Hasil Pencarian - Christian R Marshall

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  1. 1
    Genome sequencing identifies a rare case of moderate Zellweger spectrum disorder caused by a PEX3 defect: Case report and literature review

    Genome sequencing identifies a rare case of moderate Zellweger spectrum disorder caused by a PEX3 defect: Case report and literature review oleh Whiwon Lee, Gregory Costain, Susan Blaser, Susan Walker, Christian R. Marshall, Hernan Gonorazky, Michal Inbar-Feigenberg

    Diterbitkan 2020-12-01
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  2. 2
    Novel population specific autosomal copy number variation and its functional analysis amongst Negritos from Peninsular Malaysia.

    Novel population specific autosomal copy number variation and its functional analysis amongst Negritos from Peninsular Malaysia. oleh Siti Shuhada Mokhtar, Christian R Marshall, Maude E Phipps, Bhooma Thiruvahindrapuram, Anath C Lionel, Stephen W Scherer, Hoh Boon Peng

    Diterbitkan 2014-01-01
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  3. 3
    Rare Copy Number Variants Identified Suggest the Regulating Pathways in Hypertension-Related Left Ventricular Hypertrophy.

    Rare Copy Number Variants Identified Suggest the Regulating Pathways in Hypertension-Related Left Ventricular Hypertrophy. oleh Hoh Boon-Peng, Julia Ashazila Mat Jusoh, Christian R Marshall, Fadhlina Majid, Norlaila Danuri, Fashieha Basir, Bhooma Thiruvahindrapuram, Stephen W Scherer, Khalid Yusoff

    Diterbitkan 2016-01-01
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  4. 4
    Whole-genome sequencing suggests mechanisms for 22q11.2 deletion-associated Parkinson's disease.

    Whole-genome sequencing suggests mechanisms for 22q11.2 deletion-associated Parkinson's disease. oleh Nancy J Butcher, Daniele Merico, Mehdi Zarrei, Lucas Ogura, Christian R Marshall, Eva W C Chow, Anthony E Lang, Stephen W Scherer, Anne S Bassett

    Diterbitkan 2017-01-01
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  5. 5
    Genome sequencing broadens the range of contributing variants with clinical implications in schizophrenia

    Genome sequencing broadens the range of contributing variants with clinical implications in schizophrenia oleh Bahareh A. Mojarad, Yue Yin, Roozbeh Manshaei, Ian Backstrom, Gregory Costain, Tracy Heung, Daniele Merico, Christian R. Marshall, Anne S. Bassett, Ryan K. C. Yuen

    Diterbitkan 2021-02-01
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  6. 6
    Genes and Pathways Implicated in Tetralogy of Fallot Revealed by Ultra-Rare Variant Burden Analysis in 231 Genome Sequences

    Genes and Pathways Implicated in Tetralogy of Fallot Revealed by Ultra-Rare Variant Burden Analysis in 231 Genome Sequences oleh Roozbeh Manshaei, Daniele Merico, Daniele Merico, Miriam S. Reuter, Miriam S. Reuter, Worrawat Engchuan, Bahareh A. Mojarad, Rajiv Chaturvedi, Rajiv Chaturvedi, Tracy Heung, Tracy Heung, Giovanna Pellecchia, Mehdi Zarrei, Mehdi Zarrei, Thomas Nalpathamkalam, Reem Khan, John B. A. Okello, Eriskay Liston, Meredith Curtis, Ryan K. C. Yuen, Ryan K. C. Yuen, Ryan K. C. Yuen, Christian R. Marshall, Christian R. Marshall, Christian R. Marshall, Christian R. Marshall, Rebekah K. Jobling, Rebekah K. Jobling, Erwin Oechslin, Rachel M. Wald, Rachel M. Wald, Candice K. Silversides, Stephen W. Scherer, Stephen W. Scherer, Stephen W. Scherer, Stephen W. Scherer, Raymond H. Kim, Raymond H. Kim, Raymond H. Kim, Anne S. Bassett, Anne S. Bassett, Anne S. Bassett, Anne S. Bassett, Anne S. Bassett

    Diterbitkan 2020-09-01
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  7. 7
    The Medical Genome Initiative: moving whole-genome sequencing for rare disease diagnosis to the clinic

    The Medical Genome Initiative: moving whole-genome sequencing for rare disease diagnosis to the clinic oleh Christian R. Marshall, David Bick, John W. Belmont, Stacie L. Taylor, Euan Ashley, David Dimmock, Vaidehi Jobanputra, Hutton M. Kearney, Shashikant Kulkarni, Heidi Rehm, on behalf of the Medical Genome Initiative

    Diterbitkan 2020-05-01
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  8. 8
    Rare copy number variations in adults with tetralogy of Fallot implicate novel risk gene pathways.

