Showing results (51-60 of 79) with videos related to

Sort By:
Pageof 8
Clinical Genetics|May 9, 2025
Identification of a De Novo Heterozygous Frameshift Variant in FMR1 in a Female With Fragile X SyndromeAlejandro Parra, Juan A Jimenez-Estrada, Valeria Vásquez-Amell, et al.
American Journal of Human Genetics|September 9, 2022
Mutations in SCNM1 cause orofaciodigital syndrome due to minor intron splicing defects affecting primary ciliaAsier Iturrate, Ana Rivera-Barahona, Carmen-Lisset Flores, et al.
Clinical Cancer Research : an Official Journal of the American Association for Cancer Research|November 14, 2024
A Phase III Randomized Trial of Integrated Genomics and Avatar Models for Personalized Treatment of Pancreatic Cancer: The AVATAR TrialFrancesca Sarno, Jair Tenorio, Sofia Perea, 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.
Clinical Epigenetics|April 26, 2026
Investigation of multilocus imprinting disturbance (MLID) in 101 Beckwith-Wiedemann spectrum patientsMario Cazalla, Alejandro Parra, Carlos Rodríguez-Antolín, et al.
Clinical Epigenetics|June 1, 2022
Novel genetic variants of KHDC3L and other members of the subcortical maternal complex associated with Beckwith-Wiedemann syndrome or Pseudohypoparathyroidism 1B and multi-locus imprinting disturbancesLaura Pignata, Francesco Cecere, Ankit Verma, et al.
Genes|October 28, 2023
Seven Additional Patients with SOX17 Related Pulmonary Arterial Hypertension and Review of the LiteratureNatalia Gallego-Zazo, Lucía Miranda-Alcaraz, Alejandro Cruz-Utrilla, et al.
Genes|June 28, 2023
Clinical Heterogeneity and Different Phenotypes in Patients with SETD2 Variants: 18 New Patients and Review of the LiteratureAlejandro Parra, Rachel Rabin, John Pappas, et al.
Clinical Genetics|January 23, 2026
Chromosomal Rearrangements Identified in Three Additional Patients With Generalized Congenital Hypertrichosis With Gingival Hyperplasia Involving the 17q24.2-q24.3 LocusJair Tenorio-Castano, Marta Feito, Raúl de Lucas, et al.
European Journal of Human Genetics : EJHG|March 26, 2026
Expanding the genetic burden of low-evidence genes in pulmonary arterial hypertensionLucía Miranda-Alcaraz, Mónica Mora-Gómez, Natalia Gallego-Zazo, et al.
Pageof 8