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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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2
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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Zebrafish Models of Neurodevelopmental Disorders: Limitations and Benefits of Current Tools and Techniques
Zebrafish Models of Neurodevelopmental Disorders: Limitations and Benefits of Current Tools and Techniques
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Zebrafish Models of Neurodevelopmental Disorders: Limitations and Benefits of Current Tools and Techniques

Vaz, Raquel ; Hofmeister, Wolfgang ; Lindstrand, Anna

International journal of molecular sciences, 2019-03-14, Vol.20 (6), p.1296 [Peer Reviewed Journal]

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4
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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5
Loqusdb: added value of an observations database of local genomic variation
Loqusdb: added value of an observations database of local genomic variation
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Loqusdb: added value of an observations database of local genomic variation

Magnusson, Måns ; Eisfeldt, Jesper ; Nilsson, Daniel ; Rosenbaum, Adam ; Wirta, Valtteri ; Lindstrand, Anna ; Wedell, Anna ; Stranneheim, Henrik

BMC bioinformatics, 2020-07-01, Vol.21 (1), p.273-273 [Peer Reviewed Journal]

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6
Meckel syndrome: Clinical and mutation profile in six fetuses
Meckel syndrome: Clinical and mutation profile in six fetuses
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Meckel syndrome: Clinical and mutation profile in six fetuses

Radhakrishnan, Periyasamy ; Nayak, Shalini S ; Shukla, Anju ; Lindstrand, Anna ; Girisha, Katta M

Clinical genetics, 2019-12, Vol.96 (6), p.560-565 [Peer Reviewed Journal]

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7
TIDDIT, an efficient and comprehensive structural variant caller for massive parallel sequencing data [version 2; peer review: 2 approved]
TIDDIT, an efficient and comprehensive structural variant caller for massive parallel sequencing data [version 2; peer review: 2 approved]
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TIDDIT, an efficient and comprehensive structural variant caller for massive parallel sequencing data [version 2; peer review: 2 approved]

Eisfeldt, Jesper ; Vezzi, Francesco ; Olason, Pall ; Nilsson, Daniel ; Lindstrand, Anna

F1000Research, 2017, Vol.6, p.664-664 [Peer Reviewed Journal]

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8
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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9
Copy-Number Variation Contributes to the Mutational Load of Bardet-Biedl Syndrome
Copy-Number Variation Contributes to the Mutational Load of Bardet-Biedl Syndrome
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Copy-Number Variation Contributes to the Mutational Load of Bardet-Biedl Syndrome

Lindstrand, Anna ; Frangakis, Stephan ; Carvalho, Claudia M.B ; Richardson, Ellen B ; McFadden, Kelsey A ; Willer, Jason R ; Pehlivan, Davut ; Liu, Pengfei ; Pediaditakis, Igor L ; Sabo, Aniko ; Lewis, Richard Alan ; Banin, Eyal ; Lupski, James R ; Davis, Erica E ; Katsanis, Nicholas

American journal of human genetics, 2016-08-04, Vol.99 (2), p.318-336 [Peer Reviewed Journal]

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10
Copy Number Variants Are Enriched in Individuals With Early-Onset Obesity and Highlight Novel Pathogenic Pathways
Copy Number Variants Are Enriched in Individuals With Early-Onset Obesity and Highlight Novel Pathogenic Pathways
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Copy Number Variants Are Enriched in Individuals With Early-Onset Obesity and Highlight Novel Pathogenic Pathways

Pettersson, Maria ; Viljakainen, Heli ; Loid, Petra ; Mustila, Taina ; Pekkinen, Minna ; Armenio, Miriam ; Andersson-Assarsson, Johanna C ; Mäkitie, Outi ; Lindstrand, Anna

The journal of clinical endocrinology and metabolism, 2017-08, Vol.102 (8), p.3029-3039 [Peer Reviewed Journal]

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