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Last Updated: 10/31/2025

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Found 2812 publications

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

Glomulin and cerebral cavernous malformations 2 protein-like mutations in an extensive blaschkoid glomuvenous malformation with polydactyly.

Glomulin and cerebral cavernous malformations 2 protein-like mutations in an extensive blaschkoid glomuvenous malformation with polydactyly.

Journal: JAAD case reports
Published: September 02, 2025

Two cases of skeletal ciliopathies in one family

Two cases of skeletal ciliopathies in one family

Journal: Zeitschrift fur Geburtshilfe und Neonatologie
Published: August 01, 2025

Novel KIAA0825 Variants Underlie Nonsyndromic Postaxial Polydactyly.

Novel KIAA0825 Variants Underlie Nonsyndromic Postaxial Polydactyly.

Journal: Genes
Published: July 24, 2025

Bardet-Biedl syndrome: a multisystem disorder with rare dermatological manifestations.

Bardet-Biedl syndrome: a multisystem disorder with rare dermatological manifestations.

Journal: JPMA. The Journal of the Pakistan Medical Association..
Published: July 23, 2025

Exploring Prenatal Signs of Congenital Lipomatous Overgrowth, Vascular Malformations, Epidermal Nevi, and Skeletal Anomalies (CLOVES) Syndrome: A Case Report and Literature Review.

Exploring Prenatal Signs of Congenital Lipomatous Overgrowth, Vascular Malformations, Epidermal Nevi, and Skeletal Anomalies (CLOVES) Syndrome: A Case Report and Literature Review.

Journal: Cureus
Published: July 18, 2025

Enhancer Poising Enables Pathogenic Gene Activation by Noncoding Variants.

Enhancer Poising Enables Pathogenic Gene Activation by Noncoding Variants.

Journal: bioRxiv : the preprint server for biology
Published: July 16, 2025

Compound heterozygous missense and intronic variants in B9D1 contribute to a recurrent Meckel syndrome pedigree.

Compound heterozygous missense and intronic variants in B9D1 contribute to a recurrent Meckel syndrome pedigree.

Journal: Frontiers in genetics
Published: July 10, 2025

Analysis of the Body Mass Index of Latino Patients With Bardet-Biedl Syndrome.

Analysis of the Body Mass Index of Latino Patients With Bardet-Biedl Syndrome.

Journal: Cureus
Published: June 25, 2025

Erratum: Ulnar Longitudinal Deficiency with Postaxial Polydactyly: A Case Report.

Erratum: Ulnar Longitudinal Deficiency with Postaxial Polydactyly: A Case Report.

Journal: JBJS case connector
Published: June 19, 2025

Biallelic INTU variants define a ciliopathy disorder characterized by orofacial, digital and cardiac anomalies.

Biallelic INTU variants define a ciliopathy disorder characterized by orofacial, digital and cardiac anomalies.

Journal: HGG advances
Published: June 16, 2025

Radiographic characteristics of epiphyseal ossification centres of the thumb in patients with radial polydactyly.

Radiographic characteristics of epiphyseal ossification centres of the thumb in patients with radial polydactyly.

Journal: The Journal of hand surgery, European volume
Published: June 12, 2025
Showing 1-12 of 2,812

Last Updated: 10/31/2025