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The Swiss National Registry for Primary Immunodeficiencies: report on the first 6 years’ activity from 2008 to 2014
The Swiss National Registry for Primary Immunodeficiencies: report on the first 6 years’ activity from 2008 to 2014
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The Swiss National Registry for Primary Immunodeficiencies: report on the first 6 years’ activity from 2008 to 2014

Marschall, K. ; Hoernes, M. ; Bitzenhofer‐Grüber, M. ; Jandus, P. ; Duppenthaler, A. ; Wuillemin, W. A. ; Rischewski, J. ; Boyman, O. ; Heininger, U. ; Hauser, T. ; Steiner, U. ; Posfay‐Barbe, K. ; Seebach, J. ; Recher, M. ; Hess, C. ; Helbling, A. ; Reichenbach, J.

Clinical and experimental immunology, 2015-10, Vol.182 (1), p.45-50 [Periódico revisado por pares]

England: Wiley Subscription Services, Inc

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2
Unusual dermatological presentation and immune phenotype in SCID due to an IL7R mutation: the value of whole‐exome sequencing and the potential benefit of newborn screening
Unusual dermatological presentation and immune phenotype in SCID due to an IL7R mutation: the value of whole‐exome sequencing and the potential benefit of newborn screening
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Unusual dermatological presentation and immune phenotype in SCID due to an IL7R mutation: the value of whole‐exome sequencing and the potential benefit of newborn screening

Marquardt, L. ; Lacour, M. ; Hoernes, M. ; Opitz, L. ; Lecca, R. ; Volkmer, B. ; Reichenbach, J. ; Hohl, D. ; Ansari, M. ; Ozsahin, H. ; Güngör, T. ; Pachlopnik Schmid, J.

Journal of the European Academy of Dermatology and Venereology, 2017-03, Vol.31 (3), p.e147-e148 [Periódico revisado por pares]

England

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3
Unusual dermatological presentation and immune phenotype in SCID due to an IL 7R mutation: the value of whole‐exome sequencing and the potential benefit of newborn screening
Unusual dermatological presentation and immune phenotype in SCID due to an IL 7R mutation: the value of whole‐exome sequencing and the potential benefit of newborn screening
Material Type:
Artigo 		Adicionar ao Meu Espaço

Unusual dermatological presentation and immune phenotype in SCID due to an IL 7R mutation: the value of whole‐exome sequencing and the potential benefit of newborn screening

Marquardt, L. ; Lacour, M. ; Hoernes, M. ; Opitz, L. ; Lecca, R. ; Volkmer, B. ; Reichenbach, J. ; Hohl, D. ; Ansari, M. ; Ozsahin, H. ; Güngör, T. ; Pachlopnik Schmid, J.

Journal of the European Academy of Dermatology and Venereology, 2017-03, Vol.31 (3) [Periódico revisado por pares]

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4
Unusual dermatological presentation and immune phenotype in SCID due to an IL7R mutation: the value of whole-exome sequencing and the potential benefit of newborn screening
Unusual dermatological presentation and immune phenotype in SCID due to an IL7R mutation: the value of whole-exome sequencing and the potential benefit of newborn screening
Material Type:
Artigo 		Adicionar ao Meu Espaço

Unusual dermatological presentation and immune phenotype in SCID due to an IL7R mutation: the value of whole-exome sequencing and the potential benefit of newborn screening

Marquardt, L ; Lacour, M ; Hoernes, M ; Opitz, L ; Lecca, R ; Volkmer, B ; Reichenbach, J ; Hohl, D ; Ansari, M ; Ozsahin, H ; Güngör, T ; Pachlopnik Schmid, Jana

Wiley-Blackwell Publishing, Inc 2017

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5
Modern management of primary B-cell immunodeficiencies
Modern management of primary B-cell immunodeficiencies
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Modern management of primary B-cell immunodeficiencies

