Detalhe da pesquisa
1.
De novo and bi-allelic variants in AP1G1 cause neurodevelopmental disorder with developmental delay, intellectual disability, and epilepsy.
Am J Hum Genet
; 108(7): 1330-1341, 2021 07 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34102099
2.
Bi-allelic Variants in METTL5 Cause Autosomal-Recessive Intellectual Disability and Microcephaly.
Am J Hum Genet
; 105(4): 869-878, 2019 10 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-31564433
3.
Improvement in the Tracking Performance of a Maneuvering Target in the Presence of Clutter.
Sensors (Basel)
; 22(20)2022 Oct 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-36298198
4.
Towards Automatic License Plate Detection.
Sensors (Basel)
; 22(3)2022 Feb 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-35161988
5.
A Machine-Learning-Based Robust Classification Method for PV Panel Faults.
Sensors (Basel)
; 22(21)2022 Nov 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-36366213
6.
A missense allele of PEX5 is responsible for the defective import of PTS2 cargo proteins into peroxisomes.
Hum Genet
; 140(4): 649-666, 2021 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-33389129
7.
Variants in PUS7 Cause Intellectual Disability with Speech Delay, Microcephaly, Short Stature, and Aggressive Behavior.
Am J Hum Genet
; 103(6): 1045-1052, 2018 12 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-30526862
8.
Biallelic variants in TMEM222 cause a new autosomal recessive neurodevelopmental disorder.
Genet Med
; 23(7): 1246-1254, 2021 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-33824500
9.
Novel loss-of-function mutations in COCH cause autosomal recessive nonsyndromic hearing loss.
Hum Genet
; 139(12): 1565-1574, 2020 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-32562050
10.
Mutations in FYCO1 identified in families with congenital cataracts.
Mol Vis
; 26: 334-344, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-32355443
11.
Tariff determination for municipal waste management power projects in Pakistan.
Waste Manag Res
; 38(8): 851-856, 2020 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-32342770
12.
Global genetic insight contributed by consanguineous Pakistani families segregating hearing loss.
Hum Mutat
; 40(1): 53-72, 2019 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30303587
13.
Mutations of human NARS2, encoding the mitochondrial asparaginyl-tRNA synthetase, cause nonsyndromic deafness and Leigh syndrome.
PLoS Genet
; 11(3): e1005097, 2015 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-25807530
14.
Genetic Testing of Non-familial Deaf Patients for CIB2 and GJB2 Mutations: Phenotype and Genetic Counselling.
Biochem Genet
; 55(5-6): 410-420, 2017 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-29086887
15.
Mutational Spectrum of MYO15A and the Molecular Mechanisms of DFNB3 Human Deafness.
Hum Mutat
; 37(10): 991-1003, 2016 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-27375115
16.
RSRC1 loss-of-function variants cause mild to moderate autosomal recessive intellectual disability.
Brain
; 143(4): e31, 2020 04 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32227164
17.
Molecular genetics of MARVELD2 and clinical phenotype in Pakistani and Slovak families segregating DFNB49 hearing loss.
Hum Genet
; 134(4): 423-37, 2015 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-25666562
18.
Targeted capture and next-generation sequencing identifies C9orf75, encoding taperin, as the mutated gene in nonsyndromic deafness DFNB79.
Am J Hum Genet
; 86(3): 378-88, 2010 Mar 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-20170899
19.
The impact of public infrastructure project delays on sustainable community development.
Environ Sci Pollut Res Int
; 30(14): 40519-40533, 2023 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-36622583
20.
Impact of corporate motives for sustainable sourcing: key moderating role of regulatory pressure.
Environ Sci Pollut Res Int
; 30(27): 71382-71395, 2023 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-37162676