المؤلفون: Le Voyer, T, Parent, AV, Liu, X, Cederholm, A, Gervais, A, Rosain, J, Nguyen, T, Lorenzo, MP, Rackaityte, E, Rinchai, D, Zhang, P, Bizien, L, Hancioglu, G, Ghillani-Dalbin, P, Charuel, JL, Philippot, Q, Gueye, MS, Renkilaraj, MRLM, Ogishi, M, Soudee, C, Migaud, M, Rozenberg, F, Momenilandi, M, Riller, Q, Imberti, L, Delmonte, OM, Muller, G, Keller, B, Orrego, J, Gallego, WAF, Rubin, T, Emiroglu, M, Parvaneh, N, Eriksson, D, Aranda-Guillen, M, Berrios, DI, Vong, L, Katelaris, CH, Mustillo, P, Raedler, J, Bohlen, J, Celik, JB, Astudillo, C, Winter, S, McLean, C, Guffroy, A, DeRisi, JL, Yu, D, Miller, C, Feng, Y, Guichard, A, Beziat, V, Bustamante, J, Pan-Hammarstrom, Q, Zhang, Y, Rosen, LB, Holland, SM, Bosticardo, M, Kenney, H, Castagnoli, R, Slade, CA, Boztug, K, Mahlaoui, N, Latour, S, Abraham, RS, Lougaris, V, Hauck, F, Sediva, A, Atschekzei, F, Sogkas, G, Poli, MC, Slatter, MA, Palterer, B, Keller, MD, Pinzon-Charry, A, Sullivan, A, Droney, L, Suan, D, Wong, M, Kane, A, Hu, H, Ma, C, Grombirikova, H, Ciznar, P, Dalal, I, Aladjidi, N, Hie, M, Lazaro, E, Franco, J, Keles, S, Malphettes, M, Pasquet, M, Maccari, ME, Meinhardt, A, Ikinciogullari, A, Shahrooei, M, Celmeli, F, Frosk, P, Goodnow, CC, Gray, PE, Belot, A, Kuehn, HS, Rosenzweig, SD, Miyara, M, Licciardi, F, Servettaz, A, Barlogis, V, Le Guenno, G, Herrmann, VM, Kuijpers, T, Ducoux, G, Sarrot-Reynauld, F, Schuetz, C, Cunningham-Rundles, C, Rieux-Laucat, F, Tangye, SG, Sobacchi, C, Doffinger, R, Warnatz, K, Grimbacher, B, Fieschi, C, Berteloot, L, Bryant, VL, Assant, ST, Su, H, Neven, B, Abel, L, Zhang, Q, Boisson, B, Cobat, A, Jouanguy, E, Kampe, O, Bastard, P, Roifman, CM, Landegren, N, Notarangelo, LD, Anderson, MS, Casanova, JL, Puel, A

المصدر: Nature. 623(7988):803-813

مصطلحات موضوعية: Medicin och hälsovetenskap

URL الوصول: http://kipublications.ki.se/Default.aspx?queryparsed=id:155216327

المؤلفون: Solis, L, Van Coillie, S, Bonham, JR, Hauck, F, Hammarström, L, Staal, FJT, Lim, B, Pergent, M, Prévot, J

المصدر: International journal of neonatal screening. 10(2)

مصطلحات موضوعية: Medicin och hälsovetenskap

URL الوصول: http://kipublications.ki.se/Default.aspx?queryparsed=id:238651395

المؤلفون: Albert, MH, Slatter, MA, Gennery, AR, Gungor, T, Bakunina, K, Markovitch, B, Hazelaar, S, Sirait, T, Courteille, V, Aiuti, A, Aleinikova, OV, Balashov, D, Bernardo, ME, Bodova, I, Bruno, B, Cavazzana, M, Chiesa, R, Fischer, A, Hauck, F, Ifversen, M, Kalwak, K, Klein, C, Kulagin, A, Kupesiz, A, Kuskonmaz, B, Lindemans, CA, Locatelli, F, Lum, SH, Maschan, A, Meisel, R, Moshous, D, Porta, F, Sauer, MG, Sedlacek, P, Schulz, A, Suarez, F, Vallee, TC, Winiarski, JH, Zecca, M, Neven, B, Veys, P, Lankester, AC

