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Epidemiological, Virulence, and Antibiotic Resistance Analysis of Klebsiella pneumoniae , a Major Source of Threat to Livestock and Poultry in Some Regions of Xinjiang, China.
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- Animals (2076-2615), 2024, v. 14, n. 10, p. 1433, doi. 10.3390/ani14101433
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- Article
Phenotype of Takayasu-like vasculitis and cardiopathy in patients with Blau syndrome.
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- Clinical Rheumatology, 2024, v. 43, n. 3, p. 1171, doi. 10.1007/s10067-024-06876-w
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- Article
Phenotypic and genetic characteristics of 130 patients with mucopolysaccharidosis type II: A single-center retrospective study in China.
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- Frontiers in Genetics, 2023, v. 14, p. 01, doi. 10.3389/fgene.2023.1103620
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- Article
Clinical features of gout in adult patients with type Ia glycogen storage disease: a single-centre retrospective study and a review of literature.
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- Arthritis Research & Therapy, 2022, v. 24, n. 1, p. 1, doi. 10.1186/s13075-021-02706-5
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- Article
A novel MAGED2 variant in a Chinese preterm newborn with transient antenatal Bartter's syndrome with 4 years follow-up.
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- 2021
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- journal article
Separation in genetic pathogenesis of mutations in FBN1‐TB5 region between autosomal dominant acromelic dysplasia and Marfan syndrome.
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- Birth Defects Research, 2020, v. 112, n. 20, p. 1834, doi. 10.1002/bdr2.1814
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- Article
Farber disease in a patient from China.
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- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 9, p. 2184, doi. 10.1002/ajmg.a.61752
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- Article
Exonic rearrangements in DMD in Chinese Han individuals affected with Duchenne and Becker muscular dystrophies.
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- Human Mutation, 2020, v. 41, n. 3, p. 668, doi. 10.1002/humu.23953
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- Article
Characteristics of Pompe disease in China: a report from the Pompe registry.
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- 2019
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- journal article
Rare Loss-of-Function Variants in Predispose to Human Obesity.
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- 2017
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- journal article
Mutation Analysis of 16 Mucolipidosis II and III Alpha/Beta Chinese Children Revealed Genotype-Phenotype Correlations.
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- PLoS ONE, 2016, v. 11, n. 9, p. 1, doi. 10.1371/journal.pone.0163204
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- Article
Kabuki syndrome: a Chinese case series and systematic review of the spectrum of mutations.
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- BMC Medical Genetics, 2015, v. 16, n. 1, p. 1, doi. 10.1186/s12881-015-0171-4
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- Article