E-LIB Suche - Ergebnisse für: Prasad, Chitra

1

Long-term follow-up of an attenuated presentation of NAXE-r..:

Almudhry, Montaha ; Prasad, Chitra ; Rupar, C. Anthony..
Frontiers in Neurology. 15 (2024) - p. , 2024

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

2

Canadian guidance for diagnosis and management of acute hep..:

Francisco Idiaquez, Juan ; Khandelwal, Aditi ; Nassar, Bassam A....
Clinical Biochemistry. , 2024

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

3

P480: Parent and healthcare personnel perspectives on chall..:

Chow, Andrea ; D'Amours, Guylaine ; Jordan, Isabel...
Genetics in Medicine Open. 2 (2024) - p. 101379 , 2024

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

4

Family‐centred care interventions for children with chronic..:

Chow, Andrea J. ; Saad, Ammar ; Al‐Baldawi, Zobaida...
Health Expectations. 27 (2024) 1 - p. , 2024

Link: https://doi.org/10.1111/..

5

Methylmalonic aciduria as a biochemical marker for mitochon..:

Almudhry, Montaha ; Saini, Arushi Gahlot ; Al-Omari, Mohammed A....
Frontiers in Neurology. 14 (2023) - p. , 2023

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

6

Progressive Neurological Decline Associated With Intracrani..:

Almudhry, Montaha ; Prasad, Chitra ; Tay, KengYow..
Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques. , 2023

Link: https://doi.org/10.1017/..

7

A milder form of molybdenum cofactor deficiency type A pres..:

Almudhry, Montaha ; Prasad, Asuri N. ; Rupar, C. Anthony...
Frontiers in Neurology. 14 (2023) - p. , 2023

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

8

Dual diagnosis of trisomy 21 and lethal perinatal Gaucher d..:

Al Harthy, Talib ; Colaiacovo, Samantha ; Gratton, Robert J....
Clinical Case Reports. 11 (2023) 8 - p. , 2023

Link: https://doi.org/10.1002/..

9

Clinical features, functional consequences, and rescue phar..:

Allen, James P ; Garber, Kathryn B ; Perszyk, Riley...
Human Molecular Genetics. 33 (2023) 4 - p. 355-373 , 2023

Link: https://doi.org/10.1093/..

10

Biallelic pathogenic variants in POLR3D alter tRNA transcri..:

Macintosh, Julia ; Perrier, Stefanie ; Pinard, Maxime...
Frontiers in Neurology. 14 (2023) - p. , 2023

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

11

Association Between Lysine Reduction Therapies and Cognitiv..:

Coughlin, Curtis R. ; Tseng, Laura A. ; Bok, Levinus A....
Neurology. 99 (2022) 23 - p. , 2022

Link: https://doi.org/10.1212/..

12

Expanding the phenotypic and molecular spectrum ofNFS1‐rela..:

Yang, Jennifer H. ; Friederich, Marisa W. ; Ellsworth, Katarzyna A....
Human Mutation. 43 (2022) 3 - p. 305-315 , 2022

Link: https://doi.org/10.1002/..

13

Road to a rare diagnosis: Description of novel unbalanced t..:

Musabi, Melab ; Saker, Ayman ; Baer, Jessi...
Clinical Case Reports. 10 (2022) 10 - p. , 2022

Link: https://doi.org/10.1002/..

14

Neonatal hyperinsulinism—broadening the differential diagno..:

Metivier, Emma ; Prasad, Madhavi ; Prasad, Chitra
Paediatrics & Child Health. 28 (2022) 2 - p. 67-68 , 2022

Link: https://doi.org/10.1093/..

15

Families' healthcare experiences for children with inherite..:

Chow, Andrea J ; Iverson, Ryan ; Lamoureux, Monica...
BMJ Open. 12 (2022) 2 - p. e055664 , 2022

Link: https://doi.org/10.1136/..