المصدر: Blood. 139(13):2066-2079

مصطلحات موضوعية: Medicin och hälsovetenskap

URL الوصول: http://kipublications.ki.se/Default.aspx?queryparsed=id:149382626

المؤلفون: Garcia-Garcia, A, de Diego, RP, Flores, C, Rinchai, D, Sole-Violan, J, Deya-Martinez, A, Garcia-Solis, B, Lorenzo-Salazar, JM, Hernandez-Brito, E, Lanz, AL, Moens, L, Bucciol, G, Almuqamam, M, Domachowske, JB, Colino, E, Santos-Perez, JL, Marco, FM, Pignata, C, Bousfiha, A, Turvey, SE, Bauer, S, Haerynck, F, Ocejo-Vinyals, JG, Lendinez, F, Prader, S, Naumann-Bartsch, N, Schmid, JP, Biggs, CM, Hildebrand, K, Dreesman, A, Cardenes, MA, Ailal, F, Benhsaien, I, Giardino, G, Molina-Fuentes, A, Fortuny, C, Madhavarapu, S, Conway, DH, Prando, C, Schidlowski, L, Alvarez, MTMD, Alfaro, R, de Castro, FR, Meyts, I, Hauck, F, Puel, A, Bastard, P, Boisson, B, Jouanguy, E, Abel, L, Cobat, A, Zhang, Q, Casanova, JL, Alsina, L, Rodriguez-Gallego, C

المصدر: The Journal of experimental medicine. 220(5)

مصطلحات موضوعية: Medicin och hälsovetenskap

URL الوصول: http://kipublications.ki.se/Default.aspx?queryparsed=id:152318629

المؤلفون: Israni M, Alderson E, Mahlaoui N, Obici L, Rossi-Semerano L, Lachmann H, Avramovic MZ, Guffroy A, Dalm V, Rimmer R, Solis L, Villar C, Gennery AR, Skeffington S, Nordin J, Warnatz K, Korganow A-S, Anton J, Cattalini M, Berg S, Soler-Palacin P, Campbell M, Burns SO, Neven B, Carrabba M, Pergent M, Jandus P, Velcheva M, Pac M, Haerynck F, Meyts I, Hauck F, Sediva A, Gardulf A, Hayward G, Amin T, Dehoorne J, Neth O, Masmas TN, Katzenstein T, da Silva SL, Marquart H, Hentgen V, Fabio G, von Bernuth H, Herlin T, Brogan P, Hanitsch L, Santamaria M, Holzinger D, Elcombe S, Wouters C, Luck P, Faust S, Gilliaux O, Goffard J-C, Hague R, Bernatowska E, Mendez-Echevarria A, Jolles S, Lefevre G, Koliou M, Ogunjimi B, Niehues T, Keogan M, Folkers M, Capilna B, Barzaghi F, Fritsch-Stork R, McDermott E, Ludviksson BR, Mogensen TH, Moschese V, Suarez F, Alsina L, Brodszki N, Savic S, Dellepiane RM, Baselli L, Papadopoulou C, Wulffraat N, Arkwright P, Devlin L, Pitsios C, Jesenak M, Kanariou M, Carreras C, Holzer U, Prescott N, Schrijvers R, Canessa C, Seidel M, Kralickova P, Ekwall O, Candotti F, Philippet P, Litzman J, Slatter M, Blattmann C, Naumova E, Tommasini A, Zeuner R, Insalaco A, Solanich X, Seppanen M, Sabato V, Sanchez-Manubens J, Aalto K, Conlan N, Heilmann C, Friman V, Amoura Z, van der Werff ten Bosch J, Kelecic J, Elfeky R, Alataki-Papadopoulou E, Gonzalez-Granado LI

المصدر: Journal of Clinical Immunology, December 2025

وصف الملف: application/pdf

Relation: https://eprints.ncl.ac.uk/303326; https://eprints.ncl.ac.uk/fulltext.aspx?url=303326/92B4A146-C424-4172-A869-3E7BDED8427F.pdf&pub_id=303326

