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Charles Shaw-Smith

Showing results (41-50 of 47) with videos related to

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Human Mutation|June 14, 2018
Further delineation of Malan syndromeManuela Priolo, Denny Schanze, Katrin Tatton-Brown, et al.
American Journal of Human Genetics|May 22, 2024
The impact of inversions across 33,924 families with rare disease from a national genome sequencing projectAlistair T Pagnamenta, Jing Yu, Susan Walker, et al.
Nature|April 21, 2006
DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineageMichael C Zody, Manuel Garber, David J Adams, et al.
Human Mutation|March 19, 2013
Novel FOXF1 mutations in sporadic and familial cases of alveolar capillary dysplasia with misaligned pulmonary veins imply a role for its DNA binding domainPartha Sen, Yaping Yang, Colby Navarro, et al.
Human Genetics|April 14, 2016
Pathogenetics of alveolar capillary dysplasia with misalignment of pulmonary veinsPrzemyslaw Szafranski, Tomasz Gambin, Avinash V Dharmadhikari, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|February 18, 2021
DLG4-related synaptopathy: a new rare brain disorderAgustí Rodríguez-Palmero, Melissa Maria Boerrigter, David Gómez-Andrés, et al.
Nature|March 18, 2005
The DNA sequence of the human X chromosomeMark T Ross, Darren V Grafham, Alison J Coffey, et al.
Pageof 5

Showing results (41-50 of 47) with videos related to

Sort By:
Pageof 5
You have reached the last page of results.This site can display upto 47 results.
Human Mutation|June 14, 2018
Further delineation of Malan syndromeManuela Priolo, Denny Schanze, Katrin Tatton-Brown, et al.
American Journal of Human Genetics|May 22, 2024
The impact of inversions across 33,924 families with rare disease from a national genome sequencing projectAlistair T Pagnamenta, Jing Yu, Susan Walker, et al.
Nature|April 21, 2006
DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineageMichael C Zody, Manuel Garber, David J Adams, et al.
Human Mutation|March 19, 2013
Novel FOXF1 mutations in sporadic and familial cases of alveolar capillary dysplasia with misaligned pulmonary veins imply a role for its DNA binding domainPartha Sen, Yaping Yang, Colby Navarro, et al.
Human Genetics|April 14, 2016
Pathogenetics of alveolar capillary dysplasia with misalignment of pulmonary veinsPrzemyslaw Szafranski, Tomasz Gambin, Avinash V Dharmadhikari, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|February 18, 2021
DLG4-related synaptopathy: a new rare brain disorderAgustí Rodríguez-Palmero, Melissa Maria Boerrigter, David Gómez-Andrés, et al.
Nature|March 18, 2005
The DNA sequence of the human X chromosomeMark T Ross, Darren V Grafham, Alison J Coffey, et al.
Pageof 5