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PubPharm (57)
1
De novo variants in KCNJ3 are associated with early-onset epilepsy
enthalten in:
Journal of medical genetics
| 2024
von
Li, J.
|
Mei, S.
|
Mao, X.
| +7
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2
Periostin/Bone Morphogenetic Protein 1 axis axis regulates proliferation and osteogenic differentiation of sutured mesenchymal stem cells and affects coronal suture closure in the TWIST1+/- mouse model of craniosynostosis
enthalten in:
Journal of orthopaedic surgery and research
| 2024
von
Feng, S.
|
Feng, Q.
|
Dong, L.
| +3
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3
Genetic and clinical analysis of a child with Shwachman-Diamond syndrome due to compound heterozygous variants of SBDS gene
enthalten in:
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics
| 2024
von
Li, S.
|
Yu, Z.
|
Zhou, F.
| +4
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4
Clinical characteristics and genetic analysis of two children with Tuberous sclerosis complex
enthalten in:
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics
| 2023
von
Li, L.
|
Luo, S.
|
Zhang, Y.
| +5
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5
Clinical and genetic analysis of two patients with primary ciliary dyskinesia caused by a novel variant of DNAAF2
enthalten in:
BMC pediatrics
| 2023
von
Dong, L.
|
Zhang, L.
|
Li, X.
| +6
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6
Molecular typing of Mycoplasma pneumoniae and its correlation with macrolide resistance in children in Henan of China
enthalten in:
Indian journal of medical microbiology
| 2023
von
Guo, P.
|
Mei, S.
|
Wang, Y.
| +3
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7
Influence of COVID-19 pandemic on the epidemiology of Mycoplasma pneumoniae infections among hospitalized children in Henan, China
enthalten in:
Heliyon
| 2023
von
Ma, J.
|
Guo, P.
|
Mei, S.
| +6
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8
Analysis of CLCN4 gene variant in a child with Raynaud-Claes syndrome
enthalten in:
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics
| 2023
von
Li, L.
|
Luo, S.
|
Mei, S.
| +6
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9
Analysis of clinical phenotypes and MMACHC gene variants in 65 children with Methylmalonic acidemia and homocysteinemia
enthalten in:
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics
| 2023
von
Chen, C.
|
Zhang, Y.
|
Ge, L.
| +4
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10
Impact of COVID-19 on the Epidemiological Features of Mycoplasma pneumoniae Infection in Children with Community-Acquired Pneumonia in Henan, China
enthalten in:
Microbiology spectrum
| 2023
von
Li, L.
|
Guo, P.
|
Ma, J.
| +2
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Thema
45
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16
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6
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MicroRNAs
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Combined methylmalonic aciduria and homocystinuria
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3
Whole-exome sequencing
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cblC
2
3' Untranslated Regions
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DNA-Binding Proteins
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Erscheinungszeitraum
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2020-
28
2010-2019
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