Showing results (11-20 of 24) with videos related to
Sort By:
Pageof 3
Pediatric Neurology|October 18, 2013
Autosomal recessive axonal neuropathy with neuromyotonia: a rare entityJoana Serra Caetano, Carmen Costa, Jonathan Baets, et al.ISRN Obstetrics and Gynecology|June 4, 2011
Accuracy of prenatal diagnosis in elective termination of pregnancy: 385 cases from 2000 to 2007Fabiana Ramos, Sofia Maia, Miguel Branco, et al.International Journal of Molecular Sciences|May 7, 2025
Medically Actionable Secondary Findings from Whole-Exome Sequencing (WES) Data in a Sample of 3972 IndividualsMafalda Melo, Mariana Ribeiro, Paulo Filipe Silva, et al.American Journal of Medical Genetics. Part A|August 17, 2013
Intellectual disability, unusual facial morphology and hand anomalies in sibsSérgio B Sousa, Margarida Venâncio, Estelle Chanudet, et al.European Journal of Medical Genetics|June 4, 2017
Recurrent elevated liver transaminases and acute liver failure in two siblings with novel bi-allelic mutations of NBASFrederico S Regateiro, Serkan Belkaya, Nélson Neves, et al.Journal of Human Genetics|November 14, 2009
Identification of novel L2HGDH gene mutations and update of the pathological spectrumLaura Vilarinho, Sandra Tafulo, Michelina Sibilio, et al.Journal of Child Neurology|January 27, 2009
Mutations in the MECP2 gene are not a major cause of Rett syndrome-like or related neurodevelopmental phenotype in male patientsMónica Santos, Teresa Temudo, Teresa Kay, et al.Revista Portuguesa De Cardiologia : Orgao Oficial Da Sociedade Portuguesa De Cardiologia = Portuguese Journal of Cardiology : an Official Journal of the Portuguese Society of Cardiology|June 7, 2011
Left ventricular noncompaction: analysis of a pediatric populationMarta António, Carmen Costa, Margarida Venâncio, et al.HGG Advances|July 7, 2026
A personalized genomic medicine approach to rare genomic disorders associated with simple chromosomal structural variantsDezső David, Joana Fino, Márcia Rodrigues, et al.American Journal of Medical Genetics. Part A|July 14, 2006
Clinical dividends from the molecular genetic diagnosis of craniosynostosisAndrew O M Wilkie, Elena G Bochukova, Ruth M S Hansen, et al.Pageof 3