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1
Genome-wide association study of Hirschsprung disease detects a novel low-frequency variant at the RET locus
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Genome-wide association study of Hirschsprung disease detects a novel low-frequency variant at the RET locus

Fadista, João ; Lund, Marie ; Skotte, Line ; Geller, Frank ; Nandakumar, Priyanka ; Chatterjee, Sumantra ; Matsson, Hans ; Granström, Anna Löf ; Wester, Tomas ; Salo, Perttu ; Virtanen, Valtter ; Carstensen, Lisbeth ; Bybjerg-Grauholm, Jonas ; Hougaard, David Michael ; Pakarinen, Mikko ; Perola, Markus ; Nordenskjöld, Agneta ; Chakravarti, Aravinda ; Melbye, Mads ; Feenstra, Bjarke

European journal of human genetics : EJHG, 2018-04, Vol.26 (4), p.561-569 [Peer Reviewed Journal]

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2
Genome-wide association analyses identify variants in developmental genes associated with hypospadias
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Genome-wide association analyses identify variants in developmental genes associated with hypospadias

Geller, F ; Feenstra, B ; Carstensen, L ; Pers, T.H ; Rooij, I.A.L.M. van ; Korberg, I.B ; Choudhry, S ; Karjalainen, J.M ; Schnack, T.H ; Hollegaard, M.V ; Feitz, W.F.J ; Roeleveld, N ; Hougaard, D.M ; Hirschhorn, J.N ; Franke, L ; Baskin, L.S ; Nordenskjold, A ; Zanden, L.F.M. van der ; Melbye, M

Nature genetics, 2014, Vol.46 (9), p.957-963 [Peer Reviewed Journal]

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3
Suboptimal Psychosocial Outcomes in Patients With Congenital Adrenal Hyperplasia: Epidemiological Studies in a Nonbiased National Cohort in Sweden
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Suboptimal Psychosocial Outcomes in Patients With Congenital Adrenal Hyperplasia: Epidemiological Studies in a Nonbiased National Cohort in Sweden

Strandqvist, A ; Falhammar, H ; Lichtenstein, P ; Hirschberg, A. L ; Wedell, A ; Norrby, C ; Nordenskjöld, A ; Frisén, L ; Nordenström, A

The journal of clinical endocrinology and metabolism, 2014-04, Vol.99 (4), p.1425-1432 [Peer Reviewed Journal]

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4
ISL1 is a major susceptibility gene for classic bladder exstrophy and a regulator of urinary tract development
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ISL1 is a major susceptibility gene for classic bladder exstrophy and a regulator of urinary tract development

Zhang, R ; Knapp, M ; Suzuki, K ; Kajioka, D ; Schmidt, J.M ; Winkler, J ; Yilmaz, O ; Pleschka, M ; Cao, J ; Kockum, C.C ; Barker, G ; Holmdahl, G ; Beaman, G ; Keene, D ; Woolf, A.S ; Cervellione, R.M ; Cheng, W ; Wilkins, S ; Gearhart, J.P ; Sirchia, F ; Grazia, M. Di ; Ebert, A.K ; Rosch, W ; Ellinger, J ; Jenetzky, E ; Zwink, N ; Feitz, W.F.J ; Marcelis, C.L ; Schumacher, J ; Martinon-Torres, F ; Hibberd, M.L ; Khor, C.C ; Heilmann-Heimbach, S ; Barth, S ; Boyadjiev, S.A ; Brusco, A ; Ludwig, M ; Newman, W ; Nordenskjold, A ; Yamada, G ; Odermatt, B ; Reutter, H

Scientific reports, 2017, Vol.7 (1), p.42170-42170 [Peer Reviewed Journal]

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5
Type of Mutation and Surgical Procedure Affect Long-Term Quality of Life for Women with Congenital Adrenal Hyperplasia
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Type of Mutation and Surgical Procedure Affect Long-Term Quality of Life for Women with Congenital Adrenal Hyperplasia

