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Revista Espanola De Cardiologia (English Ed.)|November 18, 2017
In-frame Variants in FLNA Proximal Rod 1 Domain Associate With a Predominant Cardiac Valvular PhenotypeLuis Fernández, Jair Tenorio, Coral Polo-Vaquero, et al.
The Journal of Investigative Dermatology|October 16, 2018
Mutations in PERP Cause Dominant and Recessive KeratodermaSabine Duchatelet, Lynn M Boyden, Akemi Ishida-Yamamoto, et al.
Clinical Genetics|March 13, 2019
Exome sequencing in Crisponi/cold-induced sweating syndrome-like individuals reveals unpredicted alternative diagnosesAndrea Angius, Paolo Uva, Manuela Oppo, et al.
International Journal of Molecular Sciences|June 12, 2014
Functional characterization of NIPBL physiological splice variants and eight splicing mutations in patients with Cornelia de Lange syndromeMaría E Teresa-Rodrigo, Juliane Eckhold, Beatriz Puisac, et al.
Cell|May 12, 2015
Disruptions of topological chromatin domains cause pathogenic rewiring of gene-enhancer interactionsDarío G Lupiáñez, Katerina Kraft, Verena Heinrich, et al.
American Journal of Medical Genetics. Part A|August 3, 2016
Clinical and molecular analyses of Beckwith-Wiedemann syndrome: Comparison between spontaneous conception and assisted reproduction techniquesJair Tenorio, Valeria Romanelli, Alex Martin-Trujillo, et al.
European Journal of Medical Genetics|September 9, 2021
Mosaic Variegated Aneuploidy syndrome 2 caused by biallelic variants in CEP57, two new cases and review of the phenotypeFernando Santos-Simarro, Marta Pacio, Anna María Cueto-González, et al.
Human Genetics|December 31, 2015
Spectrum of mutations and genotype-phenotype analysis in Noonan syndrome patients with RIT1 mutationsMasako Yaoita, Tetsuya Niihori, Seiji Mizuno, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|February 16, 2018
CLAPO syndrome: identification of somatic activating PIK3CA mutations and delineation of the natural history and phenotypeLara Rodriguez-Laguna, Kristina Ibañez, Gema Gordo, et al.
Orphanet Journal of Rare Diseases|March 16, 2023
Lifetime impact of achondroplasia study in Europe (LIAISE): findings from a multinational observational studyMohamad Maghnie, Oliver Semler, Encarna Guillen-Navarro, et al.
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