Hirschsprung's disease, distinctive facies, and microcephaly

Nodular reverse halo sign in active pulmonary tuberculosis: A rare CT feature?

Diagnostic and interventional imaging·2020

Evaluation of a multi-disease carrier screening programme in Ashkenazi Jewish high schools.

Clinical genetics·2010

Rapid progression of an anal Buschke-Lowenstein tumour into a metastasising squamous cell carcinoma in an HIV-infected patient.

Sexually transmitted infections·2009

Detection of cryptic pathogenic copy number variations and constitutional loss of heterozygosity using high resolution SNP microarray analysis in 117 patients referred for cytogenetic analysis and impact on clinical practice.

Journal of medical genetics·2008

Human papillomavirus type 26 infection causing multiple invasive squamous cell carcinomas of the fingernails in an AIDS patient under highly active antiretroviral therapy.

The British journal of dermatology·2007

[Idiopathic interstitial pneumonias: from classification to diagnostic work-up].

Der Radiologe·2007

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

Middle aortic syndrome in a young child: A case successfully managed by a hybrid technique.

Annals of pediatric cardiology·2026

Anesthetic Management of a Pediatric Patient With CTNNB1-Related Neurodevelopmental Disorder: A Case Report.

Cureus·2026

When Minutes Matter: Point-of-Care Ultrasound Unmasking a Clinically Occult Hernia in a Toddler.

Cureus·2026

Minimizing tricuspid valve damage during neonatal patent ductus arteriosus closure by implementing a change in procedural technique.

Annals of pediatric cardiology·2026

A Case Report of Childhood Polyarteritis Nodosa: A Rare Vasculitic Disorder with Multisystem Involvement.

Nigerian medical journal : journal of the Nigeria Medical Association·2026

Partial Sigmoid Volvulus Presenting as Acute Pediatric Bowel Obstruction: A Surgical Case Report.

Cureus·2026

Related Experiment Videos

Hirschsprung's disease, distinctive facies, and microcephaly

Related Concept Videos

Nodular reverse halo sign in active pulmonary tuberculosis: A rare CT feature?

Evaluation of a multi-disease carrier screening programme in Ashkenazi Jewish high schools.

Rapid progression of an anal Buschke-Lowenstein tumour into a metastasising squamous cell carcinoma in an HIV-infected patient.

Detection of cryptic pathogenic copy number variations and constitutional loss of heterozygosity using high resolution SNP microarray analysis in 117 patients referred for cytogenetic analysis and impact on clinical practice.

Human papillomavirus type 26 infection causing multiple invasive squamous cell carcinomas of the fingernails in an AIDS patient under highly active antiretroviral therapy.

[Idiopathic interstitial pneumonias: from classification to diagnostic work-up].

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.

Middle aortic syndrome in a young child: A case successfully managed by a hybrid technique.

Anesthetic Management of a Pediatric Patient With CTNNB1-Related Neurodevelopmental Disorder: A Case Report.

When Minutes Matter: Point-of-Care Ultrasound Unmasking a Clinically Occult Hernia in a Toddler.

Minimizing tricuspid valve damage during neonatal patent ductus arteriosus closure by implementing a change in procedural technique.

A Case Report of Childhood Polyarteritis Nodosa: A Rare Vasculitic Disorder with Multisystem Involvement.

Partial Sigmoid Volvulus Presenting as Acute Pediatric Bowel Obstruction: A Surgical Case Report.

Related Experiment Videos

Hirschsprung's disease, distinctive facies, and microcephaly

Related Concept Videos

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