Hall-Riggs syndrome: a possible second affected family?

[Unidentified bright objects and neuropsychiatric disturbances].

Minerva pediatrica·2013

Learning disabilities: case study of the Piedmont Region in the years 2006-2007-2008.

Minerva pediatrica·2012

Amenorrhea in eating disorders: poor stability of symptom after a one-year treatment.

Eating and weight disorders : EWD·2011

Prenatal features of Noonan syndrome: prevalence and prognostic value.

Prenatal diagnosis·2011

Eyebrow anomalies as a diagnostic sign of genomic disorders.

Clinical genetics·2010

Expanding CEP290 mutational spectrum in ciliopathies.

American journal of medical genetics. Part A·2009

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

Paradoxical coronary embolism through an atrial septal defect presenting as acute myocardial infarction: A case report.

Annals of pediatric cardiology·2026

Endovascular repair of a common hepatic artery aneurysm using overlapping self-expanding covered stent grafts.

Journal of vascular surgery cases and innovative techniques·2026

Gangrenous cholecystitis as a sentinel manifestation of chronic mesenteric ischemia in a hepatomesenteric trunk.

Journal of vascular surgery cases and innovative techniques·2026

Arterial Blood Gas Parameters during Cardiopulmonary Resuscitation and Sustained Return of Spontaneous Circulation in Out-of-Hospital Cardiac Arrest: A Preplanned Secondary Analysis of the AMCPR Trial.

Resuscitation·2026

Low-dose intravenous alteplase for acute retinal artery occlusion: A multicentre retrospective study.

Clinical neurology and neurosurgery·2026

Bevacizumab Reduces Epistaxis-Related Operative Burden in Hereditary Hemorrhagic Telangiectasia.

International forum of allergy & rhinology·2026

Related Experiment Videos

Hall-Riggs syndrome: a possible second affected family?

Related Concept Videos

[Unidentified bright objects and neuropsychiatric disturbances].

Learning disabilities: case study of the Piedmont Region in the years 2006-2007-2008.

Amenorrhea in eating disorders: poor stability of symptom after a one-year treatment.

Prenatal features of Noonan syndrome: prevalence and prognostic value.

Eyebrow anomalies as a diagnostic sign of genomic disorders.

Expanding CEP290 mutational spectrum in ciliopathies.

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.

Paradoxical coronary embolism through an atrial septal defect presenting as acute myocardial infarction: A case report.

Endovascular repair of a common hepatic artery aneurysm using overlapping self-expanding covered stent grafts.

Gangrenous cholecystitis as a sentinel manifestation of chronic mesenteric ischemia in a hepatomesenteric trunk.

Arterial Blood Gas Parameters during Cardiopulmonary Resuscitation and Sustained Return of Spontaneous Circulation in Out-of-Hospital Cardiac Arrest: A Preplanned Secondary Analysis of the AMCPR Trial.

Low-dose intravenous alteplase for acute retinal artery occlusion: A multicentre retrospective study.

Bevacizumab Reduces Epistaxis-Related Operative Burden in Hereditary Hemorrhagic Telangiectasia.

Related Experiment Videos

Hall-Riggs syndrome: a possible second affected family?

Related Concept Videos

Related Articles