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/vufind/Search/Results?lookfor=%22Han%2C+Shirui%22&type=Person&sort=year
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PubPharm (26)
1
The pathogenic mechanism of syndactyly type V identified in a Hoxd13Q50R knock-in mice
enthalten in:
Bone research
| 2024
von
Wang, H.
|
Chen, X.
|
Meng, X.
| +6
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2
Panoramic variation analysis of a family with neurodevelopmental disorders caused by biallelic loss-of-function variants in TMEM141, DDHD2, and LHFPL5
enthalten in:
Frontiers of medicine
| 2024
von
Sun, L.
|
Yang, X.
|
Khan, A.
| +7
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3
Panoramic variation analysis of a family with neurodevelopmental disorders caused by biallelic loss-of-function variants in TMEM141, DDHD2, and LHFPL5
enthalten in:
Frontiers of medicine
| 2023
von
Sun, L.
|
Yang, X.
|
Khan, A.
| +7
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4
Novel Homozygous <i>TULP1</i> and <i>RPE65</i> Variants Underlies Recessive Retinitis Pigmentosa
enthalten in:
Preprints.org
| 2020
von
Khan, A.
|
Bai, X.
|
Umair, M.
| +4
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5
Phenotypic Characterization of Intellectual Disability Caused by MBOAT7 Mutation in Two Consanguineous Pakistani Families
enthalten in:
Frontiers in pediatrics
| 2020
von
Sun, L.
|
Khan, A.
|
Zhang, H.
| +4
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6
Correction to : Homozygous missense variant in the TTN gene causing autosomal recessive limb-girdle muscular dystrophy type 10
enthalten in:
BMC medical genetics
| 2019
von
Khan, A.
|
Wang, R.
|
Han, S.
| +6
ErratumFor: BMC Med Genet. 2019 Oct 29;20(1):166. - PMID 31664938
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7
Correction to: Homozygous missense variant in the TTN gene causing autosomal recessive limb-girdle muscular dystrophy type 10
enthalten in:
BMC medical genetics
| 2019
von
Khan, A.
|
Wang, R.
|
Han, S.
| +6
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8
Correction to: Homozygous missense variant in the TTN gene causing autosomal recessive limb-girdle muscular dystrophy type 10
enthalten in:
BMC medical genetics
| 2019
von
Khan, A.
|
Wang, R.
|
Han, S.
| +6
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9
Homozygous missense variant in the TTN gene causing autosomal recessive limb-girdle muscular dystrophy type 10
enthalten in:
BMC medical genetics
| 2019
von
Khan, A.
|
Wang, R.
|
Han, S.
| +6
ErratumIn: BMC Med Genet. 2019 Dec 12;20(1):195. - PMID 31830914
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10
Homozygous missense variant in the TTN gene causing autosomal recessive limb-girdle muscular dystrophy type 10
enthalten in:
BMC medical genetics
| 2019
von
Khan, A.
|
Wang, R.
|
Han, S.
| +6
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Comparative biochemistry and physiology. Part A...
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Preprints.org
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Thema
11
Journal Article
4
Research Support, Non-U.S. Gov't
3
Consanguineous family
3
LGMD
3
TTN
3
Whole exome sequencing
3
hearing loss
2
ASPM protein, human
2
Case Reports
2
Nerve Tissue Proteins
2
Next-generation sequencing
2
Nystagmus
2
Pediatric cataract
2
Variant
2
autosomal recessive intellectual disability
2
consanguinity
2
intellectual disability
2
neurodevelopmental disorder
2
pathogenic mutations
2
spastic paraplegia
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21
2010-2019
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