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The American Journal of Case Reports|December 13, 2017
Phenotypic Variation in Patients with Homozygous c.1678G>T Mutation in EVC Gene: Report of Two Mexican Families with Ellis-van Creveld SyndromeMarisol Ibarra-Ramirez, Luis Daniel Campos-Acevedo, Jose Lugo-Trampe, et al.
Genes|November 25, 2023
NGS Custom Panel Implementation in Patients with Non-Syndromic Autism Spectrum Disorders in the Clinical Routine of a Tertiary HospitalAna Karen Sandoval-Talamantes, Jair Antonio Tenorio-Castaño, Fernando Santos-Simarro, et al.
Clinical Genetics|September 30, 2025
Novel MBTPS1 Variants and Cutis Laxa Phenotype in the 8th Reported Case of Spondyloepiphyseal Dysplasia, Kondo-Fu TypeElsa Lucas-Castro, Francisca Diaz-González, Silvia Modamio-Høybjor, et al.
Archivos Argentinos De Pediatria|July 25, 2019
[Wolf-Hirschhorn syndrome. Description of five cases characterized by means of single nucleotide polymorphism microarrays]Francisco Cammarata-Scalisi, Raquel Blanco Lago, Pilar Barruz Galián, et al.
Genes|May 28, 2022
Description of Two New Cases of AQP1 Related Pulmonary Arterial Hypertension and Review of the LiteratureNatalia Gallego-Zazo, Alejandro Cruz-Utrilla, María Jesús Del Cerro, et al.
Revista Espanola De Cardiologia (English Ed.)|July 26, 2016
Molecular Analysis of BMPR2, TBX4, and KCNK3 and Genotype-Phenotype Correlations in Spanish Patients and Families With Idiopathic and Hereditary Pulmonary Arterial HypertensionPaula Navas, Jair Tenorio, Carlos Andrés Quezada, et al.
Plos Genetics|March 22, 2013
Microhomology-mediated mechanisms underlie non-recurrent disease-causing microdeletions of the FOXL2 gene or its regulatory domainHannah Verdin, Barbara D'haene, Diane Beysen, et al.
Communications Biology|February 20, 2024
Clonal chromosomal mosaicism and loss of chromosome Y in elderly men increase vulnerability for SARS-CoV-2Luis A Pérez-Jurado, Alejandro Cáceres, Laura Balagué-Dobón, et al.
American Journal of Medical Genetics. Part A|August 12, 2011
Adults with Sotos syndrome: review of 21 adults with molecularly confirmed NSD1 alterations, including a detailed case report of the oldest personMatthew R Fickie, Pablo Lapunzina, Jennifer K Gentile, et al.
Human Molecular Genetics|August 20, 2004
Reduced hepatic expression of farnesoid X receptor in hereditary cholestasis associated to mutation in ATP8B1Luis Alvarez, Paloma Jara, Elena Sánchez-Sabaté, et al.
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