Results
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Biallelic mutations in GPD1 gene in a Chinese boy mainly presented with obesity, insulin resistance, fatty liver, and short stature. [electronic resource] by
- Li, Niu
- Chang, Guoying
- Xu, Yufei
- Ding, Yu
- Li, Guoqiang
- Yu, Tingting
- Yao, Ruen
- Li, Juan
- Shen, Yiping
- Wang, Xiumin
- Wang, Jian
Producer: 20180321
In:
American journal of medical genetics. Part A vol. 173
Availability: No items available.
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7.
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Clinical and Molecular Characterization of Patients with Fructose 1,6-Bisphosphatase Deficiency. [electronic resource] by
- Li, Niu
- Chang, Guoying
- Xu, Yufei
- Ding, Yu
- Li, Guoqiang
- Yu, Tingting
- Qing, Yanrong
- Li, Juan
- Shen, Yiping
- Wang, Jian
- Wang, Xiumin
Producer: 20170629
In:
International journal of molecular sciences vol. 18
Availability: No items available.
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8.
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Molecular and phenotypic spectrum of Noonan syndrome in Chinese patients. [electronic resource] by
- Li, Xin
- Yao, Ruen
- Tan, Xin
- Li, Niu
- Ding, Yu
- Li, Juan
- Chang, Guoying
- Chen, Yao
- Ma, Lizhuang
- Wang, Jian
- Fu, Lijun
- Wang, Xiumin
Producer: 20200903
In:
Clinical genetics vol. 96
Availability: No items available.
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9.
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Increased transactivation and impaired repression of β-catenin-mediated transcription associated with a novel SOX3 missense mutation in an X-linked hypopituitarism pedigree with modest growth failure. [electronic resource] by
- Yu, Tingting
- Chang, Guoying
- Cheng, Qing
- Yao, Ruen
- Li, Juan
- Xu, Yufei
- Li, Guoqiang
- Ding, Yu
- Qing, Yanrong
- Li, Niu
- Shen, Yiping
- Wang, Xiumin
- Wang, Jian
Producer: 20190506
In:
Molecular and cellular endocrinology vol. 478
Availability: No items available.
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Description of the molecular and phenotypic spectrum of Wiedemann-Steiner syndrome in Chinese patients. [electronic resource] by
- Li, Niu
- Wang, Yirou
- Yang, Yu
- Wang, Pengpeng
- Huang, Hui
- Xiong, Shiyi
- Sun, Luming
- Cheng, Min
- Song, Cui
- Cheng, Xinran
- Ding, Yu
- Chang, Guoying
- Chen, Yao
- Xu, Yufei
- Yu, Tingting
- Yao, Ru-En
- Shen, Yiping
- Wang, Xiumin
- Wang, Jian
Producer: 20190416
In:
Orphanet journal of rare diseases vol. 13
Availability: No items available.
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