Purificacion Reina-Marin

Valencia, VC 46026, Spain

Last Updated: 09/26/2026

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Found 20 publications

Clinical and Genetic Characterization of Esophageal Atresia: A Contemporary Cohort Integrating Phenotyping and Genomic Testing.

Clinical and Genetic Characterization of Esophageal Atresia: A Contemporary Cohort Integrating Phenotyping and Genomic Testing.

Journal: Genes

Published: February 19, 2026

A novel CEP57 gene mutation in mosaic variegated aneuploidy syndrome 2: case report.

A novel CEP57 gene mutation in mosaic variegated aneuploidy syndrome 2: case report.

Journal: Journal of pediatric endocrinology & metabolism : JPEM

Published: November 10, 2025

De novo EHMT2 variants cause an autosomal dominant EHMT2-related Kleefstra syndrome via loss of G9a methyltransferase activity.

De novo EHMT2 variants cause an autosomal dominant EHMT2-related Kleefstra syndrome via loss of G9a methyltransferase activity.

Journal: Nature communications

Published: September 23, 2025

Molecular genotype-phenotype correlation in ACTB- and ACTG1-related non-muscle actinopathies.

Molecular genotype-phenotype correlation in ACTB- and ACTG1-related non-muscle actinopathies.

Journal: American journal of human genetics

Published: July 17, 2025

Two novel mutations in TBC1D32 add complexity to the oro-facial-digital syndrome.

Two novel mutations in TBC1D32 add complexity to the oro-facial-digital syndrome.

Journal: Human genomics

Published: February 10, 2025

Pancreatic Malformation and Heterotaxy Syndrome Associated With 6q25.1 Haploinsufficiency.

Pancreatic Malformation and Heterotaxy Syndrome Associated With 6q25.1 Haploinsufficiency.

Journal: Pancreas

Published: August 07, 2024

Abdominal amniotic band syndrome: An unusual location.

Abdominal amniotic band syndrome: An unusual location.

Journal: Anales de pediatria

Published: October 18, 2023

Expanding the phenotype of PIGP deficiency to multiple congenital anomalies-hypotonia-seizures syndrome.

Expanding the phenotype of PIGP deficiency to multiple congenital anomalies-hypotonia-seizures syndrome.

Journal: Clinical genetics

Published: March 06, 2023

Metabolic dysregulation in term infants from SARS-CoV-2-infected mothers.

Metabolic dysregulation in term infants from SARS-CoV-2-infected mothers.

Journal: World journal of pediatrics : WJP

Published: February 15, 2023

Referral criteria to clinical genetics from primary care: Consensus document

Referral criteria to clinical genetics from primary care: Consensus document

Journal: Atencion primaria

Published: July 22, 2022

Achondroplasia: Update on diagnosis, follow-up and treatment.

Achondroplasia: Update on diagnosis, follow-up and treatment.

Journal: Anales de pediatria

Published: May 31, 2022

Further characterization of Borjeson-Forssman-Lehmann syndrome in females due to de novo variants in PHF6.

Further characterization of Borjeson-Forssman-Lehmann syndrome in females due to de novo variants in PHF6.

Journal: Clinical genetics

Published: March 21, 2022

Showing 1-12 of 20

Last Updated: 09/26/2026