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Steven A Wall

Showing results (51-60 of 72) with videos related to

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American Journal of Human Genetics|July 12, 2011
Inactivation of IL11 signaling causes craniosynostosis, delayed tooth eruption, and supernumerary teethPekka Nieminen, Neil V Morgan, Aimée L Fenwick, et al.
American Journal of Human Genetics|May 16, 2007
RAB23 mutations in Carpenter syndrome imply an unexpected role for hedgehog signaling in cranial-suture development and obesityDagan Jenkins, Dominik Seelow, Fernanda S Jehee, et al.
Bone Research|June 23, 2020
A variant in <i>IL6ST</i> with a selective IL-11 signaling defect in human and mouseTobias Schwerd, Freia Krause, Stephen R F Twigg, et al.
American Journal of Human Genetics|May 11, 2006
The origin of EFNB1 mutations in craniofrontonasal syndrome: frequent somatic mosaicism and explanation of the paucity of carrier malesStephen R F Twigg, Kazuya Matsumoto, Alexa M J Kidd, et al.
American Journal of Medical Genetics. Part A|February 14, 2019
ERF-related craniosynostosis: The phenotypic and developmental profile of a new craniosynostosis syndromeGraeme E Glass, Justine O'Hara, Natalie Canham, et al.
Human Mutation|May 10, 2016
Identification of Intragenic Exon Deletions and Duplication of TCF12 by Whole Genome or Targeted Sequencing as a Cause of TCF12-Related CraniosynostosisJacqueline A C Goos, Aimee L Fenwick, Sigrid M A Swagemakers, et al.
Plastic and Reconstructive Surgery|January 30, 2024
A European Multicenter Outcome Study of Perioperative Airway Management Policies following Midface Surgery in Syndromic CraniosynostosisIris E Cuperus, Irene M J Mathijssen, Marie-Lise C van Veelen, et al.
American Journal of Human Genetics|September 5, 2015
Gain-of-Function Mutations in ZIC1 Are Associated with Coronal Craniosynostosis and Learning DisabilityStephen R F Twigg, Jennifer Forecki, Jacqueline A C Goos, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 9, 2020
Correction: SMAD6 variants in craniosynostosis: genotype and phenotype evaluationEduardo Calpena, Araceli Cuellar, Krithi Bala, et al.
The Journal of Experimental Medicine|July 28, 2017
A biallelic mutation in <i>IL6ST</i> encoding the GP130 co-receptor causes immunodeficiency and craniosynostosisTobias Schwerd, Stephen R F Twigg, Dominik Aschenbrenner, et al.
Pageof 8

Showing results (51-60 of 72) with videos related to

Sort By:
Pageof 8
American Journal of Human Genetics|July 12, 2011
Inactivation of IL11 signaling causes craniosynostosis, delayed tooth eruption, and supernumerary teethPekka Nieminen, Neil V Morgan, Aimée L Fenwick, et al.
American Journal of Human Genetics|May 16, 2007
RAB23 mutations in Carpenter syndrome imply an unexpected role for hedgehog signaling in cranial-suture development and obesityDagan Jenkins, Dominik Seelow, Fernanda S Jehee, et al.
Bone Research|June 23, 2020
A variant in <i>IL6ST</i> with a selective IL-11 signaling defect in human and mouseTobias Schwerd, Freia Krause, Stephen R F Twigg, et al.
American Journal of Human Genetics|May 11, 2006
The origin of EFNB1 mutations in craniofrontonasal syndrome: frequent somatic mosaicism and explanation of the paucity of carrier malesStephen R F Twigg, Kazuya Matsumoto, Alexa M J Kidd, et al.
American Journal of Medical Genetics. Part A|February 14, 2019
ERF-related craniosynostosis: The phenotypic and developmental profile of a new craniosynostosis syndromeGraeme E Glass, Justine O'Hara, Natalie Canham, et al.
Human Mutation|May 10, 2016
Identification of Intragenic Exon Deletions and Duplication of TCF12 by Whole Genome or Targeted Sequencing as a Cause of TCF12-Related CraniosynostosisJacqueline A C Goos, Aimee L Fenwick, Sigrid M A Swagemakers, et al.
Plastic and Reconstructive Surgery|January 30, 2024
A European Multicenter Outcome Study of Perioperative Airway Management Policies following Midface Surgery in Syndromic CraniosynostosisIris E Cuperus, Irene M J Mathijssen, Marie-Lise C van Veelen, et al.
American Journal of Human Genetics|September 5, 2015
Gain-of-Function Mutations in ZIC1 Are Associated with Coronal Craniosynostosis and Learning DisabilityStephen R F Twigg, Jennifer Forecki, Jacqueline A C Goos, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 9, 2020
Correction: SMAD6 variants in craniosynostosis: genotype and phenotype evaluationEduardo Calpena, Araceli Cuellar, Krithi Bala, et al.
The Journal of Experimental Medicine|July 28, 2017
A biallelic mutation in <i>IL6ST</i> encoding the GP130 co-receptor causes immunodeficiency and craniosynostosisTobias Schwerd, Stephen R F Twigg, Dominik Aschenbrenner, et al.
Pageof 8