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American Journal of Medical Genetics. Part A|June 24, 2004
Cohen syndrome in the Ohio AmishMarni J Falk, Heidi S Feiler, Derek E Neilson, et al.Human Genetics|July 4, 2006
A maternal hypomethylation syndrome presenting as transient neonatal diabetes mellitusD J G Mackay, S E Boonen, J Clayton-Smith, et al.Bioorganic & Medicinal Chemistry Letters|November 1, 2003
Heterocyclic ketones as inhibitors of histone deacetylaseAnil Vasudevan, Zhiqin Ji, Robin R Frey, et al.Human Genetics|August 23, 2021
The natural history of OTOF-related auditory neuropathy spectrum disorders: a multicenter studyRyan K Thorpe, Hela Azaiez, Peina Wu, et al.Human Molecular Genetics|September 25, 1997
A novel phenotypic pattern in X-linked inheritance: craniofrontonasal syndrome maps to Xp22G J Feldman, D E Ward, E Lajeunie-Renier, et al.Human Molecular Genetics|November 11, 1999
The mutational spectrum of the sonic hedgehog gene in holoprosencephaly: SHH mutations cause a significant proportion of autosomal dominant holoprosencephalyL Nanni, J E Ming, M Bocian, et al.Bioorganic & Medicinal Chemistry Letters|September 11, 2004
Isoindolinone ureas: a novel class of KDR kinase inhibitorsMichael L Curtin, Robin R Frey, H Robin Heyman, et al.International Journal of Laboratory Hematology|August 12, 2008
Rule based processing of the CD4000, CD3200 and CD Sapphire analyser output using the Cerner Discern Expert ModuleP Burgess, H Robin, M Langshaw, et al.Human Genetics|March 2, 2011
Microdeletion/microduplication of proximal 15q11.2 between BP1 and BP2: a susceptibility region for neurological dysfunction including developmental and language delayRachel D Burnside, Romela Pasion, Fady M Mikhail, et al.Journal of Medical Genetics|July 9, 2016
De novo missense variants in HECW2 are associated with neurodevelopmental delay and hypotoniaEsther R Berko, Megan T Cho, Christine Eng, et al.Pageof 27