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/vufind/Search/Results?lookfor=%22Tinker%2C+Rory+J%22&type=Person&sort=year
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PubPharm (38)
1
Data from electronic healthcare records expand our understanding of X-linked genetic diseases
enthalten in:
American journal of medical genetics. Part A
| 2024
von
Tinker, R.
|
Bastarache, L.
|
Ezell, K.
| +4
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2
Diagnostic delay in monogenic disease : A scoping review
enthalten in:
Genetics in medicine : official journal of the American College of Medical Genetics
| 2024
von
Tinker, R.
|
Fisher, M.
|
Gimeno, A.
| +4
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3
Clustered de novo start-loss variants in GLUL result in a developmental and epileptic encephalopathy via stabilization of glutamine synthetase
enthalten in:
American journal of human genetics
| 2024
von
Jones, A.
|
Aquilino, M.
|
Tinker, R.
| +25
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4
Undiagnosed Disease Network collaborative approach in diagnosing rare disease in a patient with a mosaic CACNA1D variant
enthalten in:
American journal of medical genetics. Part A
| 2024
von
Ezell, K.
|
Tinker, R.
|
Furuta, Y.
| +110
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5
Probable digenic inheritance of Diamond-Blackfan anemia
enthalten in:
American journal of medical genetics. Part A
| 2024
von
Furuta, Y.
|
Tinker, R.
|
Gulsevin, A.
| +9
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6
Probable digenic inheritance of Diamond–Blackfan anemia
enthalten in:
American Journal of Medical Genetics Part C: Seminars in Medical Genetics
| 2024
von
Furuta, Y.
|
Tinker, R.
|
Gulsevin, A.
| +8
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7
Data from electronic healthcare records expand our understanding of X‐linked genetic diseases
enthalten in:
American Journal of Medical Genetics Part C: Seminars in Medical Genetics
| 2024
von
Tinker, R.
|
Bastarache, L.
|
Ezell, K.
| +4
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8
A medical odyssey of a 72-year-old man with Charcot-Marie-Tooth disease type 2 newly diagnosed with biallelic variants in SORD gene causing sorbitol dehydrogenase deficiency
enthalten in:
American journal of medical genetics. Part A
| 2023
von
Furuta, Y.
|
Nelson, E.
|
Neumann, S.
| +7
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9
Next-generation phenotyping : introducing phecodeX for enhanced discovery research in medical phenomics
enthalten in:
Bioinformatics (Oxford, England)
| 2023
von
Shuey, M.
|
Stead, W.
|
Aka, I.
| +24
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10
The contribution of mosaicism to genetic diseases and de novo pathogenic variants
enthalten in:
American journal of medical genetics. Part A
| 2023
von
Tinker, R.
|
Bastarache, L.
|
Ezell, K.
| +12
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American journal of medical genetics. Part A
4
Acta neurologica Belgica
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Erscheinungszeitraum
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2020-
4
2010-2019
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