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Christopher M Grochowski

Showing results (21-30 of 72) with videos related to

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American Journal of Medical Genetics. Part A|October 15, 2015
Discordant clinical phenotype in monozygotic twins with Alagille syndrome: Possible influence of non-genetic factorsKosuke Izumi, Daisuke Hayashi, Christopher M Grochowski, et al.
BMC Gastroenterology|November 20, 2015
A de novo whole gene deletion of XIAP detected by exome sequencing analysis in very early onset inflammatory bowel disease: a case reportJudith R Kelsen, Noor Dawany, Alejandro Martinez, et al.
American Journal of Medical Genetics. Part A|April 7, 2026
De Novo Complex Genomic Rearrangement Spanning 2q31.1 in a Proband With Congenital Malformations: Genotype-Phenotype Correlation and Development of a CGR Detection PipelineKatherine Helle, Jesse D Bengtsson, Mira Gandhi, et al.
Genome Medicine|December 11, 2019
Distinct patterns of complex rearrangements and a mutational signature of microhomeology are frequently observed in PLP1 copy number gain structural variantsVahid Bahrambeigi, Xiaofei Song, Karen Sperle, et al.
Human Mutation|April 27, 2018
Marker chromosome genomic structure and temporal origin implicate a chromoanasynthesis event in a family with pleiotropic psychiatric phenotypesChristopher M Grochowski, Shen Gu, Bo Yuan, et al.
Plos Genetics|August 14, 2018
A genome-wide association study identifies a susceptibility locus for biliary atresia on 2p16.1 within the gene EFEMP1Ying Chen, Melissa A Gilbert, Christopher M Grochowski, et al.
Nature Biotechnology|January 22, 2024
Publisher Correction: Detection of mosaic and population-level structural variants with Sniffles2Moritz Smolka, Luis F Paulin, Christopher M Grochowski, et al.
Nature Biotechnology|January 3, 2024
Detection of mosaic and population-level structural variants with Sniffles2Moritz Smolka, Luis F Paulin, Christopher M Grochowski, et al.
American Journal of Medical Genetics. Part A|October 13, 2020
Novel pathogenic genomic variants leading to autosomal dominant and recessive Robinow syndromeChaofan Zhang, Juliana F Mazzeu, Jesper Eisfeldt, et al.
Human Mutation|January 17, 2020
Protein-elongating mutations in MYH11 are implicated in a dominantly inherited smooth muscle dysmotility syndrome with severe esophageal, gastric, and intestinal diseaseMelissa A Gilbert, Laura Schultz-Rogers, Ramakrishnan Rajagopalan, et al.
Pageof 8

Showing results (21-30 of 72) with videos related to

Sort By:
Pageof 8
American Journal of Medical Genetics. Part A|October 15, 2015
Discordant clinical phenotype in monozygotic twins with Alagille syndrome: Possible influence of non-genetic factorsKosuke Izumi, Daisuke Hayashi, Christopher M Grochowski, et al.
BMC Gastroenterology|November 20, 2015
A de novo whole gene deletion of XIAP detected by exome sequencing analysis in very early onset inflammatory bowel disease: a case reportJudith R Kelsen, Noor Dawany, Alejandro Martinez, et al.
American Journal of Medical Genetics. Part A|April 7, 2026
De Novo Complex Genomic Rearrangement Spanning 2q31.1 in a Proband With Congenital Malformations: Genotype-Phenotype Correlation and Development of a CGR Detection PipelineKatherine Helle, Jesse D Bengtsson, Mira Gandhi, et al.
Genome Medicine|December 11, 2019
Distinct patterns of complex rearrangements and a mutational signature of microhomeology are frequently observed in PLP1 copy number gain structural variantsVahid Bahrambeigi, Xiaofei Song, Karen Sperle, et al.
Human Mutation|April 27, 2018
Marker chromosome genomic structure and temporal origin implicate a chromoanasynthesis event in a family with pleiotropic psychiatric phenotypesChristopher M Grochowski, Shen Gu, Bo Yuan, et al.
Plos Genetics|August 14, 2018
A genome-wide association study identifies a susceptibility locus for biliary atresia on 2p16.1 within the gene EFEMP1Ying Chen, Melissa A Gilbert, Christopher M Grochowski, et al.
Nature Biotechnology|January 22, 2024
Publisher Correction: Detection of mosaic and population-level structural variants with Sniffles2Moritz Smolka, Luis F Paulin, Christopher M Grochowski, et al.
Nature Biotechnology|January 3, 2024
Detection of mosaic and population-level structural variants with Sniffles2Moritz Smolka, Luis F Paulin, Christopher M Grochowski, et al.
American Journal of Medical Genetics. Part A|October 13, 2020
Novel pathogenic genomic variants leading to autosomal dominant and recessive Robinow syndromeChaofan Zhang, Juliana F Mazzeu, Jesper Eisfeldt, et al.
Human Mutation|January 17, 2020
Protein-elongating mutations in MYH11 are implicated in a dominantly inherited smooth muscle dysmotility syndrome with severe esophageal, gastric, and intestinal diseaseMelissa A Gilbert, Laura Schultz-Rogers, Ramakrishnan Rajagopalan, et al.
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