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American Journal of Medical Genetics. Part A|July 26, 2017
Agenesis of the corpus callosum, developmental delay, autism spectrum disorder, facial dysmorphism, and posterior polymorphous corneal dystrophy associated with ZEB1 gene deletionAyeshah Chaudhry, Brian H Chung, Dimitri J Stavropoulos, et al.
American Journal of Medical Genetics. Part A|October 30, 2008
Clinical and molecular cytogenetic characterization of four patients with unbalanced translocation der(1)t(1;22)(p36;q13)Marzena Gajecka, Reem Saadeh, Katherine L Mackay, et al.
Archives of Disease in Childhood. Fetal and Neonatal Edition|April 14, 2026
Diagnostic yield and imaging: aetiology correlations in prenatal intracranial haemorrhage-a retrospective cohort studyShiri Shinar, Laurence S Carmant, Priya Tripathy, et al.
Prenatal Diagnosis|June 17, 2025
Occipital Cephalocele, Polymicrogyria, Ocular Anomaly and Vermian Dysplasia: Prenatal Markers for Knobloch SyndromeLaurence Sophie Carmant, Elka Miller, David Chitayat, et al.
European Urology|January 8, 2011
Impact of 5α-reductase inhibitors on men followed by active surveillance for prostate cancerAntonio Finelli, Greg Trottier, Nathan Lawrentschuk, et al.
Human Molecular Genetics|November 4, 2010
Expanded CTG repeat demarcates a boundary for abnormal CpG methylation in myotonic dystrophy patient tissuesArturo López Castel, Masayuki Nakamori, Stephanie Tomé, et al.
Pediatric Radiology|February 8, 2006
Basal ganglia germinoma in children with associated ipsilateral cerebral and brain stem hemiatrophyRodrigo V Ozelame, Manohar Shroff, Bradley Wood, et al.
Molecular Genetics and Metabolism Reports|January 9, 2019
Severe cystic degeneration and intractable seizures in a newborn with molybdenum cofactor deficiency type BFady Hannah-Shmouni, Lauren MacNeil, Murray Potter, et al.
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