Detalles de la búsqueda
1.
Identification of novel homozygous variants in FOXE3 and AP4M1 underlying congenital syndromic anophthalmia and microphthalmia.
J Gene Med
; 26(1): e3601, 2024 Jan.
Artículo
en Inglés
| MEDLINE | ID: mdl-37758467
2.
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
3.
Association of Homozygous PROP1 Mutation in a Saudi Family with Combined Pituitary Hormone Deficiency.
Medicina (Kaunas)
; 59(3)2023 Feb 27.
Artículo
en Inglés
| MEDLINE | ID: mdl-36984475
4.
Molecular Dynamic Simulation Analysis of a Novel Missense Variant in CYB5R3 Gene in Patients with Methemoglobinemia.
Medicina (Kaunas)
; 59(2)2023 Feb 16.
Artículo
en Inglés
| MEDLINE | ID: mdl-36837579
5.
A novel nonsense variant in EXOC8 underlies a neurodevelopmental disorder.
Neurogenetics
; 23(3): 203-212, 2022 07.
Artículo
en Inglés
| MEDLINE | ID: mdl-35460391
6.
An expansion of phenotype: novel homozygous variant in the MED17 identified in patients with progressive microcephaly and global developmental delay.
J Neurogenet
; 36(4): 108-114, 2022.
Artículo
en Inglés
| MEDLINE | ID: mdl-36508181
7.
A homozygous missense variant in the MLC1 gene underlies megalencephalic leukoencephalopathy with subcortical cysts in large kindred: Heterozygous carriers show seizure and mild motor function deterioration.
Am J Med Genet A
; 188(4): 1075-1082, 2022 04.
Artículo
en Inglés
| MEDLINE | ID: mdl-34918859
8.
Ultrastructure abnormalities of collagen and elastin in Arab patients with arterial tortuosity syndrome.
J Cutan Pathol
; 49(7): 618-622, 2022 Jul.
Artículo
en Inglés
| MEDLINE | ID: mdl-35302653
9.
Exome sequencing reveals the first intragenic deletion in ABCA5 underlying autosomal recessive hypertrichosis.
Clin Exp Dermatol
; 47(6): 1137-1143, 2022 Jun 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-35150007
10.
Exome Sequencing Revealed a Novel Splice Site Variant in the CRB2 Gene Underlying Nephrotic Syndrome.
Medicina (Kaunas)
; 58(12)2022 Dec 04.
Artículo
en Inglés
| MEDLINE | ID: mdl-36556986
11.
Further confirmation of the association of SLC12A2 with non-syndromic autosomal-dominant hearing impairment.
J Hum Genet
; 66(12): 1169-1175, 2021 Dec.
Artículo
en Inglés
| MEDLINE | ID: mdl-34226616
12.
A novel homozygous frameshift mutation in the DCC gene in a Pakistani family with autosomal recessive horizontal gaze palsy with progressive scoliosis-2 with impaired intellectual development.
Am J Med Genet A
; 185(2): 355-361, 2021 02.
Artículo
en Inglés
| MEDLINE | ID: mdl-33141514
13.
An intrafamilial phenotypic variability in Ellis-Van Creveld syndrome due to a novel 27 bps deletion mutation.
Am J Med Genet A
; 185(10): 2888-2894, 2021 10.
Artículo
en Inglés
| MEDLINE | ID: mdl-34037314
14.
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
15.
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
16.
A homozygous nonsense variant in DYM underlies Dyggve-Melchior-Clausen syndrome associated with ectodermal features.
Mol Biol Rep
; 47(9): 7083-7088, 2020 Sep.
Artículo
en Inglés
| MEDLINE | ID: mdl-32886330
17.
Apparent Missense Variant in COL7A1 Causes a Severe Form of Recessive Dystrophic Epidermolysis Bullosa via Effects on Splicing.
Acta Derm Venereol
; 100(16): adv00275, 2020 Sep 30.
Artículo
en Inglés
| MEDLINE | ID: mdl-32926178
18.
A novel missense variant in the RASGRP2 gene in patients with moderate to severe bleeding disorder.
Platelets
; 31(5): 646-651, 2020 Jul 03.
Artículo
en Inglés
| MEDLINE | ID: mdl-32609603
19.
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
20.
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