J. Quesada-Espinosa

发表

Adult‐onset nemaline myopathy due to a novel homozygous variant in the TNNT1 gene

A. Hernández-Laín, M. Olivé, C. Domínguez-González, 2022, Muscle & nerve.

Novel Germline TET2 Mutations in Two Unrelated Patients with Autoimmune Lymphoproliferative Syndrome-Like Phenotype and Hematologic Malignancy

C. Muñoz‐Calleja, O. Cabrera-Marante, E. Paz-Artal, 2022, Journal of Clinical Immunology.

Fragile X Syndrome Caused by Maternal Somatic Mosaicism of FMR1 Gene: Case Report and Literature Review

I. Gómez-Manjón, M. Moreno-García, M. Morales-Conejo, 2022, Genes.

P. Ortiz-Romero, S. Palencia-Pérez, F. Tous-Romero, 2018, Journal der Deutschen Dermatologischen Gesellschaft = Journal of the German Society of Dermatology : JDDG.

Towards a Change in the Diagnostic Algorithm of Autism Spectrum Disorders: Evidence Supporting Whole Exome Sequencing as a First-Tier Test

Alejandro Segura-Tudela, I. Gómez-Manjón, M. Moreno-García, 2021, Genes.

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.

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.

Early-Onset Dementia Associated with a Heterozygous, Nonsense, and de novo Variant in the MBD5 Gene.

J. González de la Aleja, J. López-Álvarez, S. Llamas-Velasco, 2021, Journal of Alzheimer's disease : JAD.

Heterozygous and Homozygous Variants in SORL1 Gene in Alzheimer’s Disease Patients: Clinical, Neuroimaging and Neuropathological Findings

E. Carro, E. Gómez-Tortosa, D. Pérez-Martínez, 2022, International journal of molecular sciences.

New Cerebellar Ataxia, Neuropathy, Vestibular Areflexia Syndrome cases are caused by the presence of a nonsense variant in compound heterozygosity with the pathogenic repeat expansion in the RFC1 gene

Juan Francisco González Martínez, M. Cortón, A. Avila-Fernandez, 2022, Clinical genetics.

Alström syndrome: Two clinical cases with two novel pathogenic variants

A. Muñoz-Gallego, P. Tejada‐Palacios, J. Herranz-Heras, 2022, European journal of ophthalmology.

Integration of Phenotype Term Prioritization and Gene Expression Analysis Reveals a Novel Variant in the PERP Gene Associated with Autosomal Recessive Erythrokeratoderma

Miguel Ángel Martín, Á. Hernández-Martín, S. Palencia-Pérez, 2023, Genes.

Expanding the Phenotypic Spectrum of Alazami Syndrome: Two Unrelated Spanish Families

M. Fenollar-Cortés, M. Moreno-García, M. Gómez-Cano, 2022, Neuropediatrics.

Lethal Congenital Contracture Syndrome 11: A Case Report and Literature Review

J. L. Villanueva-Cañas, C. Badenas, M. Jodar, 2022, Journal of clinical medicine.

Hereditary cerebral small vessel disease: Assessment of a HTRA1 variant using protein stability predictors and 3D modelling.

C. P. Milla, S. Llamas-Velasco, M. Moreno-García, 2022, European journal of medical genetics.

Adult‐onset nemaline myopathy due to a novel homozygous variant in the TNNT1 gene

A. Hernández-Laín, M. Olivé, C. Domínguez-González, 2022, Muscle & nerve.

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.

Clinical and Genetic Analysis of Patients With TK2 Deficiency

C. Domínguez-González, A. Blázquez, J. Quesada-Espinosa, 2024, Neurology. Genetics.