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I A Aligianis

Showing results (1-10 of 7) with videos related to

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Genetic Counseling (Geneva, Switzerland)|February 22, 2008
Phenotypic variability in Micro syndrome: report of new casesG M H Abdel-Salam, N A Hassan, H F Kayed, et al.
Journal of Inherited Metabolic Disease|January 31, 2003
Prenatal diagnosis of succinate semialdehyde dehydrogenase deficiency in non-identical twinsI A Aligianis, P A Farndon, R G F Gray, et al.
Lancet (London, England)|April 27, 2001
Germline SDHD mutation in familial phaeochromocytomaD Astuti, F Douglas, T W Lennard, et al.
Journal of Medical Genetics|February 6, 2004
Achromatopsia caused by novel mutations in both CNGA3 and CNGB3S Johnson, M Michaelides, I A Aligianis, et al.
The British Journal of Ophthalmology|November 12, 2003
Cone dystrophy phenotype associated with a frameshift mutation (M280fsX291) in the alpha-subunit of cone specific transducin (GNAT2)M Michaelides, I A Aligianis, G E Holder, et al.
Archives of Disease in Childhood|May 27, 2003
22q11 deletion: a multisystem disorder requiring multidisciplinary inputK L Greenhalgh, I A Aligianis, G Bromilow, et al.
Journal of Medical Genetics|September 3, 2002
Mapping of a novel locus for achromatopsia (ACHM4) to 1p and identification of a germline mutation in the alpha subunit of cone transducin (GNAT2)I A Aligianis, T Forshew, S Johnson, et al.
Pageof 1

Showing results (1-10 of 7) with videos related to

Sort By:
Pageof 1
Genetic Counseling (Geneva, Switzerland)|February 22, 2008
Phenotypic variability in Micro syndrome: report of new casesG M H Abdel-Salam, N A Hassan, H F Kayed, et al.
Journal of Inherited Metabolic Disease|January 31, 2003
Prenatal diagnosis of succinate semialdehyde dehydrogenase deficiency in non-identical twinsI A Aligianis, P A Farndon, R G F Gray, et al.
Lancet (London, England)|April 27, 2001
Germline SDHD mutation in familial phaeochromocytomaD Astuti, F Douglas, T W Lennard, et al.
Journal of Medical Genetics|February 6, 2004
Achromatopsia caused by novel mutations in both CNGA3 and CNGB3S Johnson, M Michaelides, I A Aligianis, et al.
The British Journal of Ophthalmology|November 12, 2003
Cone dystrophy phenotype associated with a frameshift mutation (M280fsX291) in the alpha-subunit of cone specific transducin (GNAT2)M Michaelides, I A Aligianis, G E Holder, et al.
Archives of Disease in Childhood|May 27, 2003
22q11 deletion: a multisystem disorder requiring multidisciplinary inputK L Greenhalgh, I A Aligianis, G Bromilow, et al.
Journal of Medical Genetics|September 3, 2002
Mapping of a novel locus for achromatopsia (ACHM4) to 1p and identification of a germline mutation in the alpha subunit of cone transducin (GNAT2)I A Aligianis, T Forshew, S Johnson, et al.
Pageof 1