Detalhe da pesquisa
1.
Human inherited CCR2 deficiency underlies progressive polycystic lung disease.
Cell;
187(2): 390-408.e23, 2024 01 18.
Artigo
em Inglês
| MEDLINE
| ID: mdl-38157855
2.
Mutations in the VPS13B Gene in Iranian Patients with Different Phenotypes of Cohen Syndrome.
J Mol Neurosci;
70(1): 21-25, 2020 Jan.
Artigo
em Inglês
| MEDLINE
| ID: mdl-31444703
3.
ELMO Domain Containing 1 (ELMOD1) Gene Mutation Is Associated with Mental Retardation and Autism Spectrum Disorder.
J Mol Neurosci;
69(2): 312-315, 2019 Oct.
Artigo
em Inglês
| MEDLINE
| ID: mdl-31327155
4.
A Novel Nonsense Mutation in PANK2 Gene in Two Patients with Pantothenate Kinase-Associated Neurodegeneration.
Int J Mol Cell Med;
5(4): 255-259, 2016.
Artigo
em Inglês
| MEDLINE
| ID: mdl-28357202
5.
A Novel Splice Site Mutation in HPS1 Gene is Associated with Hermansky-Pudlak Syndrome-1 (HPS1) in an Iranian Family.
Int J Mol Cell Med;
5(3): 192-195, 2016.
Artigo
em Inglês
| MEDLINE
| ID: mdl-27942505