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ORAI1 mutations abolishing store-operated Ca2+ entry cause anhidrotic ectodermal dysplasia with immunodeficiency
ORAI1 mutations abolishing store-operated Ca2+ entry cause anhidrotic ectodermal dysplasia with immunodeficiency
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ORAI1 mutations abolishing store-operated Ca2+ entry cause anhidrotic ectodermal dysplasia with immunodeficiency

Lian, Jayson ; Cuk, Mario ; Kahlfuss, Sascha ; Kozhaya, Lina ; Vaeth, Martin ; Rieux-Laucat, Frédéric ; Picard, Capucine ; Benson, Melina J. ; Jakovcevic, Antonia ; Bilic, Karmen ; Martinac, Iva ; Stathopulos, Peter ; Kacskovics, Imre ; Vraetz, Thomas ; Speckmann, Carsten ; Ehl, Stephan ; Issekutz, Thomas ; Unutmaz, Derya ; Feske, Stefan

Journal of allergy and clinical immunology, 2018-10, Vol.142 (4), p.1297-1310.e11 [Periódico revisado por pares]

Elsevier Inc

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2
Primary immunodeficiency diseases: Genomic approaches delineate heterogeneous Mendelian disorders
Primary immunodeficiency diseases: Genomic approaches delineate heterogeneous Mendelian disorders
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Primary immunodeficiency diseases: Genomic approaches delineate heterogeneous Mendelian disorders

Stray-Pedersen, Asbjørg, MD, PhD ; Sorte, Hanne Sørmo, MS ; Samarakoon, Pubudu, MS ; Gambin, Tomasz, PhD ; Chinn, Ivan K., MD ; Coban Akdemir, Zeynep H., PhD ; Erichsen, Hans Christian, MD, PhD ; Forbes, Lisa R., MD ; Gu, Shen, PhD ; Yuan, Bo, PhD ; Jhangiani, Shalini N., MS ; Muzny, Donna M., MS ; Rødningen, Olaug Kristin, PhD ; Sheng, Ying, PhD ; Nicholas, Sarah K., MD, PhD ; Noroski, Lenora M., MD, MPH ; Seeborg, Filiz O., MD, MPH ; Davis, Carla M., MD ; Canter, Debra L., MS ; Mace, Emily M., PhD ; Vece, Timothy J., MD ; Allen, Carl E., MD, PhD ; Abhyankar, Harshal A., MS ; Boone, Philip M., MD, PhD ; Beck, Christine R., PhD ; Wiszniewski, Wojciech, MD, PhD ; Fevang, Børre, MD, PhD ; Aukrust, Pål, MD, PhD ; Tjønnfjord, Geir E., MD, PhD ; Gedde-Dahl, Tobias, MD, PhD ; Hjorth-Hansen, Henrik, MD, PhD ; Dybedal, Ingunn, MD, PhD ; Nordøy, Ingvild, MD, PhD ; Jørgensen, Silje F., MD ; Abrahamsen, Tore G., MD, PhD ; Øverland, Torstein, MD ; Bechensteen, Anne Grete, MD, PhD ; Skogen, Vegard, MD, PhD ; Osnes, Liv T.N., MD, PhD ; Kulseth, Mari Ann, PhD ; Prescott, Trine E., MD ; Rustad, Cecilie F., MD ; Heimdal, Ketil R., MD, PhD ; Belmont, John W., MD, PhD ; Rider, Nicholas L., DO ; Chinen, Javier, MD, PhD ; Cao, Tram N., MS ; Smith, Eric A., BSc ; Caldirola, Maria Soledad, BSc ; Bezrodnik, Liliana, MD ; Lugo Reyes, Saul Oswaldo, MD ; Espinosa Rosales, Francisco J., MD ; Guerrero-Cursaru, Nina Denisse, BSc ; Pedroza, Luis Alberto, PhD ; Poli, Cecilia M., MD ; Franco, Jose L., MD, PhD ; Trujillo Vargas, Claudia M., PhD ; Aldave Becerra, Juan Carlos, MD ; Wright, Nicola, MD ; Issekutz, Thomas B., MD ; Issekutz, Andrew C., MD ; Abbott, Jordan, MD ; Caldwell, Jason W., DO ; Bayer, Diana K., DO ; Chan, Alice Y., MD, PhD ; Aiuti, Alessandro, MD, PhD ; Cancrini, Caterina, MD, PhD ; Holmberg, Eva, MD ; West, Christina, MD, PhD ; Burstedt, Magnus, MD, PhD ; Karaca, Ender, MD ; Yesil, Gözde, MD ; Artac, Hasibe, MD ; Bayram, Yavuz, MD ; Atik, Mehmed Musa, BSc ; Eldomery, Mohammad K., MD ; Ehlayel, Mohammad S., MD, PhD ; Jolles, Stephen, MD, PhD ; Flatø, Berit, MD, PhD ; Bertuch, Alison A., MD, PhD ; Hanson, I. Celine, MD ; Zhang, Victor W., PhD ; Wong, Lee-Jun, PhD ; Hu, Jianhong, PhD ; Walkiewicz, Magdalena, PhD ; Yang, Yaping, PhD ; Eng, Christine M., MD ; Boerwinkle, Eric, PhD ; Gibbs, Richard A., PhD ; Shearer, William T., MD, PhD ; Lyle, Robert, PhD ; Orange, Jordan S., MD, PhD ; Lupski, James R., MD, PhD, DSc (Hon)

