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Results 1 - 10 of 272  for Great Falls College MSU

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1
Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases
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Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases

Stessman, H.A ; Xiong, B ; Coe, B.P ; Wang, T ; Hoekzema, K ; Fenckova, M ; Kvarnung, M ; Gerdts, J ; Trinh, S ; Cosemans, N ; Vives, L ; Lin, J ; Turner, T.N ; Santen, G ; Ruivenkamp, C ; Kriek, M ; Haeringen, A. van ; Aten, E ; Friend, K ; Liebelt, J ; Barnett, C ; Haan, E ; Shaw, M ; Gecz, J ; Anderlid, B.M ; Nordgren, A ; Lindstrand, A ; Schwartz, C ; Kooy, R.F ; Vandeweyer, G ; Helsmoortel, C ; Romano, C ; Alberti, A ; Vinci, M ; Avola, E ; Giusto, S ; Courchesne, E ; Pramparo, T ; Pierce, K ; Nalabolu, S ; Amaral, D.G ; Scheffer, I.E ; Delatycki, M.B ; Lockhart, P.J ; Hormozdiari, F ; Harich, B ; Castells Nobau, A ; Xia, K ; Peeters, H ; Nordenskjold, M ; Schenck, A ; Bernier, R.A ; Eichler, E.E

Nature genetics, 2017, Vol.49 (4), p.515-526 [Peer Reviewed Journal]

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2
The genomic landscape of high hyperdiploid childhood acute lymphoblastic leukemia
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The genomic landscape of high hyperdiploid childhood acute lymphoblastic leukemia

Paulsson, Kajsa ; Lilljebjörn, Henrik ; Biloglav, Andrea ; Olsson, Linda ; Rissler, Marianne ; Castor, Anders ; Barbany, Gisela ; Fogelstrand, Linda ; Nordgren, Ann ; Sjögren, Helene ; Fioretos, Thoas ; Johansson, Bertil

Nature genetics, 2015-06, Vol.47 (6), p.672-676 [Peer Reviewed Journal]

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3
Periodontal Ehlers-Danlos Syndrome Is Caused by Mutations in C1R and C1S, which Encode Subcomponents C1r and C1s of Complement
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Periodontal Ehlers-Danlos Syndrome Is Caused by Mutations in C1R and C1S, which Encode Subcomponents C1r and C1s of Complement

Kapferer-Seebacher, Ines ; Pepin, Melanie ; Werner, Roland ; Aitman, Timothy J ; Nordgren, Ann ; Stoiber, Heribert ; Thielens, Nicole ; Gaboriaud, Christine ; Amberger, Albert ; Schossig, Anna ; Gruber, Robert ; Giunta, Cecilia ; Bamshad, Michael ; Björck, Erik ; Chen, Christina ; Chitayat, David ; Dorschner, Michael ; Schmitt-Egenolf, Marcus ; Hale, Christopher J ; Hanna, David ; Hennies, Hans Christian ; Heiss-Kisielewsky, Irene ; Lindstrand, Anna ; Lundberg, Pernilla ; Mitchell, Anna L ; Nickerson, Deborah A ; Reinstein, Eyal ; Rohrbach, Marianne ; Romani, Nikolaus ; Schmuth, Matthias ; Silver, Rachel ; Taylan, Fulya ; Vandersteen, Anthony ; Vandrovcova, Jana ; Weerakkody, Ruwan ; Yang, Margaret ; Pope, F. Michael ; Aleck, Kirk ; Banki, Zoltan ; Dudas, Joszef ; Dumfahrt, Herbert ; Haririan, Hady ; Hartsfield, James K ; Kagen, Charles N ; Lindert, Uschi ; Meitinger, Thomas ; Posch, Wilfried ; Pritz, Christian ; Ross, David ; Schroer, Richard J ; Wick, Georg ; Wildin, Robert ; Wilflingseder, Doris ; Byers, Peter H ; Zschocke, Johannes

American journal of human genetics, 2016-11-03, Vol.99 (5), p.1005-1014 [Peer Reviewed Journal]

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4
Biallelic mutations in WRAP53 result in dysfunctional telomeres, Cajal bodies and DNA repair, thereby causing Hoyeraal-Hreidarsson syndrome
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Biallelic mutations in WRAP53 result in dysfunctional telomeres, Cajal bodies and DNA repair, thereby causing Hoyeraal-Hreidarsson syndrome

Bergstrand, Sofie ; Böhm, Stefanie ; Malmgren, Helena ; Norberg, Anna ; Sundin, Mikael ; Nordgren, Ann ; Farnebo, Marianne

Cell death & disease, 2020-04-17, Vol.11 (4), p.238-238 [Peer Reviewed Journal]

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5
A SWI/SNF-related autism syndrome caused by de novo mutations in ADNP
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A SWI/SNF-related autism syndrome caused by de novo mutations in ADNP

