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Early-onset lymphoproliferation and autoimmunity caused by germline STAT3 gain-of-function mutations
- Milner, Joshua D.
- Vogel, Tiphanie P.
- Forbes, Lisa
- Ma, Chi A.
- Stray-Pedersen, Asbjørg
- Niemela, Julie E.
- Lyons, Jonathan J.
- Engelhardt, Karin R.
- Zhang, Yu
- Topcagic, Nermina
- Roberson, Elisha D.O.
- Matthews, Helen
- Verbsky, James W.
- Dasu, Trivikram
- Vargas-Hernandez, Alexander
- Varghese, Nidhy
- McClain, Kenneth L.
- Karam, Lina B.
- Nahmod, Karen
- Makedonas, George
- Mace, Emily M.
- Sorte, Hanne S.
- Perminow, Gøri
- Rao, V. Koneti
- O’Connell, Michael P.
- Price, Susan
- Su, Helen C.
- Butrick, Morgan
- McElwee, Joshua
- Hughes, Jason D.
- Willet, Joseph
- Swan, David
- Xu, Yaobo
- Santibanez-Koref, Mauro
- Slowik, Voytek
- Dinwiddie, Darrell L.
- Ciaccio, Christina E.
- Saunders, Carol J.
- Septer, Seth
- Kingsmore, Stephen F.
- White, Andrew J.
- Cant, Andrew J.
- Hambleton, Sophie
- Cooper, Megan A.
2015
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Journal of clinical immunology, 2022-02, Vol.42 (2), p.404-420
- Jørgensen, Silje F.
- Buechner, Jochen
- Myhre, Anders E.
- Galteland, Eivind
- Spetalen, Signe
- Kulseth, Mari Ann
- Sorte, Hanne S.
- Holla, Øystein L.
- Lundman, Emma
- Alme, Charlotte
- Heier, Ingvild
- Flægstad, Trond
- Fløisand, Yngvar
- Benneche, Andreas
- Fevang, Børre
- Aukrust, Pål
- Stray-Pedersen, Asbjørg
- Gedde-Dahl, Tobias
- Nordøy, Ingvild
2022
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American journal of human genetics, 2014-07, Vol.95 (1), p.96-107
- Stray-Pedersen, Asbjørg
- Backe, Paul H.
- Sorte, Hanne S.
- Mørkrid, Lars
- Chokshi, Niti Y.
- Erichsen, Hans Christian
- Gambin, Tomasz
- Elgstøen, Katja B.P.
- Bjørås, Magnar
- Wlodarski, Marcin W.
- Krüger, Marcus
- Jhangiani, Shalini N.
- Muzny, Donna M.
- Patel, Ankita
- Raymond, Kimiyo M.
- Sasa, Ghadir S.
- Krance, Robert A.
- Martinez, Caridad A.
- Abraham, Shirley M.
- Speckmann, Carsten
- Ehl, Stephan
- Hall, Patricia
- Forbes, Lisa R.
- Merckoll, Else
- Westvik, Jostein
- Nishimura, Gen
- Rustad, Cecilie F.
- Abrahamsen, Tore G.
- Rønnestad, Arild
- Osnes, Liv T.
- Egeland, Torstein
- Rødningen, Olaug K.
- Beck, Christine R.
- Boerwinkle, Eric A.
- Gibbs, Richard A.
- Lupski, James R.
- Orange, Jordan S.
