A 3-base pair insertional mutation in the choroideremia gene

Mutations in PNPLA6 are linked to photoreceptor degeneration and various forms of childhood blindness.

Nature communications·2015

Autosomal recessive hereditary spastic paraplegia-clinical and genetic characteristics of a well-defined cohort.

Neurogenetics·2013

Caregiver and adult patient perspectives on the importance of a diagnosis of 22q11.2 deletion syndrome.

Journal of intellectual disability research : JIDR·2011

Familial Simpson-Golabi-Behmel syndrome: studies of X-chromosome inactivation and clinical phenotypes in two female individuals with GPC3 mutations.

Clinical genetics·2010

A founder mutation in BBS2 is responsible for Bardet-Biedl syndrome in the Hutterite population: utility of SNP arrays in genetically heterogeneous disorders.

Clinical genetics·2010

Molecular modeling of retinoschisin with functional analysis of pathogenic mutations from human X-linked retinoschisis.

Human molecular genetics·2010

Multimodal Analysis Reveals Immune Suppression Associated With Hepatocellular Carcinoma Related to RBM27 and Constructs a Prognostic Model.

Human mutation·2026

Development of a New Portable Genetic Analyzer for Point-of-Care Molecular Genetics and Pharmacogenomics Analysis.

Human mutation·2026

Identifying Distinct Molecular Subtypes and Establishing a Prognostic Framework for DLBCL Patients via Multiomics Analysis and Machine Learning Approaches.

Human mutation·2026

S100A8/S100A9 Links Diabetic Stress to Cardiac Progenitor Cell Dysfunction and Fibrotic Heart Failure: An Integrated Transcriptomic, Single-Cell, and Functional Study.

Human mutation·2026

A 2004-2025 Bibliometric Study of Genetic Variation and Multiomics Biomarkers in Sepsis Based on 940 Publications.

Human mutation·2026

Immune Cell Profiles and Novel Insights Into Cancer Risk: A Focus on Oral and Pharyngeal Cancer.

Human mutation·2026

EvoDiffMol: evolutionary diffusion framework for 3D molecular design with optimized properties.

Journal of cheminformatics·2026

Harnessing genetic, chemical, and transcriptomic analyses guided the selection of Cistus creticus subsp. creticus genotypes rich in labdane-type diterpenes.

Planta·2026

Metabolic profiling-based screening of potential hepatotoxic combinations in green tea components under non-specific reactive oxygen species-removal cellular conditions.

Food & function·2026

Sustainable pH sensing: repurposing the anthocyanin-rich extract from Dioscorea alata for green analytical chemistry.

RSC advances·2026

mRNA decapping proteins regulate EIN2-dependent ethylene signaling in arabidopsis.

Frontiers in plant science·2026

Correction: İnce et al. Controlled and Modified Atmospheres Combined with 1-MCP Improve Postharvest Quality and Suppress Botrytis cinerea in Cut Roses (Rosa hybrida L.). Plants 2026, 15, 1452.

Plants (Basel, Switzerland)·2026

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A 3-base pair insertional mutation in the choroideremia gene

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Mutations in PNPLA6 are linked to photoreceptor degeneration and various forms of childhood blindness.

Autosomal recessive hereditary spastic paraplegia-clinical and genetic characteristics of a well-defined cohort.

Caregiver and adult patient perspectives on the importance of a diagnosis of 22q11.2 deletion syndrome.

Familial Simpson-Golabi-Behmel syndrome: studies of X-chromosome inactivation and clinical phenotypes in two female individuals with GPC3 mutations.

A founder mutation in BBS2 is responsible for Bardet-Biedl syndrome in the Hutterite population: utility of SNP arrays in genetically heterogeneous disorders.

Molecular modeling of retinoschisin with functional analysis of pathogenic mutations from human X-linked retinoschisis.

Multimodal Analysis Reveals Immune Suppression Associated With Hepatocellular Carcinoma Related to RBM27 and Constructs a Prognostic Model.

Development of a New Portable Genetic Analyzer for Point-of-Care Molecular Genetics and Pharmacogenomics Analysis.

Identifying Distinct Molecular Subtypes and Establishing a Prognostic Framework for DLBCL Patients via Multiomics Analysis and Machine Learning Approaches.

S100A8/S100A9 Links Diabetic Stress to Cardiac Progenitor Cell Dysfunction and Fibrotic Heart Failure: An Integrated Transcriptomic, Single-Cell, and Functional Study.

A 2004-2025 Bibliometric Study of Genetic Variation and Multiomics Biomarkers in Sepsis Based on 940 Publications.

Immune Cell Profiles and Novel Insights Into Cancer Risk: A Focus on Oral and Pharyngeal Cancer.

EvoDiffMol: evolutionary diffusion framework for 3D molecular design with optimized properties.

Harnessing genetic, chemical, and transcriptomic analyses guided the selection of Cistus creticus subsp. creticus genotypes rich in labdane-type diterpenes.

Metabolic profiling-based screening of potential hepatotoxic combinations in green tea components under non-specific reactive oxygen species-removal cellular conditions.

Sustainable pH sensing: repurposing the anthocyanin-rich extract from <i>Dioscorea alata</i> for green analytical chemistry.

mRNA decapping proteins regulate EIN2-dependent ethylene signaling in arabidopsis.

Correction: İnce et al. Controlled and Modified Atmospheres Combined with 1-MCP Improve Postharvest Quality and Suppress <i>Botrytis cinerea</i> in Cut Roses (<i>Rosa hybrida</i> L.). <i>Plants</i> 2026, <i>15</i>, 1452.

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A 3-base pair insertional mutation in the choroideremia gene

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