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Last Updated: 01/07/2026

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Found 5526 publications

The APERT Severity Scale: A Quantitative Tool for Risk Stratification in Apert Syndrome.

The APERT Severity Scale: A Quantitative Tool for Risk Stratification in Apert Syndrome.

Journal: Plastic and reconstructive surgery
Published: December 16, 2025

Filippi syndrome-associated CKAP2L modulates microtubule dynamics essential for mitosis and ciliary length regulation.

Filippi syndrome-associated CKAP2L modulates microtubule dynamics essential for mitosis and ciliary length regulation.

Journal: Journal of molecular cell biology
Published: December 10, 2025

Timothy Syndrome and CACNA1C-Related Disorder: First International Language and Management Guidelines Consensus Statement.

Timothy Syndrome and CACNA1C-Related Disorder: First International Language and Management Guidelines Consensus Statement.

Journal: Research square
Published: December 03, 2025

Buffering of genetic defects in animal development by regeneration programs.

Buffering of genetic defects in animal development by regeneration programs.

Journal: bioRxiv : the preprint server for biology
Published: November 24, 2025

Partnering With Physical Therapists and Speech-Language Pathologists in Early Childhood to Promote Access to Assistive Technology for a Child With Medical Complexity.

Partnering With Physical Therapists and Speech-Language Pathologists in Early Childhood to Promote Access to Assistive Technology for a Child With Medical Complexity.

Journal: Journal of developmental and behavioral pediatrics : JDBP
Published: November 12, 2025

Prenatal Diagnosis of Fraser Syndrome at 20 Weeks' Gestation: A Case Report and Review of Literature.

Prenatal Diagnosis of Fraser Syndrome at 20 Weeks' Gestation: A Case Report and Review of Literature.

Journal: Cureus
Published: November 12, 2025

Long-term patient reported outcomes and quality of life after syndactyly separation.

Long-term patient reported outcomes and quality of life after syndactyly separation.

Journal: The Journal of hand surgery, European volume
Published: October 22, 2025

MOTA syndrome diagnosis following unexpected neonatal death.

MOTA syndrome diagnosis following unexpected neonatal death.

Journal: BMJ case reports
Published: October 06, 2025

A Systematic Review of Digital Deformities in Pediatric Patients and Their Podiatric Treatments.

A Systematic Review of Digital Deformities in Pediatric Patients and Their Podiatric Treatments.

Journal: Children (Basel, Switzerland)
Published: September 24, 2025

Skin Graftless Dorsal Metacarpal Island VY Advancement Flap versus Dorsal Rectangular Flap with Skin Grafting in 213 Simple Syndactyly Releases.

Skin Graftless Dorsal Metacarpal Island VY Advancement Flap versus Dorsal Rectangular Flap with Skin Grafting in 213 Simple Syndactyly Releases.

Journal: Plastic and reconstructive surgery
Published: September 23, 2025

ADAMTSL4 ectopia lentis associated with Poland syndrome: a case report.

ADAMTSL4 ectopia lentis associated with Poland syndrome: a case report.

Journal: Ophthalmic genetics
Published: September 23, 2025

Optimising anaesthetic management during fronto-orbital advancement in an infant with Apert syndrome.

Optimising anaesthetic management during fronto-orbital advancement in an infant with Apert syndrome.

Journal: BMJ case reports
Published: September 15, 2025
Showing 1-12 of 5,526

Last Updated: 01/07/2026