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1.
Association between 17q21 variants and asthma predisposition in Pashtun population from Pakistan.
J Asthma
; 60(1): 63-75, 2023 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-34982638
2.
Prenatal exome sequencing and chromosomal microarray analysis in fetal structural anomalies in a highly consanguineous population reveals a propensity of ciliopathy genes causing multisystem phenotypes.
Hum Genet
; 141(1): 101-126, 2022 Jan.
Artículo
en Inglés
| MEDLINE | ID: mdl-34853893
3.
The genotypic and phenotypic spectrum of pycnodysostosis in Saudi Arabia: Novel variants and clinical findings.
Am J Med Genet A
; 185(8): 2455-2463, 2021 08.
Artículo
en Inglés
| MEDLINE | ID: mdl-33963797
4.
Features and behavior of valvular abnormalities in adolescent and adult patients in mucopolysaccharidosis: an echocardiographic study.
Monaldi Arch Chest Dis
; 91(4)2021 Aug 09.
Artículo
en Inglés
| MEDLINE | ID: mdl-34461699
5.
A homozygous missense variant in the homeobox domain of the NKX6-2 results in progressive spastic ataxia type 8 associated with lower limb weakness and neurological manifestations.
J Gene Med
; 22(8): e3196, 2020 08.
Artículo
en Inglés
| MEDLINE | ID: mdl-32246862
6.
A novel nonsense mutation in the STS gene in a Pakistani family with X-linked recessive ichthyosis: including a very rare case of two homozygous female patients.
BMC Med Genet
; 21(1): 20, 2020 01 31.
Artículo
en Inglés
| MEDLINE | ID: mdl-32005174
7.
Genotype-phenotype correlation of 33 patients with maple syrup urine disease.
Am J Med Genet A
; 182(11): 2486-2500, 2020 11.
Artículo
en Inglés
| MEDLINE | ID: mdl-32812330
8.
Identification of TMC1 as a relatively common cause for nonsyndromic hearing loss in the Saudi population.
Am J Med Genet B Neuropsychiatr Genet
; 183(3): 172-180, 2020 04.
Artículo
en Inglés
| MEDLINE | ID: mdl-31854501
9.
Thymic Stromal Lymphopoietin (TSLP) gene variant rs1837253 is significantly associated with Asthma prevalence in Pakistani Pashtun women.
Pak J Pharm Sci
; 33(6(Supplementary)): 2729-2737, 2020 Nov.
Artículo
en Inglés
| MEDLINE | ID: mdl-33879431
10.
Whole exome sequencing identifies a novel FANCD2 gene splice site mutation associated with disease progression in chronic myeloid leukemia: Implication in targeted therapy of advanced phase CML.
Pak J Pharm Sci
; 33(3(Special)): 1419-1426, 2020 May.
Artículo
en Inglés
| MEDLINE | ID: mdl-33361032
11.
An atypical pulmonary fibrosis is associated with co-inheritance of mutations in the calcium binding protein genes S100A3 and S100A13.
Eur Respir J
; 54(1)2019 07.
Artículo
en Inglés
| MEDLINE | ID: mdl-31073086
12.
A novel mutation in the HPGD gene causing primary hypertrophic osteoarthropathy with digital clubbing in a Pakistani family.
Ann Hum Genet
; 82(3): 171-176, 2018 05.
Artículo
en Inglés
| MEDLINE | ID: mdl-29282707
13.
Inclusion of joint laxity, recurrent patellar dislocation, and short distal ulnae as a feature of Van Den Ende-Gupta syndrome: a case report.
BMC Med Genet
; 19(1): 18, 2018 01 30.
Artículo
en Inglés
| MEDLINE | ID: mdl-29378527
14.
Progressive deafness-dystonia due to SERAC1 mutations: A study of 67 cases.
Ann Neurol
; 82(6): 1004-1015, 2017 Dec.
Artículo
en Inglés
| MEDLINE | ID: mdl-29205472
15.
Delineating the phenotypic spectrum of hyperphosphatasia with mental retardation syndrome 4 in 14 patients of Middle-Eastern origin.
Am J Med Genet A
; 176(12): 2850-2857, 2018 12.
Artículo
en Inglés
| MEDLINE | ID: mdl-30345601
16.
SLC5A1 Mutations in Saudi Arabian Patients With Congenital Glucose-Galactose Malabsorption.
J Pediatr Gastroenterol Nutr
; 66(2): 250-252, 2018 02.
Artículo
en Inglés
| MEDLINE | ID: mdl-28753187
17.
Heterogeneous clinical spectrum of DNAJC12-deficient hyperphenylalaninemia: from attention deficit to severe dystonia and intellectual disability.
J Med Genet
; 2017 Aug 09.
Artículo
en Inglés
| MEDLINE | ID: mdl-28794131
18.
Two novel LHX3 mutations in patients with combined pituitary hormone deficiency including cervical rigidity and sensorineural hearing loss.
BMC Endocr Disord
; 17(1): 17, 2017 Mar 16.
Artículo
en Inglés
| MEDLINE | ID: mdl-28302169
19.
Clinical genomics can facilitate countrywide estimation of autosomal recessive disease burden.
Genet Med
; 18(12): 1244-1249, 2016 12.
Artículo
en Inglés
| MEDLINE | ID: mdl-27124789
20.
Xq21.31-q21.32 duplication underlies intellectual disability in a large family with five affected males.
Am J Med Genet A
; 170A(1): 87-93, 2016 Jan.
Artículo
en Inglés
| MEDLINE | ID: mdl-26358363