المؤلفون: Farmer J. R., Foldvari Z., Ujhazi B., De Ravin S. S., Chen K., Bleesing J. J. H., Schuetz C., Al-Herz W., Abraham R. S., Joshi A. Y., Costa-Carvalho B. T., Buchbinder D., Booth C., Reiff A., Ferguson P. J., Aghamohammadi A., Abolhassani H., Puck J. M., Adeli M., Cancrini C., Palma P., Bertaina A., Locatelli F., Di Matteo G., Geha R. S., Kanariou M. G., Lycopoulou L., Tzanoudaki M., Sleasman J. W., Parikh S., Pinero G., Fischer B. M., Dbaibo G., Unal E., Patiroglu T., Karakukcu M., Al-Saad K. K., Dilley M. A., Pai S. -Y., Dutmer C. M., Gelfand E. W., Geier C. B., Eibl M. M., Wolf H. M., Henderson L. A., Hazen M. M., Bonfim C., Wolska-Kusnierz B., Butte M. J., Hernandez J. D., Nicholas S. K., Stepensky P., Chandrakasan S., Miano M., Westermann-Clark E., Goda V., Krivan G., Holland S. M., Fadugba O., Henrickson S. E., Ozen A., Karakoc-Aydiner E., Baris S., Kiykim A., Bredius R., Hoeger B., Boztug K., Pashchenko O., Neven B., Moshous D., de Villartay J. -P., Bousfiha A. A., Hill H. R., Notarangelo L. D., Walter J. E.

المساهمون: Farmer, J. R., Foldvari, Z., Ujhazi, B., De Ravin, S. S., Chen, K., Bleesing, J. J. H., Schuetz, C., Al-Herz, W., Abraham, R. S., Joshi, A. Y., Costa-Carvalho, B. T., Buchbinder, D., Booth, C., Reiff, A., Ferguson, P. J., Aghamohammadi, A., Abolhassani, H., Puck, J. M., Adeli, M., Cancrini, C., Palma, P., Bertaina, A., Locatelli, F., Di Matteo, G., Geha, R. S., Kanariou, M. G., Lycopoulou, L., Tzanoudaki, M., Sleasman, J. W., Parikh, S., Pinero, G., Fischer, B. M., Dbaibo, G., Unal, E., Patiroglu, T., Karakukcu, M., Al-Saad, K. K., Dilley, M. A., Pai, S. -Y., Dutmer, C. M., Gelfand, E. W., Geier, C. B., Eibl, M. M., Wolf, H. M., Henderson, L. A., Hazen, M. M., Bonfim, C., Wolska-Kusnierz, B., Butte, M. J., Hernandez, J. D., Nicholas, S. K., Stepensky, P., Chandrakasan, S., Miano, M., Westermann-Clark, E., Goda, V., Krivan, G., Holland, S. M., Fadugba, O., Henrickson, S. E., Ozen, A., Karakoc-Aydiner, E., Baris, S., Kiykim, A., Bredius, R., Hoeger, B., Boztug, K., Pashchenko, O., Neven, B., Moshous, D., de Villartay, J. -P., Bousfiha, A. A., Hill, H. R., Notarangelo, L. D., Walter, J. E.

مصطلحات موضوعية: autoimmune cytopenia, hematopoietic stem cell transplantation (HSCT), immune dysregulation, recombination activating gene (RAG), severe combined immunodeficiency (SCID)

Relation: info:eu-repo/semantics/altIdentifier/pmid/30877075; info:eu-repo/semantics/altIdentifier/wos/WOS:000473777600035; volume:7; issue:6; firstpage:1970; lastpage:1985.e4; numberofpages:20; journal:JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY. IN PRACTICE; http://hdl.handle.net/11573/1481686; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85065170828

الاتاحة: http://hdl.handle.net/11573/1481686
https://doi.org/10.1016/j.jaip.2019.02.038

المؤلفون: Delmonte O. M., Castagnoli R., Yu J., Dvorak C. C., Cowan M. J., Davila Saldana B. J., De Ravin S. S., Mamcarz E., Chang C. K., Daley S. R., Griffith L. M., Notarangelo L. D., Puck J. M.

المساهمون: Delmonte, O. M., Castagnoli, R., Yu, J., Dvorak, C. C., Cowan, M. J., Davila Saldana, B. J., De Ravin, S. S., Mamcarz, E., Chang, C. K., Daley, S. R., Griffith, L. M., Notarangelo, L. D., Puck, J. M.

