Trisomy 18 with karyotype 47,XX,-18,+i psu dic(18p)

Molecular studies of translocations and trisomy involving chromosome 13.

American journal of medical genetics·1996

Partial trisomy for 2q in a patient with dir dup(2) (q33.1q35).

Journal of medical genetics·1994

Bloom syndrome and maternal uniparental disomy for chromosome 15.

American journal of human genetics·1994

Mosaicism with a normal cell line and an autosomal structural rearrangement.

Journal of medical genetics·1994

Fragile site Xq27.3 in a family without mental retardation.

Clinical genetics·1992

A rare heteromorphism of chromosome 20 and reproductive loss.

Journal of medical genetics·1991

Founder variant in OTOG causing non-syndromic sensorineural hearing loss in Irish traveller population.

Journal of medical genetics·2026

Risk of breast cancer after ovarian cancer in germline BRCA1/2 heterozygotes.

Journal of medical genetics·2026

Rapid minigene workflow for functional reclassification of splicing variants in hereditary cancer diagnostics.

Journal of medical genetics·2026

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

Early In-Process Prediction of GMA Weld Quality from Laser Doppler Vibrometer Signals.

Sensors (Basel, Switzerland)·2026

Bio-Inspired Anisotropic On-Manifold Guidance for Bearing-Only UAV Target Localization Under No-Fly Zone Constraints.

Biomimetics (Basel, Switzerland)·2026

Treatment of Early Trilogy Valve Aortic Insufficiency With Valve-in-Valve Transcatheter Aortic Valve Replacement.

Case reports in cardiology·2026

LncRNA NONMMUT051252 promotes atopic dermatitis via the miR-141-5p/USP14/cGAS-STING axis and ferroptosis.

Archives of biochemistry and biophysics·2026

Optimising the tilt increment for in situ cryo-electron tomography.

eLife·2026

Australian therapeutic sunscreens are multi-filter mixtures: Single-ingredient margin of safety assessment does not address cumulative exposure.

Toxicology reports·2026

Related Experiment Videos

Trisomy 18 with karyotype 47,XX,-18,+i psu dic(18p)

Related Concept Videos

Molecular studies of translocations and trisomy involving chromosome 13.

Partial trisomy for 2q in a patient with dir dup(2) (q33.1q35).

Bloom syndrome and maternal uniparental disomy for chromosome 15.

Mosaicism with a normal cell line and an autosomal structural rearrangement.

Fragile site Xq27.3 in a family without mental retardation.

A rare heteromorphism of chromosome 20 and reproductive loss.

Founder variant in OTOG causing non-syndromic sensorineural hearing loss in Irish traveller population.

Risk of breast cancer after ovarian cancer in germline BRCA1/2 heterozygotes.

Rapid minigene workflow for functional reclassification of splicing variants in hereditary cancer diagnostics.

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.

Early In-Process Prediction of GMA Weld Quality from Laser Doppler Vibrometer Signals.

Bio-Inspired Anisotropic On-Manifold Guidance for Bearing-Only UAV Target Localization Under No-Fly Zone Constraints.

Treatment of Early Trilogy Valve Aortic Insufficiency With Valve-in-Valve Transcatheter Aortic Valve Replacement.

LncRNA NONMMUT051252 promotes atopic dermatitis via the miR-141-5p/USP14/cGAS-STING axis and ferroptosis.

Optimising the tilt increment for in situ cryo-electron tomography.

Australian therapeutic sunscreens are multi-filter mixtures: Single-ingredient margin of safety assessment does not address cumulative exposure.

Related Experiment Videos

Trisomy 18 with karyotype 47,XX,-18,+i psu dic(18p)

Related Concept Videos

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