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Last Updated: 03/06/2025
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Found 6273 publications
Stüve-Wiedemann syndrome with a novel variant in the LIFR gene: A case report.
Journal: Medicine
Published: January 31, 2025
A novel compound heterozygous mutation in the DYNC2H1 gene in a Chinese family with Jeune syndrome.
Journal: Hereditas
Published: December 04, 2024
A Case Report of Larsen's Syndrome, Antiphospholipid Syndrome, Diaphragmatic Hernia, and a Colon Polyp: A Hidden Association or a Mere Coincidence.
Journal: The Journal of the Association of Physicians of India
Published: November 20, 2024
Case report: FGF4L1 retrogene insertion is lacking in the tall dachshund phenotype.
Journal: Frontiers in veterinary science
Published: November 04, 2024
Atypical presentation of Dyggve-Melchior-Clausen disease in a Moroccan child without developmental delay and intellectual disabilities.
Journal: Molecular biology reports
Published: October 30, 2024
Clinical Challenges in Diagnosing Primordial Dwarfism: Insights from a MOPD II Case Study.
Journal: Medicina (Kaunas, Lithuania)
Published: October 22, 2024
Cervical spinal decompression and fusion in the setting of Wolcott-Rallison Syndrome: a rare pediatric indication and its surgical considerations.
Journal: Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery
Published: October 20, 2024
Clinical, laboratory, and molecular characteristics of patients with spondyloenchondrodysplasia: a case series study.
Journal: European journal of pediatrics
Published: October 07, 2024
The relationship between radiographic disc calcification score and FGF4L2 genotype in dachshunds.
Journal: Journal of veterinary internal medicine
Published: September 30, 2024
Last Updated: 03/06/2025