Detalhe da pesquisa
1.
The Monarch Initiative in 2019: an integrative data and analytic platform connecting phenotypes to genotypes across species.
Nucleic Acids Res
; 48(D1): D704-D715, 2020 01 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-31701156
2.
Expansion of the Human Phenotype Ontology (HPO) knowledge base and resources.
Nucleic Acids Res
; 47(D1): D1018-D1027, 2019 01 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-30476213
3.
Clinical features and management issues in Mowat-Wilson syndrome.
Am J Med Genet A
; 140(24): 2730-41, 2006 Dec 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-17103451
4.
Auriculo-condylar syndrome is associated with highly variable ear and mandibular defects in multiple kindreds.
Am J Med Genet A
; 138A(2): 141-5, 2005 Oct 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-16114046
5.
Identification of a novel polymorphism--the duplication of the NPHP1 (nephronophthisis 1) gene.
Am J Med Genet A
; 140A(17): 1876-9, 2006 Sep 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-16892302