Detalhe da pesquisa
1.
NGS-driven molecular diagnosis of heterogeneous hereditary neurological disorders reveals novel and known variants in disease-causing genes.
Mol Genet Genomics
; 297(6): 1601-1613, 2022 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-36002593
2.
Whole exome sequencing identifies LRP1 as a pathogenic gene in autosomal recessive keratosis pilaris atrophicans.
J Med Genet
; 52(9): 599-606, 2015 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-26142438
3.
Exome sequencing circumvents missing clinical data and identifies a BSCL2 mutation in congenital lipodystrophy.
BMC Med Genet
; 15: 71, 2014 Jun 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-24961962
4.
Novel missense mutation in the RSPO4 gene in congenital hyponychia and evidence for a polymorphic initiation codon (p.M1I).
BMC Med Genet
; 13: 120, 2012 Dec 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-23234511
5.
ß-Thalassemia in Pakistan: a pilot program on prenatal diagnosis in Multan.
J Pediatr Hematol Oncol
; 34(2): 90-2, 2012 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-22258353
6.
Genetic analysis of osteopetrosis in Pakistani families identifies novel and known sequence variants.
BMC Med Genomics
; 14(1): 264, 2021 11 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-34753502
7.
Hereditary brain tumor with a homozygous germline mutation in PMS2: pedigree analysis and prenatal screening in a family with constitutional mismatch repair deficiency (CMMRD) syndrome.
Fam Cancer
; 18(2): 261-265, 2019 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30478739
8.
Gastric tuberculosis with concomitant stromal tumour of stomach (GIST).
J Coll Physicians Surg Pak
; 13(1): 48-50, 2003 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-12685977
9.
Autosomal recessive transmission of a rare KRT74 variant causes hair and nail ectodermal dysplasia: allelism with dominant woolly hair/hypotrichosis.
PLoS One
; 9(4): e93607, 2014.
Artigo
em Inglês
| MEDLINE | ID: mdl-24714551
10.
Evidence for autosomal recessive inheritance in SPG3A caused by homozygosity for a novel ATL1 missense mutation.
Eur J Hum Genet
; 22(10): 1180-4, 2014 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-24473461
11.
Cenani-Lenz syndrome restricted to limb and kidney anomalies associated with a novel LRP4 missense mutation.
Eur J Med Genet
; 56(7): 371-4, 2013 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-23664847