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American Journal of Obstetrics and Gynecology|March 26, 2004
Randomized controlled trial of misoprostol for second-trimester pregnancy termination associated with fetal malformationHani A Akoury, Mary E Hannah, David Chitayat, et al.HGG Advances|November 27, 2024
MGA-related syndrome: A proposed novel disorderBobbi McGivern, Michelle M Morrow, Erin Torti, et al.Human Molecular Genetics|October 11, 2018
Bi-allelic mutations of LONP1 encoding the mitochondrial LonP1 protease cause pyruvate dehydrogenase deficiency and profound neurodegeneration with progressive cerebellar atrophyGraeme A M Nimmo, Sundararajan Venkatesh, Ashutosh K Pandey, et al.Brain : a Journal of Neurology|October 1, 2010
Magnetic resonance imaging pattern recognition in hypomyelinating disordersMarjan E Steenweg, Adeline Vanderver, Susan Blaser, et al.European Journal of Human Genetics : EJHG|January 10, 2026
Experiencing acute genomic care: perspectives from parents in the neonatal and paediatric intensive care units towards rapid genomic sequencingMichael P Mackley, Megan A Dickson, Anna Szuto, et al.Early Human Development|January 9, 2025
Predictive model of neurodevelopmental outcome in neonatal hypoxic ischemic encephalopathyAmr I El Shahed, Helen M Branson, Anil Chacko, et al.Annals of Neurology|January 31, 2003
A new leukoencephalopathy with brainstem and spinal cord involvement and high lactateMarjo S van der Knaap, Patrick van der Voorn, Frederik Barkhof, et al.Human Mutation|May 3, 2013
PhenoTips: patient phenotyping software for clinical and research useMarta Girdea, Sergiu Dumitriu, Marc Fiume, et al.Journal of Women'S Health (2002)|January 30, 2023
Reproductive Safety of Lurasidone and Quetiapine: Update from the National Pregnancy Registry for Psychiatric MedicationsLee S Cohen, Taylor R Church, Marlene P Freeman, et al.American Journal of Medical Genetics. Part A|December 10, 2022
Fetal akinesia deformation sequence syndrome associated with recessive TTN variantsEbba Alkhunaizi, Nicole Martin, Angie C Jelin, et al.Pageof 53