학술논문
'학술논문'
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IHH enhancer variant within neighboring NHEJ1 intron causes microphthalmia anophthalmia and coloboma
Academic Journal
Wormser, O.; Perez, Y.; Dolgin, V.; Yogev, Y.; Hadar, N.; Freund, O.; Drabkin, M.; Halperin, D.; Birk, O.S.; Kamali, B.; Tangeman, J.A.; Grajales-Esquivel, E.; Del Rio-Tsonis, K.; Gradstein, L.; Irron, I.; Birnbaum, R.Y.; Akler, G.
In: npj Genomic Medicine . (npj Genomic Medicine, December 2023, 8(1))
Academic Journal
In: Frontiers in Cell and Developmental Biology . (Frontiers in Cell and Developmental Biology, 2023, 11)
Academic Journal
Hirsch, N.; Dahan, I.; Avni, M.; Birnbaum, R.Y.; D’haene, E.; Vergult, S.; Vidal-García, M.; Hallgrímsson, B.; Magini, P.; Graziano, C.; Severi, G.; Bonora, E.; Nardone, A.M.; Brancati, F.; Fernández-Jaén, A.; Rory, O.J.
In: Genome Research . (Genome Research, July 2022, 32(8):1242-1253)
Academic Journal
Mytlis, A.; Kumar, V.; Deis, R.; Hart, N.; Levy, K.; Shawahny, A.; Ahmad, A.; Eitan, H.; Nather, F.; Elkouby, Y.M.; Qiu, T.; Roy, S.; Masek, M.; Bachmann-Gagescu, R.; Adar-Levor, S.; Birnbaum, R.Y.; Elia, N.
In: Science . (Science, 17 June 2022, 376(6599))
Academic Journal
Devine, J.; Vidal-García, M.; Liu, W.; Lo Vercio, L.D.; Marchini, M.; Radford, B.; Jirik, F.R.; Hemberger, M.; Dean, W.; Forkert, N.D.; Hallgrímsson, B.; Unger, C.M.; Rolian, C.; Neves, A.; Green, R.M.; Richbourg, H.A.; Young, N.M.; Marcucio, R.S.; Nickle, A.C.; Merrill, A.E.; Gonzalez, P.N.; Schuler, R.E.; Bugacov, A.; Percival, C.J.; Williams, T.; Niswander, L.; Calof, A.L.; Lander, A.D.; Visel, A.; Cheverud, J.M.; Klein, O.D.; Birnbaum, R.Y.; Ackermann, R.R.; Graf, D.; Murray, S.A.; Westerberg, H.
In: Scientific Data . (Scientific Data, December 2023, 10(1))
Academic Journal
In: Nature . (Nature, 9 November 2023, 623(7986):253)
Academic Journal
Adar-Levor, S.; Nachmias, D.; Gal-Oz, S.T.; Jahn, Y.M.; Birnbaum, R.Y.; Elia, N.; Peyrieras, N.; Zaritsky, A.
In: Proceedings of the National Academy of Sciences of the United States of America . (Proceedings of the National Academy of Sciences of the United States of America, 13 April 2021, 118(15))
Academic Journal
In: Cell Death and Disease . (Cell Death and Disease, 1 October 2019, 10(10))
Academic Journal
In: Human molecular genetics . (Human molecular genetics, 1 May 2019, 28(9):1487-1497)
Academic Journal
Perez, Y.; Kadir, R.; Wormser, O.; Birk, O.S.; Bar-Yaacov, R.; Birnbaum, R.Y.; Shelef, I.; Flusser, H.
In: Brain . (Brain, 1 March 2019, 142(3):574-585)
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[AR] Birnbaum, R.Y.
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