Detalhe da pesquisa
1.
An atypically mild case of ethylmalonic encephalopathy with pathogenic ETHE1 variant.
Am J Med Genet A
; 191(6): 1614-1618, 2023 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-36891747
2.
MN1 C-terminal truncation syndrome is a novel neurodevelopmental and craniofacial disorder with partial rhombencephalosynapsis.
Brain
; 143(1): 55-68, 2020 01 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31834374
3.
Design and Outcomes of a Novel Multidisciplinary Ophthalmic Genetics Clinic.
Genes (Basel)
; 14(3)2023 03 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-36980998
4.
Interstitial 4q Deletion Syndrome Including NR3C2 Causing Pseudohypoaldosteronism.
Mol Syndromol
; 10(6): 327-331, 2020 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-32021607