مصطلحات موضوعية: Complementarity determining region 3 (CDR3), hematopoietic cell transplantation, high-throughput sequencing, immune reconstitution, severe combined immunodeficiency (SCID), T-cell receptor (TCR), T-cell receptor β (TRB) diversity, T-cell receptor β (TRB) repertoire

وصف الملف: STAMPA

Relation: info:eu-repo/semantics/altIdentifier/wos/WOS:000765811400009; volume:149; issue:3; firstpage:1113; lastpage:1119; numberofpages:7; journal:JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY; http://hdl.handle.net/11571/1453387; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85113320185

الاتاحة: http://hdl.handle.net/11571/1453387
https://doi.org/10.1016/j.jaci.2021.07.029

المؤلفون: Volpi, S., Yamazaki, Y., Brauer, P. M., van Rooijen, E., Hayashida, A., Slavotinek, A., Sun Kuehn, H., Di Rocco, M., Rivolta, Carlo, Bortolomai, I., Du, L., Felgentreff, K., Ott de Bruin, L., Hayashida, K., Freedman, G., Marcovecchio, G. E., Capuder, K., Rath, P., Luche, N., Hagedorn, E. J., Buoncompagni, A., Royer-Bertrand, B., Giliani, S., Poliani, P. L., Imberti, L., Dobbs, K., Poulain, F. E., Martini, A., Manis, J., Linhardt, R. J., Bosticardo, M., Rosenzweig, S. D., Lee, H., Puck, J. M., Zúñiga-Pflücker, J. C., Zon, L., Park, P. W., Superti-Furga, A., Notarangelo, L. D.

مصطلحات موضوعية: Animals, Bone Diseases, Developmental, Child, Preschool, Developmental Disabilities, Female, Heparitin Sulfate, Humans, Immunologic Deficiency Syndromes, Induced Pluripotent Stem Cells, Infant, Lymphocytes, Mutation, N-Acetylglucosaminyltransferases, Zebrafish

Relation: https://www.ncbi.nlm.nih.gov/pubmed/28148688; Journal of Experimental Medicine, 2017, 214 (3), pp. 623-637; http://jem.rupress.org/content/214/3/623; http://hdl.handle.net/2381/40438; jem.20161525

الاتاحة: http://jem.rupress.org/content/214/3/623
http://hdl.handle.net/2381/40438
https://doi.org/10.1084/jem.20161525

المؤلفون: Dvorak, C C, Patel, K, Puck, J M, Wahlstrom, J, Dorsey, M J, Adams, R, Facchino, J, Cowan, M J

المصدر: Bone Marrow Transplantation ; volume 52, issue 7, page 1036-1038 ; ISSN 0268-3369 1476-5365

الاتاحة: http://dx.doi.org/10.1038/bmt.2017.74
https://www.nature.com/articles/bmt201774.pdf
https://www.nature.com/articles/bmt201774
http://www.nature.com/doifinder/10.1038/bmt.2017.74

المؤلفون: Walter, J E, Rucci, F, Patrizi, L, Recher, M, Regenass, S, Paganini, T, Keszei, M, Pessach, I, Lang, P A, Poliani, P L, Giliani, S, Al-Herz, W, Cowan, M J, Puck, J M, Bleesing, J, Niehues, T, Schuetz, C, Malech, H, DeRavin, S S, Facchetti, F, Gennery, A R, Andersson, E, Kamani, N R, Sekiguchi, J, Alenezi, H M, Chinen, J, Dbaibo, G, ElGhazali, G, Fontana, A, Pasic, S, Detre, C, Terhorst, C, Alt, F W, Notarangelo, L D

المصدر: Walter, J E; Rucci, F; Patrizi, L; Recher, M; Regenass, S; Paganini, T; Keszei, M; Pessach, I; Lang, P A; Poliani, P L; Giliani, S; Al-Herz, W; Cowan, M J; Puck, J M; Bleesing, J; Niehues, T; Schuetz, C; Malech, H; DeRavin, S S; Facchetti, F; Gennery, A R; Andersson, E; Kamani, N R; Sekiguchi, J; Alenezi, H M; Chinen, J; Dbaibo, G; ElGhazali, G; Fontana, A; Pasic, S; Detre, C; Terhorst, C; Alt, F W; Notarangelo, L D (2010). Expansion of immunoglobulin-secreting cells and defects in B cell tolerance in Rag-dependent immunodeficiency. Journal of Experimental Medicine, 207(7):1541-1554.

