Loreto Martorell

Has grant

Head of Department

Fundació Sant Joan de Déu

Spain

Research Interests

Explore related searches

Professors in Spain Professors in Medical Science Medical Science professors in Spain

Contact this professor

Get a free first email built on one of their papers, ready for you to edit and send yourself.

About

Loreto Martorell is the Head of Department at Hospital Sant Joan de Déu, Spain. His research focuses on genetic disorders, particularly in the areas of hereditary hearing loss, neurodevelopmental disorders, and congenital myopathies. Recent publications include studies on complex gene rearrangements, pharmacokinetic analyses, and the identification of copy-number variants in various patient populations.

Recent Grants

Grant: Close

Validación de la dosis única diaria de isoniazida a 10mg/kg de peso en el lactante menor de 3 meses de vida.

Open Date: 2014-01-01

Close Date: 2018-01-01

Grant: Close

Caracterización fenotípica y molecular del síndrome de deficiencia de coenzima Q

Open Date: 2012-01-01

Close Date: 2015-01-01

Grant: Close

Infarto cerebral neonatal: una investigación multidisciplinar sobre factores patogénicos, nuevos indicadores diagnósticos y pronósticos, e impacto sobre el neurodesarrollo y la calidad de vida.

Open Date: 2008-01-01

Close Date: 2011-01-01

Grant: Close

Diagnostico, tratamiento y seguimiento de los defectos primarios y secundarios de la síntesis de aminas biógenas y pterinas en pacientes pediátricos con encefalopatías no filiadas

Open Date: 2005-01-01

Close Date: 2007-01-01

Grant: Close

Caracterización molecular del gen ZNF9 en pacientes con la enfermedad de PROMM o Distrofia Miotónica tipo 2 (DM2). Estudio de la región CCTG inestable y correlación fenotipo-genotipo.

Open Date: 2004-01-01

Close Date: 2006-01-01

Articles (10)

Year:

2025

Year:

2025

Year:

2025

Year:

2024

Year:

2024

Year:

2024

Year:

2024

Year:

2024

Year:

2024

Year:

2023

Collaborators (3)

Maria Luisa Martinez-Fernandez

Instituto de Salud Carlos III

SPAIN

View details

Christian Korff

Head

University Hospital

SWITZERLAND

View details

Kirill A. Martemyanov

University of Florida

UNITED STATES

View details

ApplyKite TwinLearns as you apply

Make your next move.

Prepare your application

Review drafts before you send them.

Loreto Martorell

Research Interests

Explore related searches

Contact this professor

About

Recent Grants

Articles (10)

Refining the detection of complex rearrangements in 15q15.3 region involving the STRC gene in hereditary hearing loss patients

Connexin 30 (GJB6) deletion as a cause of a false positive sweat test result

Pharmacokinetic Analysis of an Isoniazid Suspension Among Spanish Children Under 6 Years of Age

Identification of copy-number variants in patients with overgrowth disorders.

Genetic and phenotypic findings in 34 novel Spanish patients with <scp><i>DDX3X</i></scp> neurodevelopmental disorder

Developmental and epileptic encephalopathy 56 due to YWHAG variants: 12 new cases and review of the literature

Atypical Mowat‐Wilson Syndrome: Dystonia, Choreoathetosis and Cognitive Features

Advancing the Understanding of Vesicle-Associated Membrane Protein 1-Related Congenital Myasthenic Syndrome: Phenotypic Insights, Favorable Response to 3,4-Diaminopyridine, and Clinical Characterization of Five New Cases.

Improving Diagnostic Precision: Phenotype-Driven Analysis Uncovers a Maternal Mosaicism in an Individual with RYR1-Congenital Myopathy.

Severity of GNAO1‐Related Disorder Correlates with Changes in G‐Protein Function

Collaborators (3)

Maria Luisa Martinez-Fernandez

Christian Korff

Kirill A. Martemyanov

Make your next move.