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Results 1 - 10 of 139  for Great Falls College MSU

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Mutation in TECPR2 reveals a role for autophagy in hereditary spastic paraparesis.

Oz-Levi, Danit ; Ben-Zeev, Bruria ; Ruzzo, Elizabeth K ; Hitomi, Yuki ; Gelman, Amir ; Pelak, Kimberly ; Anikster, Yair ; Reznik-Wolf, Haike ; Bar-Joseph, Ifat ; Olender, Tsviya ; Alkelai, Anna ; Weiss, Meira ; Ben-Asher, Edna ; Ge, Dongliang ; Shianna, Kevin V ; Elazar, Zvulun ; Goldstein, David B ; Pras, Elon ; Lancet, Doron Oz-Levi, Danit (correspondence author) ; Oz-Levi, Danit (record owner)

American journal of human genetics, December 7, 2012, Vol.91(6), pp.1065-1072 [Peer Reviewed Journal]

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Infantile cerebral and cerebellar atrophy is associated with a mutation in the MED17 subunit of the transcription preinitiation mediator complex.

Kaufmann, Rami ; Straussberg, Rachel ; Mandel, Hanna ; Fattal-Valevski, Aviva ; Ben-Zeev, Bruria ; Naamati, Adi ; Shaag, Avraham ; Zenvirt, Shamir ; Konen, Osnat ; Mimouni-Bloch, Aviva ; Dobyns, William B ; Edvardson, Simon ; Pines, Ophry ; Elpeleg, Orly Kaufmann, Rami (correspondence author) ; Kaufmann, Rami (record owner)

American journal of human genetics, November 12, 2010, Vol.87(5), pp.667-670 [Peer Reviewed Journal]

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Abraham's children in the genome era: major Jewish diaspora populations comprise distinct genetic clusters with shared Middle Eastern Ancestry.

Atzmon, Gil ; Hao, Li ; Pe'Er, Itsik ; Velez, Christopher ; Pearlman, Alexander ; Palamara, Pier Francesco ; Morrow, Bernice ; Friedman, Eitan ; Oddoux, Carole ; Burns, Edward ; Ostrer, Harry Atzmon, Gil (correspondence author) ; Atzmon, Gil (record owner)

American journal of human genetics, June 11, 2010, Vol.86(6), pp.850-859 [Peer Reviewed Journal]

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Mutations in DHDPSL are responsible for primary hyperoxaluria type II.(Report)

Belostotsky, Ruth ; Seboun, Eric ; Idelson, Gregory H. ; Milliner, Dawn S. ; Becker - Cohen, Rachel ; Rinat, Choni ; Monico, Carla G. ; Feinstein, Sofia ; Ben - Shalom, Efrat ; Magen, Daniella ; Weissman, Irith ; Charon, Celine ; Frishberg, Yaacov

American Journal of Human Genetics, Sept 10, 2010, Vol.87(3), p.392(8) [Peer Reviewed Journal]

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A population-genetic test of founder effects and implications for Ashkenazi Jewish diseases.

Slatkin, Montgomery Slatkin, Montgomery (correspondence author) ; Slatkin, Montgomery (record owner)

American journal of human genetics, August 2004, Vol.75(2), pp.282-293 [Peer Reviewed Journal]

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Warfarin pharmacogenetics: CYP2C9 and VKORC1 genotypes predict different sensitivity and resistance frequencies in the Ashkenazi and Sephardi Jewish populations.

Scott, Stuart A ; Edelmann, Lisa ; Kornreich, Ruth ; Desnick, Robert J Scott, Stuart A (correspondence author) ; Scott, Stuart A (record owner)

American journal of human genetics, February 2008, Vol.82(2), pp.495-500 [Peer Reviewed Journal]

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Founding mothers of Jewish communities: geographically separated Jewish groups were independently founded by very few female ancestors.

Thomas, Mark G ; Weale, Michael E ; Jones, Abigail L ; Richards, Martin ; Smith, Alice ; Redhead, Nicola ; Torroni, Antonio ; Scozzari, Rosaria ; Gratrix, Fiona ; Tarekegn, Ayele ; Wilson, James F ; Capelli, Cristian ; Bradman, Neil ; Goldstein, David B Thomas, Mark G (correspondence author) ; Thomas, Mark G (record owner)

American journal of human genetics, June 2002, Vol.70(6), pp.1411-1420 [Peer Reviewed Journal]

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A missense mutation in DHDDS, encoding dehydrodolichyl diphosphate synthase, is associated with autosomal-recessive retinitis pigmentosa in Ashkenazi Jews.

Zelinger, Lina ; Banin, Eyal ; Obolensky, Alexey ; Mizrahi-Meissonnier, Liliana ; Beryozkin, Avigail ; Bandah-Rozenfeld, Dikla ; Frenkel, Shahar ; Ben-Yosef, Tamar ; Merin, Saul ; Schwartz, Sharon B ; Cideciyan, Artur V ; Jacobson, Samuel G ; Sharon, Dror Zelinger, Lina (correspondence author) ; Zelinger, Lina (record owner)

American journal of human genetics, February 11, 2011, Vol.88(2), pp.207-215 [Peer Reviewed Journal]

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Multiple origins of Ashkenazi Levites: Y chromosome evidence for both Near Eastern and European ancestries.

Behar, Doron M ; Thomas, Mark G ; Skorecki, Karl ; Hammer, Michael F ; Bulygina, Ekaterina ; Rosengarten, Dror ; Jones, Abigail L ; Held, Karen ; Moses, Vivian ; Goldstein, David ; Bradman, Neil ; Weale, Michael E Behar, Doron M (correspondence author) ; Behar, Doron M (record owner)

American journal of human genetics, October 2003, Vol.73(4), pp.768-779 [Peer Reviewed Journal]

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The matrilineal ancestry of Ashkenazi Jewry: portrait of a recent founder event.

Behar, Doron M ; Metspalu, Ene ; Kivisild, Toomas ; Achilli, Alessandro ; Hadid, Yarin ; Tzur, Shay ; Pereira, Luisa ; Amorim, Antonio ; Quintana-Murci, Lluis ; Majamaa, Kari ; Herrnstadt, Corinna ; Howell, Neil ; Balanovsky, Oleg ; Kutuev, Ildus ; Pshenichnov, Andrey ; Gurwitz, David ; Bonne-Tamir, Batsheva ; Torroni, Antonio ; Villems, Richard ; Skorecki, Karl Behar, Doron M (correspondence author) ; Behar, Doron M (record owner)

American journal of human genetics, March 2006, Vol.78(3), pp.487-497 [Peer Reviewed Journal]

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