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1.
Two new cases with microdeletion of 17q23.2 suggest presence of a candidate gene for sensorineural hearing loss within this region.
Am J Med Genet A
; 155A(12): 2964-9, 2011 Dec.
Artículo
en Inglés
| MEDLINE | ID: mdl-22052739
2.
Subtelomeric study of 132 patients with mental retardation reveals 9 chromosomal anomalies and contributes to the delineation of submicroscopic deletions of 1pter, 2qter, 4pter, 5qter and 9qter.
BMC Med Genet
; 6: 21, 2005 May 17.
Artículo
en Inglés
| MEDLINE | ID: mdl-15904506
3.
11p Microdeletion including WT1 but not PAX6, presenting with cataract, mental retardation, genital abnormalities and seizures: a case report.
Mol Cytogenet
; 2: 6, 2009 Feb 17.
Artículo
en Inglés
| MEDLINE | ID: mdl-19222835
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