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PubPharm (71)
1
Recessive pathogenic variants in
MCAT
cause combined oxidative phosphorylation deficiency
enthalten in:
bioRxiv.org
| 2024
von
Webb, B.
|
Nowinski, S.
|
Solmonson, A.
| +10
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2
A Case of DNAJC12-Deficient Hyperphenylalaninemia Detected on Newborn Screening : Clinical Outcomes from Early Detection
enthalten in:
International journal of neonatal screening
| 2024
von
Donnelly, C.
|
Estrella, L.
|
Ginevic, I.
| +1
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3
ScreenPlus : A comprehensive, multi-disorder newborn screening program
enthalten in:
Molecular genetics and metabolism reports
| 2024
von
Kelly, N.
|
Orsini, J.
|
Goldenberg, A.
| +16
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4
PPA2 Deficiency in 2 Sisters : A Rare Cause of Sudden Cardiac Death
enthalten in:
JACC. Case reports
| 2023
von
Genthe, W.
|
Donnelly, C.
|
Ezon, D.
| +4
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5
Recessive pathogenic variants in MCAT cause combined oxidative phosphorylation deficiency
enthalten in:
eLife
| 2023
von
Webb, B.
|
Nowinski, S.
|
Solmonson, A.
| +10
Wird geladen...
6
Phenotypic continuum of NFU1-related disorders
enthalten in:
Annals of clinical and translational neurology
| 2022
von
Kaiyrzhanov, R.
|
Zaki, M.
|
Lau, T.
| +43
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7
Time to harmonize mitochondrial syndrome nomenclature and classification : A consensus from the North American Mitochondrial Disease Consortium (NAMDC)
enthalten in:
Molecular genetics and metabolism
| 2022
von
Emmanuele, V.
|
Ganesh, J.
|
Vladutiu, G.
| +14
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8
Phenotypic continuum of NFU1‐related disorders
enthalten in:
Annals of Clinical and Translational Neurology
| 2022
von
Kaiyrzhanov, R.
|
Zaki, M.
|
Lau, T.
| +43
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9
Mitochondrial diseases in North America : An analysis of the NAMDC Registry
enthalten in:
Neurology. Genetics
| 2020
von
Barca, E.
|
Long, Y.
|
Cooley, V.
| +32
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10
The N370S/R496H genotype in type 1 Gaucher disease - Natural history and implications for pre symptomatic diagnosis and counseling
enthalten in:
Molecular genetics and metabolism reports
| 2020
von
Zeid, N.
|
Stauffer, C.
|
Yang, A.
| +4
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Molecular genetics and metabolism
4
Archives of neurology
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Pediatric radiology
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American journal of medical genetics. Part A
3
Human mutation
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American Journal of Medical Genetics Part C: Se...
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36
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17
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14
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12
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6
Mitochondrial disease
4
DNA, Mitochondrial
4
Gaucher disease
4
Mitochondrial DNA
3
Child
3
Heteroplasmy
3
Mitochondrial Proteins
3
Mitochondrial tRNA
3
Partial splenic embolization
3
Polyvinyl alcohol particles
3
Splenomegaly
3
genetics
2
CdLS
2
Cell Cycle Proteins
2
Chromosomal Proteins, Non-Histone
2
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2020-
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