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European Journal of Human Genetics : EJHG|October 29, 2015
Prenatal molecular testing for Beckwith-Wiedemann and Silver-Russell syndromes: a challenge for molecular analysis and genetic counselingThomas Eggermann, Frédéric Brioude, Silvia Russo, et al.European Journal of Human Genetics : EJHG|November 6, 2019
Further delineation of neuropsychiatric findings in Tatton-Brown-Rahman syndrome due to disease-causing variants in DNMT3A: seven new patientsJair Tenorio, Pablo Alarcón, Pedro Arias, et al.Clinical Epigenetics|November 8, 2022
First step towards a consensus strategy for multi-locus diagnostic testing of imprinting disordersDeborah Mackay, Jet Bliek, Masayo Kagami, et al.American Journal of Medical Genetics. Part A|January 28, 2017
Molecular and clinical analysis of ALPL in a cohort of patients with suspicion of HypophosphatasiaJair Tenorio, Ignacio Álvarez, Leyre Riancho-Zarrabeitia, et al.Human Mutation|September 25, 2019
Heterozygous pathogenic variants in GLI1 are a common finding in isolated postaxial polydactyly A/BAdrián Palencia-Campos, María-Luisa Martínez-Fernández, Umut Altunoglu, et al.Clinical Epigenetics|August 1, 2024
Multi-locus imprinting disturbance (MLID): interim joint statement for clinical and molecular diagnosisDeborah J G Mackay, Gabriella Gazdagh, David Monk, et al.Journal of Medical Genetics|March 26, 2024
Variant characterisation and clinical profile in a large cohort of patients with Ellis-van Creveld syndrome and a family with Weyers acrofacial dysostosisUmut Altunoglu, Adrian Palencia-Campos, Nilay Güneş, et al.Ebiomedicine|April 19, 2021
Epigenome-wide association study of COVID-19 severity with respiratory failureManuel Castro de Moura, Veronica Davalos, Laura Planas-Serra, et al.Human Mutation|September 9, 2014
A new overgrowth syndrome is due to mutations in RNF125Jair Tenorio, Alicia Mansilla, María Valencia, et al.Genes|June 2, 2021
Schuurs-Hoeijmakers Syndrome (PACS1 Neurodevelopmental Disorder): Seven Novel Patients and a ReviewJair Tenorio-Castaño, Beatriz Morte, Julián Nevado, et al.Pageof 8