Search research articles
Contact Us
Filters
Showing results (1-10 of 11) with videos related to
Page
of 2
Sort By:
European Journal of Medical Genetics
|
October 6, 2016
Before and after - Nutritional transformation of dysmorphism in a case of Costello syndrome
Annie T G Chiu, Lixing Zhu, Gary T K Mok, et al.
Human Mutation
|
November 10, 2015
Mechanisms for the Generation of Two Quadruplications Associated with Split-Hand Malformation
Shen Gu, Jennifer E Posey, Bo Yuan, et al.
Parkinsonism & Related Disorders
|
January 24, 2019
A significant inflation in TGM6 genetic risk casts doubt in its causation in spinocerebellar ataxia type 35
Jasmine L F Fung, Mandy H Y Tsang, Gordon K C Leung, et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
|
March 22, 2019
Genetic landscape of RASopathies in Chinese: Three decades' experience in Hong Kong
Kris P T Yu, Ho-Ming Luk, Gordon K C Leung, et al.
NPJ Genomic Medicine
|
December 22, 2017
<i>De novo</i> large rare copy-number variations contribute to conotruncal heart disease in Chinese patients
Christopher C Y Mak, Pak Cheong Chow, Anthony P Y Liu, et al.
Molecular Genetics & Genomic Medicine
|
March 11, 2020
Diagnostic value of whole-exome sequencing in Chinese pediatric-onset neuromuscular patients
Mandy H Y Tsang, Annie T G Chiu, Bernard M H Kwong, et al.
Scientific Reports
|
February 7, 2018
Integrating Functional Analysis in the Next-Generation Sequencing Diagnostic Pipeline of RASopathies
Gordon K C Leung, H M Luk, Vincent H M Tang, et al.
BMC Medical Genomics
|
October 26, 2018
Identifying the genetic causes for prenatally diagnosed structural congenital anomalies (SCAs) by whole-exome sequencing (WES)
Gordon K C Leung, Christopher C Y Mak, Jasmine L F Fung, et al.
Molecular Genetics & Genomic Medicine
|
January 25, 2017
<i>CFTR</i> founder mutation causes protein trafficking defects in Chinese patients with cystic fibrosis
Gordon K C Leung, Dingge Ying, Christopher C Y Mak, et al.
The Lancet Regional Health. Western Pacific
|
July 30, 2021
Rapid whole-exome sequencing facilitates precision medicine in paediatric rare disease patients and reduces healthcare costs
Claudia C Y Chung, Gordon K C Leung, Christopher C Y Mak, et al.
Page
of 2
Search research articles
Search
Showing results (1-10 of 11) with videos related to
Sort By:
Page
of 2
European Journal of Medical Genetics
|
October 6, 2016
Before and after - Nutritional transformation of dysmorphism in a case of Costello syndrome
Annie T G Chiu, Lixing Zhu, Gary T K Mok, et al.
Human Mutation
|
November 10, 2015
Mechanisms for the Generation of Two Quadruplications Associated with Split-Hand Malformation
Shen Gu, Jennifer E Posey, Bo Yuan, et al.
Parkinsonism & Related Disorders
|
January 24, 2019
A significant inflation in TGM6 genetic risk casts doubt in its causation in spinocerebellar ataxia type 35
Jasmine L F Fung, Mandy H Y Tsang, Gordon K C Leung, et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
|
March 22, 2019
Genetic landscape of RASopathies in Chinese: Three decades' experience in Hong Kong
Kris P T Yu, Ho-Ming Luk, Gordon K C Leung, et al.
NPJ Genomic Medicine
|
December 22, 2017
<i>De novo</i> large rare copy-number variations contribute to conotruncal heart disease in Chinese patients
Christopher C Y Mak, Pak Cheong Chow, Anthony P Y Liu, et al.
Molecular Genetics & Genomic Medicine
|
March 11, 2020
Diagnostic value of whole-exome sequencing in Chinese pediatric-onset neuromuscular patients
Mandy H Y Tsang, Annie T G Chiu, Bernard M H Kwong, et al.
Scientific Reports
|
February 7, 2018
Integrating Functional Analysis in the Next-Generation Sequencing Diagnostic Pipeline of RASopathies
Gordon K C Leung, H M Luk, Vincent H M Tang, et al.
BMC Medical Genomics
|
October 26, 2018
Identifying the genetic causes for prenatally diagnosed structural congenital anomalies (SCAs) by whole-exome sequencing (WES)
Gordon K C Leung, Christopher C Y Mak, Jasmine L F Fung, et al.
Molecular Genetics & Genomic Medicine
|
January 25, 2017
<i>CFTR</i> founder mutation causes protein trafficking defects in Chinese patients with cystic fibrosis
Gordon K C Leung, Dingge Ying, Christopher C Y Mak, et al.
The Lancet Regional Health. Western Pacific
|
July 30, 2021
Rapid whole-exome sequencing facilitates precision medicine in paediatric rare disease patients and reduces healthcare costs
Claudia C Y Chung, Gordon K C Leung, Christopher C Y Mak, et al.
Page
of 2