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
em Inglês
| MEDLINE | ID: mdl-36042462
2.
Correction to: Novel mutation G324C in WNT1 mapped in a large Pakistani family with severe recessively inherited Osteogenesis Imperfecta.
J Biomed Sci
; 26(1): 31, 2019 04 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-31030663
3.
Novel mutation G324C in WNT1 mapped in a large Pakistani family with severe recessively inherited Osteogenesis Imperfecta.
J Biomed Sci
; 25(1): 82, 2018 Nov 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-30447692
4.
Biallelic variants in four genes underlying recessive osteogenesis imperfecta.
Eur J Med Genet
; 63(8): 103954, 2020 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-32413570
5.
Recessive multiple epiphyseal dysplasia - Clinical characteristics caused by rare compound heterozygous SLC26A2 genotypes.
Eur J Med Genet
; 62(11): 103573, 2019 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-30423444
6.
A Novel Homozygous Frameshift Variant in XYLT2 Causes Spondyloocular Syndrome in a Consanguineous Pakistani Family.
Front Genet
; 10: 144, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-30891060
7.
Osteoporosis and skeletal dysplasia caused by pathogenic variants in SGMS2.
JCI Insight
; 4(7)2019 04 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30779713
8.
SGCD Homozygous Nonsense Mutation (p.Arg97∗) Causing Limb-Girdle Muscular Dystrophy Type 2F (LGMD2F) in a Consanguineous Family, a Case Report.
Front Genet
; 9: 727, 2018.
Artigo
em Inglês
| MEDLINE | ID: mdl-30733730
9.
Pharmacological evaluation of Rhazya stricta root extract / Evaluación farmacológica del extracto de raíz de Rhazya stricta
Bol. latinoam. Caribe plantas med. aromát
; 19(2): 188-206, mar. 2020. ilus, tab
Artigo
em Inglês
| LILACS | ID: biblio-1104201