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Results 1 - 10 of 87  for Great Falls College MSU

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Exploring human genetic skeletal disorders provides important insights into skeletogenesis and elucidates basic developmental signaling pathways
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Exploring human genetic skeletal disorders provides important insights into skeletogenesis and elucidates basic developmental signaling pathways

Grigelioniene, Giedre ; Nishimura, Gen

EBioMedicine, 2020-12, Vol.62, p.103091-103091 [Peer Reviewed Journal]

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2
Genetic epidemiology, prevalence, and genotype-phenotype correlations in the Swedish population with osteogenesis imperfecta
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Genetic epidemiology, prevalence, and genotype-phenotype correlations in the Swedish population with osteogenesis imperfecta

Lindahl, Katarina ; Åström, Eva ; Rubin, Carl-Johan ; Grigelioniene, Giedre ; Malmgren, Barbro ; Ljunggren, Östen ; Kindmark, Andreas

European journal of human genetics : EJHG, 2015-08, Vol.23 (8), p.1042-1050 [Peer Reviewed Journal]

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3
Genotype‐Phenotype Correlation of PLOD2 Skeletal Dysplasias Using Structural Information
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Genotype‐Phenotype Correlation of PLOD2 Skeletal Dysplasias Using Structural Information

Tham, Emma ; Grigelionis, Gintautas ; Hammarsjö, Anna ; Grigelioniene, Giedre

Journal of bone and mineral research, 2018-07, Vol.33 (7), p.1377-1378 [Peer Reviewed Journal]

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4
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
Deconvolution of seed and RNA-binding protein crosstalk in RNAi-based functional genomics
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Deconvolution of seed and RNA-binding protein crosstalk in RNAi-based functional genomics

Suzuki, Hiroshi I ; Spengler, Ryan M ; Grigelioniene, Giedre ; Kobayashi, Tatsuya ; Sharp, Phillip A

Nature genetics, 2018-05, Vol.50 (5), p.657-661 [Peer Reviewed Journal]

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6
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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7
Growth in achondroplasia: Development of height, weight, head circumference, and body mass index in a European cohort
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Growth in achondroplasia: Development of height, weight, head circumference, and body mass index in a European cohort

Merker, Andrea ; Neumeyer, Luitgard ; Hertel, Niels Thomas ; Grigelioniene, Giedre ; Mäkitie, Outi ; Mohnike, Klaus ; Hagenäs, Lars

American journal of medical genetics. Part A, 2018-08, Vol.176 (8), p.1723-1734 [Peer Reviewed Journal]

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8
Spondyloocular Syndrome: Novel Mutations in XYLT2 Gene and Expansion of the Phenotypic Spectrum
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Spondyloocular Syndrome: Novel Mutations in XYLT2 Gene and Expansion of the Phenotypic Spectrum

Taylan, Fulya ; Costantini, Alice ; Coles, Nicole ; Pekkinen, Minna ; Héon, Elise ; Şıklar, Zeynep ; Berberoğlu, Merih ; Kämpe, Anders ; Kıykım, Ertuğrul ; Grigelioniene, Giedre ; Tüysüz, Beyhan ; Mäkitie, Outi

Journal of bone and mineral research, 2016-08, Vol.31 (8), p.1577-1585 [Peer Reviewed Journal]

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9
Neu-Laxova Syndrome Is a Heterogeneous Metabolic Disorder Caused by Defects in Enzymes of the L-Serine Biosynthesis Pathway
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Neu-Laxova Syndrome Is a Heterogeneous Metabolic Disorder Caused by Defects in Enzymes of the L-Serine Biosynthesis Pathway

Acuna-Hidalgo, Rocio ; Schanze, Denny ; Kariminejad, Ariana ; Nordgren, Ann ; Kariminejad, Mohamad Hasan ; Conner, Peter ; Grigelioniene, Giedre ; Nilsson, Daniel ; Nordenskjöld, Magnus ; Wedell, Anna ; Freyer, Christoph ; Wredenberg, Anna ; Wieczorek, Dagmar ; Gillessen-Kaesbach, Gabriele ; Kayserili, Hülya ; Elcioglu, Nursel ; Ghaderi-Sohi, Siavash ; Goodarzi, Payman ; Setayesh, Hamidreza ; van de Vorst, Maartje ; Steehouwer, Marloes ; Pfundt, Rolph ; Krabichler, Birgit ; Curry, Cynthia ; MacKenzie, Malcolm G ; Boycott, Kym M ; Gilissen, Christian ; Janecke, Andreas R ; Hoischen, Alexander ; Zenker, Martin

American journal of human genetics, 2014-09-04, Vol.95 (3), p.285-293 [Peer Reviewed Journal]

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10
Expanding the Clinical Spectrum of Phenotypes Caused by Pathogenic Variants in PLOD2
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Expanding the Clinical Spectrum of Phenotypes Caused by Pathogenic Variants in PLOD2

Leal, Gabriela Ferraz ; Nishimura, Gen ; Voss, Ulrika ; Bertola, Débora Romeo ; Åström, Eva ; Svensson, Johan ; Yamamoto, Guilherme Lopes ; Hammarsjö, Anna ; Horemuzova, Eva ; Papadogiannakis, Nikos ; Iwarsson, Erik ; Grigelioniene, Giedre ; Tham, Emma

Journal of bone and mineral research, 2018-04, Vol.33 (4), p.753-760 [Peer Reviewed Journal]

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