مصطلحات موضوعية: Clinic for Immunology, 610 Medicine & health

وصف الملف: application/pdf

Relation: https://www.zora.uzh.ch/id/eprint/35592/9/Walter_et_al-1.pdf; info:pmid/20547827; urn:issn:0022-1007

الاتاحة: https://www.zora.uzh.ch/id/eprint/35592/
https://doi.org/10.1084/jem.20091927

المؤلفون: Schuetz, C., Gerke, J., Ege, M., Walter, J., Kusters, M., Worth, A., Kanakry, J. A., Dimitrova, D., Wolska-Kuśnierz, B., Chen, K., Unal, E., Karakukcu, M., Pashchenko, O., Leiding, J., Kawai, T., Amrolia, P. J., Berghuis, D., Buechner, J., Buchbinder, D., Cowan, M. J., Gennery, A. R., Güngör, T., Heimall, J., Miano, M., Meyts, I., Morris, E. C., Rivière, J., Sharapova, S. O., Shaw, P. J., Slatter, M., Honig, M., Veys, P., Fischer, A., Cavazzana, M., Moshous, D., Schulz, A., Albert, M. H., Puck, J. M., Lankester, A. C., Notarangelo, L. D., Neven, B.

المصدر: Blood; February 2023, Vol. 141 Issue: 7 p713-724, 12p

المؤلفون: Candotti, F, Roifman, C, Puck, J M

المصدر: Gene Therapy ; volume 13, issue 9, page 741-743 ; ISSN 0969-7128 1476-5462

الاتاحة: http://dx.doi.org/10.1038/sj.gt.3302663
https://www.nature.com/articles/3302663.pdf
https://www.nature.com/articles/3302663

المؤلفون: Fuss, I J, Strober, W, Dale, J K, Fritz, S, Pearlstein, G R, Puck, J M, Lenardo, M J, Straus, S E

المصدر: The Journal of Immunology ; volume 158, issue 4, page 1912-1918 ; ISSN 0022-1767 1550-6606

الاتاحة: https://doi.org/10.4049/jimmunol.158.4.1912
https://journals.aai.org/jimmunol/article-pdf/158/4/1912/1076558/1912.pdf

المؤلفون: Taylor, N., Candotti, F., Smith, S., Oakes, S. A., Jahn, T., Isakov, J., Puck, J. M., Oshea, J. J., Weinberg, K., Johnston, J. A.

المساهمون: Institut de Génétique Moléculaire de Montpellier (IGMM), Université de Montpellier (UM)-Centre National de la Recherche Scientifique (CNRS)

المصدر: ISSN: 0021-9258.

مصطلحات موضوعية: receptor-gamma-chain jak-3 janus kinase il-2 receptor tyrosine phosphorylation functional component stat proteins t-cells activation insulin transduction, [SDV.BBM]Life Sciences [q-bio]/Biochemistry, Molecular Biology

الاتاحة: https://hal.science/hal-02195790
https://hal.science/hal-02195790v1/document
https://hal.science/hal-02195790v1/file/PIIS0021925818410708.pdf
https://doi.org/10.1074/jbc.272.11.7314

المؤلفون: Lai, S. Y., Molden, J., Liu, K. D., Puck, J. M., White, M. D., Goldsmith, M. A.

المصدر: The EMBO Journal ; volume 15, issue 17, page 4506-4514 ; ISSN 0261-4189

الاتاحة: http://dx.doi.org/10.1002/j.1460-2075.1996.tb00828.x
https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1002%2Fj.1460-2075.1996.tb00828.x
http://onlinelibrary.wiley.com/wol1/doi/10.1002/j.1460-2075.1996.tb00828.x/fullpdf

المؤلفون: Jänne, P. A., Dutra, A. S., Dracopoli, N. C., Charnas, L. R., Puck, J. M., Nussbaum, R. L.

