Detalhe da pesquisa
1.
Clinical description, molecular delineation and genotype-phenotype correlation in 340 patients with KBG syndrome: addition of 67 new patients.
J Med Genet
; 60(7): 644-654, 2023 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-36446582
2.
Clinical delineation of the PACS1-related syndrome--Report on 19 patients.
Am J Med Genet A
; 170(3): 670-5, 2016 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-26842493
3.
Abnormal frontal gyrification pattern and uncinate development in patients with KBG syndrome caused by ANKRD11 aberrations.
Eur J Paediatr Neurol
; 35: 8-15, 2021 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-34547584
4.
The compatibility of hepatocytes with chemically modified porous silicon with reference to in vitro biosensors.
Biomaterials
; 30(1): 26-34, 2009 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-18845334
5.
Refractive lens exchange with foldable toric intraocular lens.
Am J Ophthalmol
; 147(6): 990-6, 996.e1, 2009 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-19286153