Showing 1 - 5 results of 5 for search 'Sarah Elsea', query time: 0.03s Refine Results
  1. 1
    P311: A 7.4 Mb duplication of 6p22.1-22.3 in a cognitively normal adult with a history of multiple congenital anomalies

    P311: A 7.4 Mb duplication of 6p22.1-22.3 in a cognitively normal adult with a history of multiple congenital anomalies by Andrew Sobering, Victor Keesee, Yasseen Amellal, Sarah Elsea, Dong Li, Elizabeth Bhoj

    Published 2023-01-01
    Get full text
    Article
  2. 2
    P396: Circadian and behavioral differences with Rai1 haploinsufficiency in the setting of hyperphagia-induced weight gain

    P396: Circadian and behavioral differences with Rai1 haploinsufficiency in the setting of hyperphagia-induced weight gain by Kenyon Agrons, Gracie Hufft, Sarah Elsea, Christopher Ward, Kathleen McDowell-Takahashi

    Published 2024-01-01
    Get full text
    Article
  3. 3
    P015: Screening for disorders of GABA metabolism: Integration of sequencing and metabolomic screening supports early diagnosis and expands access to care

    P015: Screening for disorders of GABA metabolism: Integration of sequencing and metabolomic screening supports early diagnosis and expands access to care by Kevin Glinton, Charul Gijavanekar, Kirt Martin, Theresa Wilson, Vernon Sutton, Sarah Elsea

    Published 2023-01-01
    Get full text
    Article
  4. 4
    P016: Expanded clinical phenotype and the role of untargeted metabolomics analysis in confirming the diagnosis of sodium-dependent multivitamin transporter deficiency

    P016: Expanded clinical phenotype and the role of untargeted metabolomics analysis in confirming the diagnosis of sodium-dependent multivitamin transporter deficiency by Ameya Walimbe, Emily Waskow, Laura Mackay, Charul Gijavanekar, Marcus Miller, Sarah Elsea, Fernando Scaglia

    Published 2024-01-01
    Get full text
    Article
  5. 5
    A duplication CNV that conveys traits reciprocal to metabolic syndrome and protects against diet-induced obesity in mice and men.

    A duplication CNV that conveys traits reciprocal to metabolic syndrome and protects against diet-induced obesity in mice and men. by Melanie Lacaria, Pradip Saha, Lorraine Potocki, Weimin Bi, Jiong Yan, Santhosh Girirajan, Brooke Burns, Sarah Elsea, Katherina Walz, Lawrence Chan, James R Lupski, Wenli Gu

    Published 2012-01-01
    Get full text
    Article

Search Tools: