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American Journal of Human Genetics|April 14, 2015
Mutations in PYCR2, Encoding Pyrroline-5-Carboxylate Reductase 2, Cause Microcephaly and HypomyelinationTojo Nakayama, Almundher Al-Maawali, Malak El-Quessny, et al.American Journal of Hematology|October 30, 2013
X-linked sideroblastic anemia due to ALAS2 intron 1 enhancer element GATA-binding site mutationsDean R Campagna, Charlotte I de Bie, Klaus Schmitz-Abe, et al.Science (New York, N.Y.)|July 16, 2008
Identifying autism loci and genes by tracing recent shared ancestryEric M Morrow, Seung-Yun Yoo, Steven W Flavell, et al.American Journal of Human Genetics|July 5, 2003
A 3.9-centimorgan-resolution human single-nucleotide polymorphism linkage map and screening setTara C Matise, Ravi Sachidanandam, Andrew G Clark, et al.Blood|June 15, 2018
Congenital macrothrombocytopenia with focal myelofibrosis due to mutations in human G6b-B is rescued in humanized miceInga Hofmann, Mitchell J Geer, Timo Vögtle, et al.Nature Genetics|March 3, 2017
Biallelic mutations in human DCC cause developmental split-brain syndromeSaumya S Jamuar, Klaus Schmitz-Abe, Alissa M D'Gama, et al.Blood|October 23, 2015
Congenital sideroblastic anemia due to mutations in the mitochondrial HSP70 homologue HSPA9Klaus Schmitz-Abe, Szymon J Ciesielski, Paul J Schmidt, et al.Blood|September 7, 2014
Mutations in TRNT1 cause congenital sideroblastic anemia with immunodeficiency, fevers, and developmental delay (SIFD)Pranesh K Chakraborty, Klaus Schmitz-Abe, Erin K Kennedy, et al.Nature Genetics|December 2, 2024
Genome-wide association analyses identify distinct genetic architectures for age-related macular degeneration across ancestriesBryan R Gorman, Georgios Voloudakis, Robert P Igo, et al.Neuron|January 29, 2013
Using whole-exome sequencing to identify inherited causes of autismTimothy W Yu, Maria H Chahrour, Michael E Coulter, et al.Pageof 5