共 24 条
[1]
Relevance of laboratory testing for the diagnosis of primary immunodeficiencies: A review of case-based examples of selected immunodeficiencies
[J].
Abraham R.S.
.
Clinical and Molecular Allergy,
9 (1)

Abraham R.S.
论文数: 0 引用数: 0
h-index: 0
机构:
Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN
[2]
Primary immunodefciency diseases: an update on the classification from the International Union of Immunological Societies Expert Committee for Priary Immunodeficiency
[J].
Al-Herz, Waleed
;
Bousfiha, Aziz
;
Casanova, Jean-Laurent
;
Chapel, Helen
;
Conley, Mary Ellen
;
Cunningham-Rundles, Charlotte
;
Etzioni, Amos
;
Fischer, Alain
;
Luis Franco, Jose
;
Geha, Raif S.
;
Hammarstrom, Lennart
;
Nonoyama, Shigeaki
;
Notarangelo, Luigi Daniele
;
Ochs, Hans Dieter
;
Puck, Jennifer M.
;
Roifman, Chaim M.
;
Seger, Reinhard
;
Tang, Mimi L. K.
.
FRONTIERS IN IMMUNOLOGY,
2011, 2

Al-Herz, Waleed
论文数: 0 引用数: 0
h-index: 0
机构:
Kuwait Univ, Dept Pediat, Kuwait, Kuwait
Al Sabah Hosp, Dept Pediat, Allergy & Clin Immunol Unit, Kuwait, Kuwait Kuwait Univ, Dept Pediat, Kuwait, Kuwait

Bousfiha, Aziz
论文数: 0 引用数: 0
h-index: 0
机构:
King Hassan II Univ, Casablanca Children Hosp, Ibn Rochd Med Sch, Clin Immunol Unit, Casablanca, Morocco Kuwait Univ, Dept Pediat, Kuwait, Kuwait

Casanova, Jean-Laurent
论文数: 0 引用数: 0
h-index: 0
机构:
Rockefeller Univ, Rockefeller Branch, St Giles Lab Human Genet Infect Dis, New York, NY 10021 USA
Univ Paris 05, Necker Med Sch, Lab Human Genet Infect Dis, Necker Branch, Paris, France
INSERM, U980, Paris, France Kuwait Univ, Dept Pediat, Kuwait, Kuwait

Chapel, Helen
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Oxford, Nuffield Dept Med, Clin Immunol Unit, Oxford, England Kuwait Univ, Dept Pediat, Kuwait, Kuwait

Conley, Mary Ellen
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Tennessee, Coll Med, Dept Pediat, Memphis, TN 38163 USA
St Jude Childrens Res Hosp, Dept Immunol, Memphis, TN 38105 USA Kuwait Univ, Dept Pediat, Kuwait, Kuwait

Cunningham-Rundles, Charlotte
论文数: 0 引用数: 0
h-index: 0
机构:
Mt Sinai Sch Med, Dept Med & Pediat, New York, NY USA Kuwait Univ, Dept Pediat, Kuwait, Kuwait

Etzioni, Amos
论文数: 0 引用数: 0
h-index: 0
机构:
Technion Israel Inst Technol, Meyers Children Hosp, Haifa, Israel Kuwait Univ, Dept Pediat, Kuwait, Kuwait

Fischer, Alain
论文数: 0 引用数: 0
h-index: 0
机构:
Paris Descartes Univ, Hop Necker Enfants Malad, AP HP, Pediat Hematol Immunol Unit,Necker Med Sch, Paris, France Kuwait Univ, Dept Pediat, Kuwait, Kuwait

Luis Franco, Jose
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Antioquia, Grp Primary Immunodeficiencies, Medellin, Colombia Kuwait Univ, Dept Pediat, Kuwait, Kuwait

Geha, Raif S.
论文数: 0 引用数: 0
h-index: 0
机构:
Childrens Hosp, Div Immunol, Boston, MA 02115 USA Kuwait Univ, Dept Pediat, Kuwait, Kuwait

Hammarstrom, Lennart
论文数: 0 引用数: 0
h-index: 0
机构:
Karolinska Inst, Karolinska Univ Hosp Huddinge, Dept Lab Med, Div Clin Immunol, Stockholm, Sweden Kuwait Univ, Dept Pediat, Kuwait, Kuwait

Nonoyama, Shigeaki
论文数: 0 引用数: 0
h-index: 0
机构:
Natl Def Med Coll, Dept Pediat, Saitama, Japan Kuwait Univ, Dept Pediat, Kuwait, Kuwait

Notarangelo, Luigi Daniele
论文数: 0 引用数: 0
h-index: 0
机构:
Childrens Hosp, Div Immunol, Boston, MA 02115 USA
Childrens Hosp, Manton Ctr Orphan Dis Res, Boston, MA 02115 USA Kuwait Univ, Dept Pediat, Kuwait, Kuwait

Ochs, Hans Dieter
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Washington, Dept Pediat, Seattle, WA 98195 USA
Seattle Childrens Res Inst, Seattle, WA USA Kuwait Univ, Dept Pediat, Kuwait, Kuwait

Puck, Jennifer M.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Calif San Francisco, Dept Pediat, San Francisco, CA USA
Univ Calif San Francisco, Benioff Childrens Hosp, San Francisco, CA 94143 USA Kuwait Univ, Dept Pediat, Kuwait, Kuwait