Journal of allergy and clinical immunology, 2017-01, Vol.139 (1), p.232-245 [Periódico revisado por pares]

United States: Elsevier Inc

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3
ORAI1 mutations abolishing store-operated Ca 2+ entry cause anhidrotic ectodermal dysplasia with immunodeficiency
ORAI1 mutations abolishing store-operated Ca 2+ entry cause anhidrotic ectodermal dysplasia with immunodeficiency
Material Type:
Artigo 		Adicionar ao Meu Espaço

ORAI1 mutations abolishing store-operated Ca 2+ entry cause anhidrotic ectodermal dysplasia with immunodeficiency

Lian, Jayson ; Cuk, Mario ; Kahlfuss, Sascha ; Kozhaya, Lina ; Vaeth, Martin ; Rieux-Laucat, Frédéric ; Picard, Capucine ; Benson, Melina J ; Jakovcevic, Antonia ; Bilic, Karmen ; Martinac, Iva ; Stathopulos, Peter ; Kacskovics, Imre ; Vraetz, Thomas ; Speckmann, Carsten ; Ehl, Stephan ; Issekutz, Thomas ; Unutmaz, Derya ; Feske, Stefan

Journal of allergy and clinical immunology, 2018-10, Vol.142 (4), p.1297 [Periódico revisado por pares]

United States: Elsevier Limited

Texto completo disponível

Citações Citado por
4
Primary immunodeficiency diseases: Genomic approaches delineate heterogeneous Mendelian disorders
Primary immunodeficiency diseases: Genomic approaches delineate heterogeneous Mendelian disorders
Material Type:
Artigo 		Adicionar ao Meu Espaço

Primary immunodeficiency diseases: Genomic approaches delineate heterogeneous Mendelian disorders

Stray-Pedersen, Asbjørg ; Sorte, Hanne Sørmo ; Samarakoon, Pubudu ; Gambin, Tomasz ; Chinn, Ivan K ; Akdemir, Zeynep H Coban ; Erichsen, Hans Christian ; Forbes, Lisa R ; Gu, Shen ; Yuan, Bo ; Jhangiani, Shalini N ; Muzny, Donna M ; Rødningen, Olaug Kristin ; Sheng, Ying ; Nicholas, Sarah K ; Noroski, Lenora M ; Seeborg, Filiz O ; Davis, Carla M ; Canter, Debra L ; Mace, Emily M ; Vece, Timothy J ; Allen, Carl E ; Abhyankar, Harshal A ; Boone, Philip M ; Beck, Christine R ; Wiszniewski, Wojciech ; Fevang, Børre ; Aukrust, Pål ; Tjønnfjord, Geir E ; Gedde-Dahl, Tobias ; Hjorth-Hansen, Henrik ; Dybedal, Ingunn ; Nordøy, Ingvild ; Jørgensen, Silje F ; Abrahamsen, Tore G ; Øverland, Torstein ; Bechensteen, Anne Grete ; Skogen, Vegard ; Osnes, Liv TN ; Kulseth, Mari Ann ; Prescott, Trine E ; Rustad, Cecilie F ; Heimdal, Ketil R ; Belmont, John W ; Rider, Nicholas L ; Chinen, Javier ; Cao, Tram N ; Smith, Eric A ; Caldirola, Maria Soledad ; Bezrodnik, Liliana ; Reyes, Saul Oswaldo Lugo ; Rosales, Francisco J Espinosa ; Guerrero-Cursaru, Nina Denisse ; Pedroza, Luis Alberto ; Poli, Cecilia M ; Franco, Jose L ; Vargas, Claudia M Trujillo ; Becerra, Juan Carlos Aldave ; Wright, Nicola ; Issekutz, Thomas B ; Issekutz, Andrew C ; Abbott, Jordan ; Caldwell, Jason W ; Bayer, Diana K ; Chan, Alice Y ; Aiuti, Alessandro ; Cancrini, Caterina ; Holmberg, Eva ; West, Christina ; Burstedt, Magnus ; Karaca, Ender ; Yesil, Gözde ; Artac, Hasibe ; Bayram, Yavuz ; Atik, Mehmed Musa ; Eldomery, Mohammad K ; Ehlayel, Mohammad S ; Jolles, Stephen ; Flatø, Berit ; Bertuch, Alison A ; Hanson, I Celine ; Zhang, Victor W ; Wong, Lee-Jun ; Hu, Jianhong ; Walkiewicz, Magdalena ; Yang, Yaping ; Eng, Christine M ; Boerwinkle, Eric ; Gibbs, Richard A ; Shearer, William T ; Lyle, Robert ; Orange, Jordan S ; Lupski, James R

Journal of Allergy and Clinical Immunology, 2017-01, Vol.139 (1), p.232-245

eScholarship, University of California

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