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topic_facet:"Research Support, Non-U.S. Gov't"
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PubPharm (11)
1
Variants in DOK7 results in fetal akinesia deformation sequence : A case report and review of literature
enthalten in:
Clinical genetics
| 2024
von
Tiwari, A.
|
Srinivasan, V.
|
Phadke, S.
| +1
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2
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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3
Pure cerebellar ataxia due to bi-allelic PRDX3 variants including recurring p.Asp202Asn
enthalten in:
Annals of clinical and translational neurology
| 2023
von
Efthymiou, S.
|
Novis, L.
|
Koutsis, G.
| +13
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4
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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5
Snijders Blok-Campeau Syndrome : Description of 20 Additional Individuals with Variants in CHD3 and Literature Review
enthalten in:
Genes
| 2023
von
Pascual, P.
|
Tenorio-Castano, J.
|
Mignot, C.
| +34
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6
CERT1 mutations perturb human development by disrupting sphingolipid homeostasis
enthalten in:
The Journal of clinical investigation
| 2023
von
Gehin, C.
|
Lone, M.
|
Lee, W.
| +82
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7
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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8
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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9
A novel biallelic frameshift variant in C2orf69 causing developmental regression, seizures, microcephaly, autistic features, and hypertonia
enthalten in:
American journal of medical genetics. Part A
| 2023
von
Werren, E.
|
Srinivasan, V.
|
Gowda, V.
| +5
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10
Biallelic ADAM22 pathogenic variants cause progressive encephalopathy and infantile-onset refractory epilepsy
enthalten in:
Brain : a journal of neurology
| 2022
von
van der Knoop, M.
|
Maroofian, R.
|
Fukata, Y.
| +45
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Thema: Research Support, Non-U.S. Gov't
Medienart
11
Aufsätze
11
E-Artikel
11
E-Ressourcen
Zeitschriftentitel
4
Genetics in medicine : official journal of the ...
1
American journal of medical genetics. Part A
1
Annals of clinical and translational neurology
1
Brain : a journal of neurology
1
Clinical genetics
1
Genes
1
Human mutation
1
The Journal of clinical investigation
Alle anzeigen ...
weniger ...
Thema
Research Support, Non-U.S. Gov't
10
Journal Article
2
Case Reports
2
Research Support, N.I.H., Extramural
2
Review
2
neurodevelopmental disorders
1
12634-43-4
1
9014-25-9
1
ADAM Proteins
1
ADAM22
1
ADAM22 protein, human
1
ALDH3A2
1
Aldehyde Oxidoreductases
1
Amines
1
Brain monoamine vesicular transport disease
1
C2orf69
1
CERT1 protein, human
1
CHD3
1
CHD3 protein, human
1
COXPD53
Alle anzeigen ...
weniger ...
Erscheinungszeitraum
1
2024
8
2023
1
2022
1
2021
Erscheinungsjahr(e)
Von:
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Sprache
11
Englisch
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