Detalhe da pesquisa
1.
PAK1 c.1409 T > a (p. Leu470Gln) de novo variant affects the protein kinase domain, leading to epilepsy, macrocephaly, spastic quadriplegia, and hydrocephalus: Case report and review of the literature.
Am J Med Genet A
; 191(6): 1619-1625, 2023 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-36905087
2.
Advancements in therapeutics for inborn errors of metabolism.
Curr Opin Pediatr
; 34(6): 559-564, 2022 12 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-35993290
3.
Health-related quality of life in adults with osteogenesis imperfecta.
Clin Genet
; 99(6): 772-779, 2021 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33580568
4.
Pediatric Outcomes Data Collection Instrument is a Useful Patient-Reported Outcome Measure for Physical Function in Children with Osteogenesis Imperfecta.
Genet Med
; 22(3): 581-589, 2020 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-31772349
5.
Recurrent mosaic MTOR c.5930C > T (p.Thr1977Ile) variant causing megalencephaly, asymmetric polymicrogyria, and cutaneous pigmentary mosaicism: Case report and review of the literature.
Am J Med Genet A
; 179(3): 475-479, 2019 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-30569621
6.
Defects in lipid homeostasis reflect the function of TANGO2 in phospholipid and neutral lipid metabolism.
Elife
; 122023 03 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-36961129
7.
The CTSA Consortium's Catalog of Assets for Translational and Clinical Health Research (CATCHR).
Clin Transl Sci
; 7(2): 100-7, 2014 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-24456567