Tetrasomy 12p (Pallister-Killian syndrome)

Whole exome sequencing identifies multiple diagnoses in congenital glaucoma with systemic anomalies.

Clinical genetics·2016

Mosaic supernumerary ring chromosome 1 in a three-generational family: 10-year follow-up report.

European journal of medical genetics·2010

Epigenetic mutations of the imprinted IGF2-H19 domain in Silver-Russell syndrome (SRS): results from a large cohort of patients with SRS and SRS-like phenotypes.

Journal of medical genetics·2008

Persistent low thymic activity and non-cardiac mortality in children with chromosome 22q11.2 microdeletion and partial DiGeorge syndrome.

Clinical and experimental immunology·2008

Mutation and phenotypic spectrum in patients with cardio-facio-cutaneous and Costello syndrome.

Clinical genetics·2007

Duplications in addition to terminal deletions are present in a proportion of ring chromosomes: clues to the mechanisms of formation.

Journal of medical genetics·2007

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

The British Society for Genetic Medicine guidance on managing incidental findings identified during rare disease genomic testing.

Journal of medical genetics·2026

Congenital knee deformity: rare case report and unexpected finding in the delivery room.

AME case reports·2026

X-linked ARSL chondrodysplasia punctata: expanding the spectrum with a severe multisystem phenotype.

Case reports in perinatal medicine·2026

Phenytoin-induced drug rash with eosinophilia and systemic symptoms syndrome in a child: A rare but serious adverse drug reaction.

Indian journal of pharmacology·2026

Bilateral Papillary Traction due to Persistent Hyaloid Vessel Remnants in Aymé-Gripp Syndrome.

Case reports in ophthalmological medicine·2026

Coexisting PTEN and SDHB Mutations in a Pediatric Patient with PTEN Hamartoma Tumor Syndrome: a case report.

Frontiers in pediatrics·2026

Buccal Lobular Capillary Haemangioma in Children - A Case Report.

Annals of maxillofacial surgery·2026

Related Experiment Videos

Tetrasomy 12p (Pallister-Killian syndrome)

Related Concept Videos

Whole exome sequencing identifies multiple diagnoses in congenital glaucoma with systemic anomalies.

Mosaic supernumerary ring chromosome 1 in a three-generational family: 10-year follow-up report.

Epigenetic mutations of the imprinted IGF2-H19 domain in Silver-Russell syndrome (SRS): results from a large cohort of patients with SRS and SRS-like phenotypes.

Persistent low thymic activity and non-cardiac mortality in children with chromosome 22q11.2 microdeletion and partial DiGeorge syndrome.

Mutation and phenotypic spectrum in patients with cardio-facio-cutaneous and Costello syndrome.

Duplications in addition to terminal deletions are present in a proportion of ring chromosomes: clues to the mechanisms of formation.

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.

The British Society for Genetic Medicine guidance on managing incidental findings identified during rare disease genomic testing.

Congenital knee deformity: rare case report and unexpected finding in the delivery room.

X-linked ARSL chondrodysplasia punctata: expanding the spectrum with a severe multisystem phenotype.

Phenytoin-induced drug rash with eosinophilia and systemic symptoms syndrome in a child: A rare but serious adverse drug reaction.

Bilateral Papillary Traction due to Persistent Hyaloid Vessel Remnants in Aymé-Gripp Syndrome.

Coexisting PTEN and SDHB Mutations in a Pediatric Patient with PTEN Hamartoma Tumor Syndrome: a case report.

Buccal Lobular Capillary Haemangioma in Children - A Case Report.

Related Experiment Videos

Tetrasomy 12p (Pallister-Killian syndrome)

Related Concept Videos

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