Detalhe da pesquisa
1.
Molecular characterization of Spanish patients with MECP2 duplication syndrome.
Clin Genet
; 97(4): 610-620, 2020 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-32043567
2.
A 11.7-Mb Paracentric Inversion in Chromosome 1q Detected in Prenatal Diagnosis Associated with Familial Intellectual Disability.
Cytogenet Genome Res
; 146(2): 109-14, 2015.
Artigo
em Inglês
| MEDLINE | ID: mdl-26280689
3.
Trisomy 18p caused by a supernumerary marker with a chromosome 13/21 centromere: a possible recurrent chromosome aberration.
Am J Med Genet A
; 161A(9): 2363-8, 2013 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-23894094
4.
5.
Non-mosaic trisomy 20 of paternal origin in chorionic villus and amniotic fluid also detected in fetal blood and other tissues.
Eur J Med Genet
; 53(4): 197-200, 2010.
Artigo
em Inglês
| MEDLINE | ID: mdl-20350623
6.
Phylloid hypomelanosis and mosaic partial trisomy 13: two cases that provide further evidence of a distinct clinicogenetic entity.
Arch Dermatol
; 145(5): 576-8, 2009 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-19451503