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Weimin Bi

Showing results (51-60 of 138) with videos related to

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Research Square|March 11, 2024
Genomic Balancing Act: Deciphering DNA rearrangements in the Complex Chromosomal Aberration involving 5p15.2, 2q31.1 and 18q21.32James Lupski, Zain Dardas, Dana Marafi, et al.
American Journal of Medical Genetics. Part A|February 10, 2018
Two de novo novel mutations in one SHANK3 allele in a patient with autism and moderate intellectual disabilityWenmiao Zhu, Jianli Li, Stella Chen, et al.
European Journal of Human Genetics : EJHG|January 16, 2014
CHRNA7 triplication associated with cognitive impairment and neuropsychiatric phenotypes in a three-generation pedigreeClaudia Soler-Alfonso, Claudia M B Carvalho, Jun Ge, et al.
The Journal of Allergy and Clinical Immunology|April 18, 2017
Novel PIK3CD mutations affecting N-terminal residues of p110δ cause activated PI3Kδ syndrome (APDS) in humansAndrew J Takeda, Yu Zhang, Gillian L Dornan, et al.
European Journal of Human Genetics : EJHG|October 16, 2014
Neurodevelopmental and neurobehavioral characteristics in males and females with CDKL5 duplicationsPrzemyslaw Szafranski, Sailaja Golla, Weihong Jin, et al.
European Journal of Human Genetics : EJHG|January 9, 2014
Somatic mosaicism detected by exon-targeted, high-resolution aCGH in 10,362 consecutive casesJustin Pham, Chad Shaw, Amber Pursley, et al.
American Journal of Medical Genetics. Part A|October 22, 2019
Biallelic mutation of FBXL7 suggests a novel form of Hennekam syndromePhilip M Boone, Scott Paterson, Kiana Mohajeri, et al.
Cell Stress & Chaperones|June 23, 2016
Association between circulating inflammatory molecules and alcoholic liver disease in menBao-Ge Qu, Weimin Bi, Yi-Guo Jia, et al.
Genomics|May 11, 2020
Parental somatic mosaicism for CNV deletions - A need for more sensitive and precise detection methods in clinical diagnostics settingsQian Liu, Justyna A Karolak, Christopher M Grochowski, et al.
Human Molecular Genetics|April 25, 2015
Alu-mediated diverse and complex pathogenic copy-number variants within human chromosome 17 at p13.3Shen Gu, Bo Yuan, Ian M Campbell, et al.
Pageof 14

Showing results (51-60 of 138) with videos related to

Sort By:
Pageof 14
Research Square|March 11, 2024
Genomic Balancing Act: Deciphering DNA rearrangements in the Complex Chromosomal Aberration involving 5p15.2, 2q31.1 and 18q21.32James Lupski, Zain Dardas, Dana Marafi, et al.
American Journal of Medical Genetics. Part A|February 10, 2018
Two de novo novel mutations in one SHANK3 allele in a patient with autism and moderate intellectual disabilityWenmiao Zhu, Jianli Li, Stella Chen, et al.
European Journal of Human Genetics : EJHG|January 16, 2014
CHRNA7 triplication associated with cognitive impairment and neuropsychiatric phenotypes in a three-generation pedigreeClaudia Soler-Alfonso, Claudia M B Carvalho, Jun Ge, et al.
The Journal of Allergy and Clinical Immunology|April 18, 2017
Novel PIK3CD mutations affecting N-terminal residues of p110δ cause activated PI3Kδ syndrome (APDS) in humansAndrew J Takeda, Yu Zhang, Gillian L Dornan, et al.
European Journal of Human Genetics : EJHG|October 16, 2014
Neurodevelopmental and neurobehavioral characteristics in males and females with CDKL5 duplicationsPrzemyslaw Szafranski, Sailaja Golla, Weihong Jin, et al.
European Journal of Human Genetics : EJHG|January 9, 2014
Somatic mosaicism detected by exon-targeted, high-resolution aCGH in 10,362 consecutive casesJustin Pham, Chad Shaw, Amber Pursley, et al.
American Journal of Medical Genetics. Part A|October 22, 2019
Biallelic mutation of FBXL7 suggests a novel form of Hennekam syndromePhilip M Boone, Scott Paterson, Kiana Mohajeri, et al.
Cell Stress & Chaperones|June 23, 2016
Association between circulating inflammatory molecules and alcoholic liver disease in menBao-Ge Qu, Weimin Bi, Yi-Guo Jia, et al.
Genomics|May 11, 2020
Parental somatic mosaicism for CNV deletions - A need for more sensitive and precise detection methods in clinical diagnostics settingsQian Liu, Justyna A Karolak, Christopher M Grochowski, et al.
Human Molecular Genetics|April 25, 2015
Alu-mediated diverse and complex pathogenic copy-number variants within human chromosome 17 at p13.3Shen Gu, Bo Yuan, Ian M Campbell, et al.
Pageof 14