Results 51 to 60 of about 733 (83)

Genodermatosis [PDF]

open access: yes, 1962
Piñol Aguadé, Joaquim
core  
Some of the next articles are maybe not open access.

Albinismo ocular con mutación en GPR143: hallazgos en autofluorescencia de campo amplio y tomografía de coherencia óptica

Archivos de la Sociedad Española de Oftalmología, 2019
Resumen Varon de 12 anos que consulta por nistagmo y vision baja desde el nacimiento. Su madre tambien consulta por vision baja de ojo derecho desde pequena que empeoro ultimamente. El examen fisico no revelo alteraciones en la pigmentacion de piel y cabello.
M.J. Montoya Delgado   +4 more
openaire   +1 more source

Sulle Anomalie Pigmentarie dell'occhio dette « Albinismo Oculare » ed ancora sopra il caso delle gemelle monozigotiche albine descritte da Hanhart

Acta geneticae medicae et gemellologiae, 1961
SUMMARYThe Authors have studied a pair of MZ twins, both affected with ocular albinism, two boys—probably consanguineous—also affected with ocular albinism, a DZ opposite—sexed twin—pair with the male twin affected with ocular albinism and many relatives affected with localized or generalized pigment anomalies, and the female MZ twin-pair concordant as
L. Gedda, S. Bérard-Magistretti
openaire   +1 more source

Paracinesia adduttorio-enoftalmica gemello-familiare e albinismo oculare in altra famiglia

Acta geneticae medicae et gemellologiae, 1956
SUMMARYThe Authors have studied from the genetical point of view two family cases, mainly ophthalmological, with the following relevant findings:Case 1) Proposita: female MZ twin, aged 13, suffering from facial paralysis on the left, with acute onset and persisting after two years, accompanied by the phenomenon of “Crocodile tears”.
Luigi Gedda, Sandra Magistretti
openaire   +1 more source

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