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Martin Kircher

Showing results (81-90 of 89) with videos related to

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The New England Journal of Medicine|August 21, 2014
Somatic mutations in cerebral cortical malformationsSaumya S Jamuar, Anh-Thu N Lam, Martin Kircher, et al.
Genome Research|April 29, 2015
Exome sequencing reveals pathogenic mutations in 91 strains of mice with Mendelian disordersHeather Fairfield, Anuj Srivastava, Guruprasad Ananda, et al.
American Journal of Respiratory and Critical Care Medicine|February 27, 2014
Mutations in RSPH1 cause primary ciliary dyskinesia with a unique clinical and ciliary phenotypeMichael R Knowles, Lawrence E Ostrowski, Margaret W Leigh, et al.
Nature|February 9, 2023
Aberrant phase separation and nucleolar dysfunction in rare genetic diseasesMartin A Mensah, Henri Niskanen, Alexandre P Magalhaes, et al.
Nature|December 20, 2013
The complete genome sequence of a Neanderthal from the Altai MountainsKay Prüfer, Fernando Racimo, Nick Patterson, et al.
American Journal of Human Genetics|July 14, 2015
The Genetic Basis of Mendelian Phenotypes: Discoveries, Challenges, and OpportunitiesJessica X Chong, Kati J Buckingham, Shalini N Jhangiani, et al.
Science (New York, N.Y.)|May 8, 2010
A draft sequence of the Neandertal genomeRichard E Green, Johannes Krause, Adrian W Briggs, et al.
JCI Insight|September 16, 2016
<i>PIK3CA</i>-associated developmental disorders exhibit distinct classes of mutations with variable expression and tissue distributionGhayda Mirzaa, Andrew E Timms, Valerio Conti, et al.
Human Mutation|March 3, 2016
ALG1-CDG: Clinical and Molecular Characterization of 39 Unreported PatientsBobby G Ng, Sergey A Shiryaev, Daisy Rymen, et al.
Pageof 9

Showing results (81-90 of 89) with videos related to

Sort By:
Pageof 9
You have reached the last page of results.This site can display upto 89 results.
The New England Journal of Medicine|August 21, 2014
Somatic mutations in cerebral cortical malformationsSaumya S Jamuar, Anh-Thu N Lam, Martin Kircher, et al.
Genome Research|April 29, 2015
Exome sequencing reveals pathogenic mutations in 91 strains of mice with Mendelian disordersHeather Fairfield, Anuj Srivastava, Guruprasad Ananda, et al.
American Journal of Respiratory and Critical Care Medicine|February 27, 2014
Mutations in RSPH1 cause primary ciliary dyskinesia with a unique clinical and ciliary phenotypeMichael R Knowles, Lawrence E Ostrowski, Margaret W Leigh, et al.
Nature|February 9, 2023
Aberrant phase separation and nucleolar dysfunction in rare genetic diseasesMartin A Mensah, Henri Niskanen, Alexandre P Magalhaes, et al.
Nature|December 20, 2013
The complete genome sequence of a Neanderthal from the Altai MountainsKay Prüfer, Fernando Racimo, Nick Patterson, et al.
American Journal of Human Genetics|July 14, 2015
The Genetic Basis of Mendelian Phenotypes: Discoveries, Challenges, and OpportunitiesJessica X Chong, Kati J Buckingham, Shalini N Jhangiani, et al.
Science (New York, N.Y.)|May 8, 2010
A draft sequence of the Neandertal genomeRichard E Green, Johannes Krause, Adrian W Briggs, et al.
JCI Insight|September 16, 2016
<i>PIK3CA</i>-associated developmental disorders exhibit distinct classes of mutations with variable expression and tissue distributionGhayda Mirzaa, Andrew E Timms, Valerio Conti, et al.
Human Mutation|March 3, 2016
ALG1-CDG: Clinical and Molecular Characterization of 39 Unreported PatientsBobby G Ng, Sergey A Shiryaev, Daisy Rymen, et al.
Pageof 9