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PubPharm (304)
1
Recurrent ATP1A1 variant Gly903Arg causes developmental delay, intellectual disability, and autism
enthalten in:
Annals of clinical and translational neurology
| 2024
von
Dohrn, M.
|
Bademci, G.
|
Rebelo, A.
| +110
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2
Recurring homozygous ACTN2 variant (p.Arg506Gly) causes a recessive myopathy
enthalten in:
Annals of clinical and translational neurology
| 2024
von
Donkervoort, S.
|
Mohassel, P.
|
O'Leary, M.
| +121
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3
Optimized nutrition in mitochondrial disease correlates to improved muscle fatigue, strength, and quality of life
enthalten in:
ResearchSquare.com
| 2024
von
DiVito, D.
|
Wellik, A.
|
Burfield, J.
| +18
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4
De novo variants in DENND5B cause a neurodevelopmental disorder
enthalten in:
American journal of human genetics
| 2024
von
Scala, M.
|
Tomati, V.
|
Ferla, M.
| +134
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5
Exome and genome sequencing in a heterogeneous population of patients with rare disease : Identifying predictors of a diagnosis
enthalten in:
Genetics in medicine : official journal of the American College of Medical Genetics
| 2024
von
Pucel, J.
|
Briere, L.
|
Reuter, C.
| +103
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6
Novel Development of Magnetic Resonance Imaging to Quantify the Structural Anatomic Growth of Diverse Organs in Adult and Mutant Zebrafish
enthalten in:
Zebrafish
| 2024
von
Sharma, S.
|
Magnitsky, S.
|
Reesey, E.
| +9
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7
Bridging the clinical-research gap : Harnessing an electronic data capture, integration, and visualization platform to systematically assess prospective patient-reported outcomes in mitochondrial medicine
enthalten in:
Molecular genetics and metabolism
| 2024
von
MacMullen, L.
|
George-Sankoh, I.
|
Stanley, K.
| +5
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8
EFEMP1 haploinsufficiency causes a Marfan-like hereditary connective tissue disorder
enthalten in:
American journal of medical genetics. Part A
| 2024
von
Forghani, I.
|
Lang, S.
|
Rodier, M.
| +106
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9
COMPOSITIONS AND METHODS FOR THE MODULATION OF MITOPHAGY FOR USE IN TREATMENT OF MITOCHONDRIAL DISEASE
enthalten in:
Europäisches Patentamt
| 2024
von
FALK MARNI
|
HAROON SURAIYA
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10
COMPOSITIONS AND METHODS FOR THE MODULATION OF MITOPHAGY FOR USE IN TREATMENT OF MITOCHONDRIAL DISEASE
enthalten in:
Europäisches Patentamt
| 2024
von
FALK MARNI
|
HAROON SURAIYA
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Journal of inherited metabolic disease
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Europäisches Patentamt
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American journal of human genetics
11
Human mutation
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American journal of medical genetics. Part A
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che
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EC 7.1.1.2
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Caenorhabditis elegans Proteins
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Electron Transport Complex I
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