Related Experiment Videos
Re-evaluation of kyphomelic dysplasia
American Journal of Medical Genetics. Part A
|July 2, 2003
Abstract
No abstract available in PubMed .
Related Concept Videos
Articles linked to this work by shared authors, journal, and citation graph.
Lessons from two series by physicians and caregivers' self-reported data in DDX3X-related disorders.
Molecular genetics & genomic medicine·2024
Cat eye syndrome: Clinical, cytogenetics and familial findings in a large cohort of 43 patients highlighting the importance of congenital heart disease and inherited cases.
American journal of medical genetics. Part A·2023
Growth charts in Kabuki syndrome 1.
American journal of medical genetics. Part A·2019
Expanding the phenotype in Adams-Oliver syndrome correlating with the genotype.
American journal of medical genetics. Part A·2019
Expansion of the Clinical Spectrum of Autosomal Recessive Fatty Acyl-CoA Reductase 1 (FAR1) Deficiency: A Previously Unreported Association With Imperforate Anus-A Case Report.
American journal of medical genetics. Part A·2026
A Novel de Novo WAC Frameshift Variant in DeSanto-Shinawi Syndrome With Temporo-Occipital Epileptiform Activity and Congenital Cardiac Anomalies.
American journal of medical genetics. Part A·2026
Clinical, Genetic, and Endocrine Features of Bardet-Biedl Syndrome in a Pediatric and Adult Cohort.
American journal of medical genetics. Part A·2026
Lethal Congenital Contracture Syndrome Type 3 in an Isolated Canadian Population.
American journal of medical genetics. Part A·2026
Identifying the Potential Role of Missense KIRREL3 Variants in Neurodevelopmental Phenotypes: A Case Series.
American journal of medical genetics. Part A·2026
Concurrent Germline RB1 & Mosaic TP53 in a Child With Multiple Childhood Cancers.
American journal of medical genetics. Part A·2026
Adult-Onset Still's Disease Presenting With Persistent Hyperpigmented Scaling Rash in a Young Ethiopian Woman: A Case Report From a Resource-Limited Setting.
Clinical medicine insights. Case reports·2026