Helsmoortel, C ; Silfhout, A.T. van ; Coe, B.P ; Vandeweyer, G ; Rooms, L ; Ende, J. van den ; Schuurs-Hoeijmakers, J.H.M ; Marcelis, C.L.M ; Willemsen, M.H ; Vissers, L.E.L.M ; Yntema, H.G ; Bakshi, M ; Wilson, M ; Witherspoon, K.T ; Malmgren, H ; Nordgren, A ; Anneren, G ; Fichera, M ; Bosco, P ; Romano, C ; Vries, L.B.A. de ; Kleefstra, T ; Kooy, R.F ; Eichler, E.E ; Aa, N. van der

Nature genetics, 2014, Vol.46 (4), p.380-384 [Peer Reviewed Journal]

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6
Gain-of-function mutation of microRNA-140 in human skeletal dysplasia
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Gain-of-function mutation of microRNA-140 in human skeletal dysplasia

Grigelioniene, Giedre ; Suzuki, Hiroshi I ; Taylan, Fulya ; Mirzamohammadi, Fatemeh ; Borochowitz, Zvi U ; Ayturk, Ugur M ; Tzur, Shay ; Horemuzova, Eva ; Lindstrand, Anna ; Weis, Mary Ann ; Grigelionis, Gintautas ; Hammarsjö, Anna ; Marsk, Elin ; Nordgren, Ann ; Nordenskjöld, Magnus ; Eyre, David R ; Warman, Matthew L ; Nishimura, Gen ; Sharp, Phillip A ; Kobayashi, Tatsuya

Nature medicine, 2019-04, Vol.25 (4), p.583-590 [Peer Reviewed Journal]

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7
Hotspots of missense mutation identify neurodevelopmental disorder genes and functional domains
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Hotspots of missense mutation identify neurodevelopmental disorder genes and functional domains

Geisheker, Madeleine R ; Heymann, Gabriel ; Wang, Tianyun ; Coe, Bradley P ; Turner, Tychele N ; Stessman, Holly A F ; Hoekzema, Kendra ; Kvarnung, Malin ; Shaw, Marie ; Friend, Kathryn ; Liebelt, Jan ; Barnett, Christopher ; Thompson, Elizabeth M ; Haan, Eric ; Guo, Hui ; Anderlid, Britt-Marie ; Nordgren, Ann ; Lindstrand, Anna ; Vandeweyer, Geert ; Alberti, Antonino ; Avola, Emanuela ; Vinci, Mirella ; Giusto, Stefania ; Pramparo, Tiziano ; Pierce, Karen ; Nalabolu, Srinivasa ; Michaelson, Jacob J ; Sedlacek, Zdenek ; Santen, Gijs W E ; Peeters, Hilde ; Hakonarson, Hakon ; Courchesne, Eric ; Romano, Corrado ; Kooy, R Frank ; Bernier, Raphael A ; Nordenskjöld, Magnus ; Gecz, Jozef ; Xia, Kun ; Zweifel, Larry S ; Eichler, Evan E

Nature neuroscience, 2017-08, Vol.20 (8), p.1043-1051 [Peer Reviewed Journal]

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8
p53 controls genomic stability and temporal differentiation of human neural stem cells and affects neural organization in human brain organoids
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p53 controls genomic stability and temporal differentiation of human neural stem cells and affects neural organization in human brain organoids

Marin Navarro, Ana ; Pronk, Robin Johan ; van der Geest, Astrid Tjitske ; Oliynyk, Ganna ; Nordgren, Ann ; Arsenian-Henriksson, Marie ; Falk, Anna ; Wilhelm, Margareta

Cell death & disease, 2020-01-23, Vol.11 (1), p.52-52 [Peer Reviewed Journal]

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9
Axial spondylometaphyseal dysplasia is also caused by NEK1 mutations
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Axial spondylometaphyseal dysplasia is also caused by NEK1 mutations

Wang, Zheng ; Horemuzova, Eva ; Iida, Aritoshi ; Guo, Long ; Liu, Ying ; Matsumoto, Naomichi ; Nishimura, Gen ; Nordgren, Ann ; Miyake, Noriko ; Tham, Emma ; Grigelioniene, Giedre ; Ikegawa, Shiro

Journal of human genetics, 2017-04, Vol.62 (4), p.503-506 [Peer Reviewed Journal]

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10
Dominant Mutations in KAT6A Cause Intellectual Disability with Recognizable Syndromic Features
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Dominant Mutations in KAT6A Cause Intellectual Disability with Recognizable Syndromic Features

Tham, Emma ; Lindstrand, Anna ; Santani, Avni ; Malmgren, Helena ; Nesbitt, Addie ; Dubbs, Holly A ; Zackai, Elaine H ; Parker, Michael J ; Millan, Francisca ; Rosenbaum, Kenneth ; Wilson, Golder N ; Nordgren, Ann

American journal of human genetics, 2015-03-05, Vol.96 (3), p.507-513 [Peer Reviewed Journal]

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