Result Number | Material Type | Add to My Shelf Action | Record Details and Options |
---|---|---|---|
1 |
![]() ![]() ![]() Material Type: Livro
|
![]() |
Primary immunodeficiency diseases a molecular and genetic approachHans D. Ochs 1936-; C. I. Edvard Smith 1951-; Jennifer Puck 1949-New York Oxford University Press 2007Acesso online. A biblioteca também possui exemplares impressos. |
2 |
Material Type: Artigo de Congresso
|
![]() |
The extended clinical phenotype of 36 patients with chronic mucocutaneous candidiasis due to gain of function mutations in STATIN. Frede M Depner; J Raabe; R Doffinger; E Gkrania-Klotsas; D Kumararatne; T. P Atkinson; H. W Schroeder; T Niehues; C. M. A Jacob; M. M. S Carneiro-Sampaio; G Duckers; J Puck; E. M Eisenstein; A Stay-Pedersen; U Bauman; R. E Schmidt; J. L Franco; J. C Orrego; M Ben-Shoshan; C McCusker; L. A Devlin; J. D Edgar; P Henderson; T Dyrso; S. L Seneviratne; J Wanders; H Stauss; I Meyts; L Moens; M Jesenak; B Grimbacher; Biennal Meeting of the European Society for Immunodeficiencies/ ESID 2014 (16. Praga/Republic TchecaJournal of Clinical Immunology New York v. 34, supl 2, p. S339, 2014New York 2014Localização: FM - Fac. Medicina (BCSEP 286 2014 )(Acessar) |
3 |
Material Type: Artigo
|
![]() |
Broad-spectrum antibodies against self-antigens and cytokines in RAG deficiencyJolan E. Walter Lindsey B Rosen; Krisztian Csomos; Jacob M Rosenberg; Divij Mathew; Marton Keszei; Boglarka Ujhazi; Karin Chen; Yu Nee Lee; Irit Tirosh; Kerry Dobbs; Waleed Al-Herz; Morton J Cowan; Jennifer Puck; Jack J Blessing; Michael S Grimley; Harry Malech; Suk See De Ravin; Andrew R Gennery; Roshini S Abraham; Avni Y Joshi; Thomas G Boyce; Manish J Butte; Kari C Nadeau; Imelda Balboni; Kathleen E Sullivan; Javeed Akhter; Mehdi Adeli; Reem A El-Feky; Dalia H El-Ghoneimy; Ghassan Dbaibo; Rima Wakim; Chiara Azzari; Paolo Palma; Caterina Cancrini; Kelly Capuder; Antonio Condino-Neto; Beatriz Tavares Costa-Carvalho; João Bosco Oliveira; Chaim Roifman; David Buchbinder; Attila Kumanovics; Jose Luis Franco; Tim Niehues; Catharina Schuetz; Taco Kuijpers; Christina Yee; Janet Chou; Michel J Masaad; Raif Geha; Gulbu Uzel; Rebecca Gelman; Steven M Holland; Mike Recher; Paul J Utz; Sarah K Browne; Luigi D NotarangeloJournal of Clinical Investigation Ann Arbor v. 125, n. 11, p. 4135-4148, 2015Ann Arbor 2015Item não circula. Consulte sua biblioteca.(Acessar) |
4 |
Material Type: Artigo
|
![]() |
Introducing exceptional growth mining-Analyzing the impact of soil characteristics on on-farm crop growth and yield variabilityMulders, Puck J A M ; van den Heuvel, Edwin R ; Reidsma, Pytrik ; Duivesteijn, Wouter Omara, TimothyPloS one, 2024-01, Vol.19 (1), p.e0296684-e0296684 [Periódico revisado por pares]United States: Public Library of ScienceTexto completo disponível |
5 |
Material Type: Artigo
|
![]() |
Hypomorphic RAG deficiency: impact of disease burden on survival and thymic recovery argues for early diagnosis and HSCTSchuetz, 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.Blood, 2023-02, Vol.141 (7), p.713-724 [Periódico revisado por pares]United States: Elsevier IncTexto completo disponível |
6 |
Material Type: Artigo
|
![]() |
Functional Gastrointestinal Disorders and Joint Hypermobility: A School-based StudySaps, Miguel ; Bloom, Puck J.J ; Velasco-Benitez, Carlos A ; Benninga, Marc AJournal of pediatric gastroenterology and nutrition, 2018-03, Vol.66 (3), p.387-390 [Periódico revisado por pares]United States: by European Society for Pediatric Gastroenterology, Hepatology, and Nutrition and North American Society for Pediatric GastroenterologyTexto completo disponível |
7 |
Material Type: Artigo
|
![]() |
Current gaps in knowledge in inherited arrhythmia syndromesPeltenburg, Puck J. ; Crotti, Lia ; Roston, Thomas M. ; van der Werf, ChristianNetherlands heart journal, 2023-08, Vol.31 (7-8), p.272-281Houten: Bohn Stafleu van LoghumTexto completo disponível |
8 |
Material Type: Artigo
|
![]() |
Repeatability of ventricular arrhythmia characteristics on the exercise-stress test in RYR2-mediated catecholaminergic polymorphic ventricular tachycardiaPeltenburg, Puck J ; Pultoo, Sanjeev N J ; Tobert, Kathryn E ; Bos, J Martijn ; Lieve, Krystien V V ; Tanck, Michael ; Clur, Sally-Ann B ; Blom, Nico A ; Ackerman, Michael J ; Wilde, Arthur A M ; van der Werf, ChristianEuropace (London, England), 2023-02, Vol.25 (2), p.619-626 [Periódico revisado por pares]England: Oxford University PressTexto completo disponível |
9 |
Material Type: Artigo
|
![]() |
Unconditioned unrelated donor bone marrow transplantation for IL7Rα- and Artemis-deficient SCIDDvorak, C C ; Patel, K ; Puck, J M ; Wahlstrom, J ; Dorsey, M J ; Adams, R ; Facchino, J ; Cowan, M JBone marrow transplantation (Basingstoke), 2017-07, Vol.52 (7), p.1036-1038 [Periódico revisado por pares]England: Nature Publishing GroupTexto completo disponível |
10 |
Material Type: Artigo
|
![]() |
Prognosis and clinical management of asymptomatic family members with RYR2 -mediated catecholaminergic polymorphic ventricular tachycardia: a reviewPeltenburg, Puck J ; Gibson, Harry ; Wilde, Arthur A M ; van der Werf, Christian ; Clur, Sally-Ann B ; Blom, Nico ACardiology in the young, 2024-04, p.1-8 [Periódico revisado por pares]EnglandTexto completo disponível |