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Genes|June 2, 2021
Expanding the Phenotypic Spectrum of PAX6 Mutations: From Congenital Cataracts to NystagmusMaria Nieves-Moreno, Susana Noval, Jesus Peralta, et al.
Pediatric Dermatology|February 12, 2020
Skin and nails abnormalities in a patient with ZTTK syndrome and a de novo mutation in SONLucía Quintana Castanedo, Alba Sánchez Orta, Rocío Maseda Pedrero, et al.
Human Mutation|January 4, 2020
Further delineation of putative ACTB loss-of-function variants: A 4-patient seriesMatthias Baumann, Erin M Beaver, María Palomares-Bralo, et al.
Clinical Genetics|July 30, 2022
The recurrent TCF4 missense variant p.(Arg389Cys) causes a neurodevelopmental disorder overlapping with but not typical for Pitt-Hopkins syndromeBernt Popp, Thierry Bienvenu, Irina Giurgea, et al.
Anales De Pediatria|November 7, 2025
Rapid genome sequencing in neonatal and pediatric intensive care units. Evidence and current situationMarta Pacio Miguez, Sixto García-Miñaúr, Ángela Del Pozo, et al.
American Journal of Medical Genetics. Part A|December 11, 2020
Delineation of the clinical and radiological features of Stuve-Wiedemann syndrome childhood survivors, four new cases and review of the literatureSofía M Siccha, Anna María Cueto, Manuel Parrón-Pajares, et al.
American Journal of Medical Genetics. Part A|July 2, 2022
Broadening the phenotypic spectrum of EVEN-PLUS syndrome through identification of HSPA9 pathogenic variants in the original EVE dysplasia family and two sibs with milder facial phenotypeMarta Pacio-Miguez, Manuel Parrón-Pajares, Christopher T Gordon, et al.
Genetics and Molecular Biology|April 26, 2014
New microdeletion and microduplication syndromes: A comprehensive reviewJulián Nevado, Rafaella Mergener, María Palomares-Bralo, et al.
Cancers|April 1, 2020
A Novel Role for the Tumor Suppressor Gene ITF2 in Tumorigenesis and Chemotherapy ResponseOlga Pernía, Ana Sastre-Perona, Carlos Rodriguez-Antolín, et al.
Plos One|August 29, 2015
Array CGH Analysis of Paired Blood and Tumor Samples from Patients with Sporadic Wilms TumorLeila Cabral de Almeida Cardoso, Lara Rodriguez-Laguna, María Del Carmen Crespo, et al.
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