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Neuropediatrics|July 14, 2022
Clinical Findings on Chromosome 1 Copy Number VariationsFilipa Leitão, Ana Grangeia, Joel Pinto, et al.
Journal of Assisted Reproduction and Genetics|January 3, 2021
Deregulation of imprinted genes expression and epigenetic regulators in placental tissue from intrauterine growth restrictionCarla Caniçais, Sara Vasconcelos, Carla Ramalho, et al.
Journal of Assisted Reproduction and Genetics|July 3, 2014
Relevance of genomic imprinting in intrauterine human growth expression of CDKN1C, H19, IGF2, KCNQ1 and PHLDA2 imprinted genesAmilcar Cordeiro, Ana Paula Neto, Filipa Carvalho, et al.
BMC Medical Genomics|January 5, 2020
12q14 microduplication: a new clinical entity reciprocal to the microdeletion syndrome?Sofia Dória, Daniela Alves, Maria João Pinho, et al.
Epigenetics & Chromatin|June 10, 2025
DNA methylation mechanisms in the maturing and ageing oocyteCarla Caniçais, Sara Vasconcelos, Fátima Santos, et al.
Seizure|January 26, 2024
Impact of copy number variants in epilepsy plus neurodevelopment disordersSofia João, Rita Quental, Joel Pinto, et al.
Epileptic Disorders : International Epilepsy Journal with Videotape|May 12, 2012
Late-onset Lennox-Gastaut syndrome as a phenotype of 15q11.1q13.3 duplicationJoão Rocha, Cátia Guerra, Renata Oliveira, et al.
Sao Paulo Medical Journal = Revista Paulista De Medicina|December 23, 2008
Clinicopathological features of 45,X/46,Xidic(Y) mosaicism and therapeutic implications: case reportHenrique Soares, Ana Maia, Miguel Campos, et al.
JBRA Assisted Reproduction|December 17, 2024
Genetic study on candidates for oocyte donationSara Araújo, Ana Paula Neto, Maria João Pinho, et al.
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