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Five novel mutations in the C1 inhibitor gene (C1NH) leading to a premature stop codon in patients with type I hereditary angioedema: Mutations in Brief
Five novel mutations in the C1 inhibitor gene (C1NH) leading to a premature stop codon in patients with type I hereditary angioedema: Mutations in Brief
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Five novel mutations in the C1 inhibitor gene (C1NH) leading to a premature stop codon in patients with type I hereditary angioedema: Mutations in Brief

Freiberger, Tomáš ; Kolárová, Lenka ; Mejstrík, Pavel ; Vyskocilová, Martina ; Kuklínek, Pavel ; Litzman, Jirí

Human mutation, 2002-04, Vol.19 (4), p.461-461 [Periódico revisado por pares]

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Five novel mutations in the C1 inhibitor gene (C1NH) leading to a premature stop codon in patients with type I hereditary angioedema
Five novel mutations in the C1 inhibitor gene (C1NH) leading to a premature stop codon in patients with type I hereditary angioedema
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Five novel mutations in the C1 inhibitor gene (C1NH) leading to a premature stop codon in patients with type I hereditary angioedema

Freiberger, Tomáš ; Kolárová, Lenka ; Mejstrík, Pavel ; Vyskocilová, Martina ; Kuklínek, Pavel ; Litzman, Jirí

Human mutation, 2002-04, Vol.19 (4), p.461-461 [Periódico revisado por pares]

New York: Wiley Subscription Services, Inc., A Wiley Company

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3
Wegener's granulomatosis: ischemic stroke as the first clinical manifestation (case study)
Wegener's granulomatosis: ischemic stroke as the first clinical manifestation (case study)
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Wegener's granulomatosis: ischemic stroke as the first clinical manifestation (case study)

Bares, Martin ; Muchová, Miroslava ; Dufek, Michal ; Litzman, Jirí ; Krupa, Petr ; Rektor, Ivan

Journal of neurology, 2002-11, Vol.249 (11), p.1593-1594 [Periódico revisado por pares]

Germany: Springer Nature B.V

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4
Mutations in the signal transducer and activator of transcription 3 (STAT3) and diagnostic guidelines for the Hyper-IgE Syndrome
Mutations in the signal transducer and activator of transcription 3 (STAT3) and diagnostic guidelines for the Hyper-IgE Syndrome
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Mutations in the signal transducer and activator of transcription 3 (STAT3) and diagnostic guidelines for the Hyper-IgE Syndrome

Woellner, Cristina ; Gertz, E. Michael ; Schäffer, Alejandro A. ; Lagos, Macarena ; Perro, Mario ; Glocker, Erik-Oliver ; Pietrogrande, Maria C. ; Cossu, Fausto ; Franco, José L. ; Matamoros, Nuria ; Pietrucha, Barbara ; Heropolitańska-Pliszka, Edyta ; Yeganeh, Mehdi ; Moin, Mostafa ; Español, Teresa ; Ehl, Stephan ; Gennery, Andrew R. ; Abinun, Mario ; Bręborowicz, Anna ; Niehues, Tim ; Kilic, Sara Sebnem ; Junker, Anne ; Turvey, Stuart E. ; Plebani, Alessandro ; Sánchez, Berta ; Garty, Ben-Zion ; Pignata, Claudio ; Cancrini, Caterina ; Litzman, Jiri ; Sanal, Özden ; Baumann, Ulrich ; Bacchetta, Rosa ; Hsu, Amy P. ; Davis, Joie N. ; Hammarström, Lennart ; Davies, E. Graham ; Eren, Efrem ; Arkwright, Peter D. ; Moilanen, Jukka S. ; Viemann, Dorothee ; Khan, Sujoy ; Maródi, László ; Cant, Andrew J. ; Freeman, Alexandra F. ; Puck, Jennifer M. ; Holland, Steven M. ; Grimbacher, Bodo

