M. Moreno-García

发表

Utility of Exome Sequencing in A Familial Trio as A Diagnostic Tool in Cardiomyopathies

A. Delmiro, I. Gómez-Manjón, A. Moreno-Izquierdo, 2016 .

Application of QF‐PCR for the prenatal assessment of discordant monozygotic twins for fetal sex

A. Galindo, A. Moreno-Izquierdo, M. Moreno-García, 2007, Prenatal diagnosis.

First patient with mosaic NOTCH3 gene pathogenic variant. Unrevealed mosaicisms and importance of their detection

Juan Francisco Quesada Espinosa, M. Moreno-García, A. Méndez-Guerrero, 2020, American journal of medical genetics. Part A.

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.

Noninvasive fetal sex determination in maternal plasma: a prospective feasibility study

A. Galindo, A. Moreno-Izquierdo, M. Moreno-García, 2012, Genetics in Medicine.

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.

Chromosomal anomalies in cryptorchidism and hypospadias.

M. Moreno-García, E. B. Miranda, 2002, The Journal of urology.

Chromosomal anomalies in cryptorchidism and hypospadias.

M. Moreno-García, E. B. Miranda, 2002, The Journal of urology.

SRY-Positive 46,XX Male with Cryptorchidism as the Only Presenting Clinical Feature

M. Moreno-García, J. Sánchez del Pozo, B. Gil-Fournier, 2003, Urologia Internationalis.

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.

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.

Noninvasive Prenatal Testing: Comparison of Two Mappers and Influence in the Diagnostic Yield

A. Delmiro, S. Mayo, D. Escribano, 2018, BioMed research international.

Biallelic variants in genes previously associated with dominant inheritance: CACNA1A, RET and SLC20A2

Miguel Ángel Martín, M. Moreno-García, A. Arteche-López, 2021, European Journal of Human Genetics.

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.

Noninvasive Prenatal Detection of a Partial Trisomy 4 Using Whole Genome Semiconductor Sequencing

D. Escribano, I. Gómez-Manjón, A. Moreno-Izquierdo, 2016 .

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.

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

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

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.

A Novel Pathogenic Variant in the MN1 Gene in a Patient Presenting with Rhombencephalosynapsis and Craniofacial Anomalies, Expanding MN1 C-terminal Truncation Syndrome

I. Gómez-Manjón, M. Moreno-García, S. Vilà, 2020, Journal of Pediatric Genetics.