Detalhe da pesquisa
1.
Biallelic variants in CHST3 cause Spondyloepiphyseal dysplasia with joint dislocations in three Pakistani kindreds.
BMC Musculoskelet Disord
; 23(1): 818, 2022 Aug 30.
Artigo
Inglês
| MEDLINE | ID: mdl-36042462
2.
Heat-moisture treated waxy highland barley starch: Roles of starch granule-associated surface lipids, temperature and moisture.
Int J Biol Macromol
; 254(Pt 3): 127991, 2024 Jan.
Artigo
Inglês
| MEDLINE | ID: mdl-37949270
3.
Removing starch granule-associated surface lipids affects structure of heat-moisture treated hull-less barley starch.
Carbohydr Polym
; 303: 120477, 2023 Mar 01.
Artigo
Inglês
| MEDLINE | ID: mdl-36657850
4.
Updated strategies for the management, pathogenesis and molecular genetics of different forms of ichthyosis syndromes with prominent hair abnormalities.
Arch Dermatol Res
; 309(10): 773-785, 2017 Dec.
Artigo
Inglês
| MEDLINE | ID: mdl-28913623
5.
A novel splice-site mutation in ALS2 establishes the diagnosis of juvenile amyotrophic lateral sclerosis in a family with early onset anarthria and generalized dystonias.
PLoS One
; 9(12): e113258, 2014.
Artigo
Inglês
| MEDLINE | ID: mdl-25474699