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journalStr:"Neurogenetics"
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PubPharm (10)
1
A novel homozygous variant in RNF170 causes hereditary spastic paraplegia : a case report and review of the literature
enthalten in:
Neurogenetics
| 2022
von
Chouery, E.
|
Mehawej, C.
|
Megarbane, A.
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2
A novel homozygous variant in RNF170 causes hereditary spastic paraplegia: a case report and review of the literature
enthalten in:
Neurogenetics
| 2022
von
Chouery, E.
|
Mehawej, C.
|
Megarbane, A.
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3
A novel homozygous variant in RNF170 causes hereditary spastic paraplegia: a case report and review of the literature
enthalten in:
Neurogenetics
| 2022
von
Chouery, E.
|
Mehawej, C.
|
Megarbane, A.
Wird geladen...
4
A whole-genome scan in a large family with leukodystrophy and oligodontia reveals linkage to 10q22
enthalten in:
Neurogenetics
| 2011
von
Chouery, E.
|
Delague, V.
|
Jalkh, N.
| +8
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5
A whole-genome scan in a large family with leukodystrophy and oligodontia reveals linkage to 10q22
enthalten in:
Neurogenetics
| 2010
von
Chouery, E.
|
Delague, V.
|
Jalkh, N.
| +8
Wird geladen...
6
A whole-genome scan in a large family with leukodystrophy and oligodontia reveals linkage to 10q22
enthalten in:
Neurogenetics
| 2010
von
Chouery, E.
|
Delague, V.
|
Jalkh, N.
| +8
Wird geladen...
7
A whole-genome scan in a large family with leukodystrophy and oligodontia reveals linkage to 10q22
enthalten in:
Neurogenetics
| 2010
von
Chouery, E.
|
Delague, V.
|
Jalkh, N.
| +8
Wird geladen...
8
A new autosomal recessive non-progressive congenital cerebellar ataxia associated with mental retardation, optic atrophy, and skin abnormalities (CAMOS) maps to chromosome 15q24-q26 in a large consanguineous Lebanese Druze Family
enthalten in:
Neurogenetics
| 2002
von
Delague, V.
|
Bareil, C.
|
Bouvagnet, P.
| +5
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9
A new autosomal recessive non-progressive congenital cerebellar ataxia associated with mental retardation, optic atrophy, and skin abnormalities (CAMOS) maps to chromosome 15q24-q26 in a large consanguineous Lebanese Druze family
enthalten in:
Neurogenetics
| 2002
von
Delague, V.
|
Bareil, C.
|
Bouvagnet, P.
| +5
Wird geladen...
10
A new autosomal recessive non-progressive congenital cerebellar ataxia associated with mental retardation, optic atrophy, and skin abnormalities (CAMOS) maps to chromosome 15q24-q26 in a large consanguineous Lebanese Druze family
enthalten in:
Neurogenetics
| 2002
von
Delague, V.
|
Bareil, C.
|
Bouvagnet, P.
| +5
Wird geladen...
1
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Zeitschrift: Neurogenetics
Medienart
10
Aufsätze
7
E-Artikel
7
E-Ressourcen
3
Gedruckte Aufsätze
Zeitschriftentitel
Neurogenetics
Thema
3
Clinical heterogeneity
3
Consanguinity
3
Hereditary spastic paraplegia
3
Journal Article
3
Leukodystrophy
3
Linkage analysis
3
Microsatellite markers
3
Oligodontia
3
SNP markers
3
Whole exome sequencing
2
Case Reports
2
Research Support, Non-U.S. Gov't
1
EC 2.3.2.27
1
RNF170
1
RNF170 protein, human
1
Review
1
Ubiquitin-Protein Ligases
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