Search Results - Betsalel, Ofir T

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  1. 1
    Detection of variants in SLC6A8 and functional analysis of unclassified missense variants

    Detection of variants in SLC6A8 and functional analysis of unclassified missense variants by Betsalel, Ofir T., Pop, Ana, Rosenberg, Efraim H., Fernandez-Ojeda, Matilde, Jakobs, Cornelis, Salomons, Gajja S.

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  2. 2
    Functional characterization of missense variants in the creatine transporter gene (SLC6A8): improved diagnostic application

    Functional characterization of missense variants in the creatine transporter gene (SLC6A8): improved diagnostic application by Rosenberg, Efraim H., Martínez Muñoz, Cristina, Betsalel, Ofir T., van Dooren, Silvy J.M., Fernandez, Matilde, Jakobs, Cornelis, deGrauw, Ton J., Kleefstra, Tjitske, Schwartz, Charles E., Salomons, Gajja S.

    Published in Human mutation
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  3. 3
    Developmental progress and creatine restoration upon long-term creatine supplementation of a patient with arginine:glycine amidinotransferase deficiency

    Developmental progress and creatine restoration upon long-term creatine supplementation of a patient with arginine:glycine amidinotransferase deficiency by Ndika, Joseph D.T., Johnston, Kathreen, Barkovich, James A., Wirt, Michael D., O'Neill, Patricia, Betsalel, Ofir T., Jakobs, Cornelis, Salomons, Gajja S.

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  4. 4
    Characterization of novel SLC6A8 variants with the use of splice-site analysis tools and implementation of a newly developed LOVD database

    Characterization of novel SLC6A8 variants with the use of splice-site analysis tools and implementation of a newly developed LOVD database by Betsalel, Ofir T, Rosenberg, Efraim H, Almeida, Ligia S, Kleefstra, Tjitske, Schwartz, Charles E, Valayannopoulos, Vassili, Abdul-Rahman, Omar, Poplawski, Nicola, Vilarinho, Laura, Wolf, Philipp, den Dunnen, Johan T, Jakobs, Cornelis, Salomons, Gajja S

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  5. 5
    Detection of low-level somatic and germline mosaicism by denaturing high-performance liquid chromatography in a EURO-MRX family with SLC6A8 deficiency

    Detection of low-level somatic and germline mosaicism by denaturing high-performance liquid chromatography in a EURO-MRX family with SLC6A8 deficiency by Betsalel, Ofir T., van de Kamp, Jiddeke M., Martínez-Muñoz, Cristina, Rosenberg, Efraim H., de Brouwer, Arjan P. M., Pouwels, Petra J. W., van der Knaap, Marjo S., Mancini, Grazia M. S., Jakobs, Cornelis, Hamel, Ben C. J., Salomons, Gajja S.

    Published in Neurogenetics
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  6. 6
    Measurement of Allelic-Expression Ratios in Trisomy 21 Placentas by Quencher Extension of Heterozygous Samples Identified by Partially Denaturing HPLC

    Measurement of Allelic-Expression Ratios in Trisomy 21 Placentas by Quencher Extension of Heterozygous Samples Identified by Partially Denaturing HPLC by Go, Attie T.J.I, Visser, Allerdien, Betsalel, Ofir T, van Vugt, John M.G, Blankenstein, Marinus A, Oudejans, Cees B.M

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