Comment on "Partial trisomy 11q...", report by De France et al. (1984)

Studies in a large family with late-onset Alzheimer disease (LOAD).

Alzheimer disease and associated disorders·1997

Complex chromosome 4, 9, and 22 rearrangement in a patient presenting with AML-FAB M2.

Cancer genetics and cytogenetics·1997

Renal medullary carcinoma: clinical and therapeutic aspects of a newly described tumor.

Cancer·1996

On-line databases of human chromosome anomalies and variants.

Proceedings. Symposium on Computer Applications in Medical Care·1991

Prenatal diagnosis of tetrasomy 47,XY,+i(12p) confirmed by in situ hybridization.

Prenatal diagnosis·1988

Segregation analysis in reciprocal translocation carriers.

American journal of medical genetics·1984

Genetic Testing Unveils a Novel Thrombospondin-1 Domain Containing Protein 1 Gene Variant as the Cause of Chronic Edema in a 79-Year-Old Woman.

Clinical genetics·2026

A Novel De Novo STAG1 Variant at the RAD21 Binding Interface Is Associated With Hypoglycemia, Recurrent Fever, Immunodeficiency and Features of Classical Cohesinopathies.

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Pathogenicity of NUSAP1 Variants Is Defined by NMD-Escape: Evidence From Two Novel Cases and Systematic Population-Based Variant Analysis.

Clinical genetics·2026

Biallelic ABCA13 Loss-of-Function Variants in a Child With Neurodevelopmental Delay: A Case Report.

Clinical genetics·2026

Variants in the Imprinted IGF2 Gene: A Review and Phasing of De Novo Variants Using Long-Read Sequencing.

Clinical genetics·2026

Establishing a Prognosis When Identifying Pathogenic Variants in Usher Syndrome/DFNB-Related Genes: An Impossible Challenge?

Clinical genetics·2026

Oxy and Met States of Type 3 Copper in a Single Functional Unit Revealed by the Crystal Structure of Abalone Hemocyanin.

Inorganic chemistry·2026

Stable Breakdown-Resistant Molecular Antiferroelectric Triggered by Confinement-Dependent Atomic Displacement.

Angewandte Chemie (International ed. in English)·2026

Whole-mount optical clearing of rabbit tenuissimus muscle for assessment of muscle spindle morphology.

Frontiers in neuroscience·2026

Screening for obstructive sleep apnoea in the general population in Iceland and uptake of positive airway pressure treatment: a prospective cohort study.

BMJ open·2026

Novel insights into β3-adrenoceptor function in a model of retinopathy of prematurity: the contribution of astrocytes to retinal protection.

Frontiers in neuroscience·2026

Exchangeable copper concentration and 3-kilodalton ultrafiltered urinary copper measurements are successfully adapted and partially validated in dogs.

American journal of veterinary research·2026

Related Experiment Videos

Comment on "Partial trisomy 11q...", report by De France et al. (1984)

Related Concept Videos

Studies in a large family with late-onset Alzheimer disease (LOAD).

Complex chromosome 4, 9, and 22 rearrangement in a patient presenting with AML-FAB M2.

Renal medullary carcinoma: clinical and therapeutic aspects of a newly described tumor.

On-line databases of human chromosome anomalies and variants.

Prenatal diagnosis of tetrasomy 47,XY,+i(12p) confirmed by in situ hybridization.

Segregation analysis in reciprocal translocation carriers.

Genetic Testing Unveils a Novel Thrombospondin-1 Domain Containing Protein 1 Gene Variant as the Cause of Chronic Edema in a 79-Year-Old Woman.

A Novel De Novo STAG1 Variant at the RAD21 Binding Interface Is Associated With Hypoglycemia, Recurrent Fever, Immunodeficiency and Features of Classical Cohesinopathies.

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Oxy and Met States of Type 3 Copper in a Single Functional Unit Revealed by the Crystal Structure of Abalone Hemocyanin.

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Comment on "Partial trisomy 11q...", report by De France et al. (1984)

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