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Ophthalmology
|
September 8, 2004
Lacrimal outflow dysgenesis
Sonia J Ahn Yuen, Christine Oley, Timothy J Sullivan
Clinical & Experimental Ophthalmology
|
March 22, 2003
Blepharophimosis: a recommendation for early surgery in patients with severe ptosis
Peter S Beckingsale, Timothy J Sullivan, Vincent A Wong, et al.
Human Molecular Genetics
|
March 1, 2012
An N-terminal G11A mutation in HOXD13 causes synpolydactyly and interferes with Gli3R function during limb pre-patterning
Nathalie Brison, Philippe Debeer, Sebastian Fantini, et al.
European Journal of Pediatrics
|
May 8, 2008
Clinical and radiological findings in Schinzel-Giedion syndrome
Mudaffer Al-Mudaffer, Christine Oley, Sue Price, et al.
American Journal of Medical Genetics. Part A
|
January 17, 2013
Striking intrafamilial phenotypic variability in Aicardi-Goutières syndrome associated with the recurrent Asian founder mutation in RNASEH2C
Julie Vogt, Shakti Agrawal, Zala Ibrahim, et al.
Human Mutation
|
March 18, 2011
Carpenter syndrome: extended RAB23 mutation spectrum and analysis of nonsense-mediated mRNA decay
Dagan Jenkins, Gareth Baynam, Luc De Catte, et al.
Human Reproduction (Oxford, England)
|
December 17, 2008
Clinical and molecular genetic features of Beckwith-Wiedemann syndrome associated with assisted reproductive technologies
Derek Lim, Sarah C Bowdin, Louise Tee, et al.
American Journal of Human Genetics
|
July 11, 2006
Mutations in the embryonal subunit of the acetylcholine receptor (CHRNG) cause lethal and Escobar variants of multiple pterygium syndrome
Neil V Morgan, Louise A Brueton, Phillip Cox, et al.
Human Mutation
|
October 31, 2009
OBSL1 mutations in 3-M syndrome are associated with a modulation of IGFBP2 and IGFBP5 expression levels
Celine Huber, Mélanie Fradin, Thomas Edouard, et al.
American Journal of Human Genetics
|
January 17, 2003
FOXL2 and BPES: mutational hotspots, phenotypic variability, and revision of the genotype-phenotype correlation
Elfride De Baere, Diane Beysen, Christine Oley, et al.
Page
of 2
Search research articles
Search
Showing results (1-10 of 12) with videos related to
Sort By:
Page
of 2
Ophthalmology
|
September 8, 2004
Lacrimal outflow dysgenesis
Sonia J Ahn Yuen, Christine Oley, Timothy J Sullivan
Clinical & Experimental Ophthalmology
|
March 22, 2003
Blepharophimosis: a recommendation for early surgery in patients with severe ptosis
Peter S Beckingsale, Timothy J Sullivan, Vincent A Wong, et al.
Human Molecular Genetics
|
March 1, 2012
An N-terminal G11A mutation in HOXD13 causes synpolydactyly and interferes with Gli3R function during limb pre-patterning
Nathalie Brison, Philippe Debeer, Sebastian Fantini, et al.
European Journal of Pediatrics
|
May 8, 2008
Clinical and radiological findings in Schinzel-Giedion syndrome
Mudaffer Al-Mudaffer, Christine Oley, Sue Price, et al.
American Journal of Medical Genetics. Part A
|
January 17, 2013
Striking intrafamilial phenotypic variability in Aicardi-Goutières syndrome associated with the recurrent Asian founder mutation in RNASEH2C
Julie Vogt, Shakti Agrawal, Zala Ibrahim, et al.
Human Mutation
|
March 18, 2011
Carpenter syndrome: extended RAB23 mutation spectrum and analysis of nonsense-mediated mRNA decay
Dagan Jenkins, Gareth Baynam, Luc De Catte, et al.
Human Reproduction (Oxford, England)
|
December 17, 2008
Clinical and molecular genetic features of Beckwith-Wiedemann syndrome associated with assisted reproductive technologies
Derek Lim, Sarah C Bowdin, Louise Tee, et al.
American Journal of Human Genetics
|
July 11, 2006
Mutations in the embryonal subunit of the acetylcholine receptor (CHRNG) cause lethal and Escobar variants of multiple pterygium syndrome
Neil V Morgan, Louise A Brueton, Phillip Cox, et al.
Human Mutation
|
October 31, 2009
OBSL1 mutations in 3-M syndrome are associated with a modulation of IGFBP2 and IGFBP5 expression levels
Celine Huber, Mélanie Fradin, Thomas Edouard, et al.
American Journal of Human Genetics
|
January 17, 2003
FOXL2 and BPES: mutational hotspots, phenotypic variability, and revision of the genotype-phenotype correlation
Elfride De Baere, Diane Beysen, Christine Oley, et al.
Page
of 2