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/vufind/Search/Results?lookfor=%22Charng%2C+Wu-Lin%22&type=Person&sort=year
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PubPharm (57)
1
Exome sequencing of 1190 non-syndromic clubfoot cases reveals HOXD12 as a novel disease gene
enthalten in:
Journal of medical genetics
| 2024
von
Charng, W.
|
Nikolov, M.
|
Shrestha, I.
| +5
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2
Diverse Monogenic Subforms of Human Spermatogenic Failure
enthalten in:
bioRxiv.org
| 2024
von
Nagirnaja, L.
|
Lopes, A.
|
Charng, W.
| +46
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3
Diverse monogenic subforms of human spermatogenic failure
enthalten in:
Nature communications
| 2022
von
Nagirnaja, L.
|
Lopes, A.
|
Charng, W.
| +46
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4
Diagnostic yield of exome sequencing in congenital vertical talus
enthalten in:
European journal of medical genetics
| 2022
von
Tayebi, N.
|
Charng, W.
|
Dickson, P.
| +2
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5
Whole Exome Sequencing in Individuals with Idiopathic Clubfoot Reveals a Recurrent Filamin B (FLNB) Deletion
enthalten in:
Clinical orthopaedics and related research
| 2022
von
Quiggle, A.
|
Charng, W.
|
Antunes, L.
| +5
CommentIn: Clin Orthop Relat Res. 2022 Feb 1;480(2):431-432. - PMID 34704968
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6
Mutation ofCFAP57causes primary ciliary dyskinesia by disrupting the asymmetric targeting of a subset of ciliary inner dynein arms
enthalten in:
bioRxiv.org
| 2021
von
Bustamante-Marin, X.
|
Horani, A.
|
Stoyanova, M.
| +10
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7
TNPO2 variants associate with human developmental delays, neurologic deficits, and dysmorphic features and alter TNPO2 activity in Drosophila
enthalten in:
American journal of human genetics
| 2021
von
Goodman, L.
|
Cope, H.
|
Nil, Z.
| +45
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8
Mutation of CFAP57, a protein required for the asymmetric targeting of a subset of inner dynein arms in Chlamydomonas, causes primary ciliary dyskinesia
enthalten in:
PLoS genetics
| 2020
von
Bustamante-Marin, X.
|
Horani, A.
|
Stoyanova, M.
| +11
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9
Wolff-Parkinson-White syndrome : De novo variants and evidence for mutational burden in genes associated with atrial fibrillation
enthalten in:
American journal of medical genetics. Part A
| 2020
von
Coban-Akdemir, Z.
|
Charng, W.
|
Azamian, M.
| +23
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10
Identification of genetic variants in CFAP221 as a cause of primary ciliary dyskinesia
enthalten in:
Journal of human genetics
| 2020
von
Bustamante-Marin, X.
|
Shapiro, A.
|
Sears, P.
| +6
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Proteins
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