Detalhe da pesquisa
1.
p.Arg69Trp in RNASEH2C is a founder variant in three Indian families with Aicardi-Goutières syndrome.
Am J Med Genet A
; 176(1): 156-160, 2018 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29150899
2.
Novel mutation in an Indian patient with Methylmalonic Acidemia, cblA type.
Indian J Hum Genet
; 18(3): 346-8, 2012 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-23716945
3.
Further evidence of affected females with a heterozygous variant in FGF13 causing X-linked developmental and epileptic encephalopathy 90.
Eur J Med Genet
; 65(1): 104403, 2022 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-34871784
4.
Multilocus disease-causing genomic variations for Mendelian disorders: role of systematic phenotyping and implications on genetic counselling.
Eur J Hum Genet
; 29(12): 1774-1780, 2021 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-34276053