E-LIB Suche - Ergebnisse für: Stockler, Sylvia

1

Morquio B disease: a case report:

Gholamian, Tara ; Chhina, Harpreet ; Stockler, Sylvia.
Frontiers in Pediatrics. 12 (2024) - p. , 2024

Link: https://doi.org/10.3389/..

2

Where there is no genetic counselor: An online decision-aid..:

Birch, Patricia ; Beauchesne, Rhea ; Bansback, Nick...
Genetics in Medicine. , 2024

Link: https://doi.org/10.1016/..

3

Co-developing longitudinal patient registries for phenylket..:

Adams, John ; Angel, Kim ; Mitchell, John J....
Molecular Genetics and Metabolism. 141 (2024) 4 - p. 108203 , 2024

Link: https://doi.org/10.1016/..

4

Generation of a human induced pluripotent stem cell line fr..:

Ozgoren, Oguz K. ; Sequiera, Glen Lester ; Ferrari Bardile, Costanza...
Stem Cell Research. 71 (2023) - p. 103174 , 2023

Link: https://doi.org/10.1016/..

5

Use of dexamethasone in acute rhabdomyolysis in LPIN1 defic..:

Yeganeh, Mehdi ; March, Kaitlin ; Jones, Catherine...
Molecular Genetics and Metabolism Reports. 35 (2023) - p. 100961 , 2023

Link: https://doi.org/10.1016/..

6

Impact of hematopoietic stem cell transplantation in glycog..:

Turki, Abrar ; Stockler, Sylvia ; Sirrs, Sandra...
Molecular Genetics and Metabolism Reports. 34 (2023) - p. 100955 , 2023

Link: https://doi.org/10.1016/..

7

Development of minimally invasive 13C-glucose breath test t..:

Turki, Abrar ; Stockler, Sylvia ; Sirrs, Sandra...
Molecular Genetics and Metabolism Reports. 31 (2022) - p. 100880 , 2022

Link: https://doi.org/10.1016/..

8

Disruptive Behaviors and Intellectual Disability: Creating ..:

Chan, Melvin Chin-Hao ; Campbell, Mackenzie ; Beyzaei, Nadia..
Frontiers in Psychiatry. 13 (2022) - p. , 2022

Link: https://doi.org/10.3389/..

9

Iron deficiency and common neurodevelopmental disorders—A s..:

McWilliams, Scout ; Singh, Ishmeet ; Leung, Wayne...
PLOS ONE. 17 (2022) 9 - p. e0273819 , 2022

Link: https://doi.org/10.1371/..

10

Sleep as an outcome measure in ADHD randomized controlled t..:

McWilliams, Scout ; Zhou, Ted ; Stockler, Sylvia..
Sleep Medicine Reviews. 63 (2022) - p. 101613 , 2022

Link: https://doi.org/10.1016/..

11

Family Experiences with Care for Children with Inherited Me..:

Chow, Andrea J. ; Pugliese, Michael ; Tessier, Laure A....
The Patient - Patient-Centered Outcomes Research. 15 (2021) 2 - p. 171-185 , 2021

Link: https://doi.org/10.1007/..

12

Establishing a core outcome set for mucopolysaccharidoses (..:

Howie, Alison H. ; Tingley, Kylie ; Inbar-Feigenberg, Michal...
Trials. 22 (2021) 1 - p. , 2021

Link: https://doi.org/10.1186/..

13

Secondary biogenic amine deficiencies: genetic etiology, th..:

van Karnebeek, Clara D. ; Blydt-Hansen, Ingrid ; Matthews, Allison M....
neurogenetics. 22 (2021) 4 - p. 251-262 , 2021

Link: https://doi.org/10.1007/..

14

Patient and family engagement in the development of core ou..:

Vanderhout, Shelley M. ; Smith, Maureen ; Pallone, Nicole...
Research Involvement and Engagement. 7 (2021) 1 - p. , 2021

Link: https://doi.org/10.1186/..

15

Assessment of contrast sensitivity in children with Phenylk..:

Shahin, Yousef M ; Chang, En Cheng (Kevin) ; Watson, Marcus...
Journal of Vision. 21 (2021) 9 - p. 2776 , 2021

Link: https://doi.org/10.1167/..