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Elizabeth Sweeney

Showing results (41-50 of 59) with videos related to

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American Journal of Medical Genetics. Part A|February 9, 2012
Phenotypic variability in hyperphosphatasia with seizures and neurologic deficit (Mabry syndrome)Miles D Thompson, Tony Roscioli, Carlo Marcelis, et al.
Human Molecular Genetics|April 4, 2017
Localized TWIST1 and TWIST2 basic domain substitutions cause four distinct human diseases that can be modeled in Caenorhabditis elegansSharon Kim, Stephen R F Twigg, Victoria A Scanlon, et al.
Human Mutation|June 6, 2006
Mutations in two regions of FLNB result in atelosteogenesis I and IIIClaire Farrington-Rock, Marc H Firestein, Louise S Bicknell, 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.
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 Human Genetics|November 15, 2011
Whole-exome-sequencing identifies mutations in histone acetyltransferase gene KAT6B in individuals with the Say-Barber-Biesecker variant of Ohdo syndromeJill Clayton-Smith, James O'Sullivan, Sarah Daly, et al.
American Journal of Medical Genetics. Part A|May 3, 2008
Clinical and cytogenetic characterization of 13 Dutch patients with deletion 9p syndrome: Delineation of the critical region for a consensus phenotypeMariëlle E M Swinkels, Annet Simons, Dominique F Smeets, et al.
Journal of Medical Genetics|June 28, 2006
A molecular and clinical study of Larsen syndrome caused by mutations in FLNBLouise S Bicknell, Claire Farrington-Rock, Yousef Shafeghati, 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.
Blood|July 20, 2006
Molecular and clinical spectrum of type I plasminogen deficiency: A series of 50 patientsKatrin Tefs, Maria Gueorguieva, Jürgen Klammt, et al.
Pageof 6

Showing results (41-50 of 59) with videos related to

Sort By:
Pageof 6
American Journal of Medical Genetics. Part A|February 9, 2012
Phenotypic variability in hyperphosphatasia with seizures and neurologic deficit (Mabry syndrome)Miles D Thompson, Tony Roscioli, Carlo Marcelis, et al.
Human Molecular Genetics|April 4, 2017
Localized TWIST1 and TWIST2 basic domain substitutions cause four distinct human diseases that can be modeled in Caenorhabditis elegansSharon Kim, Stephen R F Twigg, Victoria A Scanlon, et al.
Human Mutation|June 6, 2006
Mutations in two regions of FLNB result in atelosteogenesis I and IIIClaire Farrington-Rock, Marc H Firestein, Louise S Bicknell, 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.
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 Human Genetics|November 15, 2011
Whole-exome-sequencing identifies mutations in histone acetyltransferase gene KAT6B in individuals with the Say-Barber-Biesecker variant of Ohdo syndromeJill Clayton-Smith, James O'Sullivan, Sarah Daly, et al.
American Journal of Medical Genetics. Part A|May 3, 2008
Clinical and cytogenetic characterization of 13 Dutch patients with deletion 9p syndrome: Delineation of the critical region for a consensus phenotypeMariëlle E M Swinkels, Annet Simons, Dominique F Smeets, et al.
Journal of Medical Genetics|June 28, 2006
A molecular and clinical study of Larsen syndrome caused by mutations in FLNBLouise S Bicknell, Claire Farrington-Rock, Yousef Shafeghati, 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.
Blood|July 20, 2006
Molecular and clinical spectrum of type I plasminogen deficiency: A series of 50 patientsKatrin Tefs, Maria Gueorguieva, Jürgen Klammt, et al.
Pageof 6