Ohcanbohtosat - Marshall, Christian R
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Genome sequencing as a diagnostic test Dahkki Costain, Gregory, Cohn, Ronald D., Scherer, Stephen W., Marshall, Christian R.
Almmustuhtton 2021Teaksta -
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Séquençage du génome comme test diagnostique Dahkki Costain, Gregory, Cohn, Ronald D., Scherer, Stephen W., Marshall, Christian R.
Almmustuhtton 2022Teaksta -
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Severe neurodegeneration, progressive cerebral volume loss and diffuse hypomyelination associated with a homozygous frameshift mutation in CSTB Dahkki O'Brien, Alan, Marshall, Christian R, Blaser, Susan, Ray, Peter N, Yoon, Grace
Almmustuhtton 2017Teaksta -
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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 Dahkki Lee, Whiwon, Costain, Gregory, Blaser, Susan, Walker, Susan, Marshall, Christian R., Gonorazky, Hernan, Inbar-Feigenberg, Michal
Almmustuhtton 2020Teaksta -
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Copy Number Variable MicroRNAs in Schizophrenia and Their Neurodevelopmental Gene Targets Dahkki Warnica, William, Merico, Daniele, Costain, Gregory, Alfred, Simon E., Wei, John, Marshall, Christian R., Scherer, Stephen W., Bassett, Anne S.
Almmustuhtton 2014Teaksta -
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Sequencing of isolated sperm cells for direct haplotyping of a human genome Dahkki Kirkness, Ewen F., Grindberg, Rashel V., Yee-Greenbaum, Joyclyn, Marshall, Christian R., Scherer, Stephen W., Lasken, Roger S., Venter, J. Craig
Almmustuhtton 2013Teaksta -
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Novel Population Specific Autosomal Copy Number Variation and Its Functional Analysis amongst Negritos from Peninsular Malaysia Dahkki Mokhtar, Siti Shuhada, Marshall, Christian R., Phipps, Maude E., Thiruvahindrapuram, Bhooma, Lionel, Anath C., Scherer, Stephen W., Peng, Hoh Boon
Almmustuhtton 2014Teaksta -
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Adult Neuropsychiatric Expression and Familial Segregation of 2q13 Duplications Dahkki Costain, Gregory, Lionel, Anath C., Fu, Fiona, Stavropoulos, Dimitri J., Gazzellone, Matthew J., Marshall, Christian R., Scherer, Stephen W., Bassett, Anne S.
Almmustuhtton 2014Teaksta -
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Excessive genomic DNA copy number variation in the Li–Fraumeni cancer predisposition syndrome Dahkki Shlien, Adam, Tabori, Uri, Marshall, Christian R., Pienkowska, Malgorzata, Feuk, Lars, Novokmet, Ana, Nanda, Sonia, Druker, Harriet, Scherer, Stephen W., Malkin, David
Almmustuhtton 2008Teaksta -
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The Common Inversion of the Williams–Beuren Syndrome Region at 7q11.23 Does Not Cause Clinical Symptoms Dahkki Tam, Elaine, Young, Edwin J., Morris, Colleen A., Marshall, Christian R., Loo, Wayne, Scherer, Stephen W., Mervis, Carolyn B., Osborne, Lucy R.
Almmustuhtton 2008Teaksta -
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Human PTCHD3 nulls: rare copy number and sequence variants suggest a non-essential gene Dahkki Ghahramani Seno, Mohammad M, Kwan, Benjamin YM, Lee-Ng, Ka Ki M, Moessner, Rainald, Lionel, Anath C, Marshall, Christian R, Scherer, Stephen W
Almmustuhtton 2011Teaksta -
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Rare Copy Number Variants Identified Suggest the Regulating Pathways in Hypertension-Related Left Ventricular Hypertrophy Dahkki Boon-Peng, Hoh, Mat Jusoh, Julia Ashazila, Marshall, Christian R., Majid, Fadhlina, Danuri, Norlaila, Basir, Fashieha, Thiruvahindrapuram, Bhooma, Scherer, Stephen W., Yusoff, Khalid
Almmustuhtton 2016Teaksta