Relation: https://doi.org/10.1159/000133691; oai:zenodo.org:1235405

الاتاحة: https://doi.org/10.1159/000133691

المؤلفون: Farmer, J. R., Foldvari, Z., Ujhazi, B., De Ravin, S. S., Chen, K., Bleesing, J. J. H., Schuetz, C., Al-Herz, W., Abraham, R. S., Joshi, A. Y., Costa-Carvalho, B. T., Buchbinder, D., Booth, C., Reiff, A., Ferguson, P. J., Aghamohammadi, A., Abolhassani, H., Puck, J. M., Adeli, M., Cancrini, C., Palma, P., Bertaina, A., Locatelli, Franco, Di Matteo, G., Geha, R. S., Kanariou, M. G., Lycopoulou, L., Tzanoudaki, M., Sleasman, J. W., Parikh, S., Pinero, G., Fischer, B. M., Dbaibo, G., Unal, E., Patiroglu, T., Karakukcu, M., Al-Saad, K. K., Dilley, M. A., Pai, S. -Y., Dutmer, C. M., Gelfand, E. W., Geier, C. B., Eibl, M. M., Wolf, H. M., Henderson, L. A., Hazen, M. M., Bonfim, C., Wolska-Kusnierz, B., Butte, M. J., Hernandez, J. D., Nicholas, S. K., Stepensky, P., Chandrakasan, S., Miano, M., Westermann-Clark, E., Goda, V., Krivan, G., Holland, S. M., Fadugba, O., Henrickson, S. E., Ozen, A., Karakoc-Aydiner, E., Baris, S., Kiykim, A., Bredius, R., Hoeger, B., Boztug, K., Pashchenko, O., Neven, B., Moshous, D., de Villartay, J. -P., Bousfiha, A. A., Hill, H. R., Notarangelo, L. D., Walter, J. E., Locatelli F. (ORCID:0000-0002-7976-3654)

مصطلحات الفهرس: Autoimmune cytopenias, Hematopoietic stem cell transplantation (HSCT), Immune dysregulation, Recombination activating gene (RAG), Severe combined immunodeficiency (SCID), Settore MED/38 - PEDIATRIA GENERALE E SPECIALISTICA, info:eu-repo/semantics/article

URL: https://hdl.handle.net/10807/228277
info:eu-repo/semantics/altIdentifier/pmid/30877075
info:eu-repo/semantics/altIdentifier/wos/WOS:000473777600035
volume:7
issue:6
firstpage:1970
lastpage:1985.e4
issueyear:2019
journal:JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY. IN PRACTICE

المؤلفون: Depner, M., Wanders, J., Stauss, H., Jansson, A., Dueckers, G., Niehues, T., Baumann, U., Pedersen, A. Stray, Atkinson, T. P., Puck, J. M., Franco, J. L., Devlin, L., Jensen, T. D., Henderson, P., Matthijs, G., Ben Shoshan, M., McCusker, C., Jacob, C. M., Grimbacher, B.

المساهمون: Uludağ Üniversitesi/Tıp Fakültesi/Çocuk Sağlığı ve Hastalıkları Anabilim Dalı/Çocuk İmmünolojisi Bölümü., Kılıç, Sara Şebnem, AAH-1658-2021

مصطلحات موضوعية: Dermatology, Mycology

Relation: Makale - Uluslararası Hakemli Dergi; Mycoses; Yurt dışı; Sanayi; Depner, M. vd. (2012). "Gain-of-function mutations in STAT1: A new molecular cause for patients with chronic mucocutaneous candidiasis". Mycoses, 55(Supplement 4), Special Issue , 319-319.; http://hdl.handle.net/11452/26557; 000305069801339; 319; 55; Supplement 4, Special Issue

الاتاحة: http://hdl.handle.net/11452/26557

المؤلفون: Woellner C., Gertz E. M., Schäffer A. A., Lagos M., Perro M., Glocker E. O., Pietrogrande M. C., Cossu F., Franco J. L., Matamoros N., Pietrucha B., Heropolitańska Pliszka E., Yeganeh M., Moin M., Español T., Ehl S., Gennery A. R., Abinun M., Bręborowicz A., Niehues T., Kilic S. S., Junker A., Turvey S. E., Plebani A., Sánchez B., Garty B. Z., PIGNATA, CLAUDIO, Cancrini C., Litzman J., Sanal O., Baumann U., Bacchetta R., Hsu A. P., Davis J. N., Hammarström L., Davies E. G., Eren E., Arkwright P. D., Moilanen J. S., Viemann D., Khan S., Maródi L., Cant A. J., Freeman A. F., Puck J. M., Holland S. H., Grimbacher B.

