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PubPharm (77)
1
Recessive pathogenic variants in
MCAT
cause combined oxidative phosphorylation deficiency
enthalten in:
bioRxiv.org
| 2024
von
Webb, B.
|
Nowinski, S.
|
Solmonson, A.
| +10
Wird geladen...
2
Inability to move one's face dampens facial expression perception
enthalten in:
Cortex; a journal devoted to the study of the nervous system and behavior
| 2023
von
Japee, S.
|
Jordan, J.
|
Licht, J.
| +10
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3
Real-world genetic screening with molecular ancestry supports comprehensive pan-ethnic carrier screening
enthalten in:
bioRxiv.org
| 2023
von
Shewcraft, R.
|
Higashi, M.
|
Zhang, Y.
| +14
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4
Monozygotic twins discordant for a congenital cranial dysinnervation disorder with features of Moebius syndrome
enthalten in:
American journal of medical genetics. Part A
| 2023
von
Gates, R.
|
Webb, B.
|
Stevenson, D.
| +4
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5
Novel biallelic variants expand the phenotype of NAA20-related syndrome
enthalten in:
Clinical genetics
| 2023
von
D'Onofrio, G.
|
Cuccurullo, C.
|
Larsen, S.
| +18
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6
Noncoding variants alter GATA2 expression in rhombomere 4 motor neurons and cause dominant hereditary congenital facial paresis
enthalten in:
Nature genetics
| 2023
von
Tenney, A.
|
Di Gioia, S.
|
Webb, B.
| +55
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7
A novel deleterious ETFA promoter variant causative of multiple acyl-CoA dehydrogenase deficiency
enthalten in:
American journal of medical genetics. Part A
| 2023
von
Prasun, P.
|
Evans, A.
|
Cork, E.
| +2
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8
Recessive pathogenic variants in MCAT cause combined oxidative phosphorylation deficiency
enthalten in:
eLife
| 2023
von
Webb, B.
|
Nowinski, S.
|
Solmonson, A.
| +10
Wird geladen...
9
An algorithm to identify patients with rare genetic disorders and its real-world data application
enthalten in:
bioRxiv.org
| 2023
von
Webb, B.
|
Lau, L.
|
Tsevdos, D.
| +12
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10
A novel deleterious ETFA promoter variant causative of multiple acyl‐CoA dehydrogenase deficiency
enthalten in:
American Journal of Medical Genetics Part C: Seminars in Medical Genetics
| 2023
von
Prasun, P.
|
Evans, A.
|
Cork, E.
| +2
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mitochondrial translation
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