Search research articles

Search research articles

Related Experiment Videos

An approach to the child with dysmorphic features

Jonathan Kaufman^1,2, Susan M White^2,3

¹Department of Emergency Medicine, Royal Children's Hospital, Melbourne, Victoria, Australia.

Journal of Paediatrics and Child Health

|March 3, 2017

Summary

No abstract available in PubMed .

Related Experiment Videos

Related Concept Videos

You might also read

Related Articles

Articles linked to this work by shared authors, journal, and citation graph.

Sort by

Same author

Structural variant discovery and diagnostic impact in rare diseases from short-read and long-read sequencing.

medRxiv : the preprint server for health sciences·2026

Same author

A genome-wide deletion map in 125,730 individuals for novel rare disease gene and variant discovery.

medRxiv : the preprint server for health sciences·2026

Same author

A severe neurodevelopmental syndrome linked to a South Asian founder variant in the UFMylation adaptor CDK5RAP3.

Acta neuropathologica·2026

Same author

ISGylation is disrupted by <i>UBA7</i> gene variants identified in individuals with neurodevelopmental disorder phenotypes.

iScience·2026

Same author

Bi-allelic variants in NDUFA5 cause a mitochondriopathy with complex I deficiency.

American journal of human genetics·2026

Same author

Diagnostic Yield of Comprehensive Reanalysis After Nondiagnostic Short-Read Genome Sequencing in Infants With Unexplained Epilepsy.

Neurology·2026

ABOUT JoVE

Overview Leadership Blog JoVE Help Center

AUTHORS

Publishing Process Editorial Board Scope & Policies Peer Review FAQ Submit

LIBRARIANS

Testimonials Subscriptions Access Resources Library Advisory Board FAQ

RESEARCH

JoVE Journal Methods Collections JoVE Encyclopedia of Experiments Archive

EDUCATION

JoVE Core JoVE Business JoVE Science Education JoVE Lab Manual Faculty Resource Center Faculty Site

Terms & Conditions of Use