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Ophthalmic Genetics
|
April 4, 2019
Clinical and molecular findings of FRMD7 related congenital nystagmus as adifferential diagnosis of ocular albinism
Vincent Michaud, Sabine Defoort-Dhellemmes, Isabelle Drumare, et al.
The Pan African Medical Journal
|
October 2, 2012
[Costello syndrome: report of a case]
Mariam Tajir, Patricia Fergelot, Gwenaelle Lancelot, et al.
European Journal of Medical Genetics
|
August 14, 2022
Co-occurrence of oculocutaneous albinism type 2 and mild sickle cell disease explained by HbS/βthal genotype in an individual from the Democratic Republic of Congo
Robert Aquaron, Eulalie Lasseaux, Joseph Kelekele, et al.
European Journal of Medical Genetics
|
December 27, 2011
1.5 Mb microdeletion in 15q24 in a patient with mild OAVS phenotype
Aurore Brun, Dorothée Cailley, Jérôme Toutain, et al.
Documenta Ophthalmologica. Advances in Ophthalmology
|
June 26, 2024
Crossed VEP asymmetry in a patient with AHR-linked infantile nystagmus and foveal hypoplasia
Vasily M Smirnov, Eulalie Lasseaux, Vincent Michaud, et al.
Applied Microbiology and Biotechnology
|
August 17, 2006
Intraspecific diversity of Oenococcus oeni strains determined by sequence analysis of target genes
Arnaud Delaherche, Elisabeth Bon, Aurelien Dupé, et al.
European Journal of Medical Genetics
|
March 5, 2013
Prenatal diagnosis using array-CGH: a French experience
Caroline Rooryck, Jérôme Toutain, Dorothée Cailley, et al.
European Journal of Medical Genetics
|
March 5, 2021
CHN1 and duane retraction syndrome: Expanding the phenotype to cranial nerves development disease
Chloé Angelini, Aurélien Trimouille, Benoit Arveiler, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society
|
December 23, 2014
SCA27 is a cause of early-onset ataxia and developmental delay
Marc Planes, Caroline Rooryck, Marie-Laure Vuillaume, et al.
Presse Medicale (Paris, France : 1983)
|
June 6, 2026
Dyadic adjustment and quality of life in albinism:a pilot study on their shared lived experiences with their loved ones
Hugo Fournier, Nicolas Pillaud, Marie Hasdenteufel, et al.
Page
of 9
Search research articles
Search
Showing results (11-20 of 82) with videos related to
Sort By:
Page
of 9
Ophthalmic Genetics
|
April 4, 2019
Clinical and molecular findings of FRMD7 related congenital nystagmus as adifferential diagnosis of ocular albinism
Vincent Michaud, Sabine Defoort-Dhellemmes, Isabelle Drumare, et al.
The Pan African Medical Journal
|
October 2, 2012
[Costello syndrome: report of a case]
Mariam Tajir, Patricia Fergelot, Gwenaelle Lancelot, et al.
European Journal of Medical Genetics
|
August 14, 2022
Co-occurrence of oculocutaneous albinism type 2 and mild sickle cell disease explained by HbS/βthal genotype in an individual from the Democratic Republic of Congo
Robert Aquaron, Eulalie Lasseaux, Joseph Kelekele, et al.
European Journal of Medical Genetics
|
December 27, 2011
1.5 Mb microdeletion in 15q24 in a patient with mild OAVS phenotype
Aurore Brun, Dorothée Cailley, Jérôme Toutain, et al.
Documenta Ophthalmologica. Advances in Ophthalmology
|
June 26, 2024
Crossed VEP asymmetry in a patient with AHR-linked infantile nystagmus and foveal hypoplasia
Vasily M Smirnov, Eulalie Lasseaux, Vincent Michaud, et al.
Applied Microbiology and Biotechnology
|
August 17, 2006
Intraspecific diversity of Oenococcus oeni strains determined by sequence analysis of target genes
Arnaud Delaherche, Elisabeth Bon, Aurelien Dupé, et al.
European Journal of Medical Genetics
|
March 5, 2013
Prenatal diagnosis using array-CGH: a French experience
Caroline Rooryck, Jérôme Toutain, Dorothée Cailley, et al.
European Journal of Medical Genetics
|
March 5, 2021
CHN1 and duane retraction syndrome: Expanding the phenotype to cranial nerves development disease
Chloé Angelini, Aurélien Trimouille, Benoit Arveiler, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society
|
December 23, 2014
SCA27 is a cause of early-onset ataxia and developmental delay
Marc Planes, Caroline Rooryck, Marie-Laure Vuillaume, et al.
Presse Medicale (Paris, France : 1983)
|
June 6, 2026
Dyadic adjustment and quality of life in albinism:a pilot study on their shared lived experiences with their loved ones
Hugo Fournier, Nicolas Pillaud, Marie Hasdenteufel, et al.
Page
of 9