Neus Baena

Sabadell, CT, Spain

Last Updated: 09/26/2026

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Found 21 publications

Novel 14q32.2 paternal deletion encompassing the whole DLK1 gene associated with Temple syndrome.

Novel 14q32.2 paternal deletion encompassing the whole DLK1 gene associated with Temple syndrome.

Journal: Clinical epigenetics

Published: October 12, 2023

Case report: Identification of a novel variant p.Gly215Arg in the CHN1 gene causing Moebius syndrome.

Case report: Identification of a novel variant p.Gly215Arg in the CHN1 gene causing Moebius syndrome.

Journal: Frontiers in genetics

Published: September 08, 2023

Genetic testing for familial hyperparathyroidism: clinical-genetic profile in a Mediterranean cohort.

Genetic testing for familial hyperparathyroidism: clinical-genetic profile in a Mediterranean cohort.

Journal: Frontiers in endocrinology

Published: June 22, 2023

High Performance of a Dominant/X-Linked Gene Panel in Patients with Neurodevelopmental Disorders.

High Performance of a Dominant/X-Linked Gene Panel in Patients with Neurodevelopmental Disorders.

Journal: Genes

Published: February 16, 2023

Novel germline variants of CDKN1B and CDKN2C identified during screening for familial primary hyperparathyroidism.

Novel germline variants of CDKN1B and CDKN2C identified during screening for familial primary hyperparathyroidism.

Journal: Journal of endocrinological investigation

Published: March 18, 2022

Genetic study in primary hyperparathyroidism: Which patients and which genes to study?

Genetic study in primary hyperparathyroidism: Which patients and which genes to study?

Journal: Endocrinologia, diabetes y nutricion

Published: January 17, 2022

New genes involved in Angelman syndrome-like: Expanding the genetic spectrum.

New genes involved in Angelman syndrome-like: Expanding the genetic spectrum.

Journal: PloS one

Published: November 10, 2020

Mutational spectrum by phenotype: panel-based NGS testing of patients with clinical suspicion of RASopathy and children with multiple café-au-lait macules.

Mutational spectrum by phenotype: panel-based NGS testing of patients with clinical suspicion of RASopathy and children with multiple café-au-lait macules.

Journal: Clinical genetics

Published: July 17, 2019

Correction: Arterial tortuosity syndrome: 40 new families and literature review.

Correction: Arterial tortuosity syndrome: 40 new families and literature review.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: September 12, 2018

Identification of a de novo splicing variant in the Coffin-Siris gene, SMARCE1, in a patient with Angelman-like syndrome.

Identification of a de novo splicing variant in the Coffin-Siris gene, SMARCE1, in a patient with Angelman-like syndrome.

Journal: Molecular genetics & genomic medicine

Published: July 02, 2018

Neurodevelopmental risk copy number variants in adults with intellectual disabilities and comorbid psychiatric disorders.

Neurodevelopmental risk copy number variants in adults with intellectual disabilities and comorbid psychiatric disorders.

Journal: The British journal of psychiatry : the journal of mental science

Published: April 26, 2018

High Incidence of Copy Number Variants in Adults with Intellectual Disability and Co-morbid Psychiatric Disorders.

High Incidence of Copy Number Variants in Adults with Intellectual Disability and Co-morbid Psychiatric Disorders.

Journal: Behavior genetics

Published: May 09, 2017

Showing 1-12 of 21

Last Updated: 09/26/2026