- Lausch, Ekkehart
- Hanson, I. Celine
2014
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European journal of human genetics : EJHG, 2024-05, Vol.32 (5), p.513-520
2024
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European journal of human genetics : EJHG, 2024-05, Vol.32 (5), p.601-602
2024
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European journal of human genetics : EJHG, 2018-03, Vol.26 (3), p.330-339
- Makrythanasis, Periklis
- Maroofian, Reza
- Stray-Pedersen, Asbjørg
- Musaev, Damir
- Zaki, Maha S
- Mahmoud, Iman G
- Selim, Laila
- Elbadawy, Amera
- Jhangiani, Shalini N
- Coban Akdemir, Zeynep H
- Gambin, Tomasz
- Sorte, Hanne S
- Heiberg, Arvid
- McEvoy-Venneri, Jennifer
- James, Kiely N
- Stanley, Valentina
- Belandres, Denice
- Guipponi, Michel
- Santoni, Federico A
- Ahangari, Najmeh
- Tara, Fatemeh
- Doosti, Mohammad
- Iwaszkiewicz, Justyna
- Zoete, Vincent
- Backe, Paul Hoff
- Hamamy, Hanan
- Gleeson, Joseph G
- Lupski, James R
- Karimiani, Ehsan Ghayoor
- Antonarakis, Stylianos E
2018
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Frontiers in immunology, 2020-07, Vol.11, p.1417-1417
- Strand, Janne
- Gul, Kiran Aftab
- Erichsen, Hans Christian
- Lundman, Emma
- Berge, Mona C
- Trømborg, Anette K
- Sørgjerd, Linda K
- Ytre-Arne, Mari
- Hogner, Silje
- Halsne, Ruth
- Gaup, Hege Junita
- Osnes, Liv T
- Kro, Grete A B
- Sorte, Hanne S
- Mørkrid, Lars
- Rowe, Alexander D
- Tangeraas, Trine
- Jørgensen, Jens V
- Alme, Charlotte
- Bjørndalen, Trude E H
- Rønnestad, Arild E
- Lang, Astri M
- Rootwelt, Terje
- Buechner, Jochen
- Øverland, Torstein
- Abrahamsen, Tore G
- Pettersen, Rolf D
- Stray-Pedersen, Asbjørg
2020
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Molecular genetics & genomic medicine, 2016-11, Vol.4 (6), p.604-616
- Sorte, Hanne S.
- Osnes, Liv T.
- Fevang, Børre
- Aukrust, Pål
- Erichsen, Hans C.
- Backe, Paul H.
- Abrahamsen, Tore G.
- Kittang, Ole B.
- Øverland, Torstein
- Jhangiani, Shalini N.
- Muzny, Donna M.
- Vigeland, Magnus D.
- Samarakoon, Pubudu
- Gambin, Tomasz
- Akdemir, Zeynep H. C.
- Gibbs, Richard A.
- Rødningen, Olaug K.
- Lyle, Robert
- Lupski, James R.
- Stray‐Pedersen, Asbjørg
2016
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Psychiatric genetics, 2013-04, Vol.23 (2), p.61-69
2013
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The Journal of experimental medicine, 2023-02, Vol.220 (2)
- Lévy, Romain
- Gothe, Florian
- Momenilandi, Mana
- Magg, Thomas
- Materna, Marie
- Peters, Philipp
- Raedler, Johannes
- Philippot, Quentin
- Rack-Hoch, Anita Lena
- Langlais, David
- Bourgey, Mathieu
- Lanz, Anna-Lisa
- Ogishi, Masato
- Rosain, Jérémie
- Martin, Emmanuel
- Latour, Sylvain
- Vladikine, Natasha
- Distefano, Marco
- Khan, Taushif
- Rapaport, Franck
- Schulz, Marian S
- Holzer, Ursula
- Fasth, Anders
- Sogkas, Georgios
- Speckmann, Carsten
- Troilo, Arianna
- Bigley, Venetia
- Roppelt, Anna
- Dinur-Schejter, Yael
- Toker, Ori
- Bronken Martinsen, Karen Helene
- Sherkat, Roya
- Somekh, Ido
- Somech, Raz
- Shouval, Dror S
- Kühl, Jörn-Sven
- Ip, Winnie
- McDermott, Elizabeth M
- Cliffe, Lucy
- Ozen, Ahmet
- Baris, Safa
