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 237 publications

Expanding the ethnic and clinical spectrum of the IDS c.1122C>T mutation: first report from Pakistan.

Expanding the ethnic and clinical spectrum of the IDS c.1122C>T mutation: first report from Pakistan.

Journal: Neurogenetics
Published: July 01, 2025

Basilar invagination in osteogenesis imperfecta-Case report.

Basilar invagination in osteogenesis imperfecta-Case report.

Journal: Radiology case reports
Published: May 31, 2025

Expansion of Phenotyping and Genotypic Spectra of KIF7-Related Intellectual Disability: Case Report and Review of Literature.

Expansion of Phenotyping and Genotypic Spectra of KIF7-Related Intellectual Disability: Case Report and Review of Literature.

Journal: American journal of medical genetics. Part A
Published: April 19, 2025

Radiological diagnosis of infantile osteopetrosis in a 1-year-old with macrocephaly and jaundice.

Radiological diagnosis of infantile osteopetrosis in a 1-year-old with macrocephaly and jaundice.

Journal: Radiology case reports
Published: April 15, 2025

First case report of a unique combination of congenital limb and skeletal anomalies mimicking VACTERL and Gollop-Wolfgang syndromes.

First case report of a unique combination of congenital limb and skeletal anomalies mimicking VACTERL and Gollop-Wolfgang syndromes.

Journal: International journal of surgery case reports
Published: April 10, 2025

Hydrolethalus Syndrome: A Case of a Rare Congenital Disorder.

Hydrolethalus Syndrome: A Case of a Rare Congenital Disorder.

Journal: Diagnostics (Basel, Switzerland)
Published: December 19, 2024

Dual Diagnosis of Sifrim-Hitz-Weiss Syndrome and Neurofibromatosis Type 1: Expanding the Phenotype of Cardiac Features in Sifrim-Hitz-Weiss Syndrome and Quick Literature Review.

Dual Diagnosis of Sifrim-Hitz-Weiss Syndrome and Neurofibromatosis Type 1: Expanding the Phenotype of Cardiac Features in Sifrim-Hitz-Weiss Syndrome and Quick Literature Review.

Journal: American journal of medical genetics. Part A
Published: November 20, 2024

Challenges and solutions in the treatment of spinal disorders in patients with skeletal dysplasia: A comprehensive review.

Challenges and solutions in the treatment of spinal disorders in patients with skeletal dysplasia: A comprehensive review.

Journal: World journal of methodology
Published: October 17, 2024

Unraveling Dandy-Walker Syndrome: A Case Report with Clinical Presentations and Management Insights.

Unraveling Dandy-Walker Syndrome: A Case Report with Clinical Presentations and Management Insights.

Journal: International journal of clinical pediatric dentistry
Published: August 30, 2024

Exome sequence analysis identifies a homozygous, pathogenic, frameshift variant in the MAN2B1 gene underlying clinical variant of α-mannosidosis.

Exome sequence analysis identifies a homozygous, pathogenic, frameshift variant in the MAN2B1 gene underlying clinical variant of α-mannosidosis.

Journal: Frontiers in genetics
Published: April 23, 2024

Management of Pediatric Patient with Multiple Cranial, Intracranial, and Spinal Manifestations of Penttinen Syndrome: A Case Report.

Management of Pediatric Patient with Multiple Cranial, Intracranial, and Spinal Manifestations of Penttinen Syndrome: A Case Report.

Journal: Pediatric neurosurgery
Published: April 22, 2024

Review of Teratogenic Effects of Leflunomide, Accutane, Thalidomide, Warfarin, Tetracycline, and Angiotensin-Converting Enzyme Inhibitors.

Review of Teratogenic Effects of Leflunomide, Accutane, Thalidomide, Warfarin, Tetracycline, and Angiotensin-Converting Enzyme Inhibitors.

Journal: Cureus
Published: November 14, 2023
Showing 1-12 of 237

Last Updated: 10/31/2025