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Last Updated: 03/06/2025
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Found 71 publications
The First Patient with Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome Caused by De Novo c.423+4916 T>C ZRS Variant: A Case Report.
Journal: International journal of molecular sciences
Published: June 28, 2024
Prenatal diagnosis of fetal skeletal anomalies via whole-exome sequencing in a tertiary referral center.
Journal: Scientific reports
Published: February 01, 2024
Laurin-Sandrow Syndrome: A Case Report and Review of Literature.
Journal: The journal of hand surgery Asian-Pacific volume
Published: August 15, 2022
"Laurin-Sandrow Syndrome - a review of the literature and classification system".
Journal: Clinical dysmorphology
Published: March 08, 2022
Aberrant phase separation and nucleolar dysfunction in rare genetic diseases.
Journal: Nature
Published: November 09, 2021
Congenital diplopodia-A rare case of duplicated lower limb: A case report.
Journal: International journal of surgery case reports
Published: August 15, 2021
Art and Pediatric Orthopaedics: The Master of Alkmaar and an Act of Mercy.
Journal: Journal of pediatric orthopedics
Published: October 05, 2020
A variant form of Laurin-Sandrow syndrome in an adult patient.
Journal: The Journal of hand surgery, European volume
Published: December 10, 2019
Ellis-van Creveld syndrome in a patient from Tanzania.
Journal: American journal of medical genetics. Part A
Published: March 19, 2019
Fetal micromelia, thoracic dysplasia and polydactyly revisited: A case-based antenatal sonographic approach.
Journal: Ultrasound (Leeds, England)
Published: February 21, 2019
Last Updated: 03/06/2025