Search Results - Verscaj, Courtney P.

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    Raine syndrome: Prenatally identified severe craniofacial phenotype with multisuture synostosis and brain abnormalities associated with variants in FAM20C

    Raine syndrome: Prenatally identified severe craniofacial phenotype with multisuture synostosis and brain abnormalities associated with variants in FAM20C by Verscaj, Courtney P., Smith, Carly, Homeyer, Margaret, Matalon, Dena R.

    Published in Prenatal diagnosis
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  2. 2
    MT‐ATP6 mitochondrial disease identified by newborn screening reveals a distinct biochemical phenotype

    MT‐ATP6 mitochondrial disease identified by newborn screening reveals a distinct biochemical phenotype by Tise, Christina G., Verscaj, Courtney P., Mendelsohn, Bryce A., Woods, Jeremy, Lee, Chung U., Enns, Gregory M., Stander, Zinandré, Hall, Patricia L., Cowan, Tina M., Cusmano‐Ozog, Kristina P.

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    A homozygous Gly470Ala variant in PEX6 causes severe Zellweger spectrum disorder

    A homozygous Gly470Ala variant in PEX6 causes severe Zellweger spectrum disorder by Galarreta, Carolina I., Wong, Karen, Carmichael, Jason, Woods, Jeremy, Tise, Christina G., Niehaus, Annie D., Schildt, Alison J., Verscaj, Courtney P., Cusmano‐Ozog, Kristina P.

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  4. 4
    Characterization of the prenatal renal phenotype associated with 17q12, HNF1B, microdeletions

    Characterization of the prenatal renal phenotype associated with 17q12, HNF1B, microdeletions by Verscaj, Courtney P, Velez-Bartolomei, Frances, Bodle, Ethan, Chan, Katie, Lyons, Michael J, Thorson, Willa, Tan, Wen-Hann, Rodig, Nancy, Graham, Jr, John M, Peron, Angela, Quintero-Rivera, Fabiola, Zackai, Elaine H, Thomas, Mary Ann, Stevens, Cathy A, Adam, Margaret P, Bird, Lynne M, Jones, Marilyn C, Matalon, Dena R

    Published in Prenatal diagnosis
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    Raine syndrome: Prenatally identified severe craniofacial phenotype with multisuture synostosis and brain abnormalities associated with variants in FAM2 0C

    Raine syndrome: Prenatally identified severe craniofacial phenotype with multisuture synostosis and brain abnormalities associated with variants in FAM2 0C by Verscaj, Courtney P., Smith, Carly, Homeyer, Margaret, Matalon, Dena R.

    Published in Prenatal diagnosis
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  6. 6
    Conflicts Between Non-Directive Counseling and Unbiased Patient Care: the Influence of Medical Students’ Personal Beliefs on Proposed Huntington’s Disease Genetic Testing Recommendations

    Conflicts Between Non-Directive Counseling and Unbiased Patient Care: the Influence of Medical Students’ Personal Beliefs on Proposed Huntington’s Disease Genetic Testing Recommend... by Mundluru, Shankar N., Therkelsen, Kate E., Verscaj, Courtney P., Dasgupta, Shoumita

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