Hoernes, M ; Seger, R ; Reichenbach, J

Wiley-Blackwell 2011

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6
The Swiss National Registry for Primary Immunodeficiencies: report on the first 6 years' activity from 2008 to 2014
The Swiss National Registry for Primary Immunodeficiencies: report on the first 6 years' activity from 2008 to 2014
Material Type:
Artigo 		Adicionar ao Meu Espaço

The Swiss National Registry for Primary Immunodeficiencies: report on the first 6 years' activity from 2008 to 2014

Marschall, K ; Hoernes, M ; Bitzenhofer-Grüber, M ; Jandus, P ; Duppenthaler, A ; Wuillemin, W A ; Rischewski, J ; Boyman, O ; Heininger, U ; Hauser, T ; Steiner, U ; Posfay-Barbe, K ; Seebach, J ; Recher, M ; Hess, C ; Helbling, A ; Reichenbach, J

Wiley-Blackwell Publishing, Inc 2015-10

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7
The PedPAD study: boys predominate in the hypogammaglobulinaemia registry of the ESID online database
The PedPAD study: boys predominate in the hypogammaglobulinaemia registry of the ESID online database
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Artigo 		Adicionar ao Meu Espaço

The PedPAD study: boys predominate in the hypogammaglobulinaemia registry of the ESID online database

Schatorjé, E. J. H. ; Gathmann, B. ; Hout, R. W. N. M. ; Vries, E. ; Alsina, L ; Baumann, U ; Belohradsky, BH ; Bienemann, K ; Boardman, B ; Borte, M ; Bredius, RG ; Brodszki, N ; Caracseghi, F ; Ciznar, P ; Vries, E ; Driessen, GJ ; Dückers, G ; Duppenthaler, A ; Farmaki, E ; Galal, N ; Gennery, A ; Gonzalez‐Granado, LI ; Hlavackova, E ; Hoernes, M ; Kilic, SS ; Krüger, R ; Kuijpers, TW ; Kütükcüler, N ; Llobet, P ; Marques, L ; Montfrans, JM ; Papadopoulou‐Alataki, E ; Paschenko, O ; Pasic, S ; Pietrogrande, MC ; Pignata, C ; Reda, SM ; Reisli, I ; Roesler, J ; Santos, JL ; Schölvinck, EH ; Schulze, Ilka ; Seidel, MG ; Shcherbina, A ; Sundin, M ; Szaflarska, A ; Velbri, S ; Warnatz, K ; Warris, A

Clinical and experimental immunology, 2014-06, Vol.176 (3), p.387-393 [Periódico revisado por pares]

England: Wiley Subscription Services, Inc

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8
Unusual dermatological presentation and immune phenotype in SCID due to an IL7R mutation: the value of whole-exome sequencing and the potential benefit of newborn screening
Unusual dermatological presentation and immune phenotype in SCID due to an IL7R mutation: the value of whole-exome sequencing and the potential benefit of newborn screening
Material Type:
Report 		Adicionar ao Meu Espaço

Unusual dermatological presentation and immune phenotype in SCID due to an IL7R mutation: the value of whole-exome sequencing and the potential benefit of newborn screening

Marquardt, L ; Lacour, M ; Hoernes, M ; Opitz, L ; Lecca, R ; Volkmer, B ; Reichenbach, J ; Hohl, D ; Ansari, M ; Ozsahin, H ; Güngör, T ; Pachlopnik Schmid, J

Journal of the European Academy of Dermatology and Venereology : JEADV, 2017, Vol.31 (3), p.e147-e148

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9
Ueber den Meteorsteinfall zu Ohaba in Siebenbürgen
Ueber den Meteorsteinfall zu Ohaba in Siebenbürgen
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Ueber den Meteorsteinfall zu Ohaba in Siebenbürgen

Hörnes, M.

Annalen der Physik, 1858, Vol.181 (10), p.334-336 [Periódico revisado por pares]

Leipzig: WILEY-VCH Verlag

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