Related Experiment Videos
Letter: International registry of abnormal karyotypes
American Journal of Human Genetics
|July 1, 1975
Abstract
No abstract available in PubMed .
Related Concept Videos
Articles linked to this work by shared authors, journal, and citation graph.
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
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
Exome analysis of 22,319 individuals links extremely rare copy-number variants and 22q11.21 dosage to Alzheimer risk.
American journal of human genetics·2026
Long-read transcriptome analysis using IsoRanker for identifying pathogenic variants in Mendelian conditions.
American journal of human genetics·2026
RNA splicing evidence enables robust classification of BRCA1 exon 18 variants: Results from the ENIGMA consortium.
American journal of human genetics·2026
Distinct mutational landscapes for germline and somatic cancer variants in forty tumor suppressor genes.
American journal of human genetics·2026
Shared genetic basis and structure of syndromic and normal facial variation.
American journal of human genetics·2026
The Gabriella Miller Kids First Data Resource for genomic research in pediatric cancer and congenital anomalies.
American journal of human genetics·2026
Partial trisomy of 1q42.1 and 8q24.3 deletion: a family history.
Revista paulista de pediatria : orgao oficial da Sociedade de Pediatria de Sao Paulo·2026
A Novel Hemizygous CDX4 Missense Variant Identified in a Taiwanese Man with Severe Teratozoospermia.
Medicina (Kaunas, Lithuania)·2026