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/vufind/Search/Results?lookfor=%22Straub%2C+Volker%22&type=Person&sort=year
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PubPharm (583)
1
Exome copy number variant detection, analysis and classification in a large cohort of families with undiagnosed rare genetic disease
enthalten in:
bioRxiv.org
| 2024
von
Lemire, G.
|
Sanchis-Juan, A.
|
Russell, K.
| +61
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2
Functional abilities, respiratory and cardiac function in a large cohort of adults with Duchenne muscular dystrophy treated with glucocorticoids
enthalten in:
European journal of neurology
| 2024
von
Schiava, M.
|
Lofra, R.
|
Bourke, J.
| +20
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3
Exome copy number variant detection, analysis, and classification in a large cohort of families with undiagnosed rare genetic disease
enthalten in:
American journal of human genetics
| 2024
von
Lemire, G.
|
Sanchis-Juan, A.
|
Russell, K.
| +61
UpdateOf: medRxiv. 2023 Oct 05;:. - PMID 37873196
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4
Digenic inheritance involving a muscle-specific protein kinase and the giant titin protein causes a skeletal muscle myopathy
enthalten in:
Nature genetics
| 2024
von
Töpf, A.
|
Cox, D.
|
Zaharieva, I.
| +82
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5
Correction to : Analysis of muscle magnetic resonance imaging of a large cohort of patient with VCP‑mediated disease reveals characteristic features useful for diagnosis
enthalten in:
Journal of neurology
| 2024
von
Esteller, D.
|
Schiava, M.
|
Verdú-Díaz, J.
| +63
ErratumFor: J Neurol. 2023 Dec;270(12):5849-5865. - PMID 37603075
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6
Detecting missed diagnoses of spinal muscular atrophy in genome, exome, and panel sequencing datasets
enthalten in:
medRxiv : the preprint server for health sciences
| 2024
von
Weisburd, B.
|
Sharma, R.
|
Pata, V.
| +23
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7
Detecting missed diagnoses of spinal muscular atrophy in genome, exome, and panel sequencing datasets
enthalten in:
bioRxiv.org
| 2024
von
Weisburd, B.
|
Sharma, R.
|
Pata, V.
| +23
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8
Correction : Mobile element insertions in rare diseases: a comparative benchmark and reanalysis of 60,000 exome samples
enthalten in:
European journal of human genetics : EJHG
| 2024
von
Wijngaard, R.
|
Demidov, G.
|
O'Gorman, L.
| +27
ErratumFor: Eur J Hum Genet. 2024 Feb;32(2):200-208. - PMID 37853102
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9
Mobile element insertions in rare diseases : a comparative benchmark and reanalysis of 60,000 exome samples
enthalten in:
European journal of human genetics : EJHG
| 2024
von
Wijngaard, R.
|
Demidov, G.
|
O'Gorman, L.
| +27
ErratumIn: Eur J Hum Genet. 2023 Nov 16;:. - PMID 37973950
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10
Biallelic variants in SNUPN cause a limb girdle muscular dystrophy with myofibrillar-like features
enthalten in:
Brain : a journal of neurology
| 2024
von
Iruzubieta, P.
|
Damborenea, A.
|
Ioghen, M.
| +29
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