Detalhe da pesquisa
1.
Clinical features for diagnosis and management of patients with PRDM12 congenital insensitivity to pain.
J Med Genet
; 53(8): 533-5, 2016 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-26975306
2.
The transmembrane protein meckelin (MKS3) is mutated in Meckel-Gruber syndrome and the wpk rat.
Nat Genet
; 38(2): 191-6, 2006 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-16415887
3.
Founder mutations and genotype-phenotype correlations in Meckel-Gruber syndrome and associated ciliopathies.
Cilia
; 1(1): 18, 2012 Oct 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-23351400
4.
Quantification of homozygosity in consanguineous individuals with autosomal recessive disease.
Am J Hum Genet
; 78(5): 889-896, 2006 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-16642444