Genetics and deafness: what do families want?

Internal fixation or hemiarthroplasty for undisplaced intracapsular hip fractures: a randomized trial.

Acta orthopaedica Belgica·2025

Timing of surgery for internal fixation of intracapsular hip fractures and complications at 1 year; a 32 year clinical study of 2,366 patients at a single center.

Injury·2021

Characteristics and outcomes of hip fractures in lower limb amputees.

Injury·2020

Defining Significant Events for Neonatal and Pediatric Transport: Results of a Combined Delphi and Consensus Meeting Process.

Journal of pediatric intensive care·2019

Management and outcome of the dislocated hip hemiarthroplasty.

The bone & joint journal·2018

Sliding hip screw versus the Targon PFT nail for trochanteric hip fractures: a randomised trial of 400 patients.

The bone & joint journal·2017

Childhood-onset neurodegeneration and brain atrophy: defining UBTF-related developmental regression and progressive ataxia.

Journal of medical genetics·2026

BHLHE22 monoallelic and biallelic variants cause a neurodevelopmental disorder with agenesis of the corpus callosum, intellectual disability, abnormal muscle tone and movement abnormalities.

Journal of medical genetics·2026

Evolving roles within the genomic medicine workforce: a revised framework for UK practice-position on behalf of the Association of Genetic Nurses and Counsellors and the Clinical Genetics Society.

Journal of medical genetics·2026

Actionable genotypes beyond the coding sequence and their association with lifespan in the UK Biobank.

Journal of medical genetics·2026

Pan-ethnic preconception screening: evidence from a large-scale programme in a genetically diverse population.

Journal of medical genetics·2026

CACNA1C variants associated with focal epilepsy and their correlations with arrhythmias and developmental disorders.

Journal of medical genetics·2026

Update and recommendations on genetic testing for amyotrophic lateral sclerosis in clinical practice: a Brazilian expert view.

Frontiers in neurology·2026

Characterisation of the Novel HLA-DRB1*10:52 Allele by Next-Generation Sequencing and Oxford Nanopore Sequencing.

HLA·2026

Hyperexcitability in hippocampal CA1 pyramidal cells OF Fmr1 knockout mice emerges during late postnatal development.

Neuroscience·2026

Identifying the Potential Role of Missense KIRREL3 Variants in Neurodevelopmental Phenotypes: A Case Series.

American journal of medical genetics. Part A·2026

Delineating the CTBP1-Related Phenotypic Spectrum: A Review of HADDTS and Atypical Variants.

International journal of molecular sciences·2026

Association Study Between NOTCH2 Gene and Idiopathic Central Precocious Puberty in Korean Girls.

International journal of molecular sciences·2026

Related Experiment Videos

Genetics and deafness: what do families want?

Related Concept Videos

Internal fixation or hemiarthroplasty for undisplaced intracapsular hip fractures: a randomized trial.

Timing of surgery for internal fixation of intracapsular hip fractures and complications at 1 year; a 32 year clinical study of 2,366 patients at a single center.

Characteristics and outcomes of hip fractures in lower limb amputees.

Defining Significant Events for Neonatal and Pediatric Transport: Results of a Combined Delphi and Consensus Meeting Process.

Management and outcome of the dislocated hip hemiarthroplasty.

Sliding hip screw versus the Targon PFT nail for trochanteric hip fractures: a randomised trial of 400 patients.

Childhood-onset neurodegeneration and brain atrophy: defining UBTF-related developmental regression and progressive ataxia.

BHLHE22 monoallelic and biallelic variants cause a neurodevelopmental disorder with agenesis of the corpus callosum, intellectual disability, abnormal muscle tone and movement abnormalities.

Evolving roles within the genomic medicine workforce: a revised framework for UK practice-position on behalf of the Association of Genetic Nurses and Counsellors and the Clinical Genetics Society.

Actionable genotypes beyond the coding sequence and their association with lifespan in the UK Biobank.

Pan-ethnic preconception screening: evidence from a large-scale programme in a genetically diverse population.

CACNA1C variants associated with focal epilepsy and their correlations with arrhythmias and developmental disorders.

Update and recommendations on genetic testing for amyotrophic lateral sclerosis in clinical practice: a Brazilian expert view.

Characterisation of the Novel HLA-DRB1*10:52 Allele by Next-Generation Sequencing and Oxford Nanopore Sequencing.

Hyperexcitability in hippocampal CA1 pyramidal cells OF Fmr1 knockout mice emerges during late postnatal development.

Identifying the Potential Role of Missense KIRREL3 Variants in Neurodevelopmental Phenotypes: A Case Series.

Delineating the CTBP1-Related Phenotypic Spectrum: A Review of HADDTS and Atypical Variants.

Association Study Between NOTCH2 Gene and Idiopathic Central Precocious Puberty in Korean Girls.

Related Experiment Videos

Genetics and deafness: what do families want?

Related Concept Videos

Related Articles