Two sibs with unbalanced translocations in the Waardenburg gene region

QF-PCR-based prenatal detection of aneuploidy in a southeast Asian population.

Prenatal diagnosis·2004

Rapid prenatal diagnosis of chromosome abnormalities.

Singapore medical journal·2001

Twenty-four hour, non-invasive, neonatal chromosome analysis--application in a case of mixed gonadal dysgenesis.

Annals of the Academy of Medicine, Singapore·2000

Interstitial deletion of chromosome 5 in a neonate due to maternal insertion, ins(8;5)(p23;q33q35).

American journal of medical genetics·1999

Centromeric inactivation in a dicentric human Y;21 translocation chromosome.

Chromosoma·1997

A new lethal neonatal short limb dwarfism.

Clinical dysmorphology·1996

Evaluating consistency and variation in mainstream germline cancer genetic and genomic testing.

Journal of medical genetics·2026

Prophylactic total gastrectomy in germline CDH1 carriers: results across 25 years from a systematic review and meta-analysis.

Journal of medical genetics·2026

Safety and efficacy of AAV-based mini- and micro-dystrophin gene therapies in Duchenne muscular dystrophy: a systematic review and meta-analysis of clinical trials.

Journal of medical genetics·2026

Phenotypic manifestations and variant reclassification of germline PTEN variants: a nationwide Danish study.

Journal of medical genetics·2026

Solid tumours in RASopathies: insights from a large monocentric cohort and systematic review of the literature.

Journal of medical genetics·2026

Hypertrophic cardiomyopathy: a genome-wide association meta-analysis and polygenic risk score.

Journal of medical genetics·2026

Founder mutations in movement disorders: global distribution, molecular mechanisms, and clinical consequences-a scoping review.

Neurogenetics·2026

Evaluation of genetic parameters affecting the reliability and effectiveness of kinship reconstruction in Forest and Tundra Nenets populations using X-STR markers.

Vavilovskii zhurnal genetiki i selektsii·2026

Case Report: A novel 1, 171 bp GCK promoter/exon 1 deletion in a Chinese pedigree: correcting a misdiagnosis of MODY10 based on an incidental INS variant.

Frontiers in endocrinology·2026

A novel variant c.1185_1196dup (p.(Gly396_Ser399dup)) in the SLC26A4 gene associated with recessive hearing loss.

Vavilovskii zhurnal genetiki i selektsii·2026

Optical genome mapping identifies clinically relevant somatic structural variation in epilepsy-affected brain tissue.

Genome research·2026

Genetic Susceptibility in Relative Maternal Protection From Type 1 Diabetes.

Diabetes care·2026

Related Experiment Videos

Two sibs with unbalanced translocations in the Waardenburg gene region

Related Concept Videos

QF-PCR-based prenatal detection of aneuploidy in a southeast Asian population.

Rapid prenatal diagnosis of chromosome abnormalities.

Twenty-four hour, non-invasive, neonatal chromosome analysis--application in a case of mixed gonadal dysgenesis.

Interstitial deletion of chromosome 5 in a neonate due to maternal insertion, ins(8;5)(p23;q33q35).

Centromeric inactivation in a dicentric human Y;21 translocation chromosome.

A new lethal neonatal short limb dwarfism.

Evaluating consistency and variation in mainstream germline cancer genetic and genomic testing.

Prophylactic total gastrectomy in germline CDH1 carriers: results across 25 years from a systematic review and meta-analysis.

Safety and efficacy of AAV-based mini- and micro-dystrophin gene therapies in Duchenne muscular dystrophy: a systematic review and meta-analysis of clinical trials.

Phenotypic manifestations and variant reclassification of germline PTEN variants: a nationwide Danish study.

Solid tumours in RASopathies: insights from a large monocentric cohort and systematic review of the literature.

Hypertrophic cardiomyopathy: a genome-wide association meta-analysis and polygenic risk score.

Founder mutations in movement disorders: global distribution, molecular mechanisms, and clinical consequences-a scoping review.

Evaluation of genetic parameters affecting the reliability and effectiveness of kinship reconstruction in Forest and Tundra Nenets populations using X-STR markers.

Case Report: A novel 1, 171 bp GCK promoter/exon 1 deletion in a Chinese pedigree: correcting a misdiagnosis of MODY10 based on an incidental INS variant.

A novel variant c.1185_1196dup (p.(Gly396_Ser399dup)) in the SLC26A4 gene associated with recessive hearing loss.

Optical genome mapping identifies clinically relevant somatic structural variation in epilepsy-affected brain tissue.

Genetic Susceptibility in Relative Maternal Protection From Type 1 Diabetes.

Related Experiment Videos

Two sibs with unbalanced translocations in the Waardenburg gene region

Abstract:

Related Concept Videos

Related Articles