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Anales De Pediatria|September 17, 2022
Advances in clinical genetics and its current challengesFernando Santos Simarro
Clinical Medicine Insights. Pediatrics|May 4, 2013
Alport Syndrome: De Novo Mutation in the COL4A5 Gene Converting Glycine 1205 to ValinePilar Antón-Martín, Cristina Aparicio López, Soraya Ramiro-León, et al.
Molecular Genetics & Genomic Medicine|February 21, 2019
Severe congenital nephrogenic diabetes insipidus in a compound heterozygote with a new large deletion of the AQP2 gene. A case reportRamón Peces, Rocío Mena, Carlos Peces, et al.
International Journal of Molecular Sciences|May 27, 2023
<i>NOTCH1</i> Gene as a Novel Cause of Thoracic Aortic Aneurysm in Patients with Tricuspid Aortic Valve: Two Cases ReportedLaura Torres-Juan, Yolanda Rico, Elena Fortuny, et al.
Genes|June 2, 2021
Expanding the Phenotypic Spectrum of <i>PAX6</i> Mutations: From Congenital Cataracts to NystagmusMaria Nieves-Moreno, Susana Noval, Jesus Peralta, et al.
BMC Medical Genetics|March 7, 2018
Rubinstein-Taybi 2 associated to novel EP300 mutations: deepening the clinical and genetic spectrumMaría López, Alberto García-Oguiza, Judith Armstrong, et al.
Anales De Pediatria|November 21, 2025
Genetic counseling in pediatrics: Clinical implications and challenges in genomic medicineDiana Salinas Chaparro, Patricia Muñoz Cabello, Gema Escribano Serrano, 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.
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.
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