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Results 1 - 10 of 190  for Great Falls College MSU

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1
Generation of two human iPSC lines (UUIGPi013-A and UUIPGi014-A) from cases with Down syndrome and full trisomy for chromosome 21 (T21)
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Generation of two human iPSC lines (UUIGPi013-A and UUIPGi014-A) from cases with Down syndrome and full trisomy for chromosome 21 (T21)

Schuster, Jens ; Hoeber, Jan ; Sobol, Maria ; Fatima, Ambrin ; Annerén, Göran ; Dahl, Niklas

Stem cell research, 2020-12, Vol.49, p.102081-102081 [Peer Reviewed Journal]

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2
Identification and Analysis of Mutations in the Wilson Disease Gene ( ATP7B): Population Frequencies, Genotype-Phenotype Correlation, and Functional Analyses
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Identification and Analysis of Mutations in the Wilson Disease Gene ( ATP7B): Population Frequencies, Genotype-Phenotype Correlation, and Functional Analyses

Shah, Anjali B ; Chernov, Igor ; Zhang, Hong Tao ; Ross, Barbara M ; Das, Kamna ; Lutsenko, Svetlana ; Parano, Enrico ; Pavone, Lorenzo ; Evgrafov, Oleg ; Ivanova-Smolenskaya, Irina A ; Annerén, Göran ; Westermark, Kerstin ; Urrutia, Francisco Hevia ; Penchaszadeh, Graciela K ; Sternlieb, Irmin ; Scheinberg, I. Herbert ; Gilliam, T. Conrad ; Petrukhin, Konstantin

American journal of human genetics, 1997, Vol.61 (2), p.317-328 [Peer Reviewed Journal]

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3
Genetics of Mental Retardation - An Overview Encompassing Learning Disability and Intellectual Disability: Book Reviews
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Genetics of Mental Retardation - An Overview Encompassing Learning Disability and Intellectual Disability: Book Reviews

Annerén, Göran

Acta pædiatrica (Oslo), 2011-04, Vol.100 (4), p.629-630 [Peer Reviewed Journal]

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4
FISH-mapping of a 100-kb terminal 22q13 deletion
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FISH-mapping of a 100-kb terminal 22q13 deletion

Anderlid, Britt-Marie ; Schoumans, Jacqueline ; Annerén, Göran ; Tapia-Paez, Isabel ; Dumanski, Jan ; Blennow, Elisabeth ; Nordenskjöld, Magnus

Human genetics, 2002-05, Vol.110 (5), p.439-443 [Peer Reviewed Journal]

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5
Molecular genetic analysis of a de novo balanced translocation t(6;17)(p21.31;q11.2) associated with hypospadias and anorectal malformation
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Molecular genetic analysis of a de novo balanced translocation t(6;17)(p21.31;q11.2) associated with hypospadias and anorectal malformation

Mansouri, Mahmoud Reza ; Mansouri, Mahmoud Reza ; Carlsson, Birgit ; Carlsson, Birgit ; Davey, Edward ; Davey, Edward ; Nordenskjöld, Agneta ; Nordenskjöld, Agneta ; Wester, Tomas ; Wester, Tomas ; Annerén, Göran ; Annerén, Göran ; Läckgren, Göran ; Läckgren, Göran ; Dahl, Niklas ; Dahl, Niklas

Human genetics, 2006-03, Vol.119 (1), p.162-168 [Peer Reviewed Journal]

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6
Noonan syndrome and related disorders: a matter of dysregulated ras signalling
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Noonan syndrome and related disorders: a matter of dysregulated ras signalling

Annerén, Göran

Acta pædiatrica (Oslo), 2009-05, Vol.98 (5), p.920-920 [Peer Reviewed Journal]

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7
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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8
Preventive health care for children with genetic conditions providing primary care medical home, 2nd edition
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Preventive health care for children with genetic conditions providing primary care medical home, 2nd edition

Annerén, Göran

Acta pædiatrica (Oslo), 2008-01, Vol.97 (1), p.136-136 [Peer Reviewed Journal]

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9
RAR-related orphan receptor A isoform 1 (RORa1) is disrupted by a balanced translocation t(4;15)(q22.3;q21.3) associated with severe obesity
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RAR-related orphan receptor A isoform 1 (RORa1) is disrupted by a balanced translocation t(4;15)(q22.3;q21.3) associated with severe obesity

KLAR, Joakim ; ASLING, Bengt ; DAHL, Niklas ; CARLSSON, Birgit ; ULVSBÄCK, Magnus ; DELLSEN, Anita ; STRÖM, Carina ; RHEDIN, Magdalena ; FORSLUND, Anders ; ANNEREN, Goran ; LUDVIGSSON, Jonas F

European journal of human genetics : EJHG, 2005-08, Vol.13 (8), p.928-934 [Peer Reviewed Journal]

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10
TAF1, associated with intellectual disability in humans, is essential for embryogenesis and regulates neurodevelopmental processes in zebrafish
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TAF1, associated with intellectual disability in humans, is essential for embryogenesis and regulates neurodevelopmental processes in zebrafish

Gudmundsson, Sanna ; Wilbe, Maria ; Filipek-Górniok, Beata ; Molin, Anna-Maja ; Ekvall, Sara ; Johansson, Josefin ; Allalou, Amin ; Gylje, Hans ; Kalscheuer, Vera M ; Ledin, Johan ; Annerén, Göran ; Bondeson, Marie-Louise

Scientific reports, 2019-07-24, Vol.9 (1), p.10730-11 [Peer Reviewed Journal]

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