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H C Yu

Showing results (91-100 of 100) with videos related to

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Molecular Genetics & Genomic Medicine|March 11, 2020
Diagnostic value of whole-exome sequencing in Chinese pediatric-onset neuromuscular patientsMandy 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 RASopathiesGordon K C Leung, H M Luk, Vincent H M Tang, et al.
Molecular Genetics & Genomic Medicine|May 1, 2020
The KLHL40 c.1516A>C is a Chinese-specific founder mutation causing nemaline myopathy 8: Report of six patients with pre- and postnatal phenotypesKit San Yeung, Florrie N Y Yu, Cheuk Wing Fung, et al.
Clinical Genetics|December 15, 2017
Okur-Chung neurodevelopmental syndrome: Eight additional cases with implications on phenotype and genotype expansionA T G Chiu, S L C Pei, C C Y Mak, 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.
Computers in Biology and Medicine|December 19, 2024
UniVar: A variant interpretation platform enhancing rare disease diagnosis through robust filtering and unified analysis of SNV, INDEL, CNV and SVCherie C Y Au-Yeung, Yuen-Ting Cheung, Joshua Y T Cheng, et al.
Human Genomics|September 10, 2020
Delineation of molecular findings by whole-exome sequencing for suspected cases of paediatric-onset mitochondrial diseases in the Southern Chinese populationMandy H Y Tsang, Anna K Y Kwong, Kate L S Chan, et al.
Journal of the American Society of Echocardiography : Official Publication of the American Society of Echocardiography|November 11, 2008
American Society of Echocardiography Consensus Statement on the Clinical Applications of Ultrasonic Contrast Agents in EchocardiographySharon L Mulvagh, Harry Rakowski, Mani A Vannan, 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 costsClaudia C Y Chung, Gordon K C Leung, Christopher C Y Mak, et al.
Nature Genetics|August 18, 2022
Rare coding variation provides insight into the genetic architecture and phenotypic context of autismJack M Fu, F Kyle Satterstrom, Minshi Peng, et al.
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Showing results (91-100 of 100) with videos related to

Sort By:
Pageof 10
You have reached the last page of results.This site can display upto 100 results.
Molecular Genetics & Genomic Medicine|March 11, 2020
Diagnostic value of whole-exome sequencing in Chinese pediatric-onset neuromuscular patientsMandy 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 RASopathiesGordon K C Leung, H M Luk, Vincent H M Tang, et al.
Molecular Genetics & Genomic Medicine|May 1, 2020
The KLHL40 c.1516A>C is a Chinese-specific founder mutation causing nemaline myopathy 8: Report of six patients with pre- and postnatal phenotypesKit San Yeung, Florrie N Y Yu, Cheuk Wing Fung, et al.
Clinical Genetics|December 15, 2017
Okur-Chung neurodevelopmental syndrome: Eight additional cases with implications on phenotype and genotype expansionA T G Chiu, S L C Pei, C C Y Mak, 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.
Computers in Biology and Medicine|December 19, 2024
UniVar: A variant interpretation platform enhancing rare disease diagnosis through robust filtering and unified analysis of SNV, INDEL, CNV and SVCherie C Y Au-Yeung, Yuen-Ting Cheung, Joshua Y T Cheng, et al.
Human Genomics|September 10, 2020
Delineation of molecular findings by whole-exome sequencing for suspected cases of paediatric-onset mitochondrial diseases in the Southern Chinese populationMandy H Y Tsang, Anna K Y Kwong, Kate L S Chan, et al.
Journal of the American Society of Echocardiography : Official Publication of the American Society of Echocardiography|November 11, 2008
American Society of Echocardiography Consensus Statement on the Clinical Applications of Ultrasonic Contrast Agents in EchocardiographySharon L Mulvagh, Harry Rakowski, Mani A Vannan, 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 costsClaudia C Y Chung, Gordon K C Leung, Christopher C Y Mak, et al.
Nature Genetics|August 18, 2022
Rare coding variation provides insight into the genetic architecture and phenotypic context of autismJack M Fu, F Kyle Satterstrom, Minshi Peng, et al.
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