Results
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21.
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Two CGD Families with a Hypomorphic Mutation in the Activation Domain of p67 [electronic resource] by
- Roos, Dirk
- van Buul, Jaap D
- Tool, Anton Tj
- Matute, Juan D
- Marchal, Christophe M
- Hayee, Bu'Hussain
- Köker, M Yavuz
- de Boer, Martin
- van Leeuwen, Karin
- Segal, Anthony W
- Pick, Edgar
- Dinauer, Mary C
Publication details: Journal of clinical & cellular immunology Jun 2014
In:
Journal of clinical & cellular immunology vol. 5
Availability: No items available.
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22.
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Clinical, functional, and genetic characterization of chronic granulomatous disease in 89 Turkish patients. [electronic resource] by
- Köker, Mustafa Yavuz
- Camcıoğlu, Yıldız
- van Leeuwen, Karin
- Kılıç, Sara Şebnem
- Barlan, Işıl
- Yılmaz, Mustafa
- Metin, Ayşe
- de Boer, Martin
- Avcılar, Hüseyin
- Patıroğlu, Türkan
- Yıldıran, Alişan
- Yeğin, Olcay
- Tezcan, Ilhan
- Sanal, Özden
- Roos, Dirk
Producer: 20140107
In:
The Journal of allergy and clinical immunology vol. 132
Availability: No items available.
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23.
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Hematologically important mutations: the autosomal recessive forms of chronic granulomatous disease (second update). [electronic resource] by
- Roos, Dirk
- Kuhns, Douglas B
- Maddalena, Anne
- Bustamante, Jacinta
- Kannengiesser, Caroline
- de Boer, Martin
- van Leeuwen, Karin
- Köker, M Yavuz
- Wolach, Baruch
- Roesler, Joachim
- Malech, Harry L
- Holland, Steven M
- Gallin, John I
- Stasia, Marie-José
Producer: 20100730
In:
Blood cells, molecules & diseases vol. 44
Availability: No items available.
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24.
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Hermansky-Pudlak syndrome type 2: Aberrant pre-mRNA splicing and mislocalization of granule proteins in neutrophils. [electronic resource] by
- de Boer, Martin
- van Leeuwen, Karin
- Geissler, Judy
- van Alphen, Floris
- de Vries, Esther
- van der Kuip, Martijn
- Terheggen, Suzanne W J
- Janssen, Hans
- van den Berg, Timo K
- Meijer, Alexander B
- Roos, Dirk
- Kuijpers, Taco W
Producer: 20180510
In:
Human mutation vol. 38
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25.
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Presence of a high amount of stroma and downregulation of SMAD4 predict for worse survival for stage I-II colon cancer patients. [electronic resource] by
- Mesker, Wilma E
- Liefers, Gerrit-Jan
- Junggeburt, Jan M C
- van Pelt, Gabi W
- Alberici, Paola
- Kuppen, Peter J K
- Miranda, Noel F
- van Leeuwen, Karin A M
- Morreau, Hans
- Szuhai, Karoly
- Tollenaar, Rob A E M
- Tanke, Hans J
Producer: 20090723
In:
Cellular oncology : the official journal of the International Society for Cellular Oncology vol. 31
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26.
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Chronic granulomatous disease: Clinical, functional, molecular, and genetic studies. The Israeli experience with 84 patients. [electronic resource] by
- Wolach, Baruch
- Gavrieli, Ronit
- de Boer, Martin
- van Leeuwen, Karin
- Berger-Achituv, Sivan
- Stauber, Tal
- Ben Ari, Josef
- Rottem, Menachem
- Schlesinger, Yechiel
- Grisaru-Soen, Galia
- Abuzaitoun, Omar
- Marcus, Nufar
- Zion Garty, Ben
- Broides, Arnon
- Levy, Jakov
- Stepansky, Polina
- Etzioni, Amos
- Somech, Raz
- Roos, Dirk
Producer: 20170706
In:
American journal of hematology vol. 92
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27.
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A false-carrier state for the c.579G>A mutation in the NCF1 gene in Ashkenazi Jews. [electronic resource] by
- De Boer, Martin
- Gavrieli, Ronit
- van Leeuwen, Karin
- Wolf, Haike Reznik
- Dushnitzki, Maya
- Bar-Yosef, Yifaat
- Bar-Ziv, Anat
- Behar, Doron
- Lipitz, Shlomo
- Miller, Tal Elkan
- Tool, Anton T J
- Kuijpers, Taco W
- van den Berg, Timo K
- Wolach, Baruch
- Roos, Dirk
- Pras, Elon
Producer: 20190920
In:
Journal of medical genetics vol. 55
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28.
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Alu-repeat-induced deletions within the NCF2 gene causing p67-phox-deficient chronic granulomatous disease (CGD). [electronic resource] by
- Gentsch, Marcus
- Kaczmarczyk, Aneta
- van Leeuwen, Karin
- de Boer, Martin
- Kaus-Drobek, Magdalena
- Dagher, Marie-Claire
- Kaiser, Petra
- Arkwright, Peter D
- Gahr, Manfred
- Rösen-Wolff, Angela
- Bochtler, Matthias
- Secord, Elizabeth
- Britto-Williams, Pamela
- Saifi, Gulam Mustafa
- Maddalena, Anne
- Dbaibo, Ghassan
- Bustamante, Jacinta
- Casanova, Jean-Laurent
- Roos, Dirk
- Roesler, Joachim
Producer: 20100422
In:
Human mutation vol. 31
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29.
