Detalhe da pesquisa
1.
Phenotypic spectrum associated with PTCHD1 deletions and truncating mutations includes intellectual disability and autism spectrum disorder.
Clin Genet
; 88(3): 224-33, 2015 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-25131214
2.
Congenital heart defects in Canadian Inuit: is more folic acid making a difference?
Alaska Med
; 49(2 Suppl): 163-6, 2007.
Artigo
em Inglês
| MEDLINE | ID: mdl-17929627
3.
Phenotypic and molecular characterization of a novel DCX deletion and a review of the literature.
Clin Genet
; 76(2): 214-8, 2009 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-19673952
4.
Recurrent trisomy 21 in a couple with a child presenting trisomy 21 mosaicism and maternal uniparental disomy for chromosome 21 in the euploid cell line.
Am J Med Genet
; 94(1): 35-41, 2000 Sep 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-10982480
5.
Skeletal and cardiac malformations with thrombocytopenia: a new syndrome?
Am J Med Genet
; 64(3): 497-500, 1996 Aug 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-8862629
6.
Renal-coloboma syndrome: prenatal detection and clinical spectrum in a large family.
Am J Med Genet
; 99(2): 137-41, 2001 Mar 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-11241473
7.
Recurrent trisomy 21: four cases in three generations.
Clin Genet
; 68(5): 430-5, 2005 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-16207210
8.
Cloning, sequencing, and viscometric adhesion analysis of heat-resistant agglutinin 1, an integral membrane hemagglutinin from Escherichia coli O9:H10:K99.
Infect Immun
; 62(11): 5020-6, 1994 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-7927783
9.
Increased permeability of lymphatic trunks draining granulomas.
J Reticuloendothel Soc
; 28(3): 295-303, 1980 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-7411542
10.
[Early development of schizophrenic patients. An anamnestic study (author's transl)]. / Die frühkindliche Anamnese der Schizophrenen.
Nervenarzt
; 50(11): 719-24, 1979 Nov.
Artigo
em Alemão
| MEDLINE | ID: mdl-575405