Disruption of a long distance regulatory region upstream of SOX9 in isolated disorders of sex development
Benko, Sabina, Gordon, Christopher T, Mallet, Delphine, Sreenivasan, Rajini, Thauvin-Robinet, Christel, Brendehaug, Atle, Thomas, Sophie, Bruland, Ove, David, Michel, Nicolino, Marc, Labalme, Audrey, Sanlaville, Damien, Callier, Patrick, Malan, Valerie, Huet, Frédéric, Molven, Anders, Dijoud, Frédérique, Munnich, Arnold, Faivre, Laurence, Amiel, Jeanne, Harley, Vincent, Houge, Gunnar, Morel, Yves, Lyonnet, Stanislas
Published in Journal of medical genetics (01.12.2011)
Published in Journal of medical genetics (01.12.2011)
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Journal Article
Randomized, controlled trial of miglustat in Gaucher's disease type 3
Schiffmann, Raphael, FitzGibbon, Edmond J., Harris, Chris, DeVile, Catherine, Davies, Elin H., Abel, Larry, Van Schaik, Ivo N., Benko, William S., Timmons, Margaret, Ries, Markus, Vellodi, Ashok
Published in Annals of neurology (01.11.2008)
Published in Annals of neurology (01.11.2008)
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Journal Article
Long-range regulation at the SOX9 locus in development and disease
Gordon, C T, Tan, T Y, Benko, S, FitzPatrick, D, Lyonnet, S, Farlie, P G
Published in Journal of Medical Genetics (01.10.2009)
Published in Journal of Medical Genetics (01.10.2009)
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Journal Article
Book Review
CSF and Blood Levels of GFAP in Alexander Disease
Jany, Paige L, Agosta, Guillermo E, Benko, William S, Eickhoff, Jens C, Keller, Stephanie R, Köehler, Wolfgang, Koeller, David, Mar, Soe, Naidu, Sakkubai, Marie Ness, Jayne, Pareyson, Davide, Renaud, Deborah L, Salsano, Ettore, Schiffmann, Raphael, Simon, Julie, Vanderver, Adeline, Eichler, Florian, van der Knaap, Marjo S, Messing, Albee
Published in eNeuro (01.09.2015)
Published in eNeuro (01.09.2015)
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Journal Article
Low occurrence of the HLA-C04:09N allele in a large Hungarian cohort
Bors, A., Inotai, D., Andrikovics, H., Benkő, S., Boros-Major, A., Illés, Z., Szilvási, A., Gelle-Hossó, A., Rajczy, K., Tordai, A.
Published in Tissue antigens (01.07.2015)
Published in Tissue antigens (01.07.2015)
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Membrane Physical State Controls the Signaling Mechanism of the Heat Shock Response in Synechocystis PCC 6803: Identification of hsp17 as a ``Fluidity Gene
Horvath, Ibolya, Glatz, Attila, Varvasovszki, Viktoria, Torok, Zsolt, Pali, Tibor, Balogh, Gabor, Kovacs, Eszter, Nadasdi, Levente, Benko, Sandor, Joo, Ferenc, Vigh, Laszlo
Published in Proceedings of the National Academy of Sciences - PNAS (31.03.1998)
Published in Proceedings of the National Academy of Sciences - PNAS (31.03.1998)
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Journal Article
Uniparental disomy of chromosome 1 causing concurrent Charcot-Marie-Tooth and Gaucher disease Type 3
Benko, W S, Hruska, K S, Nagan, N, Goker-Alpan, O, Hart, P S, Schiffmann, R, Sidransky, E
Published in Neurology (18.03.2008)
Published in Neurology (18.03.2008)
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Journal Article
Early-Onset Vascular Leukoencephalopathy Caused by Bi-Allelic NOTCH3 Variants
Stellingwerff, Menno D., Nulton, Corinne, Helman, Guy, Roosendaal, Stefan D., Benko, William S., Pizzino, Amy, Bugiani, Marianna, Vanderver, Adeline, Simons, Cas, van der Knaap, Marjo S.
Published in Neuropediatrics (01.04.2022)
Published in Neuropediatrics (01.04.2022)
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Journal Article
Cardiorespiratory effects of naloxone in children
Hasan, Rashed A, Benko, Amy S, Nolan, Brian M, Campe, Julie, Duff, Jenny, Zureikat, George Y
Published in The Annals of pharmacotherapy (01.11.2003)
Published in The Annals of pharmacotherapy (01.11.2003)
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Journal Article
P098 Neonatal alloimmune thrombocytopenia serological investigations in 2006
Hriczkó, J, Jakab, J, Zsigmond-Soós, I, Benkö, S, Kalász, L, Petri, I
Published in Blood reviews (2007)
Published in Blood reviews (2007)
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Journal Article
Hospital Utilization Among Rural Children Served by Pediatric Neurology Telemedicine Clinics
Dayal, Parul, Chang, Celia H, Benko, William S, Pollock, Brad H, Crossen, Stephanie S, Kissee, Jamie, Ulmer, Aaron M, Hoch, Jeffrey S, Warner, Leslie, Marcin, James P
Published in JAMA network open (02.08.2019)
Published in JAMA network open (02.08.2019)
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Journal Article
Appointment completion in pediatric neurology telemedicine clinics serving underserved patients
Dayal, Parul, Chang, Celia H, Benko, William S, Ulmer, Aaron M, Crossen, Stephanie S, Pollock, Brad H, Hoch, Jeffrey S, Kissee, Jamie L, Warner, Leslie, Marcin, James P
Published in Neurology. Clinical practice (01.08.2019)
Published in Neurology. Clinical practice (01.08.2019)
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Journal Article
O17 Frequency of red blood cell antibodies in adult patients
Gazdag, E, Jakab, J, Zsigmond-Soós, I, Golács, N, Benkö, S, Vagner, M, Kristófi, Zs, Bedekovich, N
Published in Blood reviews (2007)
Published in Blood reviews (2007)
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P024 Variations in culture conditions profoundly alter the lipid composition of mammalian cells: implications for the stress response modulation
Benkö, S, Balogh, G, Horváth, I, Liebisch, G, Maslyanko, A, Schmitz, G, Harwood, JL, Vígh, L
Published in Blood reviews (2007)
Published in Blood reviews (2007)
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Journal Article
The NLRP3 inflammasome - interleukin 1 pathway as a therapeutic target in gout
Szekanecz, Zoltán, Szamosi, Szilvia, Kovács, Gergő E., Kocsis, Elek, Benkő, Szilvia
Published in Archives of biochemistry and biophysics (30.07.2019)
Published in Archives of biochemistry and biophysics (30.07.2019)
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