Sakkubai Naidu

Professor Emeritus

1978 …2021

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  • Endocrine and Growth Abnormalities in 4H Leukodystrophy Caused by Variants in POLR3A, POLR3B, and POLR1C

    Pelletier, F., Perrier, S., Cayami, F. K., Mirchi, A., Saikali, S., Tran, L. T., Ulrick, N., Guerrero, K., Rampakakis, E., Van Spaendonk, R. M. L., Naidu, S., Pohl, D., Gibson, W. T., Demos, M., Goizet, C., Tejera-Martin, I., Potic, A., Fogel, B. L., Brais, B., Sylvain, M. & 99 others, Sébire, G., Lourenço, C. M., Bonkowsky, J. L., Catsman-Berrevoets, C., Pinto, P. S., Tirupathi, S., Strømme, P., De Grauw, T., Gieruszczak-Bialek, D., Krägeloh-Mann, I., Mierzewska, H., Philippi, H., Rankin, J., Atik, T., Banwell, B., Benko, W. S., Blaschek, A., Bley, A., Boltshauser, E., Bratkovic, D., Brozova, K., Cimas, I., Clough, C., Corenblum, B., Dinopoulos, A., Dolan, G., Faletra, F., Fernandez, R., Fletcher, J., Garcia Garcia, M. E., Gasparini, P., Gburek-Augustat, J., Gonzalez Moron, D., Hamati, A., Harting, I., Hertzberg, C., Hill, A., Hobson, G. M., Innes, A. M., Kauffman, M., Kirwin, S. M., Kluger, G., Kolditz, P., Kotzaeridou, U., La Piana, R., Liston, E., McClintock, W., McEntagart, M., McKenzie, F., Melançon, S., Misbahuddin, A., Suri, M., Monton, F. I., Moutton, S., Murphy, R. P. J., Nickel, M., Onay, H., Orcesi, S., Özklnay, F., Patzer, S., Pedro, H., Pekic, S., Pineda Marfa, M., Pizzino, A., Plecko, B., Poll-The, B. T., Popovic, V., Rating, D., Rioux, M. F., Rodriguez Espinosa, N., Ronan, A., Ostergaard, J. R., Rossignol, E., Sanchez-Carpintero, R., Schossig, A., Senbil, N., Sønderberg Roos, L. K., Stevens, C. A., Synofzik, M., Sztriha, L., Tibussek, D., Timmann, D., Tonduti, D., Van De Warrenburg, B. P., Vázquez-López, M., Venkateswaran, S., Wasling, P., Wassmer, E., Webster, R. I., Wiegand, G., Yoon, G., Rotteveel, J., Schiffmann, R., Van Der Knaap, M. S., Vanderver, A., Martos-Moreno, G., Polychronakos, C., Wolf, N. I. & Bernard, G., Feb 1 2021, In: Journal of Clinical Endocrinology and Metabolism. 106, 2, p. E660-E674

    Research output: Contribution to journalArticlepeer-review

    Open Access
  • Correction: GATAD2B-associated neurodevelopmental disorder (GAND): clinical and molecular insights into a NuRD-related disorder (Genetics in Medicine, (2020), 10.1038/s41436-019-0747-z)

    The Undiagnosed Diseases Network, Apr 1 2020, In: Genetics in Medicine. 22, 4, p. 822 1 p.

    Research output: Contribution to journalComment/debatepeer-review

    Open Access
  • GATAD2B-associated neurodevelopmental disorder (GAND): clinical and molecular insights into a NuRD-related disorder

    The Undiagnosed Diseases Network, May 1 2020, In: Genetics in Medicine. 22, 5, p. 878-888 11 p.

    Research output: Contribution to journalArticlepeer-review

  • Intellectual and Developmental Disabilities Research Centers: A Multidisciplinary Approach to Understand the Pathogenesis of Methyl-CpG Binding Protein 2-related Disorders

    Fagiolini, M., Patrizi, A., LeBlanc, J., Jin, L. W., Maezawa, I., Sinnett, S., Gray, S. J., Molholm, S., Foxe, J. J., Johnston, M. V., Naidu, S., Blue, M., Hossain, A., Kadam, S., Zhao, X., Chang, Q., Zhou, Z. & Zoghbi, H., Oct 1 2020, In: Neuroscience. 445, p. 190-206 17 p.

    Research output: Contribution to journalReview articlepeer-review

  • Loss-of-function mutations in UDP-Glucose 6-Dehydrogenase cause recessive developmental epileptic encephalopathy

    Hengel, H., Bosso-Lefèvre, C., Grady, G., Szenker-Ravi, E., Li, H., Pierce, S., Lebigot, É., Tan, T. T., Eio, M. Y., Narayanan, G., Utami, K. H., Yau, M., Handal, N., Deigendesch, W., Keimer, R., Marzouqa, H. M., Gunay-Aygun, M., Muriello, M. J., Verhelst, H., Weckhuysen, S. & 65 others, Mahida, S., Naidu, S., Thomas, T. G., Lim, J. Y., Tan, E. S., Haye, D., Willemsen, M. A. A. P., Oegema, R., Mitchell, W. G., Pierson, T. M., Andrews, M. V., Willing, M. C., Rodan, L. H., Barakat, T. S., van Slegtenhorst, M., Gavrilova, R. H., Martinelli, D., Gilboa, T., Tamim, A. M., Hashem, M. O., AlSayed, M. D., Abdulrahim, M. M., Al-Owain, M., Awaji, A., Mahmoud, A. A. H., Faqeih, E. A., Asmari, A. A., Algain, S. M., Jad, L. A., Aldhalaan, H. M., Helbig, I., Koolen, D. A., Riess, A., Kraegeloh-Mann, I., Bauer, P., Gulsuner, S., Stamberger, H., Ng, A. Y. J., Tang, S., Tohari, S., Keren, B., Schultz-Rogers, L. E., Klee, E. W., Barresi, S., Tartaglia, M., Mor-Shaked, H., Maddirevula, S., Begtrup, A., Telegrafi, A., Pfundt, R., Schüle, R., Ciruna, B., Bonnard, C., Pouladi, M. A., Stewart, J. C., Claridge-Chang, A., Lefeber, D. J., Alkuraya, F. S., Mathuru, A. S., Venkatesh, B., Barycki, J. J., Simpson, M. A., Jamuar, S. S., Schöls, L. & Reversade, B., Dec 1 2020, In: Nature communications. 11, 1, 595.

    Research output: Contribution to journalArticlepeer-review

    Open Access
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