Turner's syndrome and 46,X,i(Yq) karyotype

PLP1 duplication at the breakpoint regions of an apparently balanced t(X;22) translocation causes Pelizaeus-Merzbacher disease in a girl.

Clinical genetics·2012

An Illustrative Case of Neurofibromatosis Type 1 and NF1 Microdeletion.

Molecular syndromology·2010

Chromosome imbalances in syndromic hearing loss.

Clinical genetics·2009

Constitutional haploinsufficiency of tumor suppressor genes in mentally retarded patients with microdeletions in 17p13.1.

Cytogenetic and genome research·2009

Clinical and molecular delineation of the 17q21.31 microdeletion syndrome.

Journal of medical genetics·2008

High frequency of submicroscopic chromosomal imbalances in patients with syndromic craniosynostosis detected by a combined approach of microsatellite segregation analysis, multiplex ligation-dependent probe amplification and array-based comparative genome hybridisation.

Journal of medical genetics·2008

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

Characterisation of the Novel HLA-DRB1*14:02:13 Allele by Sequencing-Based Typing.

HLA·2026

The Novel HLA-B*51:397 Allele, Identified by Sanger Dideoxy Nucleotide Sequencing in a Chinese Individual.

HLA·2026

Characterisation of the Novel HLA-C*08:334 Allele in a Brazilian Volunteer Donor.

HLA·2026

Identification of the Novel HLA-DQB1*05:385 Allele Through Next-Generation Sequencing.

HLA·2026

Uncommon Concurrent Retinal and Cerebral Metastasis in High-risk Neuroblastoma: Diagnostic Utility of 68Ga-DOTATATE PET/CT Despite Negative 18F-FDG PET/CT.

Clinical nuclear medicine·2026

Identification of the Novel HLA-A*68:346 Allele in a Brazilian Individual by Next-Generation Sequencing.

HLA·2026

Related Experiment Videos

Turner's syndrome and 46,X,i(Yq) karyotype

Related Concept Videos

PLP1 duplication at the breakpoint regions of an apparently balanced t(X;22) translocation causes Pelizaeus-Merzbacher disease in a girl.

An Illustrative Case of Neurofibromatosis Type 1 and NF1 Microdeletion.

Chromosome imbalances in syndromic hearing loss.

Constitutional haploinsufficiency of tumor suppressor genes in mentally retarded patients with microdeletions in 17p13.1.

Clinical and molecular delineation of the 17q21.31 microdeletion syndrome.

High frequency of submicroscopic chromosomal imbalances in patients with syndromic craniosynostosis detected by a combined approach of microsatellite segregation analysis, multiplex ligation-dependent probe amplification and array-based comparative genome hybridisation.

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.

Characterisation of the Novel HLA-DRB1*14:02:13 Allele by Sequencing-Based Typing.

The Novel HLA-B*51:397 Allele, Identified by Sanger Dideoxy Nucleotide Sequencing in a Chinese Individual.

Characterisation of the Novel HLA-C*08:334 Allele in a Brazilian Volunteer Donor.

Identification of the Novel HLA-DQB1*05:385 Allele Through Next-Generation Sequencing.

Uncommon Concurrent Retinal and Cerebral Metastasis in High-risk Neuroblastoma: Diagnostic Utility of 68Ga-DOTATATE PET/CT Despite Negative 18F-FDG PET/CT.

Identification of the Novel HLA-A*68:346 Allele in a Brazilian Individual by Next-Generation Sequencing.

Related Experiment Videos

Turner's syndrome and 46,X,i(Yq) karyotype

Related Concept Videos

Related Articles