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Tinker, Rory J.
45  Ergebnisse:
Personensuche X
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1

Clustered de novo start-loss variants in GLUL result in a d..:

Jones, Amy G. ; Aquilino, Matilde ; Tinker, Rory J....
The American Journal of Human Genetics.  111 (2024)  4 - p. 729-741 , 2024
Link: https://doi.org/10.1016/..
 
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2

P818: Data from electronic healthcare records expands our u..:

Tinker, Rory ; Bastarache, Lisa ; Ezell, Kimberly...
Genetics in Medicine Open.  2 (2024)  - p. 101729 , 2024
Link: https://doi.org/10.1016/..
 
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3

Reanalysis of undiagnosed disease reveals formerly recessiv..:

Ezell, Kimberly ; Furuta, Yutaka ; Tinker, Rory...
Molecular Genetics and Metabolism.  141 (2024)  4 - p. 108281 , 2024
Link: https://doi.org/10.1016/..
 
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4

Diagnostic delay in monogenic disease: A scoping review:

Tinker, Rory J. ; Fisher, Miles ; Gimeno, Alex F....
Genetics in Medicine.  26 (2024)  4 - p. 101074 , 2024
Link: https://doi.org/10.1016/..
 
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5

Data from electronic healthcare records expand our understa..:

Tinker, Rory J. ; Bastarache, Lisa ; Ezell, Kimberly...
American Journal of Medical Genetics Part A.  194 (2024)  5 - p. , 2024
Link: https://doi.org/10.1002/..
 
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6

Undiagnosed Disease Network collaborative approach in diagn..:

Ezell, Kimberly M. ; Tinker, Rory J. ; Furuta, Yutaka...
American Journal of Medical Genetics Part A.  194 (2024)  7 - p. , 2024
Link: https://doi.org/10.1002/..
 
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7

A review of multiple diagnostic approaches in the Undiagnos..:

Furuta, Yutaka ; Tinker, Rory ; Hamid, Rizwan...
Molecular Genetics and Metabolism.  141 (2024)  4 - p. 108282 , 2024
Link: https://doi.org/10.1016/..
 
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8

Probable digenic inheritance of Diamond–Blackfan anemia:

Furuta, Yutaka ; Tinker, Rory J ; Gulsevin, Alican...
American Journal of Medical Genetics Part A.  194 (2023)  3 - p. , 2023
Link: https://doi.org/10.1002/..
 
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9

P328: The contribution of mosaicism to genetic diseases and..:

Tinker, Rory ; Bastarache, Lisa ; Ezell, Kimberly...
Genetics in Medicine Open.  1 (2023)  1 - p. 100356 , 2023
Link: https://doi.org/10.1016/..
 
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10

The contribution of mosaicism to genetic diseases and de no..:

Tinker, Rory J. ; Bastarache, Lisa ; Ezell, Kimberly...
American Journal of Medical Genetics Part A.  191 (2023)  10 - p. 2482-2492 , 2023
Link: https://doi.org/10.1002/..
 
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11

O52: Phenotypic convergence in the diagnostic process of Me..:

Tinker, Rory ; Peterson, Josh ; Bastarache, Lisa
Genetics in Medicine Open.  1 (2023)  1 - p. 100705 , 2023
Link: https://doi.org/10.1016/..
 
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12

Next-generation phenotyping: introducing phecodeX for enhan..:

Shuey, Megan M ; Stead, William W ; Aka, Ida...
Bioinformatics.  39 (2023)  11 - p. , 2023
Link: https://doi.org/10.1093/..
 
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13

Phenotypic presentation of Mendelian disease across the dia..:

Tinker, Rory J. ; Peterson, Josh ; Bastarache, Lisa
Genetics in Medicine.  25 (2023)  10 - p. 100921 , 2023
Link: https://doi.org/10.1016/..
 
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14

A medical odyssey of a 72‐year‐old man with Charcot–Marie–T..:

Furuta, Yutaka ; Nelson, Erica T. ; Neumann, Serena M....
American Journal of Medical Genetics Part A.  191 (2023)  12 - p. 2873-2877 , 2023
Link: https://doi.org/10.1002/..
 
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15

Early developmental delay in Leigh syndrome spectrum disord..:

Tinker, Rory J. ; Falk, Marni J. ; Goldstein, Amy...
Molecular Genetics and Metabolism.  135 (2022)  4 - p. 342-349 , 2022
Link: https://doi.org/10.1016/..
 
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