Customize your search results with filters

Term Search
You can select from the dropdown list OR enter your own terms to refine the search.
Save publications for later
Sign Up
Not sure about your diagnosis?
Check Your Symptoms
Found 11 publications

A 5-Year-Old Palestinian Bedouin Girl with Repeated Self-Induced Injuries to the Digits, a Diagnosis of Congenital Insensitivity to Pain, and Anhidrosis.

ATP-citrate lyase promotes axonal transport across species.

Gorham-Stout Disease with Multiple Bone Involvement-Challenging Diagnosis of a Rare Disease and Literature Review.

Clinical relevance of targeted exome sequencing in patients with rare syndromic short stature.

Fludrocortisone for orthostatic hypotension.

Analysis of genetic variation for a child affected with congenital insensitivity to pain with anhidrosis and albinism by whole genome sequencing.

Atypical arthritis of the hands : Collagenosis-part 2.

Sarcoidosis-associated acro-osteolysis.

Hajdu-Cheney Syndrome: A Systematic Review of the Literature.

Carbidopa for Afferent Baroreflex Failure in Familial Dysautonomia: A Double-Blind Randomized Crossover Clinical Trial.

Randomized trial of l-serine in patients with hereditary sensory and autonomic neuropathy type 1.

Showing 1-11 of 11