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Biallelic mutations in the death domain of PIDD1 impair caspase-2 activation and are associated with intellectual disability

Translational psychiatry, 2021-01, Vol.11 (1), p.1-1, Article 1

2021

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MeCP2-E1 isoform is a dynamically expressed, weakly DNA-bound protein with different protein and DNA interactions compared to MeCP2-E2

Epigenetics & chromatin, 2019-10, Vol.12 (1), p.63-63, Article 63

2019

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Wide spectrum of neuronal and network phenotypes in human stem cell-derived excitatory neurons with Rett syndrome-associated MECP2 mutations

Translational psychiatry, 2022-10, Vol.12 (1), p.450-450, Article 450

2022

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Mutations in DCPS and EDC3 in autosomal recessive intellectual disability indicate a crucial role for mRNA decapping in neurodevelopment

Human molecular genetics, 2015-06, Vol.24 (11), p.3172-3180

2015

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Heterozygous De Novo Truncating Mutation of Nucleolin in an ASD Individual Disrupts Its Nucleolar Localization

Genes, 2021-12, Vol.13 (1), p.51

2021

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MeCP2 AT‐Hook1 mutations in patients with intellectual disability and/or schizophrenia disrupt DNA binding and chromatin compaction in vitro

Human mutation, 2018-05, Vol.39 (5), p.717-728

2018

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Expression of EBV encoded viral RNA 1, 2 and anti-inflammatory cytokine (interleukin-10) in FFPE lymphoma specimens: a preliminary study for diagnostic implication in Pakistan

Diagnostic pathology, 2011-07, Vol.6 (1), p.70-70, Article 70

2011

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MeCP2_E1 N-terminal modifications affect its degradation rate and are disrupted by the Ala2Val Rett mutation

Human molecular genetics, 2017-11, Vol.26 (21), p.4132-4141

2017

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Biallelic missense variants in ZBTB11 can cause intellectual disability in humans

Human molecular genetics, 2018-09, Vol.27 (18), p.3177-3188

2018

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From Function to Phenotype: Impaired DNA Binding and Clustering Correlates with Clinical Severity in Males with Missense Mutations in MECP2

Scientific reports, 2016-12, Vol.6 (1), p.38590-38590, Article 38590

2016

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A synonymous change, p.Gly16Gly in MECP2 Exon 1, causes a cryptic splice event in a Rett syndrome patient

Orphanet journal of rare diseases, 2013-07, Vol.8 (1), p.108-108, Article 108

2013

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Identification of a homozygous splice site mutation in the dynein axonemal light chain 4 gene on 22q13.1 in a large consanguineous family from Pakistan with congenital mirror movement disorder

Human genetics, 2014-11, Vol.133 (11), p.1419-1429

2014

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Intelligent Signal Processing and RF Energy Harvesting for State of Art 5G and B5G Networks

2024th edition, 2024

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Histopathological Classification of Breast Cancer Images Using a Multi-Scale Input and Multi-Feature Network

Cancers, 2020-08, Vol.12 (8), p.2031

2020

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A Review of Recent Advancements in Offshore Wind Turbine Technology

Energies (Basel), 2022-01, Vol.15 (2), p.579

2022

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Emerging molecular subtypes and therapies in acute lymphoblastic leukemia

Seminars in diagnostic pathology, 2023-05, Vol.40 (3), p.202-215

2023

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Segmentation of Variants of Nuclei on Whole Slide Images by Using Radiomic Features

Bioengineering (Basel), 2024-03, Vol.11 (3), p.252

2024

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Effects of Damaged Rotor on Wake Dynamics of Vertical Axis Wind Turbines

Energies (Basel), 2021-11, Vol.14 (21), p.7060

2021

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P660: Functional analysis of X-linked dyskeratosis congenita gene (DKC1) showed altered nucleolar localization and post-translational modification

Genetics in Medicine Open, 2024, Vol.2, p.101565, Article 101565

2024

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3D CFD Modelling of Performance of a Vertical Axis Turbine

