Search Results - DeMarzo, Danielle

  • Showing 1 - 7 results of 7
Refine Results
  1. 1
    Molecular cytogenetic characterization of partial trisomy of the long arm of chromosome 11 in a patient with multiple congenital anomalies

    Molecular cytogenetic characterization of partial trisomy of the long arm of chromosome 11 in a patient with multiple congenital anomalies by Walker, Austin, Wang, Xianfu, Kim, Young Mi, Lu, Xianglan, Taylor, Ashley, Demarzo, Danielle, Li, Shibo, Pang, Hui

    Published in Molecular cytogenetics
    Get full text
    Items that this one cites
    Items that cite this one
    Article
    Save to List
    Saved in:
  2. 2
    Novel compound heterozygote variants: c.4193_4206delinsG (p.Leu1398Argfs25), c.793C > A (p.Pro265Thr), in the CPS1 gene (NM_001875.4) causing late onset carbamoyl phosphate synthetase 1 deficiency—Lessons learned

    Novel compound heterozygote variants: c.4193_4206delinsG (p.Leu1398Argfs25), c.793C > A (p.Pro265Thr), in the CPS1 gene (NM_001875.4) causing late onset carbamoyl phosphate synthet... by Lin, Hsin-Ti, Enchautegui-Colon, Yazmin, Huang, Yu-Ren, Zimmerman, Chelsea, DeMarzo, Danielle, Tsai, Anne Chun-Hui

    Get full text
    Items that this one cites
    Items that cite this one
    Article
    Save to List
    Saved in:
  3. 3
    Compound heterozygote variants: c.848A > G; p.Glu283Gly and c.890C > T; p.Ala297Val, of Isovaleric acid-CoA dehydrogenase (IVD) gene causing severe Isovaleric acidemia with hyperammonemia

    Compound heterozygote variants: c.848A > G; p.Glu283Gly and c.890C > T; p.Ala297Val, of Isovaleric acid-CoA dehydrogenase (IVD) gene causing severe Isovaleric acidemia with hyperam... by Tsai, Anne Chun-Hui, Lin, Hsin-Ti, Chou, Maxwell, Bolen, Jessica, Zimmerman, Chelsea, DeMarzo, Danielle, Enchautegui-Colon, Yazmin

    Get full text
    Items that this one cites
    Article
    Save to List
    Saved in:
  4. 4
    Bi-allelic Loss-of-Function Variants in NUP188 Cause a Recognizable Syndrome Characterized by Neurologic, Ocular, and Cardiac Abnormalities

    Bi-allelic Loss-of-Function Variants in NUP188 Cause a Recognizable Syndrome Characterized by Neurologic, Ocular, and Cardiac Abnormalities by Muir, Alison M., Cohen, Jennifer L., Sheppard, Sarah E., Guttipatti, Pavithran, Lo, Tsz Y., Weed, Natalie, Doherty, Dan, DeMarzo, Danielle, Fagerberg, Christina R., Kjærsgaard, Lars, Larsen, Martin J., Rump, Patrick, Löhner, Katharina, Hirsch, Yoel, Zeevi, David A., Zackai, Elaine H., Bhoj, Elizabeth, Song, Yuanquan, Mefford, Heather C.

    Get full text
    Items that this one cites
    Items that cite this one
    Article
    Save to List
    Saved in:
  5. 5
    Novel compound heterozygote variants: c.4193_4206delinsG (p.Leu1398Argfs25), c.793C > A (p.Pro265Thr), in the CPS1 gene (NM_001875.4) causing late onset carbamoyl phosphate synthetase 1 deficiency-Lessons learned

    Novel compound heterozygote variants: c.4193_4206delinsG (p.Leu1398Argfs25), c.793C > A (p.Pro265Thr), in the CPS1 gene (NM_001875.4) causing late onset carbamoyl phosphate synthet... by Lin, Hsin-Ti, Enchautegui-Colon, Yazmin, Huang, Yu-Ren, Zimmerman, Chelsea, DeMarzo, Danielle, Tsai, Anne Chun-Hui

    Get full text
    Report
    Save to List
    Saved in:
  6. 6
    Somatic loss of ATM is a late event in pancreatic tumorigenesis

    Somatic loss of ATM is a late event in pancreatic tumorigenesis by Paranal, Raymond M, Jiang, Zhengdong, Hutchings, Danielle, Kryklyva, Valentyna, Gauthier, Christian, Fujikura, Kohei, Nanda, Neha, Huang, Bo, Skaro, Michael, Wolfgang, Christopher L, He, Jin, Klimstra, David S, Brand, Randall E, Singhi, Aatur D, DeMarzo, Angelo, Zheng, Lei, Goggins, Michael, Brosens, Lodewijk AA, Hruban, Ralph H, Klein, Alison P, Lotan, Tamara, Wood, Laura D, Roberts, Nicholas J

    Get full text
    Items that this one cites
    Items that cite this one
    Article
    Save to List
    Saved in:
  7. 7
    BOOK REVIEWS: 1 State Edition

    BOOK REVIEWS: 1 State Edition by ROBIN MOYLE, DANIEL HOY, RAY CHESTERTON

    Published in Daily telegraph
    Get full text
    Review
    Save to List
    Saved in:

Search Tools: