検索結果 - Tamim H. Shaikh

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  1. 1
    Copy Number Variation Disorders

    Copy Number Variation Disorders 著者: Tamim H. Shaikh

    出版事項 2017
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    Artigo
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  2. 2
    Evolutionarily conserved low copy repeats (LCRs) in 22q11 mediate deletions, duplications, translocations, and genomic instability: An update and literature review

    Evolutionarily conserved low copy repeats (LCRs) in 22q11 mediate deletions, duplications, translocations, and genomic instability: An update and literature review 著者: Tamim H. Shaikh, Hiroki Kurahashi, Beverly S. Emanuel

    出版事項 2001
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  3. 3
    Clinical impact of copy number variation analysis using high-resolution microarray technologies: advantages, limitations and concerns

    Clinical impact of copy number variation analysis using high-resolution microarray technologies: advantages, limitations and concerns 著者: Curtis R. Coughlin, Gunter Scharer, Tamim H. Shaikh

    出版事項 2012
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  4. 4
    The Constitutional t(17;22): Another Translocation Mediated by Palindromic AT-Rich Repeats

    The Constitutional t(17;22): Another Translocation Mediated by Palindromic AT-Rich Repeats 著者: Hiroki Kurahashi, Tamim H. Shaikh, Masayuki Takata, Tatsushi Toda, Beverly S. Emanuel

    出版事項 2003
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    Artigo
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  5. 5
    A palindrome-mediated mechanism distinguishes translocations involving LCR-B of chromosome 22q11.2

    A palindrome-mediated mechanism distinguishes translocations involving LCR-B of chromosome 22q11.2 著者: Anthony L. Gotter, Tamim H. Shaikh, Marcia L. Budarf, C. Harker Rhodes, Beverly S. Emanuel

    出版事項 2003
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    Artigo
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  6. 6
    Detailed analysis of 22q11.2 with a high density MLPA probe set

    Detailed analysis of 22q11.2 with a high density MLPA probe set 著者: G R Jalali, Jacob Vorstman, Ab Errami, Raymon Vijzelaar, Jaclyn A. Biegel, Tamim H. Shaikh, B S Emanuel

    出版事項 2007
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  7. 7
    Microdeletions and Microduplications in Patients with Congenital Heart Disease and Multiple Congenital Anomalies

    Microdeletions and Microduplications in Patients with Congenital Heart Disease and Multiple Congenital Anomalies 著者: Elizabeth Goldmuntz, Prasuna Paluru, Joseph Glessner, Hákon Hákonarson, Jaclyn A. Biegel, Peter S. White, Xiaowu Gai, Tamim H. Shaikh

    出版事項 2011
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  8. 8
    Structure and variability of recently inserted Alu family members

    Structure and variability of recently inserted Alu family members 著者: Mark A. Batzer, Gail Kilroy, Pamela E. Richard, Tamim H. Shaikh, Trent D. Desselle, Carol L. Hoppens, Prescott L. Deininger

    出版事項 1990
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  9. 9
    Low copy repeats mediate distal chromosome 22q11.2 deletions: Sequence analysis predicts breakpoint mechanisms

    Low copy repeats mediate distal chromosome 22q11.2 deletions: Sequence analysis predicts breakpoint mechanisms 著者: Tamim H. Shaikh, Ronald J. O’Connor, Mary Ella Pierpont, James McGrath, April M. Hacker, Manjunath Nimmakayalu, Elizabeth A. Geiger, Beverly S. Emanuel, Sulagna C. Saitta

    出版事項 2007
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  10. 10
    Genomic Analysis Using High-Density Single Nucleotide Polymorphism-Based Oligonucleotide Arrays and Multiplex Ligation-Dependent Probe Amplification Provides a Comprehensive Analysis of <i>INI1/SMARCB1</i> in Malignant Rhabdoid Tumors

    Genomic Analysis Using High-Density Single Nucleotide Polymorphism-Based Oligonucleotide Arrays and Multiplex Ligation-Dependent Probe Amplification Provides a Comprehensive Analys... 著者: Eric M. Jackson, Angela J. Sievert, Xiaowu Gai, Hákon Hákonarson, Alexander R. Judkins, Laura Tooke, Juan C. Perín, Hongbo Xie, Tamim H. Shaikh, Jaclyn A. Biegel

    出版事項 2009
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  11. 11
    Duplication of 7q34 in Pediatric Low‐Grade Astrocytomas Detected by High‐Density Single‐Nucleotide Polymorphism‐Based Genotype Arrays Results in a Novel <i>BRAF</i> Fusion Gene

    Duplication of 7q34 in Pediatric Low‐Grade Astrocytomas Detected by High‐Density Single‐Nucleotide Polymorphism‐Based Genotype Arrays Results in a Novel <i>BRAF</i> Fusion Gene... 著者: Angela J. Sievert, Eric M. Jackson, Xiaowu Gai, Hákon Hákonarson, Alexander R. Judkins, Adam Resnick, Leslie N. Sutton, Phillip B. Storm, Tamim H. Shaikh, Jaclyn A. Biegel

    出版事項 2009
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    Artigo
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  12. 12
    Kabuki syndrome genes<i>KMT2D</i>and<i>KDM6A</i>: functional analyses demonstrate critical roles in craniofacial, heart and brain development

    Kabuki syndrome genes<i>KMT2D</i>and<i>KDM6A</i>: functional analyses demonstrate critical roles in craniofacial, heart and brain development 著者: Peter M. Van Laarhoven, Leif R. Neitzel, Anita M. Quintana, Elizabeth A. Geiger, Elaine H. Zackai, David E. Clouthier, Kristin Artinger, Jeffrey E. Ming, Tamim H. Shaikh

