Detalhe da pesquisa
1.
Defective DNA Polymerase α-Primase Leads to X-Linked Intellectual Disability Associated with Severe Growth Retardation, Microcephaly, and Hypogonadism.
Am J Hum Genet
; 104(5): 957-967, 2019 05 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-31006512
2.
FAF1, a gene that is disrupted in cleft palate and has conserved function in zebrafish.
Am J Hum Genet
; 88(2): 150-61, 2011 Feb 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-21295280
3.
SCAMP5, NBEA and AMISYN: three candidate genes for autism involved in secretion of large dense-core vesicles.
Hum Mol Genet
; 19(7): 1368-78, 2010 Apr 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-20071347
4.
Haploinsufficiency of the gene Quaking (QKI) is associated with the 6q terminal deletion syndrome.
Am J Med Genet A
; 152A(2): 319-26, 2010 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-20082458
5.
Chromosome 5 derived small supernumerary marker: towards a genotype/phenotype correlation of proximal chromosome 5 imbalances.
J Appl Genet
; 52(2): 193-200, 2011 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-21437654
6.
PPP2R2C, a gene disrupted in autosomal dominant intellectual disability.
Eur J Med Genet
; 53(5): 239-43, 2010.
Artigo
em Inglês
| MEDLINE | ID: mdl-20601260
7.
Congenital diaphragmatic hernia is part of the new 15q24 microdeletion syndrome.
Eur J Med Genet
; 52(2-3): 153-6, 2009.
Artigo
em Inglês
| MEDLINE | ID: mdl-19233321
8.
Early myoclonic encephalopathy caused by a disruption of the neuregulin-1 receptor ErbB4.
Eur J Hum Genet
; 17(3): 378-82, 2009 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-18854870
9.
Molecular cytogenetic characterisation of a mosaic add(12)(p13.3) with an inv dup(3)(q26.31 --> qter) detected in an autistic boy.
Mol Cytogenet
; 2: 16, 2009 Aug 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-19653912
10.
Direct fluorescent labelling of clones by DOP PCR.
Mol Cytogenet
; 1: 3, 2008 Mar 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-18471308