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Identification of genetic biomarkers for alloimmunization in sickle cell disease. [electronic resource] by
- Meinderts, Sanne M
- Gerritsma, Jorn J
- Sins, Joep W R
- de Boer, Martin
- van Leeuwen, Karin
- Biemond, Bart J
- Rijneveld, Anita W
- Kerkhoffs, Jean-Louis H
- Habibi, Anoosha
- van Bruggen, Robin
- Kuijpers, Taco W
- van der Schoot, Ellen
- Pirenne, France
- Fijnvandraat, Karin
- Tanck, Michael W
- van den Berg, Timo K
Producer: 20200601
In:
British journal of haematology vol. 186
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30.
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Hematologically important mutations: leukocyte adhesion deficiency (first update). [electronic resource] by
- van de Vijver, Edith
- Maddalena, Anne
- Sanal, Özden
- Holland, Steven M
- Uzel, Gulbu
- Madkaikar, Manisha
- de Boer, Martin
- van Leeuwen, Karin
- Köker, M Yavuz
- Parvaneh, Nima
- Fischer, Alain
- Law, S K Alex
- Klein, Nigel
- Tezcan, F Ilhan
- Unal, Ekrem
- Patiroglu, Turkan
- Belohradsky, Bernd H
- Schwartz, Klaus
- Somech, Raz
- Kuijpers, Taco W
- Roos, Dirk
Producer: 20120913
In:
Blood cells, molecules & diseases vol. 48
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31.
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Combined immunodeficiency with severe inflammation and allergy caused by ARPC1B deficiency. [electronic resource] by
- Kuijpers, Taco W
- Tool, Anton T J
- van der Bijl, Ivo
- de Boer, Martin
- van Houdt, Michel
- de Cuyper, Iris M
- Roos, Dirk
- van Alphen, Floris
- van Leeuwen, Karin
- Cambridge, Emma L
- Arends, Mark J
- Dougan, Gordon
- Clare, Simon
- Ramirez-Solis, Ramiro
- Pals, Steven T
- Adams, David J
- Meijer, Alexander B
- van den Berg, Timo K
Producer: 20190410
In:
The Journal of allergy and clinical immunology vol. 140
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32.
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Hematologically important mutations: X-linked chronic granulomatous disease (third update). [electronic resource] by
- Roos, Dirk
- Kuhns, Douglas B
- Maddalena, Anne
- Roesler, Joachim
- Lopez, Juan Alvaro
- Ariga, Tadashi
- Avcin, Tadej
- de Boer, Martin
- Bustamante, Jacinta
- Condino-Neto, Antonio
- Di Matteo, Gigliola
- He, Jianxin
- Hill, Harry R
- Holland, Steven M
- Kannengiesser, Caroline
- Köker, M Yavuz
- Kondratenko, Irina
- van Leeuwen, Karin
- Malech, Harry L
- Marodi, László
- Nunoi, Hiroyuki
- Stasia, Marie-José
- Ventura, Anna Maria
- Witwer, Carl T
- Wolach, Baruch
- Gallin, John I
Producer: 20101230
In:
Blood cells, molecules & diseases vol. 45
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33.
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Inherited p40phox deficiency differs from classic chronic granulomatous disease. [electronic resource] by
- van de Geer, Annemarie
- Nieto-Patlán, Alejandro
- Kuhns, Douglas B
- Tool, Anton Tj
- Arias, Andrés A
- Bouaziz, Matthieu
- de Boer, Martin
- Franco, José Luis
- Gazendam, Roel P
- van Hamme, John L
- van Houdt, Michel
- van Leeuwen, Karin
- Verkuijlen, Paul Jh
- van den Berg, Timo K
- Alzate, Juan F
- Arango-Franco, Carlos A
- Batura, Vritika
- Bernasconi, Andrea R
- Boardman, Barbara
- Booth, Claire
- Burns, Siobhan O
- Cabarcas, Felipe
- Bensussan, Nadine Cerf
- Charbit-Henrion, Fabienne
- Corveleyn, Anniek
- Deswarte, Caroline
- Azcoiti, María Esnaola
- Foell, Dirk
- Gallin, John I
- Garcés, Carlos
- Guedes, Margarida
- Hinze, Claas H
- Holland, Steven M
- Hughes, Stephen M
- Ibañez, Patricio
- Malech, Harry L
- Meyts, Isabelle
- Moncada-Velez, Marcela
- Moriya, Kunihiko
- Neves, Esmeralda
- Oleastro, Matias
- Perez, Laura
- Rattina, Vimel
- Oleaga-Quintas, Carmen
- Warner, Neil
- Muise, Aleixo M
- López, Jeanet Serafín
- Trindade, Eunice
- Vasconcelos, Julia
- Vermeire, Séverine
- Wittkowski, Helmut
- Worth, Austen
- Abel, Laurent
- Dinauer, Mary C
- Arkwright, Peter D
- Roos, Dirk
- Casanova, Jean-Laurent
- Kuijpers, Taco W
- Bustamante, Jacinta
Producer: 20190924
In:
The Journal of clinical investigation vol. 128
Availability: No items available.
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