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Weimin Bi

Showing results (71-80 of 138) with videos related to

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American Journal of Human Genetics|December 2, 2019
Validation Studies for Single Circulating Trophoblast Genetic Testing as a Form of Noninvasive Prenatal DiagnosisLiesbeth Vossaert, Qun Wang, Roseen Salman, et al.
Plos Genetics|October 3, 2013
Fusion of large-scale genomic knowledge and frequency data computationally prioritizes variants in epilepsyIan M Campbell, Mitchell Rao, Sean D Arredondo, et al.
Genome Medicine|July 28, 2019
A clinical survey of mosaic single nucleotide variants in disease-causing genes detected by exome sequencingYe Cao, Mari J Tokita, Edward S Chen, et al.
Clinical Genetics|May 8, 2021
PPP3CA truncating variants clustered in the regulatory domain cause early-onset refractory epilepsySugi Panneerselvam, Julia Wang, Wenmiao Zhu, et al.
Plos Genetics|November 24, 2016
Mechanisms for Complex Chromosomal InsertionsShen Gu, Przemyslaw Szafranski, Zeynep Coban Akdemir, et al.
Prenatal Diagnosis|November 18, 2008
Clinical use of array comparative genomic hybridization (aCGH) for prenatal diagnosis in 300 casesIgnatia B Van den Veyver, Ankita Patel, Chad A Shaw, et al.
American Journal of Medical Genetics. Part A|December 20, 2022
Expansion of the clinical and molecular spectrum of WWOX-related epileptic encephalopathyShuk Ching Chong, Ye Cao, Eva L W Fung, et al.
European Journal of Human Genetics : EJHG|May 23, 2013
Combined array CGH plus SNP genome analyses in a single assay for optimized clinical testingJoanna Wiszniewska, Weimin Bi, Chad Shaw, et al.
Genome Medicine|April 3, 2024
NODAL variants are associated with a continuum of laterality defects from simple D-transposition of the great arteries to heterotaxyZain Dardas, Jawid M Fatih, Angad Jolly, et al.
Journal of Medical Genetics|September 23, 2022
Recurring germline mosaicism in a family due to reversion of an inherited derivative chromosome 8 from an 8;21 translocation with interstitial telomeric sequencesWeimin Bi, Bo Yuan, Pengfei Liu, et al.
Pageof 14

Showing results (71-80 of 138) with videos related to

Sort By:
Pageof 14
American Journal of Human Genetics|December 2, 2019
Validation Studies for Single Circulating Trophoblast Genetic Testing as a Form of Noninvasive Prenatal DiagnosisLiesbeth Vossaert, Qun Wang, Roseen Salman, et al.
Plos Genetics|October 3, 2013
Fusion of large-scale genomic knowledge and frequency data computationally prioritizes variants in epilepsyIan M Campbell, Mitchell Rao, Sean D Arredondo, et al.
Genome Medicine|July 28, 2019
A clinical survey of mosaic single nucleotide variants in disease-causing genes detected by exome sequencingYe Cao, Mari J Tokita, Edward S Chen, et al.
Clinical Genetics|May 8, 2021
PPP3CA truncating variants clustered in the regulatory domain cause early-onset refractory epilepsySugi Panneerselvam, Julia Wang, Wenmiao Zhu, et al.
Plos Genetics|November 24, 2016
Mechanisms for Complex Chromosomal InsertionsShen Gu, Przemyslaw Szafranski, Zeynep Coban Akdemir, et al.
Prenatal Diagnosis|November 18, 2008
Clinical use of array comparative genomic hybridization (aCGH) for prenatal diagnosis in 300 casesIgnatia B Van den Veyver, Ankita Patel, Chad A Shaw, et al.
American Journal of Medical Genetics. Part A|December 20, 2022
Expansion of the clinical and molecular spectrum of WWOX-related epileptic encephalopathyShuk Ching Chong, Ye Cao, Eva L W Fung, et al.
European Journal of Human Genetics : EJHG|May 23, 2013
Combined array CGH plus SNP genome analyses in a single assay for optimized clinical testingJoanna Wiszniewska, Weimin Bi, Chad Shaw, et al.
Genome Medicine|April 3, 2024
NODAL variants are associated with a continuum of laterality defects from simple D-transposition of the great arteries to heterotaxyZain Dardas, Jawid M Fatih, Angad Jolly, et al.
Journal of Medical Genetics|September 23, 2022
Recurring germline mosaicism in a family due to reversion of an inherited derivative chromosome 8 from an 8;21 translocation with interstitial telomeric sequencesWeimin Bi, Bo Yuan, Pengfei Liu, et al.
Pageof 14