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L Beaulieu

Showing results (181-190 of 187) with videos related to

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Clinical Genetics|February 8, 2017
Debunking Occam's razor: Diagnosing multiple genetic diseases in families by whole-exome sequencingT B Balci, T Hartley, Y Xi, et al.
Nature Genetics|April 2, 2013
Mutations in STAMBP, encoding a deubiquitinating enzyme, cause microcephaly-capillary malformation syndromeLaura M McDonell, Ghayda M Mirzaa, Diana Alcantara, et al.
Nature Genetics|June 26, 2012
De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromesJean-Baptiste Rivière, Ghayda M Mirzaa, Brian J O'Roak, et al.
American Journal of Human Genetics|December 14, 2011
TMEM237 is mutated in individuals with a Joubert syndrome related disorder and expands the role of the TMEM family at the ciliary transition zoneLijia Huang, Katarzyna Szymanska, Victor L Jensen, et al.
Clinical Genetics|August 19, 2015
Utility of whole-exome sequencing for those near the end of the diagnostic odyssey: time to address gaps in careS L Sawyer, T Hartley, D A Dyment, et al.
Orphanet Journal of Rare Diseases|April 30, 2013
The phenotype of Floating-Harbor syndrome: clinical characterization of 52 individuals with mutations in exon 34 of SRCAPSarah M Nikkel, Andrew Dauber, Sonja de Munnik, et al.
Nature Cell Biology|July 14, 2015
An siRNA-based functional genomics screen for the identification of regulators of ciliogenesis and ciliopathy genesGabrielle Wheway, Miriam Schmidts, Dorus A Mans, et al.
Pageof 19

Showing results (181-190 of 187) with videos related to

Sort By:
Pageof 19
You have reached the last page of results.This site can display upto 187 results.
Clinical Genetics|February 8, 2017
Debunking Occam's razor: Diagnosing multiple genetic diseases in families by whole-exome sequencingT B Balci, T Hartley, Y Xi, et al.
Nature Genetics|April 2, 2013
Mutations in STAMBP, encoding a deubiquitinating enzyme, cause microcephaly-capillary malformation syndromeLaura M McDonell, Ghayda M Mirzaa, Diana Alcantara, et al.
Nature Genetics|June 26, 2012
De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromesJean-Baptiste Rivière, Ghayda M Mirzaa, Brian J O'Roak, et al.
American Journal of Human Genetics|December 14, 2011
TMEM237 is mutated in individuals with a Joubert syndrome related disorder and expands the role of the TMEM family at the ciliary transition zoneLijia Huang, Katarzyna Szymanska, Victor L Jensen, et al.
Clinical Genetics|August 19, 2015
Utility of whole-exome sequencing for those near the end of the diagnostic odyssey: time to address gaps in careS L Sawyer, T Hartley, D A Dyment, et al.
Orphanet Journal of Rare Diseases|April 30, 2013
The phenotype of Floating-Harbor syndrome: clinical characterization of 52 individuals with mutations in exon 34 of SRCAPSarah M Nikkel, Andrew Dauber, Sonja de Munnik, et al.
Nature Cell Biology|July 14, 2015
An siRNA-based functional genomics screen for the identification of regulators of ciliogenesis and ciliopathy genesGabrielle Wheway, Miriam Schmidts, Dorus A Mans, et al.
Pageof 19