الاتاحة: https://eprints.ncl.ac.uk/303326

المؤلفون: Chiesa, R, Wang, JF, Blok, HJ, Hazelaar, S, Neven, B, Moshous, D, Schulz, A, Hoenig, M, Hauck, F, Al Seraihy, A, Gozdzik, J, Ljungman, P, Lindemans, CA, Fernandes, JF, Kalwak, K, Strahm, B, Schanz, U, Sedlacek, P, Sykora, KW, Aksoylar, S, Locatelli, F, Stepensky, P, Wynn, R, Lurn, SH, Zecca, M, Porta, F, Taskinen, M, Gibson, B, Matthes, S, Karakukcu, M, Hauri-Hohl, M, Veys, P, Gennery, AR, Lucchini, G, Felber, M, Albert, MH, Balashov, D, Lankester, A, Gungor, T, Slatter, MA

المصدر: Blood. 136(10):1201-1211

مصطلحات موضوعية: Medicin och hälsovetenskap

URL الوصول: http://kipublications.ki.se/Default.aspx?queryparsed=id:144763034

المؤلفون: Ghosh, S, Bal, SK, Edwards, ESJ, Pillay, B, Heredia, RJ, Cipe, FE, Rao, G, Salzer, E, Zoghi, S, Abolhassani, H, Momen, T, Gostick, E, Price, DA, Zhang, Y, Oler, AJ, Gonzaga-Jauregui, C, Erman, B, Metin, A, Ilhan, I, Haskologlu, S, Islamoglu, C, Baskin, K, Ceylaner, S, Yilmaz, E, Unal, E, Karakukcu, M, Berghuis, D, Cole, T, Gupta, AK, Hauck, F, Kogler, H, Hoepelman, AIM, Baris, S, Karakoc-Aydiner, E, Ozen, A, Kager, L, Holzinger, D, Paulussen, M, Kruger, R, Meisel, R, Oommen, PT, Morris, E, Neven, B, Worth, A, van Montfrans, J, Fraaij, PLA, Choo, S, Dogu, F, Davies, EG, Burns, S, Duckers, G, Becker, RP, von Bernuth, H, Latour, S, Faraci, M, Gattorno, M, Su, HC, Pan-Hammarstrom, Q, Hammarstrom, L, Lenardo, MJ, Ma, CS, Niehues, T, Aghamohammadi, A, Rezaei, N, Ikinciogullari, A, Tangye, SG, Lankester, AC, Boztug, K

المصدر: Blood. 136(23):2638-2655

مصطلحات موضوعية: Medicin och hälsovetenskap

URL الوصول: http://kipublications.ki.se/Default.aspx?queryparsed=id:145426617

المؤلفون: Felber, M, Steward, CG, Kentouche, K, Fasth, A, Wynn, RF, Zeilhofer, U, Haunerdinger, V, Volkmer, B, Prader, S, Gruhn, B, Ehl, S, Lehmberg, K, Muller, D, Gennery, AR, Albert, MH, Hauck, F, Rao, K, Veys, P, Hassan, M, Lankester, AC, Schmid, JP, Hauri-Hohl, MM, Gungor, T

