International Registry of Abnormal Karyotypes

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

The second stage of labor: factors influencing duration.

American journal of obstetrics and gynecology·1991

On-line databases of human chromosome anomalies and variants.

Proceedings. Symposium on Computer Applications in Medical Care·1991

Development of the U.S. Army Ambulatory Care Data Base.

Military medicine·1990

Genetic Architecture of Pediatric Cardiomyopathies Assessed by Whole-Exome Sequencing: Insights Into Early-Onset and Syndromic Forms.

Clinical genetics·2026

Two Japanese Cases Highlighting Structural and Phenotypic Overlap in AGO1- and AGO2-Related Neurodevelopmental Disorders.

Clinical genetics·2026

Surviving Males With PORCN Variants: Expanding the Clinical, Molecular, and Mechanistic Spectrum.

Clinical genetics·2026

A De Novo DHX16 Variant Associated With Neuromuscular Oculoauditory Syndrome Regulates Pre-mRNA Splicing In Vitro.

Clinical genetics·2026

Clinical and Genetic Profile of One Molecularly Confirmed and One Clinically Suspected Case of LZTR1-Related Noonan Syndrome.

Clinical genetics·2026

Hereditary Polyneuropathy Experience of a Tertiary Single-Center in Türkiye: Beyond the Tip of the Iceberg.

Clinical genetics·2026

Clinical and Cytogenomic Characterization of Three Patients With Distal 1q43q44 Deletion: Twin Sisters With a de novo Deletion and a Patient With der(1)t(1;21)(q43;q22.3)mat.

Journal of clinical laboratory analysis·2026

HIPK4 is a novel gene associated with teratozoospermia and male infertility.

Human reproduction open·2026

Edge Preserved U-Net for chromosome edge detection.

Computational biology and chemistry·2026

A Novel SLC25A4 Variant Causing Mitochondrial Dysfunction, Myopathy and Cardiomyopathy: A Functional and Molecular Characterization.

International journal of molecular sciences·2026

Circadian Disruption Is Associated with Elevated Whole-Semen mtDNA Copy Number and Implicates CRY1 as a Candidate Regulator in Humans and Mice.

International journal of molecular sciences·2026

A single-cell multi-omic atlas of the human pancreas reveals potential for cellular plasticity across development, health, and disease.

Cell metabolism·2026

Related Experiment Videos

International Registry of Abnormal Karyotypes

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.

The second stage of labor: factors influencing duration.

On-line databases of human chromosome anomalies and variants.

Development of the U.S. Army Ambulatory Care Data Base.

Genetic Architecture of Pediatric Cardiomyopathies Assessed by Whole-Exome Sequencing: Insights Into Early-Onset and Syndromic Forms.

Two Japanese Cases Highlighting Structural and Phenotypic Overlap in AGO1- and AGO2-Related Neurodevelopmental Disorders.

Surviving Males With PORCN Variants: Expanding the Clinical, Molecular, and Mechanistic Spectrum.

A De Novo DHX16 Variant Associated With Neuromuscular Oculoauditory Syndrome Regulates Pre-mRNA Splicing In Vitro.

Clinical and Genetic Profile of One Molecularly Confirmed and One Clinically Suspected Case of LZTR1-Related Noonan Syndrome.

Hereditary Polyneuropathy Experience of a Tertiary Single-Center in Türkiye: Beyond the Tip of the Iceberg.

Clinical and Cytogenomic Characterization of Three Patients With Distal 1q43q44 Deletion: Twin Sisters With a de novo Deletion and a Patient With der(1)t(1;21)(q43;q22.3)mat.

HIPK4 is a novel gene associated with teratozoospermia and male infertility.

Edge Preserved U-Net for chromosome edge detection.

A Novel SLC25A4 Variant Causing Mitochondrial Dysfunction, Myopathy and Cardiomyopathy: A Functional and Molecular Characterization.

Circadian Disruption Is Associated with Elevated Whole-Semen mtDNA Copy Number and Implicates CRY1 as a Candidate Regulator in Humans and Mice.

A single-cell multi-omic atlas of the human pancreas reveals potential for cellular plasticity across development, health, and disease.

Related Experiment Videos

International Registry of Abnormal Karyotypes

Related Concept Videos

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