نتائج البحث - Marshall, Christian R
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Severe neurodegeneration, progressive cerebral volume loss and diffuse hypomyelination associated with a homozygous frameshift mutation in CSTB حسب O'Brien, Alan, Marshall, Christian R, Blaser, Susan, Ray, Peter N, Yoon, Grace
منشور في 2017نص -
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Genome sequencing identifies a rare case of moderate Zellweger spectrum disorder caused by a PEX3 defect: Case report and literature review حسب Lee, Whiwon, Costain, Gregory, Blaser, Susan, Walker, Susan, Marshall, Christian R., Gonorazky, Hernan, Inbar-Feigenberg, Michal
منشور في 2020نص -
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Copy Number Variable MicroRNAs in Schizophrenia and Their Neurodevelopmental Gene Targets حسب Warnica, William, Merico, Daniele, Costain, Gregory, Alfred, Simon E., Wei, John, Marshall, Christian R., Scherer, Stephen W., Bassett, Anne S.
منشور في 2014نص -
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Sequencing of isolated sperm cells for direct haplotyping of a human genome حسب Kirkness, Ewen F., Grindberg, Rashel V., Yee-Greenbaum, Joyclyn, Marshall, Christian R., Scherer, Stephen W., Lasken, Roger S., Venter, J. Craig
منشور في 2013نص -
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Novel Population Specific Autosomal Copy Number Variation and Its Functional Analysis amongst Negritos from Peninsular Malaysia حسب Mokhtar, Siti Shuhada, Marshall, Christian R., Phipps, Maude E., Thiruvahindrapuram, Bhooma, Lionel, Anath C., Scherer, Stephen W., Peng, Hoh Boon
منشور في 2014نص -
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Adult Neuropsychiatric Expression and Familial Segregation of 2q13 Duplications حسب Costain, Gregory, Lionel, Anath C., Fu, Fiona, Stavropoulos, Dimitri J., Gazzellone, Matthew J., Marshall, Christian R., Scherer, Stephen W., Bassett, Anne S.
منشور في 2014نص -
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Excessive genomic DNA copy number variation in the Li–Fraumeni cancer predisposition syndrome حسب Shlien, Adam, Tabori, Uri, Marshall, Christian R., Pienkowska, Malgorzata, Feuk, Lars, Novokmet, Ana, Nanda, Sonia, Druker, Harriet, Scherer, Stephen W., Malkin, David
منشور في 2008نص -
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The Common Inversion of the Williams–Beuren Syndrome Region at 7q11.23 Does Not Cause Clinical Symptoms حسب Tam, Elaine, Young, Edwin J., Morris, Colleen A., Marshall, Christian R., Loo, Wayne, Scherer, Stephen W., Mervis, Carolyn B., Osborne, Lucy R.
منشور في 2008نص -
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Human PTCHD3 nulls: rare copy number and sequence variants suggest a non-essential gene حسب Ghahramani Seno, Mohammad M, Kwan, Benjamin YM, Lee-Ng, Ka Ki M, Moessner, Rainald, Lionel, Anath C, Marshall, Christian R, Scherer, Stephen W
منشور في 2011نص -
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Rare Copy Number Variants Identified Suggest the Regulating Pathways in Hypertension-Related Left Ventricular Hypertrophy حسب Boon-Peng, Hoh, Mat Jusoh, Julia Ashazila, Marshall, Christian R., Majid, Fadhlina, Danuri, Norlaila, Basir, Fashieha, Thiruvahindrapuram, Bhooma, Scherer, Stephen W., Yusoff, Khalid
منشور في 2016نص