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182. Characterization and AAV-Mediated Correction of Xeroderma Pigmentosum-Cockayne Syndrome (XP/CS)
2015
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American journal of human genetics, 2021-03, Vol.108 (3), p.395-399
2021
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Journal of inherited metabolic disease, 2013-11, Vol.36 (6), p.913-921
- Wortmann, Saskia B.
- Kluijtmans, Leo A. J.
- Rodenburg, Richard J.
- Sass, Jörn Oliver
- Nouws, Jessica
- van Kaauwen, Edwin P.
- Kleefstra, Tjitske
- Tranebjaerg, Lisbeth
- de Vries, Maaike C.
- Isohanni, Pirjo
- Walter, Katharina
- Alkuraya, Fowzan S.
- Smuts, Izelle
- Reinecke, Carolus J.
- van der Westhuizen, Francois H.
- Thorburn, David
- Smeitink, Jan A. M.
- Morava, Eva
- Wevers, Ron A.
2013
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Molecular therapy, 2016-05, Vol.24, p.S144-S144
2016
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Annals of translational medicine, 2015-09, Vol.3 (Suppl 2)
2015
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Circulation (New York, N.Y.), 2022-11, Vol.146 (Suppl_1)
2022
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Cancer research (Chicago, Ill.), 2013-04, Vol.73 (8_Supplement), p.1923-1923
2013
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Cancer research (Chicago, Ill.), 2020-08, Vol.80 (16_Supplement), p.2509-2509
2020
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Cancer research (Chicago, Ill.), 2019-07, Vol.79 (13_Supplement), p.3427-3427
2019
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Cancer research (Chicago, Ill.), 2011-04, Vol.71 (8_Supplement), p.3768-3768
2011
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Cell reports (Cambridge), 2015-01, Vol.10 (2), p.148-161
- Alazami, Anas M.
- Patel, Nisha
- Shamseldin, Hanan E.
- Anazi, Shamsa
- Al-Dosari, Mohammed S.
- Alzahrani, Fatema
- Hijazi, Hadia
- Alshammari, Muneera
- Aldahmesh, Mohammed A.
- Salih, Mustafa A.
- Faqeih, Eissa
- Alhashem, Amal
- Bashiri, Fahad A.
- Al-Owain, Mohammed
- Kentab, Amal Y.
- Sogaty, Sameera
- Al Tala, Saeed
- Temsah, Mohamad-Hani
- Tulbah, Maha
- Aljelaify, Rasha F.
- Alshahwan, Saad A.
- Seidahmed, Mohammed Zain
- Alhadid, Adnan A.
- Aldhalaan, Hesham
- AlQallaf, Fatema
- Kurdi, Wesam
- Alfadhel, Majid
- Babay, Zainab
- Alsogheer, Mohammad
- Kaya, Namik
- Al-Hassnan, Zuhair N.
- Abdel-Salam, Ghada M.H.
- Al-Sannaa, Nouriya
- Al Mutairi, Fuad
- El Khashab, Heba Y.
- Bohlega, Saeed
- Jia, Xiaofei
- Nguyen, Henry C.
- Hammami, Rakad
- Adly, Nouran
- Mohamed, Jawahir Y.
- Abdulwahab, Firdous
- Ibrahim, Niema
- Naim, Ewa A.
- Al-Younes, Banan
- Meyer, Brian F.
- Hashem, Mais
- Shaheen, Ranad
- Xiong, Yong
- Abouelhoda, Mohamed
- Aldeeri, Abdulrahman A.
- Monies, Dorota M.
- Alkuraya, Fowzan S.
2015
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American Journal of Medical Genetics Part A, 2009, Vol.149A (4), p.662-665
2009
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American journal of medical genetics. Part A, 2009-04, Vol.149A (4), p.662-665
2009
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JOURNAL OF HEPATOLOGY, 2023-06, Vol.78, p.S969-S970
- Hansen, Bettina
- Valcheva, Velichka
- Yu, Qifeng
- van Wessel, Daan
- Thompson, Richard
- Gonzalès, Emmanuel
- Jankowska, Irena
- Sokal, Etienne
- Grammatikopoulos, Tassos
- Kadaristiana, Agustina
- Jacquemin, Emmanuel
- Spraul, Anne
- Lipiński, Patryk
- Czubkowski, Piotr
- Rock, Nathalie
- Shagrani, Mohammad
- Kumar, Kishwer
- Alkuraya, Fowzan
- Sateesh, Meddirevula
- Broering, Dieter Clemens
- Nicastro, Emanuele
- Kelly, Deirdre
- Nebbia, Gabriella
- Arnell, Henrik
- Fischler, Björn
- Serranti, Daniele
- Arıkan, Cigdem
- Polat, Esra
- Debray, Dominique
- Lacaille, Florence
- Gonçalves, Cristina
- Llanillo, Loreto Hierro
- Bartolo, Gema Muñoz
- Mozer-Glassberg, Yael
- Azaz, Amer
- Brecelj, Jernej
- Dezsőfi, Antal
- Calvo, Pier Luigi
- Grabhorn, Enke
- Sturm, Ekkehard
- van der Woerd, Wendy L.
