Hasil Pencarian - David Rodriguez‐Buritica

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  1. 1
    P305: Dual diagnoses of mosaic SRY deletion and HSD17B3 deficiency in a patient with discordant fetal sex

    P305: Dual diagnoses of mosaic SRY deletion and HSD17B3 deficiency in a patient with discordant fetal sex oleh Kathleen Shields, David Rodriguez-Buritica, Laura Farach

    Diterbitkan 2023-01-01
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  2. 2
    P062: A case of ornithine transcarbamylase deficiency

    P062: A case of ornithine transcarbamylase deficiency oleh Suad Siuffi Campo, Paul Hillman, David Rodriguez-Buritica

    Diterbitkan 2024-01-01
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  3. 3
    P017: Donor organ failure: The importance of donor heterozygosity in a case of primary hyperoxaluria type 1

    P017: Donor organ failure: The importance of donor heterozygosity in a case of primary hyperoxaluria type 1 oleh Kathryn Gunther, David Rodriguez-Buritica, Essam Imseis, Amr Elgehiny

    Diterbitkan 2023-01-01
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  4. 4
    Expanding Our Knowledge of Menstrual Irregularities Reported by Females With Tuberous Sclerosis Complex

    Expanding Our Knowledge of Menstrual Irregularities Reported by Females With Tuberous Sclerosis Complex oleh Kate Mowrey, Hope Northrup, Syed Shahrukh Hashmi, David Rodriguez-Buritica

    Diterbitkan 2022-02-01
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  5. 5
    P284: Clinical overlap in two patients with 46,XY DSD and limb abnormalities with identical variant in candidate gene LHX9

    P284: Clinical overlap in two patients with 46,XY DSD and limb abnormalities with identical variant in candidate gene LHX9 oleh Kathleen Shields, Christina Kresge, Beth Pletcher, Samantha Montgomery, David Rodriguez-Buritica

    Diterbitkan 2024-01-01
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  6. 6
    P192: Heterozygous ACTB pathogenic variant causing Baraitser-Winter syndrome presenting with tracheal ring, intestinal atresia, and neonatal diabetes

    P192: Heterozygous ACTB pathogenic variant causing Baraitser-Winter syndrome presenting with tracheal ring, intestinal atresia, and neonatal diabetes oleh Jeremy Hill, Kathleen Shields, David Rodriguez-Buritica, Laura Farach, Paul Hillman

    Diterbitkan 2023-01-01
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  7. 7
    Dermatological concerns for women and girls with turner syndrome

    Dermatological concerns for women and girls with turner syndrome oleh David Rodriguez-Buritica, David Rodriguez-Buritica, Meaghan Mones, Siddharth K. Prakash, Siddharth K. Prakash, Michelle Rivera, Michelle Rivera, Melissa Aldrich, Melissa Aldrich, Megan Rogge, Kate Richardson, Kate Richardson

    Diterbitkan 2023-09-01
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  8. 8
    Arginase deficiency masked by cerebral palsy and coagulopathy—Three varied presentations of Latin American origin

    Arginase deficiency masked by cerebral palsy and coagulopathy—Three varied presentations of Latin American origin oleh Shelby L. Mills, Paige Roberts, Myla Ashfaq, Kathryn Leal, Hope Northrup, Deborah L. Brown, David Rodriguez‐Buritica, Laura S. Farach

    Diterbitkan 2023-11-01
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  9. 9
    P486: Establishing normative collagen X levels in blood in individuals with achondroplasia: Application to understand growth

    P486: Establishing normative collagen X levels in blood in individuals with achondroplasia: Application to understand growth oleh Julie Hoover-Fong, Mary Ellen Little, Janet Legare, Peggy Modaff, Lorena Dujmusic, Jacqueline Hecht, Maria Serna, S. Shahrukh Hashmi, David Rodriguez-Buritica, Michael Bober

    Diterbitkan 2023-01-01
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  10. 10
    Frequency, Progression, and Current Management: Report of 16 New Cases of Nonfunctional Pancreatic Neuroendocrine Tumors in Tuberous Sclerosis Complex and Comparison With Previous Reports

    Frequency, Progression, and Current Management: Report of 16 New Cases of Nonfunctional Pancreatic Neuroendocrine Tumors in Tuberous Sclerosis Complex and Comparison With Previous... oleh Kate Mowrey, Hope Northrup, Peyton Rougeau, S. Shahrukh Hashmi, Darcy A. Krueger, Darcy A. Krueger, Daniel Ebrahimi-Fakhari, Daniel Ebrahimi-Fakhari, Alexander J. Towbin, Alexander J. Towbin, Andrew T. Trout, Andrew T. Trout, Jamie K. Capal, Jamie K. Capal, David Neal Franz, David Neal Franz, David Rodriguez-Buritica

    Diterbitkan 2021-04-01
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