Related Experiment Videos
A progressive cone-rod dystrophy and amelogenesis imperfecta: a new syndrome
1St John Ophthalmic Hospital, Jerusalem.
Journal of Medical Genetics
|November 1, 1988
Abstract:
Twenty-nine members of an extended Arab family from the Gaza Strip were found to be affected with cone-rod dystrophy and amelogenesis imperfecta, inherited in an autosomal recessive manner.
Related Concept Videos
Articles linked to this work by shared authors, journal, and citation graph.
Timeline to dysphagia resolution after endoscopic intervention of an interarytenoid defect based on Video Fluoroscopic Swallow Study dysphagia severity.
International journal of pediatric otorhinolaryngology·2023
Temporal parameters of post-stress prophylactic glucose treatment in rats.
Stress (Amsterdam, Netherlands)·2017
Role of miRNAs and alternative mRNA 3'-end cleavage and polyadenylation of their mRNA targets in cardiomyocyte hypertrophy.
Biochimica et biophysica acta·2016
NVP-QBE170: an inhaled blocker of the epithelial sodium channel with a reduced potential to induce hyperkalaemia.
British journal of pharmacology·2015
The impact of the two-week wait referral pathway on rectal cancer survival.
Colorectal disease : the official journal of the Association of Coloproctology of Great Britain and Ireland·2011
Angiotensin1-9 antagonises pro-hypertrophic signalling in cardiomyocytes via the angiotensin type 2 receptor.
The Journal of physiology·2010
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
Sitosterolemia in pregnancy: A rare lipid disorder and its obstetric management.
Obstetric medicine·2026
Bone and Cartilage Staining for Skeletal Preparations.
Methods in molecular biology (Clifton, N.J.)·2026
Bidirectional Mendelian randomization between oral microbiota and allergic rhinitis in East Asian populations.
Journal of oral microbiology·2026
Heritability - A Paradox of Quantitative Genetics.
Genetics·2026