Hereditary Optic Neuropathies: An Updated Review.

Autor: Lee, Samuel K.^1,2 (AUTHOR), Mura, Caroline¹ (AUTHOR), Abreu, Nicolas J.¹ (AUTHOR), Rucker, Janet C.^1,2 (AUTHOR), Galetta, Steven L.^1,2 (AUTHOR), Balcer, Laura J.^1,2,3 (AUTHOR), Grossman, Scott N.^1,2 (AUTHOR) scott.grossman@nyulangone.org

Publikováno v: Journal of Clinical & Translational Ophthalmology. Sep2024, Vol. 2 Issue 3, p64-78. 15p.

Nonsense passage reading as a diagnostic aid in the study of adult familial dyslexia.

Autor: Gross-Glenn, K., Jallad, Bonnie, Novoa, Loriana, Helgren-Lempesis, Valerie, Lubs, H.

Publikováno v: Reading & Writing; Jun1990, Vol. 2 Issue 2, p161-173, 13p

A new gene (DYX3) for dyslexia is located on chromosome 2

Autor: Fagerheim, T., Raeymaekers, P., Tonnessen, F. E., Pedersen, M., Tranebjarg, L., Lubs, H.

Publikováno v: Journal of medical genetics

Developmental dyslexia is a specific reading disability affecting children and adults who otherwise possess normal intelligence, cognitive skills, and adequate schooling. Difficulties in spelling and reading may persist through adult life. Possible l

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::7de047694f8bd0a197ce8562b9cc201c
https://hdl.handle.net/10067/996130151162165141

Age- and Gender-Specific Prevalence of Intellectually Disabled Population in India.

Autor: Kapoor, Mudit¹, Ambade, Mayanka², Ravi, Shamika³ shamika.ravi@orfonline.org, Subramanian, S. V.^4,5 svsubram@hsph.harvard.edu

Publikováno v: Journal of Autism & Developmental Disorders. Apr2024, Vol. 54 Issue 4, p1594-1604. 11p.

Investigations of an individual with a Marfanoid habitus, mild intellectual disability, and severe social anxiety identifies PCDHGA5 as a candidate neurodevelopmental disorder gene.

Autor: Margot H; Univ. Bordeaux, MRGM INSERM U1211, CHU de Bordeaux, Service de Génétique Médicale, Bordeaux, France., Pizano A; Aquitaine Autism Resources Centre, Centre Hospitalier Charles-Perrens, University Pole of Child and Adolescent Psychiatry, Bordeaux, France., Amestoy A; Aquitaine Autism Resources Centre, Centre Hospitalier Charles-Perrens, University Pole of Child and Adolescent Psychiatry, Bordeaux, France., Lacombe D; Univ. Bordeaux, MRGM INSERM U1211, CHU de Bordeaux, Service de Génétique Médicale, Bordeaux, France., Berges C; Univ. Bordeaux, MRGM INSERM U1211, CHU de Bordeaux, Service de Génétique Médicale, Bordeaux, France., Beneteau C; Univ. Bordeaux, MRGM INSERM U1211, CHU de Bordeaux, Service de Génétique Médicale, Bordeaux, France., Innes AM; Department of Medical Genetics and Pediatrics and Alberta Children's Hospital Research Institute, University of Calgary, Calgary, Canada.

Publikováno v: American journal of medical genetics. Part C, Seminars in medical genetics [Am J Med Genet C Semin Med Genet] 2024 Apr 09, pp. e32087. Date of Electronic Publication: 2024 Apr 09.