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Philip Stanier

Showing results (61-70 of 69) with videos related to

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Philosophical Transactions of the Royal Society of London. Series B, Biological Sciences|January 21, 2015
The role and interaction of imprinted genes in human fetal growthGudrun E Moore, Miho Ishida, Charalambos Demetriou, et al.
Plos Genetics|January 13, 2017
Mutations in HYAL2, Encoding Hyaluronidase 2, Cause a Syndrome of Orofacial Clefting and Cor Triatriatum Sinister in Humans and MiceMartina M A Muggenthaler, Biswajit Chowdhury, S Naimul Hasan, et al.
Scientific Reports|August 15, 2020
Diverse species-specific phenotypic consequences of loss of function sorting nexin 14 mutationsDale Bryant, Marian Seda, Emma Peskett, et al.
European Journal of Human Genetics : EJHG|September 15, 2017
Identification of causative variants in TXNL4A in Burn-McKeown syndrome and isolated choanal atresiaJacqueline A C Goos, Sigrid M A Swagemakers, Stephen R F Twigg, et al.
American Journal of Human Genetics|March 29, 2016
Sequencing the GRHL3 Coding Region Reveals Rare Truncating Mutations and a Common Susceptibility Variant for Nonsyndromic Cleft PalateElisabeth Mangold, Anne C Böhmer, Nina Ishorst, et al.
The Journal of Clinical Endocrinology and Metabolism|January 18, 2018
Genetic Analyses in Small-for-Gestational-Age NewbornsSusanne E Stalman, Nita Solanky, Miho Ishida, et al.
American Journal of Human Genetics|December 3, 2014
Mutations in SNX14 cause a distinctive autosomal-recessive cerebellar ataxia and intellectual disability syndromeAnna C Thomas, Hywel Williams, Núria Setó-Salvia, et al.
The EMBO Journal|May 17, 2018
Mice with endogenous TDP-43 mutations exhibit gain of splicing function and characteristics of amyotrophic lateral sclerosisPietro Fratta, Prasanth Sivakumar, Jack Humphrey, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 19, 2021
Inherited duplications of PPP2R3B predispose to nevi and melanoma via a C21orf91-driven proliferative phenotypeSatyamaanasa Polubothu, Davide Zecchin, Lara Al-Olabi, et al.
Pageof 7

Showing results (61-70 of 69) with videos related to

Sort By:
Pageof 7
You have reached the last page of results.This site can display upto 69 results.
Philosophical Transactions of the Royal Society of London. Series B, Biological Sciences|January 21, 2015
The role and interaction of imprinted genes in human fetal growthGudrun E Moore, Miho Ishida, Charalambos Demetriou, et al.
Plos Genetics|January 13, 2017
Mutations in HYAL2, Encoding Hyaluronidase 2, Cause a Syndrome of Orofacial Clefting and Cor Triatriatum Sinister in Humans and MiceMartina M A Muggenthaler, Biswajit Chowdhury, S Naimul Hasan, et al.
Scientific Reports|August 15, 2020
Diverse species-specific phenotypic consequences of loss of function sorting nexin 14 mutationsDale Bryant, Marian Seda, Emma Peskett, et al.
European Journal of Human Genetics : EJHG|September 15, 2017
Identification of causative variants in TXNL4A in Burn-McKeown syndrome and isolated choanal atresiaJacqueline A C Goos, Sigrid M A Swagemakers, Stephen R F Twigg, et al.
American Journal of Human Genetics|March 29, 2016
Sequencing the GRHL3 Coding Region Reveals Rare Truncating Mutations and a Common Susceptibility Variant for Nonsyndromic Cleft PalateElisabeth Mangold, Anne C Böhmer, Nina Ishorst, et al.
The Journal of Clinical Endocrinology and Metabolism|January 18, 2018
Genetic Analyses in Small-for-Gestational-Age NewbornsSusanne E Stalman, Nita Solanky, Miho Ishida, et al.
American Journal of Human Genetics|December 3, 2014
Mutations in SNX14 cause a distinctive autosomal-recessive cerebellar ataxia and intellectual disability syndromeAnna C Thomas, Hywel Williams, Núria Setó-Salvia, et al.
The EMBO Journal|May 17, 2018
Mice with endogenous TDP-43 mutations exhibit gain of splicing function and characteristics of amyotrophic lateral sclerosisPietro Fratta, Prasanth Sivakumar, Jack Humphrey, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 19, 2021
Inherited duplications of PPP2R3B predispose to nevi and melanoma via a C21orf91-driven proliferative phenotypeSatyamaanasa Polubothu, Davide Zecchin, Lara Al-Olabi, et al.
Pageof 7