Energies (Basel), 2023-01, Vol.16 (3), p.1144

2023

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Numerical Investigations on the Transient Aerodynamic Performance Characterization of a Multibladed Vertical Axis Wind Turbine

Energies (Basel), 2024-04, Vol.17 (8), p.1900

2024

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In silico design of multi-epitope vaccines against the hantaviruses by integrated structural vaccinology and molecular modeling approaches

PloS one, 2024-07, Vol.19 (7), p.e0305417

2024

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Start-up Dynamics of Vertical Axis Wind Turbines: A Review

Journal of physics. Conference series, 2023-10, Vol.2626 (1), p.12006

2023

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P082: Increased risk of hematolymphoid neoplasms in individuals with heterozygous deletion of a Fanconi anemia gene

Genetics in Medicine Open, 2024, Vol.2, p.100964, Article 100964

2024

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Anomaly Detection Based on Zero-Shot Outlier Synthesis and Hierarchical Feature Distillation

IEEE transaction on neural networks and learning systems, 2022-01, Vol.33 (1), p.281-291

2022

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Biallelic mutations in the death domain of PIDD1 impair caspase-2 activation and are associated with intellectual disability

MeCP2-E1 isoform is a dynamically expressed, weakly DNA-bound protein with different protein and DNA interactions compared to MeCP2-E2

Wide spectrum of neuronal and network phenotypes in human stem cell-derived excitatory neurons with Rett syndrome-associated MECP2 mutations

Mutations in DCPS and EDC3 in autosomal recessive intellectual disability indicate a crucial role for mRNA decapping in neurodevelopment

Heterozygous De Novo Truncating Mutation of Nucleolin in an ASD Individual Disrupts Its Nucleolar Localization

MeCP2 AT‐Hook1 mutations in patients with intellectual disability and/or schizophrenia disrupt DNA binding and chromatin compaction in vitro

Expression of EBV encoded viral RNA 1, 2 and anti-inflammatory cytokine (interleukin-10) in FFPE lymphoma specimens: a preliminary study for diagnostic implication in Pakistan

MeCP2_E1 N-terminal modifications affect its degradation rate and are disrupted by the Ala2Val Rett mutation

Biallelic missense variants in ZBTB11 can cause intellectual disability in humans

From Function to Phenotype: Impaired DNA Binding and Clustering Correlates with Clinical Severity in Males with Missense Mutations in MECP2

A synonymous change, p.Gly16Gly in MECP2 Exon 1, causes a cryptic splice event in a Rett syndrome patient

Identification of a homozygous splice site mutation in the dynein axonemal light chain 4 gene on 22q13.1 in a large consanguineous family from Pakistan with congenital mirror movement disorder

Intelligent Signal Processing and RF Energy Harvesting for State of Art 5G and B5G Networks

Histopathological Classification of Breast Cancer Images Using a Multi-Scale Input and Multi-Feature Network

A Review of Recent Advancements in Offshore Wind Turbine Technology

Emerging molecular subtypes and therapies in acute lymphoblastic leukemia

Segmentation of Variants of Nuclei on Whole Slide Images by Using Radiomic Features

Effects of Damaged Rotor on Wake Dynamics of Vertical Axis Wind Turbines

P660: Functional analysis of X-linked dyskeratosis congenita gene (DKC1) showed altered nucleolar localization and post-translational modification

3D CFD Modelling of Performance of a Vertical Axis Turbine

Numerical Investigations on the Transient Aerodynamic Performance Characterization of a Multibladed Vertical Axis Wind Turbine

In silico design of multi-epitope vaccines against the hantaviruses by integrated structural vaccinology and molecular modeling approaches

Start-up Dynamics of Vertical Axis Wind Turbines: A Review

P082: Increased risk of hematolymphoid neoplasms in individuals with heterozygous deletion of a Fanconi anemia gene

Anomaly Detection Based on Zero-Shot Outlier Synthesis and Hierarchical Feature Distillation

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