Results 61 to 70 of about 578 (106)
Localisation of a 10q breakpoint within the PAX2 gene in a patient with a de novo t(10;13) translocation and optic nerve coloboma-renal disease. [PDF]
J Med Genet, 1997 Narahara K +8 more
europepmc +1 more source
Ocular colobomata, cardiac defect, and other anomalies: a study of seven cases including two sibs. [PDF]
J Med Genet, 1975 Ho CK, Kaufman RL, Podos SM.
europepmc +1 more source
Pedigrees with diabetes insipidus, diabetes mellitus, and optic atrophy. [PDF]
J Med Genet, 1972 Sunder JH +6 more
europepmc +1 more source
Abstracts from the 53rd European Society of Human Genetics (ESHG) Conference: Interactive e-Posters. [PDF]
Eur J Hum Genet, 2020 europepmc +1 more source
Screening mutacional en pacientes con hipoacusia [PDF]
INTRODUCCIÓN La hipoacusia en humanos puede ser debida a factores ambientales (20%-40%) o ser de causa genética (60%-80%). Dentro de ellas, el 20% son sindrómicas y el 80% no están asociadas a otros síntomas.
García Díaz, Piedad
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Incidencia de la Sordera-Hipoacusia Congenita a traves del Tamiz Auditivo Neonatal en el periodo comprendido entre 1 julio 2010 al 30 junio 2011 en el Hospital General de Atizapan [PDF]
, 2013 Ramírez Aranda, Jose Pablo +1 more
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Genetical aspects of severe visual impairment in childhood. [PDF]
J Med Genet, 1970 Fraser GR.
europepmc +1 more source