المساهمون: Woellner, C., Gertz, E. M., Schäffer, A. A., Lagos, M., Perro, M., Glocker, E. O., Pietrogrande, M. C., Cossu, F., Franco, J. L., Matamoros, N., Pietrucha, B., Heropolitańska Pliszka, E., Yeganeh, M., Moin, M., Español, T., Ehl, S., Gennery, A. R., Abinun, M., Bręborowicz, A., Niehues, T., Kilic, S. S., Junker, A., Turvey, S. E., Plebani, A., Sánchez, B., Garty, B. Z., Pignata, Claudio, Cancrini, C., Litzman, J., Sanal, O., Baumann, U., Bacchetta, R., Hsu, A. P., Davis, J. N., Hammarström, L., Davies, E. G., Eren, E., Arkwright, P. D., Moilanen, J. S., Viemann, D., Khan, S., Maródi, L., Cant, A. J., Freeman, A. F., Puck, J. M., Holland, S. H., Grimbacher, B.

مصطلحات موضوعية: Hyper-IgE syndrome, HIES, Job syndrome, TH17 cell, STAT3 mutation, diagnostic guideline, Immunodeficiencies

وصف الملف: ELETTRONICO

Relation: info:eu-repo/semantics/altIdentifier/wos/WOS:000276805800010; volume:125; firstpage:424; lastpage:432.e8; numberofpages:17; journal:JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY; http://hdl.handle.net/11588/363103; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-76049116822

الاتاحة: http://hdl.handle.net/11588/363103
https://doi.org/10.1016/j.jaci.2009.10.059

المؤلفون: Abinun, M., Gennery, A. R., Glocker, E.-O., Perro, M., Grimbacher, B., Holland, S. M., Puck, J. M., Freeman, A. F., Cant, A. J., Marodi, L., Khan, S., Viemann, D., Moilanen, J. S., Arkwright, P. D., Eren, E., Davies, G. E., Hammarstrom, L., Davis, J. N., Hsu, A. P., Bacchetta, R., Batimann, U., Sanal, O., Litzman, J., Cancrini, C., Pignata, C., Garty, B-Z, Sanchez, B., Plebani, A., Turvey, S. E., Junker, A., Kilic, S. S., Niehues, T., Breborowicz, A., Ehl, S., Espanol, T., Moin, M., Yeganch, M., Heropolitanska-Pliszka, E., Pietrucha, B., Matamoros, N., Franco, J. L., Cossu, F., Pietrogrande, M. C., Lagos, M., Schaffer, A. A., Gertz, M. E., Woellner, C.

الاتاحة: https://avesis.hacettepe.edu.tr/publication/details/abf52228-285a-47b0-87e8-0760fabc36dc/oai

المؤلفون: Woellner, C., Gertz, E. M., Schaeffer, A. A., Lagos, M., Perro, M., Pietrogrande, M. C., Cossu, F., Franco, J. L., Matamoros, N., Pietrucha, B., Heropolianska-Pliszka, E., Yeganeh, M., Espanol, T., Ehl, S., Gennery, A. R., Abinun, M., Breborowicz, A., Niehues, T., Junker, A., Turvey, S., Plebani, A., Sanchez, B., Garty, B. Z., Pignata, C., Cancrini, C., Litzman, J., Sanal, O., Baumann, U., Bacchetta, R., Hsu, A., Hammarstrom, L., Davies, E. G., Eren, E., Arkwright, P. D., Moilanen, J. S., Viemann, D., Khan, S., Marodi, L., Cant, A. M., Puck, J. M., Holland, S. M., Grimbacher, B.

المساهمون: Bursa Uludağ Üniversitesi/Tıp Fakültesi/Çocuk Sağlığı ve Hastalıkları Anabilim Dalı., Kılıç, Sara Şebnem, KILIÇ GÜLTEKİN, SARA ŞEBNEM, AAH-1658-2021

مصطلحات موضوعية: Science & technology, Life sciences & biomedicine, Immunology

Relation: Konferans Öğesi - Uluslararası; Clinical And Experimental Immunology; https://hdl.handle.net/11452/48665; 000262727500288; 154; 155; Supplement 1

الاتاحة: https://hdl.handle.net/11452/48665

المؤلفون: Abinun, M., Gennery, A. R., Perro, M., Woellner, C., Cant, A. M., Khan, S., Arkwright, P. D., Eren, E., Davies, E. G., Grimbacher, B., Holland, S. M., Puck, J. M., Marodi, L., Viemann, D., Moilanen, J. S., Hammarstrom, L., Hsu, A., Bacchetta, R., Baumann, U., Sanal, O., Litzman, J., Cancrini, C., Pignata, C., Garty, B. Z., Sanchez, B., Plebani, A., Turvey, S., Junker, A., Kilic, S. S., Niehues, T., Breborowicz, A., Ehl, S., Espanol, T., Yeganeh, M., Heropolianska-Pliszka, E., Pietrucha, B., Matamoros, N., Franco, J. L., Cossu, F., Pietrogrande, M. C., Lagos, M., Schaeffer, A. A., Gertz, E. M.

