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PubPharm (63)
1
Lost in translation: the pitfalls of Ensembl Gene annotations between human genome assemblies and their impact on diagnostics
enthalten in:
bioRxiv.org
| 2024
von
Abdallah, M.
|
Koko, M.
|
Ramesar, R.
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2
Contribution of autosomal rare and
de novo
variants to sex differences in autism
enthalten in:
bioRxiv.org
| 2024
von
Koko, M.
|
Satterstrom, F.
|
Warrier, V.
| +1
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3
Bi-allelic PRRT2 variants may predispose to Self-limited Familial Infantile Epilepsy
enthalten in:
European journal of human genetics : EJHG
| 2024
von
Koko, M.
|
Elseed, M.
|
Mohammed, I.
| +24
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4
Clinical and electrophysiological features of SCN8A variants causing episodic or chronic ataxia
enthalten in:
EBioMedicine
| 2023
von
Lyu, H.
|
Boßelmann, C.
|
Johannesen, K.
| +20
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5
Machado-Joseph disease in a Sudanese family links East Africa to Portuguese families and allows reestimation of ancestral age of the Machado lineage
enthalten in:
Human genetics
| 2023
von
Martins, S.
|
Yahia, A.
|
Costa, I.
| +13
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6
Machado-Joseph disease in a Sudanese family links East Africa to Portuguese families and allows reestimation of ancestral age of the Machado lineage
enthalten in:
ResearchSquare.com
| 2023
von
Martins, S.
|
Yahia, A.
|
Costa, I.
| +13
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7
Machado-Joseph disease in a Sudanese family links East Africa to Portuguese families and allows reestimation of ancestral age of the Machado lineage
enthalten in:
Human genetics
| 2023
von
Martins, S.
|
Yahia, A.
|
Costa, I.
| +13
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8
Clinical phenotyping and genetic diagnosis of a large cohort of Sudanese families with hereditary spinocerebellar degeneration
enthalten in:
ResearchSquare.com
| 2023
von
Stevanin, G.
|
Hamed, A.
|
Mohamed, I.
| +41
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9
Lost in translation : the pitfalls of Ensembl gene annotations between human genome assemblies and their impact on diagnostics
enthalten in:
Expert review of molecular diagnostics
| 2023
von
Abdallah, M.
|
Koko, M.
|
Ramesar, R.
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10
Mutations in plasticity-related-gene-1 (PRG-1) protein contribute to hippocampal seizure susceptibility and modify epileptic phenotype
enthalten in:
Cerebral cortex (New York, N.Y. : 1991)
| 2023
von
Knierim, E.
|
Vogt, J.
|
Kintscher, M.
| +15
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bioRxiv.org
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Acta myologica : myopathies and cardiomyopathie...
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1
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1
Cerebral cortex (New York, N.Y. : 1991)
1
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27
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13
Research Support, Non-U.S. Gov't
7
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6
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6
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6
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5
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4
NAV1.6 Voltage-Gated Sodium Channel
4
SCN8A protein, human
3
Africa
3
Clinico-radiological dissociation
3
Human exome
3
Hydrocephalus
3
Infantile neuroaxonal dystrophy
3
Intra-familial phenotypic heterogeneity
3
Joubert syndrome
3
LBSL
3
Lissencephaly
3
Minor reference alleles
3
Next generation sequencing
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Erscheinungszeitraum
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2020-
25
2010-2019
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