    出版事項 2015
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  13. 13
    The discovery of microdeletion syndromes in the post-genomic era: review of the methodology and characterization of a new 1q41q42 microdeletion syndrome

    The discovery of microdeletion syndromes in the post-genomic era: review of the methodology and characterization of a new 1q41q42 microdeletion syndrome 著者: Lisa G. Shaffer, Aaron Theisen, Bassem A. Bejjani, Blake C. Ballif, Arthur S. Aylsworth, Cynthia Lim, Marie McDonald, Jay W. Ellison, Dana Kostiner, Sulagna C. Saitta, Tamim H. Shaikh

    出版事項 2007
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  14. 14
    Mutations in THAP11 cause an inborn error of cobalamin metabolism and developmental abnormalities

    Mutations in THAP11 cause an inborn error of cobalamin metabolism and developmental abnormalities 著者: Anita M. Quintana, Hung‐Chun Yu, Alison Brebner, Mihaela Pupavac, Elizabeth A. Geiger, Abigail Watson, Victoria L. Castro, Warren Cheung, Shu‐Huang Chen, David Watkins, Tomi Pastinen, Flemming Skovby, Bruce Appel, David S. Rosenblatt, Tamim H. Shaikh

    出版事項 2017
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    Artigo
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  15. 15
    Rare structural variation of synapse and neurotransmission genes in autism

    Rare structural variation of synapse and neurotransmission genes in autism 著者: Xiaowu Gai, Hongbo Xie, Juan C. Perín, Nagahide Takahashi, Kevin J. Murphy, Adam S Wenocur, Monica D’Arcy, Ryan O'Hara, Elizabeth Goldmuntz, Dorothy E. Grice, Tamim H. Shaikh, Hákon Hákonarson, Joseph D. Buxbaum, Josephine Elia, Peter S. White

    出版事項 2011
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  16. 16
    SNP array mapping of chromosome 20p deletions: Genotypes, phenotypes, and copy number variation

    SNP array mapping of chromosome 20p deletions: Genotypes, phenotypes, and copy number variation 著者: Binita M. Kamath, Brian Thiel, Xiaowu Gai, Laura K. Conlin, Pedro S Munoz, Joseph Glessner, Dinah Clark, Daniel M. Warthen, Tamim H. Shaikh, Ercan Mıhçı, David A. Piccoli, Struan F.A. Grant, Hákon Hákonarson, Ian D. Krantz, Nancy B. Spinner

    出版事項 2008
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  17. 17
    Mutations in the mitochondrial cysteinyl-tRNA synthase gene,<i>CARS2,</i>lead to a severe epileptic encephalopathy and complex movement disorder

    Mutations in the mitochondrial cysteinyl-tRNA synthase gene,<i>CARS2,</i>lead to a severe epileptic encephalopathy and complex movement disorder 著者: Curtis R. Coughlin, Gunter Scharer, Marisa W. Friederich, Hung‐Chun Yu, Elizabeth A. Geiger, Geralyn Creadon‐Swindell, Abigail E. Collins, Arnaud Vanlander, Rudy Van Coster, Christopher A. Powell, Michael A. Swanson, Michal Minczuk, Johan L.K. Van Hove, Tamim H. Shaikh

    出版事項 2015
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    Artigo
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  18. 18
    The 22q11 low copy repeats are characterized by unprecedented size and structural variability

    The 22q11 low copy repeats are characterized by unprecedented size and structural variability 著者: Wolfram Demaerel, Yulia Mostovoy, Feyza Yilmaz, Lisanne Vervoort, Steven Pastor, Matthew S. Hestand, Ann Swillen, Elfi Vergaelen, Elizabeth A. Geiger, Curtis R. Coughlin, Stephen K. Chow, Donna M. McDonald‐McGinn, Bernice E. Morrow, Pui‐Yan Kwok, Ming Xiao, Beverly S. Emanuel, Tamim H. Shaikh, Joris Vermeesch

    出版事項 2019
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    Artigo
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  19. 19
    An X-Linked Cobalamin Disorder Caused by Mutations in Transcriptional Coregulator HCFC1

    An X-Linked Cobalamin Disorder Caused by Mutations in Transcriptional Coregulator HCFC1 著者: Hung‐Chun Yu, Jennifer L. Sloan, Gunter Scharer, Alison Brebner, Anita M. Quintana, Nathan P. Achilly, Irini Manoli, Curtis R. Coughlin, Elizabeth A. Geiger, Una Schneck, David Watkins, Terttu Suormala, Johan L.K. Van Hove, Brian Fowler, Matthias R. Baumgartner, David S. Rosenblatt, Charles P. Venditti, Tamim H. Shaikh

    出版事項 2013
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    Artigo
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  20. 20
    Rare structural variants found in attention-deficit hyperactivity disorder are preferentially associated with neurodevelopmental genes

    Rare structural variants found in attention-deficit hyperactivity disorder are preferentially associated with neurodevelopmental genes 著者: Josephine Elia, Xiaowu Gai, Hongbo Xie, Juan C. Perín, Elizabeth A. Geiger, Joseph Glessner, Monica D’Arcy, Rachel deBerardinis, Edward C. Frackelton, C. Kim, Francesca Lantieri, B M Muganga, L. Wang, Toshinobu Takeda, Eric Rappaport, Struan F.A. Grant, Wade H. Berrettini, Marcella Devoto, Tamim H. Shaikh, Hákon Hákonarson, Peter S. White

    出版事項 2009
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