Related Experiment Videos
Abnormal hair, craniofacial dysmorphism, and severe mental retardation - a new syndrome?
Abstract
No abstract available in PubMed .
Related Concept Videos
Articles linked to this work by shared authors, journal, and citation graph.
Dental abnormalities in Schimke immuno-osseous dysplasia.
Journal of dental research·2012
Longitudinal changes in cognitive and adaptive behavior scores in children and adolescents with the fragile X mutation or autism.
Journal of autism and developmental disorders·2002
Lack of association of the (AAAT)6 allele of the GXAlu tetranucleotide repeat in intron 27b of the NF1 gene with autism.
American journal of medical genetics·2001
Mutations within a furin consensus sequence block proteolytic release of ectodysplasin-A and cause X-linked hypohidrotic ectodermal dysplasia.
Proceedings of the National Academy of Sciences of the United States of America·2001
Familial ROSAH Syndrome Associated with the ALPK1 p.Thr237Ala Variant: Divergent Ocular Phenotypes and Partial Response to IL-6 Blockade.
Ocular immunology and inflammation·2026
Clinical obesity phenotypes among older adults: prevalence, determinants, and morbidity burden from the Longitudinal Ageing Study in India.
International journal of obesity (2005)·2026
A gene-based pangenome reveals genomic divergence and altitudinal differentiation in allotetraploid quinoa.
Frontiers in plant science·2026
Coronal Subarachnoid-Space Measurements in Fetuses with Growth Restriction and Appropriate-for-Gestational-Age Controls: A Prospective Comparative Study.
Journal of ultrasound in medicine : official journal of the American Institute of Ultrasound in Medicine·2026