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PubPharm (158)
1
Correction : Implementation of genomic medicine for rare disease in a tertiary healthcare system: Mayo Clinic Program for Rare and Undiagnosed Diseases (PRaUD)
enthalten in:
Journal of translational medicine
| 2024
von
Pinto E Vairo, F.
|
Kemppainen, J.
|
Vitek, C.
| +60
ErratumFor: J Transl Med. 2023 Jun 23;21(1):410. - PMID 37353797
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2
Correction: Implementation of genomic medicine for rare disease in a tertiary healthcare system: Mayo Clinic Program for Rare and Undiagnosed Diseases (PRaUD)
enthalten in:
Journal of translational medicine
| 2024
von
Pinto e Vairo, F.
|
Kemppainen, J.
|
Vitek, C.
| +60
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3
Complex balanced intrachromosomal rearrangement involving PITX2 identified as a cause of Axenfeld-Rieger Syndrome
enthalten in:
American journal of medical genetics. Part A
| 2024
von
Farris, J.
|
Khanna, C.
|
Smadbeck, J.
| +14
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4
Semiautomated approach focused on new genomic information results in time and effort- efficient reannotation of negative exome data
enthalten in:
ResearchSquare.com
| 2024
von
Ferrer, A.
|
Duffy, P.
|
Olson, R.
| +25
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5
Semiautomated approach focused on new genomic information results in time and effort-efficient reannotation of negative exome data
enthalten in:
Human genetics
| 2024
von
Ferrer, A.
|
Duffy, P.
|
Olson, R.
| +25
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6
The Importance of Mitochondrial Disease Testing in Young Adults With New Onset Sensorineural Hearing Loss
enthalten in:
Ear and hearing
| 2024
von
Koleilat, A.
|
Poling, G.
|
Schimmenti, L.
| +1
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7
Complex balanced intrachromosomal rearrangement involving PITX2 identified as a cause of Axenfeld‐Rieger Syndrome
enthalten in:
American Journal of Medical Genetics Part C: Seminars in Medical Genetics
| 2024
von
Farris, J.
|
Khanna, C.
|
Smadbeck, J.
| +14
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8
Implementation of genomic medicine for rare disease in a tertiary healthcare system: Mayo Clinic Program for Rare and Undiagnosed Diseases (PRaUD)
enthalten in:
ResearchSquare.com
| 2023
von
Vairo, F.
|
Kemppainen, J.
|
Vitek, C.
| +60
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9
A Neonate With a Rash
enthalten in:
Pediatrics
| 2023
von
Kazemi-Butterfield, N.
|
Asamoah, E.
|
Little, J.
| +3
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10
Implementation of genomic medicine for rare disease in a tertiary healthcare system : Mayo Clinic Program for Rare and Undiagnosed Diseases (PRaUD)
enthalten in:
Journal of translational medicine
| 2023
von
Pinto E Vairo, F.
|
Kemppainen, J.
|
Vitek, C.
| +60
ErratumIn: J Transl Med. 2024 Apr 30;22(1):400. - PMID 38689323
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Genetics in medicine : official journal of the ...
11
American journal of medical genetics. Part A
7
Human mutation
7
bioRxiv.org
6
Zebrafish
5
American journal of medical genetics
5
Journal of AAPOS : the official publication of ...
5
Journal of the American Association for Pediatr...
5
Journal of translational medicine
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Molecular genetics and metabolism
5
Nature genetics
4
American Journal of Medical Genetics Part C: Se...
4
American journal of human genetics
4
Genetics in medicine
4
Journal of genetic counseling
3
American journal of medical genetics / C
3
European journal of human genetics : EJHG
3
Pediatric cardiology
2
American journal of ophthalmology case reports
2
Current genetic medicine reports
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80
Journal Article
32
Case Reports
29
Research Support, N.I.H., Extramural
28
Research Support, Non-U.S. Gov't
8
PAX2 Transcription Factor
7
Connexin 26
7
Zebrafish Proteins
6
570
6
Biology
6
Hearing loss
6
Review
6
Transcription Factors
5
Genetic counseling
5
Homeodomain Proteins
5
Research Support, U.S. Gov't, P.H.S.
5
zebrafish
4
127120-53-0
4
Connexins
4
GJB2 protein, human
4
Published Erratum
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