الاتاحة: https://avesis.hacettepe.edu.tr/publication/details/9a310a92-99e4-4a8d-be00-9938e3f9fb35/oai

المؤلفون: Woellner, C., Gertz, M. E., Schaffer, A. A., Lagos, M., Perro, M., Glocker, E. -O, Pietrogrande, M. C., Cossu, F., Franco, J. L., Matamoros, N., Pietrucha, B., Heropolitanska-Pliszka, E., Yeganch, M., Moin, M., Espanol, T., Ehl, S., Gennery, A. R., Abinun, M., Breborowicz, A., Niehues, T., Kilic, S. S., Junker, A., Turvey, S. E., Plebani, A., Sanchez, B., Garty, B-Z, Pignata, C., Cancrini, C., Litzman, J., Sanal, O., Batimann, U., Bacchetta, R., Hsu, A. P., Davis, J. N., Hammarstrom, L., Davies, G. E., Eren, E., Arkwright, P. D., Moilanen, J. S., Viemann, D., Sujoy Khan, Marodi, L., Cant, A. J., Freeman, A. F., Puck, J. M., Holland, S. M., Grimbacher, B.

المساهمون: Woellner, C., Gertz, E. M., Schäffer, A. A., Lagos, M., Perro, M., Glocker, E. O., Pietrogrande, M. C., Cossu, F., Franco, J. L., Matamoros, N., Pietrucha, B., Heropolitańska Pliszka, E., Yeganeh, M., Moin, M., Español, T., Ehl, S., Gennery, A. R., Abinun, M., Bręborowicz, A., Niehues, T., Kilic, S. S., Junker, A., Turvey, S. E., Plebani, A., Sánchez, B., Garty, B. Z., Pignata, Claudio, Cancrini, C., Litzman, J., Sanal, O., Baumann, U., Bacchetta, R., Hsu, A. P., Davis, J. N., Hammarström, L., Davies, E. G., Eren, E., Arkwright, P. D., Moilanen, J. S., Viemann, D., Khan, S., Maródi, L., Cant, A. J., Freeman, A. F., Puck, J. M., Holland, S. H., Grimbacher, B.

المصدر: ResearcherID
Web of Science

مصطلحات موضوعية: Hyper-IgE syndrome, STAT3 mutation, TH17 cell, Job syndrome, diagnostic guideline, HIES, Immunodeficiencies

وصف الملف: ELETTRONICO

URL الوصول: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::34e6a951f905e75ba6a72825083ec86e
http://hdl.handle.net/11588/363103

المؤلفون: Vihinen, M., Arredondo-Vega, F. X., Casanova, J. L., Etzioni, A., Giliani, S., Hammarstrom, L., Hershfield, M. S., Heyworth, P. G., Hsu, A. P., Lahdesmaki, A., Lappalainen, I., Notarangelo, L. D., Puck, J. M., Reith, Walter, Roos, D., Schumacher, R. F., Schwarz, K., Vezzoni, P., Villa, A., Valiaho, J., Smith, C. I.

المصدر: ISSN: 0065-2660 ; Advances in genetics, vol. 43 (2001) p. 103-188.

مصطلحات موضوعية: info:eu-repo/classification/ddc/616.07, Alleles, Chromosome Mapping, CpG Islands, Databases, Factual, Genotype, Humans, Immunologic Deficiency Syndromes/ genetics, Models, Genetic, Mutation, Missense, Phenotype

Relation: info:eu-repo/semantics/altIdentifier/pmid/11037300; https://archive-ouverte.unige.ch/unige:10993; unige:10993

الاتاحة: https://archive-ouverte.unige.ch/unige:10993

المؤلفون: Conley, M E, Puck, J M

المصدر: Pediatric Research ; volume 21, issue 4, page 310A-310A ; ISSN 0031-3998 1530-0447

الاتاحة: http://dx.doi.org/10.1203/00006450-198704010-00857