Search research articles
Contact Us
Filters
Showing results (51-60 of 59) with videos related to
Page
of 6
Sort By:
You have reached the last page of results.
This site can display upto 59 results.
Gene
|
May 19, 2019
In vitro residual activities in 20 variants of phenylalanine hydroxylase and genotype-phenotype correlation in phenylketonuria patients
Xia Zhang, Jun Ye, Nan Shen, et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry
|
March 3, 2018
Mutation spectrum of hyperphenylalaninemia candidate genes and the genotype-phenotype correlation in the Chinese population
Ruifang Wang, Nan Shen, Jun Ye, et al.
Annals of Neurology
|
August 19, 2023
CCNK Gene Deficiency Influences Neural Progenitor Cells Via Wnt5a Signaling in CCNK-Related Syndrome
Weiqian Dai, He Wang, Yongkun Zhan, et al.
Molecular Therapy : the Journal of the American Society of Gene Therapy
|
March 5, 2026
Low-Dose AAV9-SMN1 with CNS-Selective Expression Delivers Efficacy and Favorable Safety in Spinal Muscular Atrophy
Yongguo Yu, Xiji Qin, Mengxia Jing, et al.
BMC Medical Genomics
|
May 26, 2018
Chromosomal microarray analysis in developmental delay and intellectual disability with comorbid conditions
Yanjie Fan, Yanming Wu, Lili Wang, et al.
Cellular Physiology and Biochemistry : International Journal of Experimental Cellular Physiology, Biochemistry, and Pharmacology
|
August 24, 2018
Genetic Evaluation of 114 Chinese Short Stature Children in the Next Generation Era: a Single Center Study
Zhuo Huang, Yu Sun, Yanjie Fan, et al.
American Journal of Human Genetics
|
August 21, 2018
De Novo Mutations of CCNK Cause a Syndromic Neurodevelopmental Disorder with Distinctive Facial Dysmorphism
Yanjie Fan, Wu Yin, Bing Hu, et al.
Cell Reports
|
August 16, 2018
Neuronal-Specific TUBB3 Is Not Required for Normal Neuronal Function but Is Essential for Timely Axon Regeneration
Alban Latremoliere, Long Cheng, Michelle DeLisle, et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics
|
January 8, 2025
[Expert consensus on the standardized application of whole exome sequencing technology in diagnosis of genetic disorders]
Medical Genetics Branch Of Chinese Medical Association, Birth Defects And Molecular Genetics Branch Of China Maternal And Child Health Care Association, Clinical Genetics Professional Committee Of Shanghai Medical Association, et al.
Page
of 6
Search research articles
Search
Showing results (51-60 of 59) with videos related to
Sort By:
Page
of 6
You have reached the last page of results.
This site can display upto 59 results.
Gene
|
May 19, 2019
In vitro residual activities in 20 variants of phenylalanine hydroxylase and genotype-phenotype correlation in phenylketonuria patients
Xia Zhang, Jun Ye, Nan Shen, et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry
|
March 3, 2018
Mutation spectrum of hyperphenylalaninemia candidate genes and the genotype-phenotype correlation in the Chinese population
Ruifang Wang, Nan Shen, Jun Ye, et al.
Annals of Neurology
|
August 19, 2023
CCNK Gene Deficiency Influences Neural Progenitor Cells Via Wnt5a Signaling in CCNK-Related Syndrome
Weiqian Dai, He Wang, Yongkun Zhan, et al.
Molecular Therapy : the Journal of the American Society of Gene Therapy
|
March 5, 2026
Low-Dose AAV9-SMN1 with CNS-Selective Expression Delivers Efficacy and Favorable Safety in Spinal Muscular Atrophy
Yongguo Yu, Xiji Qin, Mengxia Jing, et al.
BMC Medical Genomics
|
May 26, 2018
Chromosomal microarray analysis in developmental delay and intellectual disability with comorbid conditions
Yanjie Fan, Yanming Wu, Lili Wang, et al.
Cellular Physiology and Biochemistry : International Journal of Experimental Cellular Physiology, Biochemistry, and Pharmacology
|
August 24, 2018
Genetic Evaluation of 114 Chinese Short Stature Children in the Next Generation Era: a Single Center Study
Zhuo Huang, Yu Sun, Yanjie Fan, et al.
American Journal of Human Genetics
|
August 21, 2018
De Novo Mutations of CCNK Cause a Syndromic Neurodevelopmental Disorder with Distinctive Facial Dysmorphism
Yanjie Fan, Wu Yin, Bing Hu, et al.
Cell Reports
|
August 16, 2018
Neuronal-Specific TUBB3 Is Not Required for Normal Neuronal Function but Is Essential for Timely Axon Regeneration
Alban Latremoliere, Long Cheng, Michelle DeLisle, et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics
|
January 8, 2025
[Expert consensus on the standardized application of whole exome sequencing technology in diagnosis of genetic disorders]
Medical Genetics Branch Of Chinese Medical Association, Birth Defects And Molecular Genetics Branch Of China Maternal And Child Health Care Association, Clinical Genetics Professional Committee Of Shanghai Medical Association, et al.
Page
of 6