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Implementation of Early Next-Generation Sequencing for Inborn Errors of Immunity: A Prospective Observational Cohort Study of Diagnostic Yield and Clinical Implications in Dutch Genome Diagnostic Centers.
Published in:
Frontiers in Immunology, 2021, v. 12, p. 1, doi. 10.3389/fimmu.2021.780134
By:
- Elsink, Kim;
- Huibers, Manon M. H.;
- Hollink, Iris H. I. M.;
- Simons, Annet;
- Zonneveld-Huijssoon, Evelien;
- van der Veken, Lars T.;
- Leavis, Helen L.;
- Henriet, Stefanie S. V.;
- van Deuren, Marcel;
- van de Veerdonk, Frank L.;
- Potjewijd, Judith;
- Berghuis, Dagmar;
- Dalm, Virgil A. S. H.;
- Vermont, Clementien L.;
- van de Ven, Annick A. J. M.;
- Lambeck, Annechien J. A.;
- Abbott, Kristin M.;
- van Hagen, P. Martin;
- de Bree, Godelieve J.;
- Kuijpers, Taco W.
Publication type:
Article
Two novel cases expanding the phenotype of <italic>SETD2</italic>‐related overgrowth syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2018, v. 176, n. 5, p. 1212, doi. 10.1002/ajmg.a.38666
By:
- van Rij, Maartje C.;
- Hollink, Iris H. I. M.;
- Terhal, Paulien Anna;
- Kant, Sarina G.;
- Ruivenkamp, Claudia;
- van Haeringen, Arie;
- Kievit, J. Anneke;
- van Belzen, Martine J.
Publication type:
Article
Three patients with defects in interferon gamma receptor signaling: A challenging diagnosis.
Published in:
Pediatric Allergy & Immunology, 2022, v. 33, n. 4, p. 1, doi. 10.1111/pai.13768
By:
- Zhou, Zijun;
- Hollink, Iris H. I. M.;
- Bouman, Arjan;
- Lourens, Mirthe S.;
- Brooimans, Rik A.;
- van Ham, Tjakko J.;
- Fraaij, Pieter L. A.;
- van Rossum, Annemarie M. C.;
- Zijtregtop, Eline A. M.;
- Dik, Willem A.;
- Dalm, Virgil A. S. H.;
- van Hagen, P. Martin;
- Ijspeert, Hanna;
- Vermont, Clementien L.
Publication type:
Article
Novel RAB27A Variant Associated with Late-Onset Hemophagocytic Lymphohistiocytosis Alters Effector Protein Binding.
Published in:
Journal of Clinical Immunology, 2022, v. 42, n. 8, p. 1685, doi. 10.1007/s10875-022-01315-4
By:
- Zondag, Timo C. E.;
- Torralba-Raga, Lamberto;
- Van Laar, Jan A. M.;
- Hermans, Maud A. W.;
- Bouman, Arjen;
- Hollink, Iris H. I. M.;
- Van Hagen, P. Martin;
- Briggs, Deborah A.;
- Hume, Alistair N.;
- Bryceson, Yenan T.
Publication type:
Article
Parents' Perspectives and Societal Acceptance of Implementation of Newborn Screening for SCID in the Netherlands.
Published in:
Journal of Clinical Immunology, 2021, v. 41, n. 1, p. 99, doi. 10.1007/s10875-020-00886-4
By:
- Blom, Maartje;
- Bredius, Robbert G. M.;
- Jansen, Marleen E.;
- Weijman, Gert;
- Kemper, Evelien A.;
- Vermont, Clementien L.;
- Hollink, Iris H. I. M.;
- Dik, Willem A.;
- van Montfrans, Joris M.;
- van Gijn, Mariëlle E.;
- Henriet, Stefanie S.;
- van Aerde, Koen J.;
- Koole, Wouter;
- Lankester, Arjan C.;
- Dekkers, Eugènie H. B. M.;
- Schielen, Peter C. J. I.;
- de Vries, Martine C.;
- Henneman, Lidewij;
- van der Burg, Mirjam
Publication type:
Article
A novel tissue-based ß-catenin gene and immunohistochemical analysis to exclude familial adenomatous polyposis among children with hepatoblastoma tumors.
Published in:
2018
By:
- Dubbink, Hendrikus J.;
- Hollink, Iris H. I. M.;
- Avenca Valente, Carolina;
- Wang, Wenhui;
- Liu, Pengyu;
- Doukas, Michail;
- van Noesel, Max M.;
- Dinjens, Winand N. M.;
- Wagner, Anja;
- Smits, Ron
Publication type:
journal article
High frequency of copy number alterations in myeloid leukaemia of Down syndrome.
Published in:
British Journal of Haematology, 2012, v. 158, n. 6, p. 800, doi. 10.1111/j.1365-2141.2012.09224.x
By:
- Blink, Marjolein;
- Heuvel-Eibrink, Marry M.;
- Aalbers, Anna M.;
- Balgobind, Brian V.;
- Hollink, Iris H. I. M.;
- Meijerink, Jules P. P.;
- Velden, Vincent H. J.;
- Beverloo, Berna H.;
- Haas, Valerie;
- Hasle, Henrik;
- Reinhardt, Dirk;
- Klusmann, Jan-Henning;
- Pieters, Rob;
- Calado, Rodrigo T.;
- Zwaan, Christian M.
Publication type:
Article

Found: 7

Implementation of Early Next-Generation Sequencing for Inborn Errors of Immunity: A Prospective Observational Cohort Study of Diagnostic Yield and Clinical Implications in Dutch Genome Diagnostic Centers.

Two novel cases expanding the phenotype of <italic>SETD2</italic>‐related overgrowth syndrome.

Three patients with defects in interferon gamma receptor signaling: A challenging diagnosis.

Novel RAB27A Variant Associated with Late-Onset Hemophagocytic Lymphohistiocytosis Alters Effector Protein Binding.

Parents' Perspectives and Societal Acceptance of Implementation of Newborn Screening for SCID in the Netherlands.

A novel tissue-based ß-catenin gene and immunohistochemical analysis to exclude familial adenomatous polyposis among children with hepatoblastoma tumors.

High frequency of copy number alterations in myeloid leukaemia of Down syndrome.