Journal of allergy and clinical immunology, 2010-02, Vol.125 (2), p.424-432.e8 [Periódico revisado por pares]

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Recurrent laryngeal papillomatosis: successful treatment with human papillomavirus vaccination
Recurrent laryngeal papillomatosis: successful treatment with human papillomavirus vaccination
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Recurrent laryngeal papillomatosis: successful treatment with human papillomavirus vaccination

Mudry, Peter ; Vavrina, Martin ; Mazanek, Pavel ; Machalova, Michaela ; Litzman, Jiri ; Sterba, Jaroslav

Archives of Disease in Childhood, 2011, Vol.96 (5), p.476

BMJ Publishing Group Ltd and Royal College of Paediatrics and Child Health

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Recurrent laryngeal papillomatosis: successful treatment with human papillomavirus vaccination
Recurrent laryngeal papillomatosis: successful treatment with human papillomavirus vaccination
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Recurrent laryngeal papillomatosis: successful treatment with human papillomavirus vaccination

Mudry, Peter ; Vavrina, Martin ; Mazanek, Pavel ; Machalova, Michaela ; Litzman, Jiri ; Sterba, Jaroslav

Archives of disease in childhood, 2011-05, Vol.96 (5), p.476-477 [Periódico revisado por pares]

London: BMJ Publishing Group

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7
The creation and progress of the J Project in Eastern and Central Europe
The creation and progress of the J Project in Eastern and Central Europe
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The creation and progress of the J Project in Eastern and Central Europe

Marodi, László

Annals of the New York Academy of Sciences, 2011-11, Vol.1238 (1), p.65-73 [Periódico revisado por pares]

Malden, USA: Blackwell Publishing Inc

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8
The European internet‐based patient and research database for primary immunodeficiencies: update 2011
The European internet‐based patient and research database for primary immunodeficiencies: update 2011
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The European internet‐based patient and research database for primary immunodeficiencies: update 2011

Gathmann, B. ; Binder, N. ; Ehl, S. ; Kindle, G.

Clinical and experimental immunology, 2012-03, Vol.167 (3), p.479-491 [Periódico revisado por pares]

Oxford, UK: Blackwell Publishing Ltd

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9
B-lymphocyte Subpopulations in Patients with Selective IgA Deficiency
B-lymphocyte Subpopulations in Patients with Selective IgA Deficiency
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B-lymphocyte Subpopulations in Patients with Selective IgA Deficiency

Nechvatalova, Jana ; Pikulova, Zdenka ; Stikarovska, Dagmar ; Pesak, Sava ; Vlkova, Marcela ; Litzman, Jiri

Journal of clinical immunology, 2012-06, Vol.32 (3), p.441-448 [Periódico revisado por pares]

Boston: Springer US

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New and recurrent gain-of-function STAT1 mutations in patients with chronic mucocutaneous candidiasis from Eastern and Central Europe
New and recurrent gain-of-function STAT1 mutations in patients with chronic mucocutaneous candidiasis from Eastern and Central Europe
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New and recurrent gain-of-function STAT1 mutations in patients with chronic mucocutaneous candidiasis from Eastern and Central Europe

Soltész, Beáta ; Tóth, Beáta ; Shabashova, Nadejda ; Bondarenko, Anastasia ; Okada, Satoshi ; Cypowyj, Sophie ; Abhyankar, Avinash ; Csorba, Gabriella ; Taskó, Szilvia ; Sarkadi, Adrien Katalin ; Méhes, Leonóra ; Rozsíval, Pavel ; Neumann, David ; Chernyshova, Liudmyla ; Tulassay, Zsolt ; Puel, Anne ; Casanova, Jean-Laurent ; Sediva, Anna ; Litzman, Jiri ; Maródi, László

Journal of medical genetics, 2013-09, Vol.50 (9), p.567-578 [Periódico revisado por pares]

England: BMJ Publishing Group Ltd

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