Nordenskjöld, Agneta ; Holmdahl, Gundela ; Frisén, Louise ; Falhammar, Henrik ; Filipsson, Helena ; Thorén, Marja ; Janson, Per Olof ; Hagenfeldt, Kerstin

The journal of clinical endocrinology and metabolism, 2008-02, Vol.93 (2), p.380-386 [Peer Reviewed Journal]

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6
Common variants in DGKK are strongly associated with risk of hypospadias
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Common variants in DGKK are strongly associated with risk of hypospadias

Zanden, L.F. van der ; Rooij, I.A.L.M. van ; Feitz, W.F.J ; Knight, J ; Donders, A.R.T ; Renkema, K.Y ; Bongers, M.H.F ; Vermeulen, S ; Kiemeney, L.A.L.M ; Veltman, J.A ; Arias Vasquez, A ; Zhang, X ; Markljung, E ; Qiao, L ; Baskin, L.S ; Nordenskjold, A ; Roeleveld, N ; Franke, B ; Knoers, N.V.A.M

Nature genetics, 2011, Vol.43 (1), p.48-50 [Peer Reviewed Journal]

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7
Fine mapping analysis confirms and strengthens linkage of four chromosomal regions in familial hypospadias
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Fine mapping analysis confirms and strengthens linkage of four chromosomal regions in familial hypospadias

Soderhall, C ; Korberg, I.B ; Thai, H.T ; Cao, J ; Chen, Y ; Zhang, X ; Shulu, Z ; Zanden, L.F.M. van der ; Rooij, I.A.L.M. van ; Frisen, L ; Roeleveld, N ; Markljung, E ; Kockum, I ; Nordenskjold, A

European journal of human genetics : EJHG, 2015, Vol.23 (4), p.516-522 [Peer Reviewed Journal]

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8
Current models of care for disorders of sex development - results from an International survey of specialist centres
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Current models of care for disorders of sex development - results from an International survey of specialist centres

Kyriakou, Andreas ; Dessens, Arianne ; Bryce, Jillian ; Iotova, Violeta ; Juul, Anders ; Krawczynski, Maciej ; Nordenskjöld, Agneta ; Rozas, Marta ; Sanders, Caroline ; Hiort, Olaf ; Ahmed, S Faisal

Orphanet journal of rare diseases, 2016-11-21, Vol.11 (1), p.155-155 [Peer Reviewed Journal]

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9
Further support linking the 22q11.2 microduplication to an increased risk of bladder exstrophy and highlighting LZTR1 as a candidate gene
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Further support linking the 22q11.2 microduplication to an increased risk of bladder exstrophy and highlighting LZTR1 as a candidate gene

Lundin, Johanna ; Markljung, Ellen ; Baranowska Körberg, Izabella ; Hofmeister, Wolfgang ; Cao, Jia ; Nilsson, Daniel ; Holmdahl, Gundela ; Barker, Gillian ; Anderberg, Magnus ; Vukojević, Vladana ; Lindstrand, Anna ; Nordenskjöld, Agneta

Molecular genetics & genomic medicine, 2019-06, Vol.7 (6), p.e666-n/a [Peer Reviewed Journal]

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10
Identification of three novel FGF16 mutations in X‐linked recessive fusion of the fourth and fifth metacarpals and possible correlation with heart disease
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Identification of three novel FGF16 mutations in X‐linked recessive fusion of the fourth and fifth metacarpals and possible correlation with heart disease

Laurell, Tobias ; Nilsson, Daniel ; Hofmeister, Wolfgang ; Lindstrand, Anna ; Ahituv, Nadav ; Vandermeer, Julia ; Amilon, Anders ; Annerén, Göran ; Arner, Marianne ; Pettersson, Maria ; Jäntti, Nina ; Rosberg, Hans‐Eric ; Cattini, Peter A ; Nordenskjöld, Agneta ; Mäkitie, Outi ; Grigelioniene, Giedre ; Nordgren, Ann

Molecular genetics & genomic medicine, 2014-09, Vol.2 (5), p.402-411 [Peer Reviewed Journal]

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