia
|
December 23, 2023
Developmental epileptic encephalopathy in DLG4-related synaptopathy
Benedetta Kassabian, Amanda M Levy, Elena Gardella, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
February 18, 2021
DLG4-related synaptopathy: a new rare brain disorder
Agustí Rodríguez-Palmero, Melissa Maria Boerrigter, David Gómez-Andrés, et al.
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of 5
Search research articles
Search
Showing results (41-50 of 48) with videos related to
Sort By:
Page
of 5
You have reached the last page of results.
This site can display upto 48 results.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
September 3, 2010
Carrier testing for spinal muscular atrophy
Jonathan M Gitlin, Kenneth Fischbeck, Thomas O Crawford, et al.
Trials
|
December 21, 2017
Establishing core outcome sets for phenylketonuria (PKU) and medium-chain Acyl-CoA dehydrogenase (MCAD) deficiency in children: study protocol for systematic reviews and Delphi surveys
Beth K Potter, Brian Hutton, Tammy J Clifford, et al.
The Canadian Journal of Neurological Sciences. Le Journal Canadien Des Sciences Neurologiques
|
August 24, 2013
The CNDR: collaborating to translate new therapies for Canadians
Lawrence Korngut, Craig Campbell, Megan Johnston, 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.
The Canadian Journal of Neurological Sciences. Le Journal Canadien Des Sciences Neurologiques
|
June 5, 2020
A National Spinal Muscular Atrophy Registry for Real-World Evidence
Victoria L Hodgkinson, Maryam Oskoui, Joshua Lounsberry, et al.
Epilepsia
|
December 23, 2023
Developmental epileptic encephalopathy in DLG4-related synaptopathy
Benedetta Kassabian, Amanda M Levy, Elena Gardella, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
February 18, 2021
DLG4-related synaptopathy: a new rare brain disorder
Agustí Rodríguez-Palmero, Melissa Maria Boerrigter, David Gómez-Andrés, et al.
Page
of 5