المصدر: Blood advances. 4(9):1998-2010

مصطلحات موضوعية: Medicin och hälsovetenskap

URL الوصول: http://kipublications.ki.se/Default.aspx?queryparsed=id:143685111

المؤلفون: Maccari, ME, Wolkewitz, M, Schwab, C, Lorenzini, T, Leiding, JW, Aladjdi, N, Abolhassani, H, Abou-Chahla, W, Aiuti, A, Azarnoush, S, Baris, S, Barlogis, V, Barzaghi, F, Baumann, U, Bloomfield, M, Bohynikova, N, Bodet, D, Boutboul, D, Bucciol, G, Buckland, MS, Burns, SO, Cancrini, C, Cath, P, Cavazzana, M, Cheminant, M, Chinello, M, Ciznar, P, Coulter, TI, D'Aveni, M, Ekwall, O, Eric, Z, Eren, E, Fasth, A, Frange, P, Fournier, B, Garcia-Prat, M, Gardembas, M, Geier, C, Ghosh, S, Goda, V, Hammarstrom, L, Hauck, F, Heeg, M, Heropolitanska-Pliszka, E, Hilfanova, A, Jolles, S, Karakoc-Aydiner, E, Kindle, GR, Kiykim, A, Klemann, C, Koletsi, P, Koltan, S, Kondratenko, I, Korholz, J, Kruger, R, Jeziorski, E, Levy, R, Le Guenno, G, Lefevre, G, Lougaris, V, Marzollo, A, Mahlaoui, N, Malphettes, M, Meinhardt, A, Merlin, E, Meyts, I, Milota, T, Moreira, F, Moshous, D, Mukhina, A, Neth, O, Neubert, J, Neven, B, Nieters, A, Nove-Josserand, R, Oksenhendler, E, Ozen, A, Olbrich, P, Perlat, A, Pac, M, Schmid, JP, Pacillo, L, Parra-Martinez, A, Paschenko, O, Pellier, I, Sefer, AP, Plebani, A, Plantaz, D, Prader, S, Raffray, L, Ritterbusch, H, Riviere, JG, Rivalta, B, Rusch, S, Sakovich, I, Savic, S, Scheible, R, Schleinitz, N, Schuetz, C, Schulz, A, Sediva, A, Semeraro, M, Sharapova, SO, Shcherbina, A, Slatter, MA, Sogkas, G, Soler-Palacin, P, Speckmann, C, Stephan, JL, Suarez, F, Tommasini, A, Truck, J, Uhlmann, A, van Aerde, KJ, van Montfrans, J, von Bernuth, H, Warnatz, K, Williams, T, Worth, AJJ, Ip, W, Picard, C, Catherinot, E, Nademi, Z, Grimbacher, B, Satter, LRF, Kracker, S, Chandra, A, Condliffe, AM, Ehl, S

المصدر: The Journal of allergy and clinical immunology. 152(4):984

مصطلحات موضوعية: Medicin och hälsovetenskap

URL الوصول: http://kipublications.ki.se/Default.aspx?queryparsed=id:154121086

المؤلفون: Nurmi K, Silventoinen K, Keskitalo S, Rajamaki K, Kouri V-P, Kinnunen M, Jalil S, Maldonado R, Wartiovaara K, Nievas EI, Denita-Juarez SP, Duncan CJA, Kuismin O, Saarela J, Romo I, Martelius T, Parantainen J, Beklen A, Bilicka M, Matikainen S, Nordstrom DC, Kaustio M, Wartiovaara-Kautto U, Kilpivaara O, Klein C, Hauck F, Jahkola T, Hautala T, Varjosalo M, Barreto G, Seppanen MRJ, Eklund KK

المصدر: Cell Reports Medicine, 16 April 2024

وصف الملف: application/pdf

Relation: https://eprints.ncl.ac.uk/297990; https://eprints.ncl.ac.uk/fulltext.aspx?url=297990/CD1CDA84-8C50-47AE-B31C-F90F64780CB9.pdf&pub_id=297990

الاتاحة: https://eprints.ncl.ac.uk/297990

المؤلفون: Kreins AY, Dhalla F, Flinn AM, Howley E, Ekwall O, Villa A, Staal FJT, Anderson G, Gennery AR, Hollander GA, Davies EG, Burns SO, Carrabba M, Gardulf A, Haerynck F, Hauck F, Jandus P, Meyts I, Klocperk A, Neven B, Pac M, Pergent M, Sediva A, Soler-Palacin P, Velcheva M, Warnatz K

المصدر: Journal of Allergy and Clinical Immunology, 2024

وصف الملف: application/pdf

Relation: https://eprints.ncl.ac.uk/301955; https://eprints.ncl.ac.uk/fulltext.aspx?url=301955/96223580-F84A-495E-A523-19610EFFCA29.pdf&pub_id=301955

الاتاحة: https://eprints.ncl.ac.uk/301955

المؤلفون: Tsilifis C, Speckmann C, Lum SH, Fox TA, Soler AM, Mozo Y, Corral D, Ewins A-M, Hague R, Oikonomopoulou C, Kalwak K, Drabko K, Wynn R, Morris EC, Elcombe S, Bigley V, Lougaris V, Malagola M, Hauck F, Sedlacek P, Laberko A, Tjon JML, Buddingh EP, Wehr C, Grimbacher B, Gennery AR, Lankester AC, Albert MH, Neven B, Slatter MA

