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journalStr:"Genetics in medicine : official journal of the American College of Medical Genetics"
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PubPharm (4)
1
Clinical, neuroradiological, and molecular characterization of mitochondrial threonyl-tRNA-synthetase (TARS2)-related disorder
enthalten in:
Genetics in medicine : official journal of the American College of Medical Genetics
| 2023
von
Accogli, A.
|
Lin, S.
|
Severino, M.
| +56
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2
Genotype-phenotype correlations in RHOBTB2-associated neurodevelopmental disorders
enthalten in:
Genetics in medicine : official journal of the American College of Medical Genetics
| 2023
von
Langhammer, F.
|
Maroofian, R.
|
Badar, R.
| +61
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3
Expanding SPTAN1 monoallelic variant associated disorders : From epileptic encephalopathy to pure spastic paraplegia and ataxia
enthalten in:
Genetics in medicine : official journal of the American College of Medical Genetics
| 2023
von
Morsy, H.
|
Benkirane, M.
|
Cali, E.
| +122
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4
Brain monoamine vesicular transport disease caused by homozygous SLC18A2 variants : A study in 42 affected individuals
enthalten in:
Genetics in medicine : official journal of the American College of Medical Genetics
| 2023
von
Saida, K.
|
Maroofian, R.
|
Sengoku, T.
| +84
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Zeitschrift: Genetics in medicine : official journal of the American College of Medical Genetics
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4
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4
E-Artikel
4
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Zeitschriftentitel
Genetics in medicine : official journal of the ...
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4
Journal Article
4
Research Support, Non-U.S. Gov't
1
12634-43-4
1
9014-25-9
1
Amines
1
Brain monoamine vesicular transport disease
1
Cerebellar atrophy
1
Developmental and epileptic encephalopathy
1
Developmental delay
1
Developmental epileptic encephalopathy
1
Dopamine agonist
1
Dystonia
1
EC 2.7.11.1
1
EC 3.6.1.-
1
EC 6.-
1
GTP Phosphohydrolases
1
GTP-Binding Proteins
1
Hereditary ataxia
1
Hereditary spastic paraplegia
1
Intellectual disability
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