- Kamath, Binita M.
- Wang, Jian-She
- Liting, Li
- Durmaz, Ozlem
- Önal, Zerrin
- Felzen, Antonia
- Nomden, Mark
- Sonajalg, Jaak
- Stein, Philip
- Ni, Quanhong
- Clemson, Christine
- Mattsson, Jan
- Verkade, Henkjan J.
2023
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Annals of clinical and translational neurology, 2022-08, Vol.9 (8), p.1276-1288
- Thomas, Ajay X.
- Link, Nichole
- Robak, Laurie A.
- Demmler‐Harrison, Gail
- Pao, Emily C.
- Squire, Audrey E.
- Michels, Savannah
- Cohen, Julie S.
- Comi, Anne
- Prontera, Paolo
- Verrotti di Pianella, Alberto
- Di Cara, Giuseppe
- Garavelli, Livia
- Caraffi, Stefano Giuseppe
- Fusco, Carlo
- Zuntini, Roberta
- Parks, Kendall C.
- Sherr, Elliott H.
- Hashem, Mais O.
- Maddirevula, Sateesh
- Alkuraya, Fowzan S.
- Contractar, Isphana A. F.
- Neil, Jennifer E.
- Walsh, Christopher A.
- Bellen, Hugo J.
- Chao, Hsiao‐Tuan
- Clark, Robin D.
- Mirzaa, Ghayda M.
2022
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Human molecular genetics, 2023-04, Vol.32 (9), p.1429-1438
2023
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Human genetics, 2016-11, Vol.135 (11), p.1233-1239
2016
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Human genetics, 2013-11, Vol.132 (11), p.1197-1211
2013
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Human genetics, 2015-08, Vol.134 (8), p.815-822
2015
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Brain (London, England : 1878), 2013-10, Vol.136 (10), p.3096-3105
- Webb, Emma A
- AlMutair, Angham
- Kelberman, Daniel
- Bacchelli, Chiara
- Chanudet, Estelle
- Lescai, Francesco
- Andoniadou, Cynthia L
- Banyan, Abdul
- Alsawaid, Al
- Alrifai, Muhammad T
- Alahmesh, Mohammed A
- Balwi, M
- Mousavy-Gharavy, Seyedeh N
- Lukovic, Biljana
- Burke, Derek
- McCabe, Mark J
- Kasia, Tessa
- Kleta, Robert
- Stupka, Elia
- Beales, Philip L
- Thompson, Dorothy A
- Chong, W. Kling
- Alkuraya, Fowzan S
- Martinez-Barbera, Juan-Pedro
- Sowden, Jane C
- Dattani, Mehul T
2013
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American journal of medical genetics. Part A, 2011-02, Vol.155A (2), p.297-300
2011
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Human genetics, 2022, Vol.141 (1), p.49-54
2022
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Prenatal diagnosis, 2001-06, Vol.21 (6), p.448-451
2001
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Journal of Biochemical and Clinical Genetics, 2018-06, Vol.1 (1), p.43-46
2018
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Nature medicine, 2020-02, Vol.26 (2), p.300-300
- Chivukula, Raghu R
- Montoro, Daniel T
- Leung, Hui Min
- Yang, Jason
- Shamseldin, Hanan E
- Taylor, Martin S
- Dougherty, Gerard W
- Zariwala, Maimoona A
- Carson, Johnny
- Daniels, M Leigh Anne
- Sears, Patrick R
- Black, Katharine E
- Hariri, Lida P
- Almogarri, Ibrahim
- Frenkel, Evgeni M
- Vinarsky, Vladimir
- Omran, Heymut
- Knowles, Michael R
- Tearney, Guillermo J
- Alkuraya, Fowzan S
- Sabatini, David M
2020
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