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1
Primary immunodeficiency diseases a molecular and genetic approach
Primary immunodeficiency diseases a molecular and genetic approach
Primary immunodeficiency diseases a molecular and genetic approach
Material Type:
Livro 		Adicionar ao Meu Espaço

Primary immunodeficiency diseases a molecular and genetic approach

Hans D. Ochs 1936-; C. I. Edvard Smith 1951-; Jennifer Puck 1949-

New York Oxford University Press 2007

Acesso online. A biblioteca também possui exemplares impressos.

2
The extended clinical phenotype of 36 patients with chronic mucocutaneous candidiasis due to gain of function mutations in STATI
The extended clinical phenotype of 36 patients with chronic mucocutaneous candidiasis due to gain of function mutations in STATI
Material Type:
Artigo de Congresso 		Adicionar ao Meu Espaço

The extended clinical phenotype of 36 patients with chronic mucocutaneous candidiasis due to gain of function mutations in STATI

N. 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 Tcheca

Journal of Clinical Immunology New York v. 34, supl 2, p. S339, 2014

New York 2014

Localização: FM - Fac. Medicina    (BCSEP 286 2014 )(Acessar)

3
Broad-spectrum antibodies against self-antigens and cytokines in RAG deficiency
Broad-spectrum antibodies against self-antigens and cytokines in RAG deficiency
Material Type:
Artigo 		Adicionar ao Meu Espaço

Broad-spectrum antibodies against self-antigens and cytokines in RAG deficiency

Jolan 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 Notarangelo

Journal of Clinical Investigation Ann Arbor v. 125, n. 11, p. 4135-4148, 2015

Ann Arbor 2015

Item não circula. Consulte sua biblioteca.(Acessar)

4
Introducing exceptional growth mining-Analyzing the impact of soil characteristics on on-farm crop growth and yield variability
Introducing exceptional growth mining-Analyzing the impact of soil characteristics on on-farm crop growth and yield variability
Material Type:
Artigo 		Adicionar ao Meu Espaço

Introducing exceptional growth mining-Analyzing the impact of soil characteristics on on-farm crop growth and yield variability

Mulders, Puck J A M ; van den Heuvel, Edwin R ; Reidsma, Pytrik ; Duivesteijn, Wouter Omara, Timothy

PloS one, 2024-01, Vol.19 (1), p.e0296684-e0296684 [Periódico revisado por pares]

United States: Public Library of Science

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5
Hypomorphic RAG deficiency: impact of disease burden on survival and thymic recovery argues for early diagnosis and HSCT
Hypomorphic RAG deficiency: impact of disease burden on survival and thymic recovery argues for early diagnosis and HSCT
Material Type:
Artigo 		Adicionar ao Meu Espaço

Hypomorphic RAG deficiency: impact of disease burden on survival and thymic recovery argues for early diagnosis and HSCT

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.

Blood, 2023-02, Vol.141 (7), p.713-724 [Periódico revisado por pares]

United States: Elsevier Inc

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6
Functional Gastrointestinal Disorders and Joint Hypermobility: A School-based Study
Functional Gastrointestinal Disorders and Joint Hypermobility: A School-based Study
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Functional Gastrointestinal Disorders and Joint Hypermobility: A School-based Study

Saps, Miguel ; Bloom, Puck J.J ; Velasco-Benitez, Carlos A ; Benninga, Marc A

Journal 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 Gastroenterology

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7
Current gaps in knowledge in inherited arrhythmia syndromes
Current gaps in knowledge in inherited arrhythmia syndromes
Material Type:
Artigo 		Adicionar ao Meu Espaço

Current gaps in knowledge in inherited arrhythmia syndromes

Peltenburg, Puck J. ; Crotti, Lia ; Roston, Thomas M. ; van der Werf, Christian

Netherlands heart journal, 2023-08, Vol.31 (7-8), p.272-281

Houten: Bohn Stafleu van Loghum

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8
Repeatability of ventricular arrhythmia characteristics on the exercise-stress test in RYR2-mediated catecholaminergic polymorphic ventricular tachycardia
Repeatability of ventricular arrhythmia characteristics on the exercise-stress test in RYR2-mediated catecholaminergic polymorphic ventricular tachycardia
Material Type:
Artigo 		Adicionar ao Meu Espaço

Repeatability of ventricular arrhythmia characteristics on the exercise-stress test in RYR2-mediated catecholaminergic polymorphic ventricular tachycardia

Peltenburg, 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, Christian

Europace (London, England), 2023-02, Vol.25 (2), p.619-626 [Periódico revisado por pares]

England: Oxford University Press

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9
Unconditioned unrelated donor bone marrow transplantation for IL7Rα- and Artemis-deficient SCID
Unconditioned unrelated donor bone marrow transplantation for IL7Rα- and Artemis-deficient SCID
Material Type:
Artigo 		Adicionar ao Meu Espaço

Unconditioned unrelated donor bone marrow transplantation for IL7Rα- and Artemis-deficient SCID

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

Bone marrow transplantation (Basingstoke), 2017-07, Vol.52 (7), p.1036-1038 [Periódico revisado por pares]

England: Nature Publishing Group

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10
Prognosis and clinical management of asymptomatic family members with RYR2 -mediated catecholaminergic polymorphic ventricular tachycardia: a review
Prognosis and clinical management of asymptomatic family members with RYR2 -mediated catecholaminergic polymorphic ventricular tachycardia: a review
Material Type:
Artigo 		Adicionar ao Meu Espaço

Prognosis and clinical management of asymptomatic family members with RYR2 -mediated catecholaminergic polymorphic ventricular tachycardia: a review

Peltenburg, Puck J ; Gibson, Harry ; Wilde, Arthur A M ; van der Werf, Christian ; Clur, Sally-Ann B ; Blom, Nico A

Cardiology in the young, 2024-04, p.1-8 [Periódico revisado por pares]

England

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Deste Autor:

  1. Puck, J
  2. Niehues, T
  3. Franco, J
  4. Oliveira, J
  5. Dbaibo, G

Neste Assunto:

  1. Science & Technology
  2. Life Sciences & Biomedicine
  3. Humans
  4. Female
  5. Male

  • Realização: ABCD-USP USP   Logos de Redes Sociais: Freepik

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