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Introne, Wendy J.
83
results:
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Online (83)
Mediatypes
Articles (Online) (44)
OpenAccess-fulltext (39)
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1
Alkaptonuria:
Bernardini, Giulia
;
Braconi, Daniela
;
Zatkova, Andrea
...
Nature Reviews Disease Primers. 10 (2024) 1 - p. , 2024
Link:
https://doi.org/10.1038/..
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2
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/..
?
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
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/..
?
5
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/..
?
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
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/..
?
8
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/..
?
9
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/..
?
10
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/..
?
11
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/..
?
12
A diagnosis of Birt–Hogg–Dubé syndrome in individuals with ..:
Vocke, Cathy D.
;
Fleming, Leah R.
;
Piskorski, Anna M.
...
American Journal of Medical Genetics Part A. 191 (2022) 2 - p. 490-497 , 2022
Link:
https://doi.org/10.1002/..
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13
Aortic distensibility in alkaptonuria:
Thimmapuram, Rashmi
;
Bandettini, W. Patricia
;
Shanbhag, Sujata M.
...
Molecular Genetics and Metabolism. 130 (2020) 4 - p. 289-296 , 2020
Link:
https://doi.org/10.1016/..
?
14
Chediak-Higashi syndrome: A review of the past, present, an..:
Sharma, Prashant
;
Nicoli, Elena-Raluca
;
Serra-Vinardell, Jenny
...
Drug Discovery Today: Disease Models. 31 (2020) - p. 31-36 , 2020
Link:
https://doi.org/10.1016/..
?
15
Generation and characterization of four Chediak-Higashi Syn..:
Serra-Vinardell, Jenny
;
Sandler, Maxwell B.
;
Pak, Evgenia
...
Stem Cell Research. 47 (2020) - p. 101883 , 2020
Link:
https://doi.org/10.1016/..
1-15