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American Journal of Medical Genetics|January 1, 1980
Congenital hypothalamic hamartoblastoma, hypopituitarism, imperforate anus and postaxial polydactyly--a new syndrome? Part I: clinical, causal, and pathogenetic considerationsJ G Hall, P D Pallister, S K Clarren, et al.American Journal of Medical Genetics|January 1, 1989
Congenital diaphragmatic hernia, coarse facies, and acral hypoplasia: Fryns syndromeJ S Bamforth, C O Leonard, B N Chodirker, et al.The Journal of Pediatrics|March 1, 1984
Apnea and sudden unexpected death in infants with achondroplasiaR M Pauli, C I Scott, E R Wassman, et al.The Journal of Pediatrics|January 1, 1990
Congenital rubella syndrome associated with calcific epiphyseal stippling and peroxisomal dysfunctionM G Pike, D A Applegarth, H G Dunn, et al.Journal of Viral Hepatitis|January 11, 2007
Quantitative analysis of HBV cccDNA from clinical specimens: correlation with clinical and virological response during antiviral therapyE J Bourne, J L Dienstag, V A Lopez, et al.Journal of Clinical Microbiology|December 1, 1996
Differentiation of bacterial 16S rRNA genes and intergenic regions and Mycobacterium tuberculosis katG genes by structure-specific endonuclease cleavageM A Brow, M C Oldenburg, V Lyamichev, et al.Journal of Medical Genetics|September 12, 2006
Clinical and molecular cytogenetic characterisation of a newly recognised microdeletion syndrome involving 2p15-16.1E Rajcan-Separovic, C Harvard, X Liu, et al.Clinical Genetics|October 17, 2013
Exome sequencing identifies mutations in KIF14 as a novel cause of an autosomal recessive lethal fetal ciliopathy phenotypeI Filges, E Nosova, E Bruder, et al.American Journal of Medical Genetics|January 1, 1977
Acromesomelic dwarfism: manifestations in childhoodL O Langer, R K Beals, I L Solomon, et al.Nature Biotechnology|March 30, 1999
Polymorphism identification and quantitative detection of genomic DNA by invasive cleavage of oligonucleotide probesV Lyamichev, A L Mast, J G Hall, et al.Pageof 30