Search Results - Upadia, J.

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  1. 1
    Subtelomeric microdeletion in chromosome 20p13 associated with short stature

    Subtelomeric microdeletion in chromosome 20p13 associated with short stature by Liu, J., Li, Y., Andersson, H. C., Upadia, J.

    Published in Clinical case reports
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  2. 2
    P.26 Impact of arginine-fortified formula on lysine levels in GA1 siblings: a case report

    P.26 Impact of arginine-fortified formula on lysine levels in GA1 siblings: a case report by Noh, GS, Upadia, J

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  3. 3
    34 - A perinatal case of extreme neuroanatomical abnormalities and end stage renal disease in chromosome 17q12 deletion syndrome

    34 - A perinatal case of extreme neuroanatomical abnormalities and end stage renal disease in chromosome 17q12 deletion syndrome by Cyrus, K, Gupta, R, Tufton, A, Upadia, J, Vegh, N, Johnson, MG

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  4. 4
    546 - Undetectable C1Q, hyper-IgM, hypogammaglobulinemia: whole exome sequencing reveals pathogenic variant in magnesium transporter 1 (MAGT1)

    546 - Undetectable C1Q, hyper-IgM, hypogammaglobulinemia: whole exome sequencing reveals pathogenic variant in magnesium transporter 1 (MAGT1) by Leo, SL, Upadia, J, Valley, S, Wall, LA

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  5. 5
    A perinatal case of extreme neuroanatomical abnormalities and end stage renal disease in chromosome 17q12 deletion syndrome

    A perinatal case of extreme neuroanatomical abnormalities and end stage renal disease in chromosome 17q12 deletion syndrome by Cyrus, K, Gupta, R, Tufton, A, Upadia, J, Vegh, N, Johnson, MG

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  6. 6
    Undetectable C1Q, hyper-IgM, hypogammaglobulinemia: whole exome sequencing reveals pathogenic variant in magnesium transporter 1 (MAGT1)

    Undetectable C1Q, hyper-IgM, hypogammaglobulinemia: whole exome sequencing reveals pathogenic variant in magnesium transporter 1 (MAGT1) by Leo, SL, Upadia, J, Valley, S, Wall, LA

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  7. 7
    Biochemical and molecular characteristics among infants with abnormal newborn screen for very-long-chain acyl-CoA dehydrogenase deficiency: A single center experience

    Biochemical and molecular characteristics among infants with abnormal newborn screen for very-long-chain acyl-CoA dehydrogenase deficiency: A single center experience by Upadia, Jariya, Noh, Grace, Lefante, John J., Andersson, Hans C.

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  8. 8
    A case report of chromosome 17q22‐qter trisomy with distinct clinical presentation and review of the literature

    A case report of chromosome 17q22‐qter trisomy with distinct clinical presentation and review of the literature by Upadia, Jariya, Philips, Joseph B., Robin, Nathaniel H., Lose, Edward J., Mikhail, Fady M.

    Published in Clinical case reports
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  9. 9
    A case report of chromosome 17q22-qter trisomy with distinct clinical presentation and review of the literature

    A case report of chromosome 17q22-qter trisomy with distinct clinical presentation and review of the literature by Upadia, Jariya, Philips, Joseph B, Robin, Nathaniel H, Lose, Edward J, Mikhail, Fady M

    Published in Clinical case reports
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