- Rangarajan, Hemalatha G
- Jouanguy, Emmanuelle
- Puel, Anne
- Bustamante, Jacinta
- Alyanakian, Marie-Alexandra
- Fusaro, Mathieu
- Wang, Yi
- Kong, Xiao-Fei
- Cobat, Aurélie
- Boutboul, David
- Castelle, Martin
- Aguilar, Claire
- Hermine, Olivier
- Cheminant, Morgane
- Suarez, Felipe
- Yildiran, Alisan
- Bousfiha, Aziz
- Al-Mousa, Hamoud
- Alsohime, Fahad
- Cagdas, Deniz
- Abraham, Roshini S
- Knutsen, Alan P
- Fevang, Borre
- Bhattad, Sagar
- Kiykim, Ayca
- Erman, Baran
- Arikoglu, Tugba
- Unal, Ekrem
- Kumar, Ashish
- Geier, Christoph B
- Baumann, Ulrich
- Neven, Bénédicte
- Rohlfs, Meino
- Walz, Christoph
- Abel, Laurent
- Malissen, Bernard
- Marr, Nico
- Klein, Christoph
- Casanova, Jean-Laurent
- Hauck, Fabian
- Béziat, Vivien
2023
Volltextzugriff (PDF)
BMC genomics, 2014-08, Vol.15 (1), p.661-661, Article 661
2014
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BMC genomics, 2016-01, Vol.17 (37), p.51-51, Article 51
2016
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Journal of allergy and clinical immunology, 2016-10, Vol.138 (4), p.1142-1151.e2
- Yu, Hui, PhD
- Zhang, Victor Wei, MD, PhD
- Stray-Pedersen, Asbjørg, MD, PhD
- Hanson, Imelda Celine, MD
- Forbes, Lisa R., MD
- de la Morena, M. Teresa, MD
- Chinn, Ivan K., MD
- Gorman, Elizabeth, PhD
- Mendelsohn, Nancy J., MD
- Pozos, Tamara, MD, PhD
- Wiszniewski, Wojciech, MD, PhD
- Nicholas, Sarah K., MD
- Yates, Anne B., MD
- Moore, Lindsey E., DO
- Berge, Knut Erik, MD, PhD
- Sorte, Hanne, MS
- Bayer, Diana K., DO
- ALZahrani, Daifulah, MD
- Geha, Raif S., MD
- Feng, Yanming, PhD
- Wang, Guoli, PhD
- Orange, Jordan S., MD, PhD
- Lupski, James R., MD, PhD, DSc (hon)
- Wang, Jing, MD
- Wong, Lee-Jun, PhD
2016
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European journal of human genetics : EJHG, 2012-09, Vol.20 (9), p.999-1003
2012
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Journal of hepatology, 2023-10, Vol.79 (4), p.945-954
2023
Volltextzugriff (PDF)
The New England journal of medicine, 2016-03, Vol.374 (11), p.1032-1043
- Kuehn, Hye Sun
- Boisson, Bertrand
- Cunningham-Rundles, Charlotte
- Reichenbach, Janine
- Stray-Pedersen, Asbjørg
- Gelfand, Erwin W
- Maffucci, Patrick
- Pierce, Keith R
- Abbott, Jordan K
- Voelkerding, Karl V
- South, Sarah T
- Augustine, Nancy H
- Bush, Jeana S
- Dolen, William K
- Wray, Betty B
- Itan, Yuval
- Cobat, Aurelie
- Sorte, Hanne Sørmo
- Ganesan, Sundar
- Prader, Seraina
- Martins, Thomas B
- Lawrence, Monica G
- Orange, Jordan S
- Calvo, Katherine R
- Niemela, Julie E
- Casanova, Jean-Laurent
- Fleisher, Thomas A
- Hill, Harry R
- Kumánovics, Attila
- Conley, Mary Ellen
- Rosenzweig, Sergio D
2016
Volltextzugriff (PDF)
Journal of allergy and clinical immunology, 2017-01, Vol.139 (1), p.232-245
- 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)
2017
Volltextzugriff (PDF)
The Journal of experimental medicine, 2023-02, Vol.220 (2)
- Lévy, Romain
- Gothe, Florian
- Momenilandi, Mana
- Magg, Thomas
- Materna, Marie
- Peters, Philipp
- Raedler, Johannes
- Philippot, Quentin
- Rack-Hoch, Anita Lena
- Langlais, David
- Bourgey, Mathieu
- Lanz, Anna-Lisa
- Ogishi, Masato
- Rosain, Jérémie
- Martin, Emmanuel
