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PubPharm (74)
1
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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2
A supervised learning method for classifying methylation disorders
enthalten in:
BMC bioinformatics
| 2024
von
Walsh, J.
|
Sun, G.
|
Balan, J.
| +10
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3
A supervised learning method for classifying methylation disorders
enthalten in:
BMC bioinformatics
| 2024
von
Walsh, J.
|
Sun, G.
|
Balan, J.
| +10
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4
Predicting Prognosis in CPEO With mtDNA Deletions : A Case Demonstrating the Advantages of Measuring Heteroplasmy With Novel Droplet Digital Polymerase Chain Reaction Testing
enthalten in:
Journal of neuro-ophthalmology : the official journal of the North American Neuro-Ophthalmology Society
| 2023
von
Lambert-Cheatham, N.
|
Tessema, S.
|
Subei, O.
| +7
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5
Confirmation of Insertion, Deletion, and Deletion-Insertion Variants Detected by Next-Generation Sequencing
enthalten in:
Clinical chemistry
| 2023
von
Choate, L.
|
Koleilat, A.
|
Harris, K.
| +11
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6
Uniparental disomy of multiple chromosomes in two cases with a complex phenotype
enthalten in:
American journal of medical genetics. Part A
| 2023
von
Polonis, K.
|
Lopes, J.
|
Cabral, H.
| +7
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7
εγ-Thalassemia, a New Hemoglobinopathy Category
enthalten in:
Clinical chemistry
| 2023
von
Oliveira, J.
|
Thompson, C.
|
Saravanaperumal, S.
| +12
CommentIn: Clin Chem. 2023 Jun 05;:. - PMID 37279577
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8
Loss-of-function variants in
CUL3
cause a syndromic neurodevelopmental disorder
enthalten in:
bioRxiv.org
| 2023
von
Blackburn, P.
|
Ebstein, F.
|
Hsieh, T.
| +72
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9
Loss-of-function variants in CUL3 cause a syndromic neurodevelopmental disorder
enthalten in:
medRxiv : the preprint server for health sciences
| 2023
von
Blackburn, P.
|
Ebstein, F.
|
Hsieh, T.
| +72
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10
Rapid and Direct Detection of Congenital Cytomegalovirus Using a Commercial Real-Time PCR Assay
enthalten in:
Journal of clinical microbiology
| 2023
von
Fernholz, E.
|
Vidal-Folch, N.
|
Hasadsri, L.
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American journal of medical genetics. Part A
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3
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Flow cytometry
3
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3
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3
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3
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2
Angelman syndrome
2
Beckwith–Wiedemann syndrome
2
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2
Prader–Willi syndrome
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