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Introne, Wendy J.
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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/..
 
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2

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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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/..
 
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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/..
 
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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/..
 
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6

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/..
 
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7

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/..
 
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8

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/..
 
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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/..
 
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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/..
 
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11

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/..
 
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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/..
 
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14

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/..
 
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15

Diagnosis of Chediak Higashi disease in a 67‐year old woman:

Yarnell, David S. ; Roney, Joseph C. ; Teixeira, Cláudia...
American Journal of Medical Genetics Part A.  182 (2020)  12 - p. 3007-3013 , 2020
Link: https://doi.org/10.1002/..
 
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