Detalhe da pesquisa
1.
Clinical and molecular phenotyping of a child with Hermansky-Pudlak syndrome-7, an uncommon genetic type of HPS.
Mol Genet Metab
; 120(4): 378-383, 2017 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-28259707
2.
Cystic cerebellar dysplasia and biallelic LAMA1 mutations: a lamininopathy associated with tics, obsessive compulsive traits and myopia due to cell adhesion and migration defects.
J Med Genet
; 53(5): 318-29, 2016 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-27095636
3.
A clinical report of Chediak-Higashi syndrome in infancy with a novel genotype from the Indian subcontinent.
Int J Dermatol
; 55(3): 317-21, 2016 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-26499269