    Rare copy number variations in adults with tetralogy of Fallot implicate novel risk gene pathways. oleh Candice K Silversides, Anath C Lionel, Gregory Costain, Daniele Merico, Ohsuke Migita, Ben Liu, Tracy Yuen, Jessica Rickaby, Bhooma Thiruvahindrapuram, Christian R Marshall, Stephen W Scherer, Anne S Bassett

    Diterbitkan 2012-01-01
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  9. 9
    Network topologies and convergent aetiologies arising from deletions and duplications observed in individuals with autism.

    Network topologies and convergent aetiologies arising from deletions and duplications observed in individuals with autism. oleh Hyun Ji Noh, Chris P Ponting, Hannah C Boulding, Stephen Meader, Catalina Betancur, Joseph D Buxbaum, Dalila Pinto, Christian R Marshall, Anath C Lionel, Stephen W Scherer, Caleb Webber

    Diterbitkan 2013-06-01
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  10. 10
    Impact of IQ on the diagnostic yield of chromosomal microarray in a community sample of adults with schizophrenia

    Impact of IQ on the diagnostic yield of chromosomal microarray in a community sample of adults with schizophrenia oleh Chelsea Lowther, Daniele Merico, Gregory Costain, Jack Waserman, Kerry Boyd, Abdul Noor, Marsha Speevak, Dimitri J. Stavropoulos, John Wei, Anath C. Lionel, Christian R. Marshall, Stephen W. Scherer, Anne S. Bassett

    Diterbitkan 2017-11-01
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  11. 11
    Genome sequencing as a platform for pharmacogenetic genotyping: a pediatric cohort study

    Genome sequencing as a platform for pharmacogenetic genotyping: a pediatric cohort study oleh Iris Cohn, Tara A. Paton, Christian R. Marshall, Raveen Basran, Dimitri J. Stavropoulos, Peter N. Ray, Nasim Monfared, Robin Z. Hayeems, M. Stephen Meyn, Sarah Bowdin, Stephen W. Scherer, Ronald D. Cohn, Shinya Ito

    Diterbitkan 2017-05-01
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  12. 12
    Mutations in RAB39B in individuals with intellectual disability, autism spectrum disorder, and macrocephaly

    Mutations in RAB39B in individuals with intellectual disability, autism spectrum disorder, and macrocephaly oleh Marc Woodbury-Smith, Eric Deneault, Ryan K. C. Yuen, Susan Walker, Mehdi Zarrei, Giovanna Pellecchia, Jennifer L. Howe, Ny Hoang, Mohammed Uddin, Christian R. Marshall, Christina Chrysler, Ann Thompson, Peter Szatmari, Stephen W. Scherer

    Diterbitkan 2017-11-01
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  13. 13
    Advancing access to genome sequencing for rare genetic disorders: recent progress and call to action

    Advancing access to genome sequencing for rare genetic disorders: recent progress and call to action oleh Vaidehi Jobanputra, Brock Schroeder, Heidi L. Rehm, Wei Shen, Elizabeth Spiteri, Ghunwa Nakouzi, Stacie Taylor, Christian R. Marshall, Linyan Meng, Stephen F. Kingsmore, Katarzyna Ellsworth, Euan Ashley, Ryan J. Taft, on behalf of the Medical Genome Initiative

    Diterbitkan 2024-03-01
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  14. 14
    Mutations in Plasmalemma Vesicle Associated Protein Result in Sieving Protein-Losing Enteropathy Characterized by Hypoproteinemia, Hypoalbuminemia, and HypertriglyceridemiaSummary

    Mutations in Plasmalemma Vesicle Associated Protein Result in Sieving Protein-Losing Enteropathy Characterized by Hypoproteinemia, Hypoalbuminemia, and HypertriglyceridemiaSummary oleh Abdul Elkadri, Cornelia Thoeni, Sophie J. Deharvengt, Ryan Murchie, Conghui Guo, James D. Stavropoulos, Christian R. Marshall, Paul Wales, Robert H.J. Bandsma, Ernest Cutz, Chaim M. Roifman, David Chitayat, Yaron Avitzur, Radu V. Stan, Aleixo M. Muise

