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Last Updated: 10/31/2025

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Found 7198 publications

Quadruple the Considerations: Four Genetic Conditions Unveiled in the Setting of Developmental Delays Including a Complex DMD Rearrangement, Telomere Biology Disorder, and Neurodevelopmental Disorders.

Quadruple the Considerations: Four Genetic Conditions Unveiled in the Setting of Developmental Delays Including a Complex DMD Rearrangement, Telomere Biology Disorder, and Neurodevelopmental Disorders.

Journal: Journal of child neurology
Published: October 15, 2025

Novel Filamin genes variants implicated in skeletal dysplasias: integrated structural modeling and in silico functional characterization.

Novel Filamin genes variants implicated in skeletal dysplasias: integrated structural modeling and in silico functional characterization.

Journal: Journal of biomolecular structure & dynamics
Published: October 14, 2025

Mandibular Distraction Osteogenesis in Toddlers with Hemifacial Microsomia: A Five-Year Follow-Up of a Prospective Cohort Trial.

Mandibular Distraction Osteogenesis in Toddlers with Hemifacial Microsomia: A Five-Year Follow-Up of a Prospective Cohort Trial.

Journal: Plastic and reconstructive surgery
Published: October 14, 2025

Analysis of Craniofacial Microsomia and Facial Asymmetry: Approaches in Facial Feminization Surgery.

Analysis of Craniofacial Microsomia and Facial Asymmetry: Approaches in Facial Feminization Surgery.

Journal: Aesthetic surgery journal
Published: October 10, 2025

Contributing Factors for Angle's Class III Phenotype in Crouzon Syndrome.

Contributing Factors for Angle's Class III Phenotype in Crouzon Syndrome.

Journal: European journal of paediatric dentistry
Published: October 07, 2025

The Great Escape: A Case Series on DDX3X Craniofacial Phenotypes in Females.

The Great Escape: A Case Series on DDX3X Craniofacial Phenotypes in Females.

Journal: The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association
Published: October 03, 2025

Nevoid Basal Cell Carcinoma Syndrome Associated With Cleft Lip and Palate: A Case Report and Literature Review.

Nevoid Basal Cell Carcinoma Syndrome Associated With Cleft Lip and Palate: A Case Report and Literature Review.

Journal: The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association
Published: September 19, 2025

Low-Density Instrumentation for Scoliosis Correction in Monozygotic Twins With Treacher Collins Syndrome: A Case Report.

Low-Density Instrumentation for Scoliosis Correction in Monozygotic Twins With Treacher Collins Syndrome: A Case Report.

Journal: JBJS case connector
Published: September 18, 2025

Diagnosis of Lissencephaly in a Neonate After Antenatal Polyhydramnios and Suspicion of Fetal Esophageal Atresia: A Case Report.

Diagnosis of Lissencephaly in a Neonate After Antenatal Polyhydramnios and Suspicion of Fetal Esophageal Atresia: A Case Report.

Journal: Cureus
Published: September 17, 2025

A Further Case Supporting CCNK as a Neurodevelopmental Disease Gene.

A Further Case Supporting CCNK as a Neurodevelopmental Disease Gene.

Journal: Clinical genetics
Published: September 14, 2025

A Case of CHARGE Syndrome with a Novel Intronic Variant in the CHD7 Gene.

A Case of CHARGE Syndrome with a Novel Intronic Variant in the CHD7 Gene.

Journal: Journal of clinical research in pediatric endocrinology
Published: September 05, 2025

Mental Health Needs in Patients With Communication Deficits and Chronic Health Needs: A Case of a Teenager With Goldenhar Syndrome.

Mental Health Needs in Patients With Communication Deficits and Chronic Health Needs: A Case of a Teenager With Goldenhar Syndrome.

Journal: Cureus
Published: September 05, 2025
Showing 1-12 of 7,198

Last Updated: 10/31/2025