- Latour, Sylvain
- Vladikine, Natasha
- Distefano, Marco
- Khan, Taushif
- Rapaport, Franck
- Schulz, Marian
- Holzer, Ursula
- Fasth, Anders
- Sogkas, Georgios
- Speckmann, Carsten
- Troilo, Arianna
- Bigley, Venetia
- Roppelt, Anna
- Dinur-Schejter, Yael
- Toker, Ori
- Bronken Martinsen, Karen Helene
- Sherkat, Roya
- Somekh, Ido
- Somech, Raz
- Shouval, Dror
- Kühl, Jörn-Sven
- Ip, Winnie
- Mcdermott, Elizabeth
- Cliffe, Lucy
- Ozen, Ahmet
- Baris, Safa
- Rangarajan, Hemalatha
- Jouanguy, Emmanuelle
- Puel, Anne
- Bustamante, Jacinta
- Alyanakian, Marie-Alexandra
- Fusaro, Mathieu
- Wang, Yi
- Kong, Xiao-Fei
- Cobat, Aurélie
- Boutboul, David
- Castelle, Martin
- Aguilar, Claire
- Hermine, Olivier
- Cheminant, Morgane
- Suarez, Felipe
- Yildiran, Alisan
- Bousfiha, Aziz
- Al-Mousa, Hamoud
- Alsohime, Fahad
- Cagdas, Deniz
- Abraham, Roshini
- Knutsen, Alan
- Fevang, Borre
- Bhattad, Sagar
- Kiykim, Ayca
- Erman, Baran
- Arikoglu, Tugba
- Unal, Ekrem
- Kumar, Ashish
- Geier, Christoph
- Baumann, Ulrich
- Neven, Bénédicte
- Calas, Julie
- Feuille, Elizabeth
- Chan, Angela
- Yesil, Gozde
- Nammour, Justine
- Bandet, Élise
- Picard, Capucine
- Benhsaien, Ibtihal
- Lang, Peter
- Atschekzei, Faranaz
- Warnatz, Klaus
- Hambleton, Sophie
- Desai, Mukesh
- Karakoc-Aydiner, Elif
- Kolukisa, Burcu
- Al-Muhsen, Saleh
- Alosaimi, Mohammed
- Cipe, Funda
- Alazami, Anas
- Hancioglu, Gonca
- Can Meydan, Bilge
- Sorte, Hanne
- Stray-Pedersen, Asbjørg
- Mammayil, Geetha
- Tökmeci, Nazan
- Shcherbina, Anna
- Stepensky, Polina
2023
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Journal of clinical immunology, 2014-10, Vol.34 (7), p.871-890
- Stray-Pedersen, Asbjorg
- Jouanguy, Emmanuelle
- Crequer, Amandine
- Bertuch, Alison A.
- Brown, Betty S.
- Jhangiani, Shalini N.
- Muzny, Donna M.
- Gambin, Tomasz
- Sorte, Hanne
- Sasa, Ghadir
- Metry, Denise
- Campbell, Judith
- Sockrider, Marianna M.
- Dishop, Megan K.
- Scollard, David M.
- Gibbs, Richard A.
- Mace, Emily M.
- Orange, Jordan S.
- Lupski, James R.
- Casanova, Jean-Laurent
- Noroski, Lenora M.
2014
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Molecular syndromology, 2016-09, Vol.7 (4), p.234-238
2016
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Blood, 2015-12, Vol.126 (23), p.2225-2225
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Journal of clinical immunology, 2021
- Jørgensen, Silje Fjellgård
- Buechner, Jochen
- Myhre, Anders E
- Galteland, Eivind
- Spetalen, Signe
- Kulseth, Mari Ann
- Sorte, Hanne Sørmo
- Holla, Øystein Lunde
- Lundman, Emma
- Alme, Charlotte
- Heier, Ingvild
- Flægstad, Trond
- Fløisand, Yngvar
- Benneche, Andreas
- Fevang, Børre
- Aukrust, Pål
- Stray-Pedersen, Asbjørn
- Gedde-Dahl, Tobias
- Nordøy, Ingvild
2021
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Case Reports in Immunology, 2018-01, Vol.2018 (2018), p.1-6
2018
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European journal of medical genetics, 2012-03, Vol.55 (3), p.196-202
2012
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European journal of medical genetics, 2011-03, Vol.54 (2), p.130-135
2011
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