Filters
Term Search
You can select from the dropdown list OR enter your own terms to refine the search.
Last Updated: 10/31/2025
Save publications for later
Sign Up
Not sure about your diagnosis?
Check Your Symptoms
Found 418 publications
A pictorial essay of thoracic wall diseases: multiple pathologies in the same anatomical site.
Journal: Insights into imaging
Published: June 05, 2025
Pilomatricoma in Syndromic Contexts: A Literature Review and a Report of a Case in Apert Syndrome.
Journal: Dermatopathology (Basel, Switzerland)
Published: April 14, 2025
Evaluation of CACNA1C-Positive Patients Evaluated in a Tertiary Genetic Heart Rhythm Clinic.
Journal: Journal of cardiovascular translational research
Published: February 28, 2025
Disruptions in primary visual cortex physiology and function in a mouse model of Timothy syndrome.
Journal: Cerebral cortex (New York, N.Y. : 1991)
Published: December 20, 2024
Unilateral amelia with limb deformities and multiple congenital malformations in a newborn: a case report from Palestine.
Journal: Annals of medicine and surgery (2012)
Published: November 04, 2024
Presurgical Nasal Molding in a Bilateral Cleft Lip and Palate Patient with Patau Syndrome Using a Novel Bhatia's Hook: A Case Report.
Journal: International journal of clinical pediatric dentistry
Published: October 23, 2024
Knock-in swine model reveals new arrhythmia mechanism in Timothy syndrome.
Journal: Nature cardiovascular research
Published: August 28, 2024
Synaptic plasticity deficits in a mouse model of Timothy syndrome: LTP saturation and its pharmacological rescue by nifedipine.
Journal: Biomedicine & pharmacotherapy = Biomedecine & pharmacotherapie
Published: August 26, 2024
Clinical Presentation and Co-Morbidities in Bardet-Biedel Syndrome: Case Series from a Single Centre.
Journal: Indian journal of endocrinology and metabolism
Published: July 23, 2024
A Natural History Study of Timothy Syndrome.
Journal: Orphanet journal of rare diseases
Published: May 15, 2024
Last Updated: 10/31/2025