Detalhe da pesquisa
1.
Mutations in EXTL3 Cause Neuro-immuno-skeletal Dysplasia Syndrome.
Am J Hum Genet
; 100(2): 281-296, 2017 02 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-28132690
2.
Mutations in linker for activation of T cells (LAT) lead to a novel form of severe combined immunodeficiency.
J Allergy Clin Immunol
; 139(2): 634-642.e5, 2017 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-27522155
3.
Nephrocystin-5, a ciliary IQ domain protein, is mutated in Senior-Loken syndrome and interacts with RPGR and calmodulin.
Nat Genet
; 37(3): 282-8, 2005 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-15723066
4.
Germline selection shapes human mitochondrial DNA diversity.
Science
; 364(6442)2019 05 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-31123110
5.
Phenotypic and Genotypic Characterisation of Inflammatory Bowel Disease Presenting Before the Age of 2 years.
J Crohns Colitis
; 11(1): 60-69, 2017 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-27302973
6.
Genetic and clinical characterization of Pakistani families with Bardet-Biedl syndrome extends the genetic and phenotypic spectrum.
Sci Rep
; 6: 34764, 2016 10 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-27708425
7.
Cilia - the prodigal organelle.
Cilia
; 1(1): 1, 2012 Apr 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-23351984
8.
The ciliopathies: an emerging class of human genetic disorders.
Annu Rev Genomics Hum Genet
; 7: 125-48, 2006.
Artigo
em Inglês
| MEDLINE | ID: mdl-16722803