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American Journal of Medical Genetics. Part A|December 1, 2012
A novel mutation in CDKN1C in sibs with Beckwith-Wiedemann syndrome and cleft palate, sensorineural hearing loss, and supernumerary flexion creasesPiranit Nik Kantaputra, Rekwan Sittiwangkul, Nuntigar Sonsuwan, et al.
Orphanet Journal of Rare Diseases|September 21, 2014
Simpson-Golabi-Behmel syndrome types I and IIJair Tenorio, Pedro Arias, Víctor Martínez-Glez, et al.
Genes|October 28, 2023
A Spanish Family with Gordon Syndrome Due to a Variant in the Acidic Motif of WNK1Ramón Peces, Carlos Peces, Laura Espinosa, et al.
Genes|April 26, 2025
Development of a k-Nearest Neighbors Model for the Prediction of Late-Onset Alzheimer's Risk by Combining Polygenic Risk Scores and Phenotypic VariablesSandra Ferreiro López, Rosana Ferrero, Jorge Blom-Dahl, et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics|May 17, 2021
The portrayal of dwarfism without skeletal dysplasia in art: Proportionate short stature due to growth hormone deficiency and other disordersPablo Lapunzina, Jair Tenorio-Castaño, Julián Nevado, et al.
Genes|August 26, 2023
Cognitive-Behavioral Profile in Pediatric Patients with Syndrome 5p-; Genotype-Phenotype CorrelationshipsCristina Bel-Fenellós, Chantal Biencinto-López, Belén Sáenz-Rico, et al.
Case Reports in Genetics|February 17, 2017
Costello Syndrome and Umbilical Ligament Rhabdomyosarcoma in Two Pediatric Patients: Case Reports and Review of the LiteratureCarlos Sánchez-Montenegro, Alejandra Vilanova-Sánchez, Saturnino Barrena-Delfa, et al.
Scientific Reports|September 16, 2020
Characterization of rare ABCC8 variants identified in Spanish pulmonary arterial hypertension patientsMauro Lago-Docampo, Jair Tenorio, Ignacio Hernández-González, et al.
Cells|November 27, 2021
Expanding the Evidence of a Semi-Dominant Inheritance in GDF2 Associated with Pulmonary Arterial HypertensionNatalia Gallego, Alejandro Cruz-Utrilla, Inmaculada Guillén, et al.
Medicina|April 29, 2024
[Multiple endocrine neoplasia and very early onset inflammatory bowel disease. An unexpected association]Santiago I Rossi, Silvia Baleani, Ximena Prado, et al.
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