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PubPharm (87)
1
Systematic analysis and prediction of genes associated with disorders on chromosome X
enthalten in:
bioRxiv.org
| 2024
von
Leitão, E.
|
Schröder, C.
|
Parenti, I.
| +34
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2
Molecular consequences of
PQBP1
deficiency, involved in the X-linked Renpenning syndrome
enthalten in:
bioRxiv.org
| 2024
von
Courraud, J.
|
Engel, C.
|
Quartier, A.
| +14
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3
Rare Missense Variants in KCNJ10 Are Associated with Paroxysmal Kinesigenic Dyskinesia
enthalten in:
Movement disorders : official journal of the Movement Disorder Society
| 2024
von
Wirth, T.
|
Roze, E.
|
Delvallée, C.
| +17
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4
Assessment of parental mosaicism rates in neurodevelopmental disorders caused by apparent de novo pathogenic variants using deep sequencing
enthalten in:
Scientific reports
| 2024
von
Lecoquierre, F.
|
Cassinari, K.
|
Drouot, N.
| +9
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5
Molecular consequences of PQBP1 deficiency, involved in the X-linked Renpenning syndrome
enthalten in:
Molecular psychiatry
| 2023
von
Courraud, J.
|
Engel, C.
|
Quartier, A.
| +17
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6
High diagnostic potential of short and long read genome sequencing with transcriptome analysis in exome-negative developmental disorders
enthalten in:
Human genetics
| 2023
von
Lecoquierre, F.
|
Quenez, O.
|
Fourneaux, S.
| +15
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7
High diagnostic potential of short and long read genome sequencing with transcriptome analysis in exome-negative developmental disorders
enthalten in:
Human genetics
| 2023
von
Lecoquierre, F.
|
Quenez, O.
|
Fourneaux, S.
| +15
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8
Deep intronic NIPBL de novo mutations and differential diagnoses revealed by whole genome and RNA sequencing in Cornelia de Lange syndrome patients
enthalten in:
Human mutation
| 2022
von
Coursimault, J.
|
Cassinari, K.
|
Lecoquierre, F.
| +22
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9
Integrative approach to interpret DYRK1A variants, leading to a frequent neurodevelopmental disorder
enthalten in:
bioRxiv.org
| 2022
von
Courraud, J.
|
Chater-Diehl, E.
|
Durand, B.
| +64
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10
Systematic analysis and prediction of genes associated with monogenic disorders on human chromosome X
enthalten in:
Nature communications
| 2022
von
Leitão, E.
|
Schröder, C.
|
Parenti, I.
| +34
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Journal of neurology
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American journal of human genetics
8
Human mutation
5
European journal of human genetics : EJHG
4
Acta neuropathologica
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Human molecular genetics
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Movement disorders : official journal of the Mo...
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Acta neuropathologica communications
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American journal of medical genetics. Part A
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Research Support, Non-U.S. Gov't
10
Case Reports
8
Recessive ataxia
5
Next generation sequencing
5
Recessive
5
X-linked hydrocephalus
4
Ataxia
4
Dominant
4
Electromyography
4
NGS
4
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PEX10
4
Peroxisomal biogenesis disorders
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4
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4
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3
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