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1.
Constitutional haploinsufficiency of tumor suppressor genes in mentally retarded patients with microdeletions in 17p13.1.
Cytogenet Genome Res;
125(1): 1-7, 2009.
Artículo
en Inglés
| MEDLINE | ID: mdl-19617690
2.
Genomic imbalances associated with mullerian aplasia.
J Med Genet;
45(4): 228-32, 2008 Apr.
Artículo
en Inglés
| MEDLINE | ID: mdl-18039948
3.
High frequency of submicroscopic chromosomal imbalances in patients with syndromic craniosynostosis detected by a combined approach of microsatellite segregation analysis, multiplex ligation-dependent probe amplification and array-based comparative genome hybridisation.
J Med Genet;
45(7): 447-50, 2008 Jul.
Artículo
en Inglés
| MEDLINE | ID: mdl-18456720
4.
Array-CGH detection of micro rearrangements in mentally retarded individuals: clinical significance of imbalances present both in affected children and normal parents.
J Med Genet;
43(2): 180-6, 2006 Feb.
Artículo
en Inglés
| MEDLINE | ID: mdl-15980116
5.
A 17q21.31 microdeletion encompassing the MAPT gene in a mentally impaired patient.
Cytogenet Genome Res;
114(1): 89-92, 2006.
Artículo
en Inglés
| MEDLINE | ID: mdl-16717456
6.
Whole-genome array-CGH screening in undiagnosed syndromic patients: old syndromes revisited and new alterations.
Cytogenet Genome Res;
115(3-4): 254-61, 2006.
Artículo
en Inglés
| MEDLINE | ID: mdl-17124408
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