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Philip Stanier

Showing results (51-60 of 69) with videos related to

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American Journal of Medical Genetics. Part A|January 18, 2018
Cutis laxa and excessive bone growth due to de novo mutations in PTDSS1Juliette Piard, James Lespinasse, Marketa Vlckova, et al.
Plos One|January 24, 2014
Paternally expressed, imprinted insulin-like growth factor-2 in chorionic villi correlates significantly with birth weightCharalambos Demetriou, Sayeda Abu-Amero, Anna C Thomas, et al.
BMC Genetics|April 21, 2010
High-throughput analysis of candidate imprinted genes and allele-specific gene expression in the human term placentaCaroline Daelemans, Matthew E Ritchie, Guillaume Smits, et al.
The Journal of Investigative Dermatology|February 9, 2013
Multiple congenital melanocytic nevi and neurocutaneous melanosis are caused by postzygotic mutations in codon 61 of NRASVeronica A Kinsler, Anna C Thomas, Miho Ishida, et al.
Current Biology : CB|July 5, 2003
Mutation of Celsr1 disrupts planar polarity of inner ear hair cells and causes severe neural tube defects in the mouseJohn A Curtin, Elizabeth Quint, Vicky Tsipouri, et al.
Epigenomics|January 15, 2019
Evidence for DNA methylation mediating genetic liability to non-syndromic cleft lip/palateLaurence J Howe, Tom G Richardson, Ryan Arathimos, et al.
Genome Biology|November 27, 2015
Trans effects of chromosome aneuploidies on DNA methylation patterns in human Down syndrome and mouse modelsMaite Mendioroz, Catherine Do, Xiaoling Jiang, et al.
Nature Genetics|November 19, 2013
Gain-of-function mutations in the phosphatidylserine synthase 1 (PTDSS1) gene cause Lenz-Majewski syndromeSérgio B Sousa, Dagan Jenkins, Estelle Chanudet, et al.
Human Molecular Genetics|December 16, 2011
Mutations in genes encoding the glycine cleavage system predispose to neural tube defects in mice and humansAyumi Narisawa, Shoko Komatsuzaki, Atsuo Kikuchi, et al.
Nature Genetics|January 25, 2011
Mutations in lectin complement pathway genes COLEC11 and MASP1 cause 3MC syndromeCaroline Rooryck, Anna Diaz-Font, Daniel P S Osborn, et al.
Pageof 7

Showing results (51-60 of 69) with videos related to

Sort By:
Pageof 7
American Journal of Medical Genetics. Part A|January 18, 2018
Cutis laxa and excessive bone growth due to de novo mutations in PTDSS1Juliette Piard, James Lespinasse, Marketa Vlckova, et al.
Plos One|January 24, 2014
Paternally expressed, imprinted insulin-like growth factor-2 in chorionic villi correlates significantly with birth weightCharalambos Demetriou, Sayeda Abu-Amero, Anna C Thomas, et al.
BMC Genetics|April 21, 2010
High-throughput analysis of candidate imprinted genes and allele-specific gene expression in the human term placentaCaroline Daelemans, Matthew E Ritchie, Guillaume Smits, et al.
The Journal of Investigative Dermatology|February 9, 2013
Multiple congenital melanocytic nevi and neurocutaneous melanosis are caused by postzygotic mutations in codon 61 of NRASVeronica A Kinsler, Anna C Thomas, Miho Ishida, et al.
Current Biology : CB|July 5, 2003
Mutation of Celsr1 disrupts planar polarity of inner ear hair cells and causes severe neural tube defects in the mouseJohn A Curtin, Elizabeth Quint, Vicky Tsipouri, et al.
Epigenomics|January 15, 2019
Evidence for DNA methylation mediating genetic liability to non-syndromic cleft lip/palateLaurence J Howe, Tom G Richardson, Ryan Arathimos, et al.
Genome Biology|November 27, 2015
Trans effects of chromosome aneuploidies on DNA methylation patterns in human Down syndrome and mouse modelsMaite Mendioroz, Catherine Do, Xiaoling Jiang, et al.
Nature Genetics|November 19, 2013
Gain-of-function mutations in the phosphatidylserine synthase 1 (PTDSS1) gene cause Lenz-Majewski syndromeSérgio B Sousa, Dagan Jenkins, Estelle Chanudet, et al.
Human Molecular Genetics|December 16, 2011
Mutations in genes encoding the glycine cleavage system predispose to neural tube defects in mice and humansAyumi Narisawa, Shoko Komatsuzaki, Atsuo Kikuchi, et al.
Nature Genetics|January 25, 2011
Mutations in lectin complement pathway genes COLEC11 and MASP1 cause 3MC syndromeCaroline Rooryck, Anna Diaz-Font, Daniel P S Osborn, et al.
Pageof 7