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/vufind/Search/Results?lookfor=%22Shu%2C+Jianbo%22&type=Person&sort=year
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PubPharm (102)
1
Identification of a novel intronic variant of ATP6V0A2 in a Han-Chinese family with cutis laxa
enthalten in:
Molecular biology reports
| 2024
von
Zhang, Y.
|
Sun, M.
|
Li, N.
| +5
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2
Identification of a novel intronic variant of ATP6V0A2 in a Han-Chinese family with cutis laxa
enthalten in:
Molecular biology reports
| 2024
von
Zhang, Y.
|
Sun, M.
|
Li, N.
| +5
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3
Phosphoserine aminotransferase deficiency diagnosed by whole-exome sequencing and LC-MS/MS reanalysis : A case report and review of literature
enthalten in:
Molecular genetics & genomic medicine
| 2024
von
Li, J.
|
Wei, X.
|
Sun, Y.
| +6
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4
A novel MMUT splicing variant causing mild methylmalonic acidemia phenotype
enthalten in:
Heliyon
| 2024
von
Zhang, X.
|
Xu, X.
|
Shu, J.
| +7
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5
Whole exome sequencing approach for identification of the molecular etiology in pediatric patients with hematuria
enthalten in:
Clinica chimica acta; international journal of clinical chemistry
| 2024
von
Wu, J.
|
Cui, Y.
|
Liu, T.
| +7
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6
Novel Variants of CEP152 in a Case of Compound-Heterozygous Inheritance of Epilepsy
enthalten in:
Global medical genetics
| 2024
von
Li, W.
|
Lu, X.
|
Shu, J.
| +3
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7
Identification of Two Variants c.2697A > C and c.3305A > C in USP7 by Analysis of Whole-Exome Sequencing in Chinese Patients with Hao-Fountain Syndrome
enthalten in:
Global medical genetics
| 2024
von
Sun, M.
|
Li, Q.
|
Zhang, Y.
| +5
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8
A Pair of Compound Heterozygous IARS2 Variants Manifesting West Syndrome and Electrolyte Disorders in a Chinese Patient
enthalten in:
Global medical genetics
| 2024
von
Zhou, F.
|
Yi, G.
|
Liu, X.
| +4
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9
Case Report : A developmental and epileptic encephalopathy 45 due to de novo variant of GABRB1
enthalten in:
Frontiers in pediatrics
| 2024
von
Wang, L.
|
Xu, H.
|
Shu, J.
| +3
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10
Genetic Association of Lipids and Lipid-Lowering Drug Target Genes With Attention Deficit Hyperactivity Disorder
enthalten in:
Journal of attention disorders
| 2024
von
Guo, D.
|
Sheng, W.
|
Cai, Y.
| +2
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gene
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2020-
16
2010-2019
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