المصدر: Journal of Allergy and Clinical Immunology, 2024

وصف الملف: application/pdf

Relation: https://eprints.ncl.ac.uk/301437; https://eprints.ncl.ac.uk/fulltext.aspx?url=301437/6B9FA55B-E310-4D36-9BCB-48D66E0ACC87.pdf&pub_id=301437

الاتاحة: https://eprints.ncl.ac.uk/301437

المؤلفون: Mishra, H., Schlack-Leigers, C., Lim, E., Thieck, O., Magg, T., Raedler, J., Wolf, C., Klein, C., Ewers, H., Lee-Kirsch, M., Meierhofer, D., Hauck, F., Majer, O.

المصدر: Science Immunology

وصف الملف: application/pdf

Relation: info:eu-repo/semantics/altIdentifier/pmid/38207015; http://hdl.handle.net/21.11116/0000-000E-5854-1; http://hdl.handle.net/21.11116/0000-000E-5856-F

الاتاحة: http://hdl.handle.net/21.11116/0000-000E-5854-1
http://hdl.handle.net/21.11116/0000-000E-5856-F

المؤلفون: Tsilifis C, Torppa T, Williams EJ, Albert MH, Hauck F, Soncini E, Kang E, Malech H, Schuetz C, von Bernuth H, Slatter MA, Gennery AR

المصدر: Journal of Clinical Immunology, 2023

وصف الملف: application/pdf

Relation: https://eprints.ncl.ac.uk/293153; https://eprints.ncl.ac.uk/fulltext.aspx?url=293153/94D2E41B-DCFE-4E83-B7C6-4EA8EF2216B4.pdf&pub_id=293153

الاتاحة: https://eprints.ncl.ac.uk/293153

المؤلفون: Speckmann, C, Nennstiel, U, Hönig, M, Albert, MH, Ghosh, S, Schuetz, C, Brockow, I, Hörster, F, Niehues, T, Ehl, S, Wahn, V, Borte, S, Lehmberg, K, Baumann, U, Beier, R, Krüger, R, Bakhtiar, S, Kuehl, JS, Klemann, C, Kontny, U, Holzer, U, Meinhardt, A, Morbach, H, Naumann-Bartsch, N, Rothoeft, T, Kreins, AY, Davies, EG, Schneider, DT, Bernuth, HV, Klingebiel, T, Hoffmann, GF, Schulz, A, Hauck, F

المصدر: Journal of Clinical Immunology (2023) (In press).

مصطلحات موضوعية: HSCT, Hematopoietic stem cell transplantation, NBS, Newborn screening, SCID, Severe combined immunodeficiency, T cell receptor excision circles, TREC, Thymus transplantation

وصف الملف: text

Relation: https://discovery.ucl.ac.uk/id/eprint/10166708/1/Kreins_s10875-023-01450-6.pdf; https://discovery.ucl.ac.uk/id/eprint/10166708/

الاتاحة: https://discovery.ucl.ac.uk/id/eprint/10166708/1/Kreins_s10875-023-01450-6.pdf
https://discovery.ucl.ac.uk/id/eprint/10166708/

المؤلفون: Mishra, H., Schlack-Leigers, C., Lim, E., Thieck, O., Magg, T., Raedler, J., Wolf, C., Klein, C., Ewers, H., Lee-Kirsch, M., Meierhofer, D., Hauck, F., Majer, O.

