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1

O26: Analysis of patient-reported outcomes and a functional..:

Spears, Kathryn ; Rossignol, Francis ; Perry, Monique...
Genetics in Medicine Open. 2 (2024) - p. 100874 , 2024

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

2

P143: Clinical investigation of bleeding diatheses in patie..:

Song, Christopher ; Introne, Wendy ; O'Brien, Kevin...
Genetics in Medicine Open. 2 (2024) - p. 101040 , 2024

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

3

Efficacy of T cell assays for the diagnosis of primary defe..:

Chiang, Samuel C.C ; Covill, Laura E ; Tesi, Bianca...
Blood Journal. , 2024

Link: https://doi.org/10.1182/..

4

Alkaptonuria:

Bernardini, Giulia ; Braconi, Daniela ; Zatkova, Andrea...
Nature Reviews Disease Primers. 10 (2024) 1 - p. , 2024

Link: https://doi.org/10.1038/..

5

Role of lysosomal trafficking regulator in autophagic lysos..:

Sharma, Prashant ; Serra-Vinardell, Jenny ; Introne, Wendy J..
Neural Regeneration Research. 19 (2023) 5 - p. 957-958 , 2023

Link: https://doi.org/10.4103/..

6

Investigating Determinants and Evaluating Deep Learning Tra..:

Malechka, Volha V. ; Duong, Dat ; Bordonada, Keyla D....
Ophthalmology Science. 3 (2023) 1 - p. 100225 , 2023

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

7

AORTIC VALVULAR DISEASE IN ADULTS WITH ALKAPTONURIA:

Jerves, Teodoro ; Rossignol, Francis ; Chen, Marcus..
Molecular Genetics and Metabolism. 138 (2023) 3 - p. 107431 , 2023

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

8

ACCELERATION OF ALKAPTONURIC SPONDYLOARTHROPATHY IN A PATIE..:

Jang, Jessica ; Introne, Wendy ; Rossignol, Francis.
Molecular Genetics and Metabolism. 138 (2023) 3 - p. 107430 , 2023

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

9

LYST deficiency impairs autophagic lysosome reformation in ..:

Serra-Vinardell, Jenny ; Sandler, Maxwell B. ; De Pace, Raffaella...
Cellular and Molecular Life Sciences. 80 (2023) 2 - p. , 2023

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

10

cDNA sequencing increases the molecular diagnostic yield in..:

Kuptanon, Chulaluk ; Morimoto, Marie ; Nicoli, Elena-Raluca...
Frontiers in Genetics. 14 (2023) - p. , 2023

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

11

Correction: LYST deficiency impairs autophagic lysosome ref..:

Serra-Vinardell, Jenny ; Sandler, Maxwell B. ; De Pace, Raffaella...
Cellular and Molecular Life Sciences. 80 (2023) 3 - p. , 2023

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

12

Role of lysosomal trafficking regulator in autophagic lysos..:

Sharma, Prashant ; Serra-Vinardell, Jenny ; Introne, Wendy J.
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10749611/. , 2023

Link: http://www.ncbi.nlm.nih...

13

Bi-allelic ATG4D variants are associated with a neurodevelo..:

Marie Morimoto ; Vikas Bhambhani ; Nour Gazzaz...
https://doi.org/10.1038/s41525-022-00343-8. , 2023

Link: https://doi.org/10.1038/..

14

A diagnosis of Birt–Hogg–Dubé syndrome in individuals with ..:

Vocke, Cathy D ; Fleming, Leah R ; Piskorski, Anna M...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10117402/. , 2023

Link: http://www.ncbi.nlm.nih...

15

cDNA sequencing increases the molecular diagnostic yield in..:

Chulaluk Kuptanon ; Marie Morimoto ; Elena-Raluca Nicoli...
https://www.frontiersin.org/articles/10.3389/fgene.2023.1072784/full. , 2023

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

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