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