Ceu R. Mota - Publications

ACAN-related short stature with an incidental ALPL variant: a case report.

Journal: Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology

Published: November 11, 2025

Ambiguous Genitalia: An Unexpected Diagnosis in a Newborn.

Journal: Cureus

Published: September 30, 2023

A method to produce a flexible and customized fuel models dataset.

Journal: MethodsX

Published: January 02, 2023

A Neonatal Abdominal Wall Defect.

Journal: NeoReviews

Published: September 01, 2022

Preterm Infant with Craniofacial Dysmorphic Features and Posture.

Journal: NeoReviews

Published: March 01, 2022

Partial tetrasomy 18 mosaicism: Pre and postnatal diagnosis of a unique pattern.

Journal: Taiwanese journal of obstetrics & gynecology

Published: October 17, 2021

Cross-cutting view of current challenges in paediatric solid organ and haematopoietic stem cell transplantation in Europe: the European Reference Network TransplantChild.

Journal: Orphanet journal of rare diseases

Published: October 09, 2019

Genomic imbalances defining novel intellectual disability associated loci.

Journal: Orphanet journal of rare diseases

Published: January 16, 2019

Dietary management of maternal phenylketonuria with glycomacropeptide and amino acids supplements: A case report.

Journal: Molecular genetics and metabolism reports

Published: August 05, 2017

Absence of IFNγ promotes hippocampal plasticity and enhances cognitive performance.

Journal: Translational psychiatry

Published: September 29, 2015

A Novel Noonan Syndrome RAF1 Mutation: Lethal Course in a Preterm Infant.

Journal: Pediatric reports

Published: April 17, 2015

D-bifunctional protein deficiency: a cause of neonatal onset seizures and hypotonia.

Journal: Pediatric neurology

Published: November 11, 2014