Worldwide Rare disases experts by disease

A curated directory of experts by rare disease, including their contact information, institution and country/location. Please enter a disease on the search field to search for experts in our knowledge base.


Experts by disease

Name
16p11.2p12.2 microduplication syndrome expert list
1q21.1 microdeletion syndrome expert list
1q21.1 microduplication syndrome expert list
2p15p16.1 microdeletion syndrome expert list
3q29 microdeletion syndrome expert list
acute myeloid leukemia with 11q23 abnormalities expert list
distal 16p11.2 microdeletion syndrome expert list
proximal 16p11.2 microdeletion syndrome expert list
wolf-hirschhorn syndrome expert list
22q11.2 deletion syndrome expert list
8p23.1 microdeletion syndrome expert list
distal monosomy 10p expert list
distal 22q11.2 microdeletion syndrome expert list
3mc syndrome expert list
45,x/46,xy mixed gonadal dysgenesis expert list
46,xy complete gonadal dysgenesis expert list
47,xyy syndrome expert list
partial chromosome y deletion expert list
46,xx disorder of sex development induced by androgens excess expert list
46,xx disorder of sex development-anorectal anomalies syndrome expert list

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