نتائج البحث - "Qiu, Wenjuan"

المساهمون: Shanghai Healthcare Commission Project, Clinical Research Centre for Congenital Adrenal Insufficiency, School of Paediatrics, Shanghai Jiao Tong University School of Medicine

المصدر: Orphanet Journal of Rare Diseases ; volume 18, issue 1 ; ISSN 1750-1172

مصطلحات موضوعية: Pharmacology (medical), Genetics (clinical), General Medicine

الإتاحة: https://doi.org/10.1186/s13023-023-02737-yTest

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5

دورية أكاديمية

Clinical, biochemical, and genetic analysis of 28 Chinese patients with holocarboxylase synthetase deficiency

المؤلفون: Ling, Shiying, Qiu, Wenjuan, Zhang, Huiwen, Liang, Lili, Lu, Deyun, Chen, Ting, Zhan, Xia, Wang, Yu, Gu, Xuefan, Han, Lianshu

المساهمون: the Scientific research Project Plan of Shanghai Municipal Health Commission, the National Key Research and Development Program of China

المصدر: Orphanet Journal of Rare Diseases ; volume 18, issue 1 ; ISSN 1750-1172

مصطلحات موضوعية: Pharmacology (medical), Genetics (clinical), General Medicine

الإتاحة: https://doi.org/10.1186/s13023-023-02656-yTest

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6

دورية أكاديمية

Genome-wide epigenetic signatures facilitated the variant classification of the PURA gene and uncovered the pathomechanism of PURA-related neurodevelopmental disorders.

المؤلفون: Xiao, Bing, Dai, Weiqian, Zhan, Yongkun, Qiu, Wenjuan, Zhang, Huiwen, Liu, DanPing, Xu, Na, Yu, Yongguo

المصدر: Genet Med ; ISSN:1530-0366 ; Volume:26 ; Issue:8

مصطلحات موضوعية: DNA methylation, Epigenetic signature, Neurodevelopmental disorder, PURA gene, Variants of uncertain significance

العلاقة: https://doi.org/10.1016/j.gim.2024.101167Test; https://pubmed.ncbi.nlm.nih.gov/38770750Test

الإتاحة: https://doi.org/10.1016/j.gim.2024.101167Test
https://pubmed.ncbi.nlm.nih.gov/38770750Test

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7

دورية أكاديمية

Fetal genetically determined birth weight plays a causal role in earlier puberty timing:evidence from human genetic studies

المؤلفون: Peng, Qinghui, Qiu, Wenjuan, Li, Zengjun, Zhao, Jian, Zhu, Cairong

المصدر: Peng , Q , Qiu , W , Li , Z , Zhao , J & Zhu , C 2024 , ' Fetal genetically determined birth weight plays a causal role in earlier puberty timing : evidence from human genetic studies ' , Human Reproduction , vol. 39 , no. 4 , pp. 792-800 . https://doi.org/10.1093/humrep/deae019Test

مصطلحات موضوعية: Pregnancy, Female, Humans, Birth Weight/genetics, Genome-Wide Association Study, Puberty/genetics, Prenatal Care, Human Genetics

العلاقة: https://research-information.bris.ac.uk/en/publications/7e45cebf-46ea-4f5a-9882-3f784618cf3fTest

الإتاحة: https://doi.org/10.1093/humrep/deae019Test
https://hdl.handle.net/1983/7e45cebf-46ea-4f5a-9882-3f784618cf3fTest
https://research-information.bris.ac.uk/en/publications/7e45cebf-46ea-4f5a-9882-3f784618cf3fTest

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