    Diterbitkan 2015-07-01
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  15. 15
    Rare copy number variations affecting the synaptic gene DMXL2 in neurodevelopmental disorders

    Rare copy number variations affecting the synaptic gene DMXL2 in neurodevelopmental disorders oleh Gregory Costain, Susan Walker, Bob Argiropoulos, Danielle A. Baribeau, Anne S. Bassett, Erik Boot, Koen Devriendt, Barbara Kellam, Christian R. Marshall, Aparna Prasad, Moises A. Serrano, D. James Stavropoulos, Hope Twede, Joris R. Vermeesch, Jacob A. S. Vorstman, Stephen W. Scherer

    Diterbitkan 2019-02-01
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  16. 16
    A systematic assessment of the impact of rare canonical splice site variants on splicing using functional and in silico methods

    A systematic assessment of the impact of rare canonical splice site variants on splicing using functional and in silico methods oleh Rachel Y. Oh, Ali AlMail, David Cheerie, George Guirguis, Huayun Hou, Kyoko E. Yuki, Bushra Haque, Bhooma Thiruvahindrapuram, Christian R. Marshall, Roberto Mendoza-Londono, Adam Shlien, Lianna G. Kyriakopoulou, Susan Walker, James J. Dowling, Michael D. Wilson, Gregory Costain

    Diterbitkan 2024-07-01
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  17. 17
    Association and mutation analyses of 16p11.2 autism candidate genes.

    Association and mutation analyses of 16p11.2 autism candidate genes. oleh Ravinesh A Kumar, Christian R Marshall, Judith A Badner, Timothy D Babatz, Zohar Mukamel, Kimberly A Aldinger, Jyotsna Sudi, Camille W Brune, Gerald Goh, Samer Karamohamed, James S Sutcliffe, Edwin H Cook, Daniel H Geschwind, William B Dobyns, Stephen W Scherer, Susan L Christian

    Diterbitkan 2009-01-01
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  18. 18
    Utilization of next-generation sequencing to define the role of heterozygous FOXN1 variants in immunodeficiency

    Utilization of next-generation sequencing to define the role of heterozygous FOXN1 variants in immunodeficiency oleh Yehonatan Pasternak, MD, Linda Vong, PhD, Daniele Merico, PhD, Laura Abrego Fuentes, MD, Ori Scott, MD, Marina Sham, MD, Meghan Fraser, RN, Abby Watts-Dickens, CGC, Jessica Willett Pachul, RN, MN, Vy H.D. Kim, MD, MScCH, FRCPC, Christian R. Marshall, PhD, Stephen Scherer, PhD, Chaim M. Roifman, CM, MD, FRCPC, FCACB

    Diterbitkan 2024-08-01
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  19. 19
    Analysis of five deep-sequenced trio-genomes of the Peninsular Malaysia Orang Asli and North Borneo populations

    Analysis of five deep-sequenced trio-genomes of the Peninsular Malaysia Orang Asli and North Borneo populations oleh Lian Deng, Haiyi Lou, Xiaoxi Zhang, Bhooma Thiruvahindrapuram, Dongsheng Lu, Christian R. Marshall, Chang Liu, Bo Xie, Wanxing Xu, Lai-Ping Wong, Chee-Wei Yew, Aghakhanian Farhang, Rick Twee-Hee Ong, Mohammad Zahirul Hoque, Abdul Rahman Thuhairah, Bhak Jong, Maude E. Phipps, Stephen W. Scherer, Yik-Ying Teo, Subbiah Vijay Kumar, Boon-Peng Hoh, Shuhua Xu

    Diterbitkan 2019-11-01
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  20. 20
    Genome-wide copy number analysis uncovers a new HSCR gene: NRG3.

    Genome-wide copy number analysis uncovers a new HSCR gene: NRG3. oleh Clara Sze-Man Tang, Guo Cheng, Man-Ting So, Benjamin Hon-Kei Yip, Xiao-Ping Miao, Emily Hoi-Man Wong, Elly Sau-Wai Ngan, Vincent Chi-Hang Lui, You-Qiang Song, Danny Chan, Kenneth Cheung, Zhen-Wei Yuan, Liu Lei, Patrick Ho-Yu Chung, Xue-Lai Liu, Kenneth Kak-Yuen Wong, Christian R Marshall, Stephen W Scherer, Stacey S Cherny, Pak-Chung Sham, Paul Kwong-Hang Tam, Maria-Mercè Garcia-Barceló

    Diterbitkan 2012-01-01
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