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European Journal of Human Genetics : EJHG|October 30, 2014
Testis development in the absence of SRY: chromosomal rearrangements at SOX9 and SOX3Annalisa Vetro, Mohammad Reza Dehghani, Lilia Kraoua, et al.
Human Mutation|September 24, 2019
Deep-intronic variants in CNGB3 cause achromatopsia by pseudoexon activationNicole Weisschuh, Marc Sturm, Britta Baumann, et al.
Biopreservation and Biobanking|May 23, 2014
Pediatric biobanking: a pilot qualitative survey of practices, rules, and researcher opinions in ten European countriesElena Salvaterra, Roberto Giorda, Maria T Bassi, et al.
Development and Psychopathology|July 2, 2021
Prenatal maternal stress during the COVID-19 pandemic and infant regulatory capacity at 3 months: A longitudinal studyLivio Provenzi, Serena Grumi, Lilia Altieri, et al.
Human Genetics|October 3, 2018
De novo unbalanced translocations have a complex history/aetiologyMaria Clara Bonaglia, Nehir Edibe Kurtas, Edoardo Errichiello, et al.
Genes|February 25, 2022
Expanding Phenotype of Poirier-Bienvenu Syndrome: New Evidence from an Italian Multicentrical Cohort of PatientsAlessandro Orsini, Andrea Santangelo, Francesca Bravin, et al.
Nature Genetics|February 19, 2008
A recurrent 15q13.3 microdeletion syndrome associated with mental retardation and seizuresAndrew J Sharp, Heather C Mefford, Kelly Li, et al.
Plos Genetics|July 23, 2011
Molecular mechanisms generating and stabilizing terminal 22q13 deletions in 44 subjects with Phelan/McDermid syndromeMaria Clara Bonaglia, Roberto Giorda, Silvana Beri, et al.
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