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Stephen W Scherer

Showing results (81-90 of 499) with videos related to

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American Journal of Medical Genetics. Part A|January 29, 2011
2q23 de novo microdeletion involving the MBD5 gene in a patient with developmental delay, postnatal microcephaly and distinct facial featuresBrian H Y Chung, James Stavropoulos, Christian R Marshall, et al.
Pediatric Neurology|August 14, 2012
Mutation of the CLN6 gene in teenage-onset progressive myoclonus epilepsyDanielle M Andrade, Tara Paton, Julie Turnbull, et al.
JAMA Psychiatry|December 1, 2021
Deletion of Loss-of-Function-Intolerant Genes and Risk of 5 Psychiatric DisordersMichael Wainberg, Daniele Merico, Guillaume Huguet, et al.
Human Molecular Genetics|September 23, 2008
Copy number variations and risk for schizophrenia in 22q11.2 deletion syndromeAnne S Bassett, Christian R Marshall, Anath C Lionel, et al.
American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics|January 19, 2020
Refining critical regions in 15q24 microdeletion syndrome pertaining to autismYi Liu, Yanqing Zhang, Mehdi Zarrei, et al.
American Journal of Medical Genetics. Part A|December 31, 2013
Clinical characteristics in patients with interstitial deletions of chromosome region 12q21-q22 and identification of a critical region associated with keratosis pilarisAlmundher Al-Maawali, Christian R Marshall, Stephen W Scherer, et al.
Plos Genetics|April 26, 2008
SNPs meet CNVs in genome-wide association studies: HGV2007 meeting reportXavier Estivill, Nancy J Cox, Stephen J Chanock, et al.
European Journal of Human Genetics : EJHG|February 23, 2026
Flexible and rapid validation of structural variation using adaptive samplingAida Paivandy, Felix Lenner, Jesper Eisfeldt, et al.
European Journal of Human Genetics : EJHG|September 6, 2022
Developmental implications of genetic testing for physical indicationsDanielle A Baribeau, Ny Hoang, Thanuja Selvanayagam, et al.
G3 (Bethesda, Md.)|November 7, 2013
Performance of high-throughput sequencing for the discovery of genetic variation across the complete size spectrumAndy Wing Chun Pang, Jeffrey R Macdonald, Ryan K C Yuen, et al.
Pageof 50

Showing results (81-90 of 499) with videos related to

Sort By:
Pageof 50
American Journal of Medical Genetics. Part A|January 29, 2011
2q23 de novo microdeletion involving the MBD5 gene in a patient with developmental delay, postnatal microcephaly and distinct facial featuresBrian H Y Chung, James Stavropoulos, Christian R Marshall, et al.
Pediatric Neurology|August 14, 2012
Mutation of the CLN6 gene in teenage-onset progressive myoclonus epilepsyDanielle M Andrade, Tara Paton, Julie Turnbull, et al.
JAMA Psychiatry|December 1, 2021
Deletion of Loss-of-Function-Intolerant Genes and Risk of 5 Psychiatric DisordersMichael Wainberg, Daniele Merico, Guillaume Huguet, et al.
Human Molecular Genetics|September 23, 2008
Copy number variations and risk for schizophrenia in 22q11.2 deletion syndromeAnne S Bassett, Christian R Marshall, Anath C Lionel, et al.
American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics|January 19, 2020
Refining critical regions in 15q24 microdeletion syndrome pertaining to autismYi Liu, Yanqing Zhang, Mehdi Zarrei, et al.
American Journal of Medical Genetics. Part A|December 31, 2013
Clinical characteristics in patients with interstitial deletions of chromosome region 12q21-q22 and identification of a critical region associated with keratosis pilarisAlmundher Al-Maawali, Christian R Marshall, Stephen W Scherer, et al.
Plos Genetics|April 26, 2008
SNPs meet CNVs in genome-wide association studies: HGV2007 meeting reportXavier Estivill, Nancy J Cox, Stephen J Chanock, et al.
European Journal of Human Genetics : EJHG|February 23, 2026
Flexible and rapid validation of structural variation using adaptive samplingAida Paivandy, Felix Lenner, Jesper Eisfeldt, et al.
European Journal of Human Genetics : EJHG|September 6, 2022
Developmental implications of genetic testing for physical indicationsDanielle A Baribeau, Ny Hoang, Thanuja Selvanayagam, et al.
G3 (Bethesda, Md.)|November 7, 2013
Performance of high-throughput sequencing for the discovery of genetic variation across the complete size spectrumAndy Wing Chun Pang, Jeffrey R Macdonald, Ryan K C Yuen, et al.
Pageof 50