A father and daughter with fragile X chromosome

Mechanisms of ring chromosome formation in 11 cases of human ring chromosome 21.

American journal of human genetics·1992

Fragile site at 12q13 associated with phenotypic abnormalities.

Journal of medical genetics·1984

Regional mapping of hexokinase-1 within the short arm of chromosome 10.

Human heredity·1984

X long arm deletion with oligomenorrhoea.

Journal of medical genetics·1982

Isodicentric X chromosome in a woman with characteristics of gonadal dysgenesis.

Human genetics·1979

A case of long arm deletion of the X chromosome in a patient with secondary amenorrhea.

Human genetics·1979

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

Journal of medical genetics·2026

Exome sequencing and large-scale analysis of electronic medical record-linked biobank data identify candidate deafness genes.

Journal of medical genetics·2026

Exploring the clinical and mutational spectrum of MORC2-associated disorders.

Journal of medical genetics·2026

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

A Dynamic Model of Weekly Sleep Timing: Endogenous Origins of Social Jetlag.

Nature and science of sleep·2026

Replication stress links Geminin depletion to centrosome amplification.

bioRxiv : the preprint server for biology·2026

Comparative Kd analysis of the interaction between aggregation-prone Nup153 3-2 and KapN.

Journal of magnetic resonance (San Diego, Calif. : 1997)·2026

Organelle partitioning in the multi-budding yeast Aureobasidium pullulans.

Molecular biology of the cell·2026

Pronuclear Transfer and Maternal Spindle Transfer in the Mouse.

Methods in molecular biology (Clifton, N.J.)·2026

Molecular architecture and spatial organization of proteasomes in the human sperm nucleus.

Nature structural & molecular biology·2026

Related Experiment Videos

A father and daughter with fragile X chromosome

Related Concept Videos

Mechanisms of ring chromosome formation in 11 cases of human ring chromosome 21.

Fragile site at 12q13 associated with phenotypic abnormalities.

Regional mapping of hexokinase-1 within the short arm of chromosome 10.

X long arm deletion with oligomenorrhoea.

Isodicentric X chromosome in a woman with characteristics of gonadal dysgenesis.

A case of long arm deletion of the X chromosome in a patient with secondary amenorrhea.

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

Exome sequencing and large-scale analysis of electronic medical record-linked biobank data identify candidate deafness genes.

Exploring the clinical and mutational spectrum of MORC2-associated disorders.

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.

A Dynamic Model of Weekly Sleep Timing: Endogenous Origins of Social Jetlag.

Replication stress links Geminin depletion to centrosome amplification.

Comparative Kd analysis of the interaction between aggregation-prone Nup153 3-2 and KapN.

Organelle partitioning in the multi-budding yeast Aureobasidium pullulans.

Pronuclear Transfer and Maternal Spindle Transfer in the Mouse.

Molecular architecture and spatial organization of proteasomes in the human sperm nucleus.

Related Experiment Videos

A father and daughter with fragile X chromosome

Related Concept Videos

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