J. Cruz-Rojo

发表

What to consider when pseudohypoparathyroidism is ruled out: iPPSD and differential diagnosis

B. Gener, E. Anda, R. Rodríguez-López, 2018, BMC Medical Genetics.

International comparisons of laboratory values from the 4CE collaborative to predict COVID-19 mortality

Jason W. Moore, Brett K. Beaulieu-Jones, Florence T. Bourgeois, 2022, npj Digital Medicine.

Does opening a milk bank in a neonatal unit change infant feeding practices? A before and after study

C. P. Pallás Alonso, J. Cruz-Rojo, M. I. Utrera Torres, 2010, International breastfeeding journal.

Primary Immune Regulatory Disorders With an Autoimmune Lymphoproliferative Syndrome-Like Phenotype: Immunologic Evaluation, Early Diagnosis and Management

O. Cabrera-Marante, E. Paz-Artal, D. Pleguezuelo, 2021, Frontiers in Immunology.

GATA4 Mutations Are a Cause of Neonatal and Childhood-Onset Diabetes

A. Hattersley, S. Ellard, C. Shaw-Smith, 2014, Diabetes.

Array-based characterization of an interstitial de-novo deletion of chromosome 4q in a patient with a neuronal migration defect and hypocalcemia plus a literature review.

M. Moreno-García, F. J. Fernández-Martínez, J. Sánchez del Pozo, 2012, Clinical dysmorphology.

Tumor-Induced Rickets in a Child With a Central Giant Cell Granuloma: A Case Report

J. Sánchez del Pozo, Y. Almadén, J. Cruz-Rojo, 2015, Pediatrics.

EDA, EDAR, EDARADD and WNT10A allelic variants in patients with ectodermal derivative impairment in the Spanish population

A. Torrelo, E. Guillén-Navarro, L. Noguera‐Morel, 2019, Orphanet Journal of Rare Diseases.

Clinical description, molecular delineation, and genotype-phenotype correlation in KBG syndrome: 67 new patients and review of the literature.

Lago, I. Mahillo, B. Gener, 2022, medRxiv.

Precipitating/aggravating factors of porphyria cutanea tarda in Spanish patients.

A. Fontanellas, M. Méndez, M. García-Bravo, 2002, Cellular and molecular biology.

Hospitalizations Associated With Mental Health Conditions Among Adolescents in the US and France During the COVID-19 Pandemic

Jason W. Moore, Brett K. Beaulieu-Jones, Florence T. Bourgeois, 2022, JAMA network open.

Mutations in TOP3A Cause a Bloom Syndrome-like Disorder

Robert W. Taylor, Y. Okazaki, H. Williams, 2018, American journal of human genetics.

Mutations in TOP3A Cause a Bloom Syndrome-like Disorder

Robert W. Taylor, Y. Okazaki, H. Williams, 2024, American journal of human genetics.

First female with Allan-Herndon-Dudley syndrome and partial deletion of X-inactivation center

J. Gallego-Merlo, I. Gómez-Manjón, M. Moreno-García, 2021, neurogenetics.

A New Case of Congenital Malabsorptive Diarrhea and Diabetes Secondary to Mutant Neurogenin-3

N. Cerf-Bensussan, J. M. Moreno-Villares, M. Germán-Díaz, 2017, Pediatrics.

Moebius-Poland syndrome and hypogonadotropic hypogonadism

J. Sánchez del Pozo, J. Cruz-Rojo, D. López de Lara, 2007, European Journal of Pediatrics.

The p.R56* mutation in PTHLH causes variable brachydactyly type E

G. Perez de Nanclares, J. Sánchez del Pozo, I. Garin, 2017, American journal of medical genetics. Part A.

A rare male patient with Fontaine progeroid syndrome caused by p.R217H de novo mutation in SLC25A24

F. Martínez-Azorín, J. Cruz-Rojo, Jaime Sánchez del Pozo, 2018, American journal of medical genetics. Part A.

Long-term kidney function recovery and mortality after COVID-19-associated acute kidney injury: An international multi-centre observational cohort study

Jason W. Moore, Brett K. Beaulieu-Jones, Florence T. Bourgeois, 2022, eClinicalMedicine.

Outcomes and patterns of treatment in chronic myeloid leukemia, a global perspective based on a real-world data global network

R. Ayala, G. Carreño-Tarragona, D. Pérez-Rey, 2022, Blood Cancer Journal.

Obtaining EHR-derived datasets for COVID-19 research within a short time: a flexible methodology based on Detailed Clinical Models

J. L. Cruz-Bermúdez, E. A. López-Jiménez, J. Cruz-Rojo, 2021, Journal of Biomedical Informatics.

Clinical characterization of a girl with trisomy 20q13.2qter and monosomy 13q33.1qter: Delineating phenotype–genotype correlations

M. Moreno-García, J. S. del Pozo, I. Garin, 2010, American journal of medical genetics. Part A.

Making EHRs Trustable: A Quality Analysis of EHR-Derived Datasets for COVID-19 Research

José Luis Bernal, L. Merson, J. Aguado, 2022, Medical Informatics Europe.

High prevalence of variants in skeletal dysplasia associated genes in individuals with short stature and minor skeletal anomalies.

F. Santos-Simarro, J. Nevado, C. de la Torre, 2021, European journal of endocrinology.

Clinical description, molecular delineation and genotype–phenotype correlation in 340 patients with KBG syndrome: addition of 67 new patients

Lago, I. Mahillo, B. Gener, 2022, Journal of Medical Genetics.

Mutations in TOP3A Cause a Bloom Syndrome-like Disorder

Y. Okazaki, H. Williams, M. Dattani, 2018, American journal of human genetics.

The Human Phenotype Ontology in 2024: phenotypes around the world

Benjamin M. Gyori, Julius O. B. Jacobsen, Janice M. Fullerton, 2023, Nucleic acids research.

CORRECTION Mutations in TOP3A Cause a Bloom Syndrome-like Disorder

M. Dattani, J. Surrallés, M. Bogliolo, 2022 .