المصدر: bioRxiv (Preprint Server)

وصف الملف: application/pdf

Relation: http://hdl.handle.net/21.11116/0000-000D-2D17-8; http://hdl.handle.net/21.11116/0000-000D-2D19-6

الاتاحة: http://hdl.handle.net/21.11116/0000-000D-2D17-8
http://hdl.handle.net/21.11116/0000-000D-2D19-6

المؤلفون: Staus, P, Rusch, S, El-Helou, S, Müller, G, Krausz, M, Geisen, U, Caballero-Oteyza, A, Krüger, R, Bakhtiar, S, Lee-Kirsch, MA, Fasshauer, M, Baumann, U, Hoyer, BF, Farela Neves, J, Borte, M, Carrabba, M, Hauck, F, Ehl, S, Bader, P, von Bernuth, H, Atschekzei, F, Seppänen, MR, Warnatz, K, Nieters, A, Kindle, G, Grimbacher, B

مصطلحات موضوعية: Autoimmunity* / genetics, Europe, Humans, Mutation / genetics, Prospective Studies, Registries, HDE PED

Relation: J Clin Immunol . 2023 Aug;43(6):1289-1301; http://hdl.handle.net/10400.17/4860

الاتاحة: http://hdl.handle.net/10400.17/4860
https://doi.org/10.1007/s10875-023-01472-0

المؤلفون: Gothe F, Stremenova Spegarova J, Hatton CF, Griffin H, Sargent T, Cowley SA, James W, Roppelt A, Shcherbina A, Hauck F, Reyburn HT, Duncan CJA, Hambleton S

المصدر: Journal of Allergy and Clinical Immunology, 2022

وصف الملف: application/pdf

Relation: https://eprints.ncl.ac.uk/281151; https://eprints.ncl.ac.uk/fulltext.aspx?url=281151/4303C477-403B-4FF6-B56F-331D771BDE9A.pdf&pub_id=281151

الاتاحة: https://eprints.ncl.ac.uk/281151

المؤلفون: Haimel, M., Pazmandi, J., Jiménez Heredia, R., Dmytrus, J., Köstel Bal, S., Zoghi, S., van Daele, P., Briggs, T. A., Wouters, C., Bader-Meunier, B., Aeschlimann, F. A., Caorsi, R., Eleftheriou , D., Hoppenreijs, E., Salzer, E., Bakhtiar, S., Derfalvi, B., Saettini , F., Kusters, M. A. A., Elfeky, R., Trück, J., Rivière, J. G., van der Burg, M., Gattorno, M., Seidel, M. G., Burns, S., Warnatz, K., Hauck, F., Brogan, P., Gilmour, K. C., Schuetz, C., Simon, A., Bock, C., Hambleton, S., de Vries, E., Robinson, P. N., van Gijn, M., Boztug, K.

المصدر: Haimel , M , Pazmandi , J , Jiménez Heredia , R , Dmytrus , J , Köstel Bal , S , Zoghi , S , van Daele , P , Briggs , T A , Wouters , C , Bader-Meunier , B , Aeschlimann , F A , Caorsi , R , Eleftheriou , D , Hoppenreijs , E , Salzer , E , Bakhtiar , S , Derfalvi , B , Saettini , F , Kusters , M A A , Elfeky , R , Trück , J , Rivière , J G , van der Burg ....

مصطلحات موضوعية: DIAGNOSIS, DISCOVERY, HEALTH, HPO, PLATFORM, UNDIAGNOSED DISEASES, WORKING, diagnostic support, disease classification, genetic analysis, immunodeficiencies, inborn errors of immunity, ontology, patient matching, phenotype, rare diseases

وصف الملف: application/pdf

الاتاحة: https://research.tilburguniversity.edu/en/publications/8b581575-0881-4eb9-b320-e3007059dac7
https://doi.org/10.1016/j.jaci.2021.04.033
https://pure.uvt.nl/ws/files/51334301/1_s2.0_S0091674921007326_main_2_.pdf
http://www.scopus.com/inward/record.url?scp=85119491997&partnerID=8YFLogxK

المؤلفون: Gothe, F, Spegarova, JS, Hatton, CF, Griffin, H, Sargent, T, Cowley, SA, James, W, Roppelt, A, Shcherbina, A, Hauck, F, Reyburn, HT, Duncan, CJA, Hambleton, S

Relation: https://ora.ox.ac.uk/objects/uuid:e1a151f7-fbd3-4b87-87aa-452fb95b6e1d; https://doi.org/10.1016/j.jaci.2022.01.026

الاتاحة: https://doi.org/10.1016/j.jaci.2022.01.026
https://ora.ox.ac.uk/objects/uuid:e1a151f7-fbd3-4b87-87aa-452fb95b6e1d