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Genetics and Molecular Biology|April 26, 2014
Impact of NGS in the medical sciences: Genetic syndromes with an increased risk of developing cancer as an example of the use of new technologiesPablo Lapunzina, Rocío Ortiz López, Lara Rodríguez-Laguna, et al.Pediatric Dermatology|January 22, 2005
Alagille syndrome: cutaneous manifestations in 38 childrenMaria Amelia Garcia, Margarita Ramonet, Mirta Ciocca, et al.Neuropharmacology|July 24, 2017
P2X receptors up-regulate the cell-surface expression of the neuronal glycine transporter GlyT2Lucía Villarejo-López, Esperanza Jiménez, David Bartolomé-Martín, 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.HLA|August 2, 2023
HLA-A*11:01 and HLA-C*04:01 are associated with severe COVID-19Patricia Castro-Santos, Augusto Rojas-Martinez, José A Riancho, et al.The Application of Clinical Genetics|August 24, 2019
First report case with negative genetic study (array CGH, exome sequencing) in patients with vertical transmission of Zika virus infection and associated brain abnormalitiesEstephania Candelo, Gabriela Caicedo, Fernando Rosso, et al.Clinical Genetics|February 2, 2021
TBL1XR1 associated intellectual disability, a new missense variant with dysmorphic features plus autism: Expanding the phenotypic spectrumIgnacio Arroyo Carrera, Miguel Fernández-Burriel, Pablo Lapunzina, et al.Anales De Pediatria|January 28, 2020
[New mutations associated with Hirschsprung disease]Marta Lorente-Ros, Ane Miren Andrés, Alba Sánchez-Galán, et al.Anales De Pediatria|June 7, 2021
New mutations associated with Hirschsprung diseaseMarta Lorente-Ros, Ane Miren Andrés, Alba Sánchez-Galán, 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.Pageof 25