Roifman, Chaim M.
论文数: 0 引用数: 0
h-index: 0
机构:
Hosp Sick Children, Dept Pediat, Div Immunol & Allergy, Toronto, ON M5G 1X8, Canada
Univ Toronto, Toronto, ON, Canada Kuwait Univ, Dept Pediat, Kuwait, Kuwait

Seger, Reinhard
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Childrens Hosp, Div Immunol, Zurich, Switzerland Kuwait Univ, Dept Pediat, Kuwait, Kuwait

Tang, Mimi L. K.
论文数: 0 引用数: 0
h-index: 0
机构:
Royal Childrens Hosp Melbourne, Dept Allergy & Immunol, Melbourne, Vic, Australia
Murdoch Childrens Res Inst, Melbourne, Vic, Australia
Univ Melbourne, Dept Paediat, Melbourne, Vic, Australia Kuwait Univ, Dept Pediat, Kuwait, Kuwait
[3]
[Anonymous], 1993, DETECT HANDLE OUTLIE
[4]
Multiple pathogenic and benign genomic rearrangements occur at a 35 kb duplication involving the NEMO and LAGE2 genes
[J].
Aradhya, S
;
Bardaro, T
;
Galgóczy, P
;
Yamagata, T
;
Esposito, T
;
Patlan, H
;
Ciccodicola, A
;
Munnich, A
;
Kenwrick, S
;
Platzer, M
;
D'Urso, M
;
Nelson, DL
.
HUMAN MOLECULAR GENETICS,
2001, 10 (22)
:2557-2567

Aradhya, S
论文数: 0 引用数: 0
h-index: 0
机构: Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA

Bardaro, T
论文数: 0 引用数: 0
h-index: 0
机构: Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA

Galgóczy, P
论文数: 0 引用数: 0
h-index: 0
机构: Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA

Yamagata, T
论文数: 0 引用数: 0
h-index: 0
机构: Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA

Esposito, T
论文数: 0 引用数: 0
h-index: 0
机构: Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA

Patlan, H
论文数: 0 引用数: 0
h-index: 0
机构: Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA

Ciccodicola, A
论文数: 0 引用数: 0
h-index: 0
机构: Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA

Munnich, A
论文数: 0 引用数: 0
h-index: 0
机构: Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA

Kenwrick, S
论文数: 0 引用数: 0
h-index: 0
机构: Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA

Platzer, M
论文数: 0 引用数: 0
h-index: 0
机构: Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA

D'Urso, M
论文数: 0 引用数: 0
h-index: 0
机构: Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA

Nelson, DL
论文数: 0 引用数: 0
h-index: 0
机构: Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA
[5]
Exome sequencing reveals a pallidin mutation in a Hermansky-Pudlak-like primary immunodeficiency syndrome
[J].
Badolato, Raffaele
;
Prandini, Alberto
;
Caracciolo, Sonia
;
Colombo, Francesca
;
Tabellini, Giovanna
;
Giacomelli, Mauro
;
Cantarini, Maria E.
;
Pession, Andrea
;
Bell, Callum J.
;
Dinwiddie, Darrell L.
;
Miller, Neil A.
;
Hateley, Shannon L.
;
Saunders, Carol J.
;
Zhang, Lu
;
Schroth, Gary P.
;
Plebani, Alessandro
;
Parolini, Silvia
;
Kingsmore, Stephen F.
.
BLOOD,
2012, 119 (13)
:3185-3187

Badolato, Raffaele
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Brescia, Pediat Clin, I-25123 Brescia, BS, Italy
Univ Brescia, Angelo Nocivelli Inst Mol Med, I-25123 Brescia, BS, Italy Univ Brescia, Pediat Clin, I-25123 Brescia, BS, Italy

Prandini, Alberto
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Brescia, Pediat Clin, I-25123 Brescia, BS, Italy
Univ Brescia, Angelo Nocivelli Inst Mol Med, I-25123 Brescia, BS, Italy
Univ Trieste, Scuola Dottorato Sci Riprod & Sviluppo, Trieste, Italy Univ Brescia, Pediat Clin, I-25123 Brescia, BS, Italy

Caracciolo, Sonia
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Brescia, Pediat Clin, I-25123 Brescia, BS, Italy
Univ Brescia, Angelo Nocivelli Inst Mol Med, I-25123 Brescia, BS, Italy Univ Brescia, Pediat Clin, I-25123 Brescia, BS, Italy

Colombo, Francesca
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Brescia, Pediat Clin, I-25123 Brescia, BS, Italy
Univ Brescia, Angelo Nocivelli Inst Mol Med, I-25123 Brescia, BS, Italy Univ Brescia, Pediat Clin, I-25123 Brescia, BS, Italy

Tabellini, Giovanna
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Brescia, Dipartimento Sci Biomed & Biotecnol, I-25123 Brescia, BS, Italy Univ Brescia, Pediat Clin, I-25123 Brescia, BS, Italy

Giacomelli, Mauro
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Brescia, Pediat Clin, I-25123 Brescia, BS, Italy
Univ Brescia, Angelo Nocivelli Inst Mol Med, I-25123 Brescia, BS, Italy
Univ Trieste, Scuola Dottorato Sci Riprod & Sviluppo, Trieste, Italy Univ Brescia, Pediat Clin, I-25123 Brescia, BS, Italy

Cantarini, Maria E.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Bologna, Div Oncoematol Pediat & Terapia Cellulare, Bologna, Italy Univ Brescia, Pediat Clin, I-25123 Brescia, BS, Italy

Pession, Andrea
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Bologna, Div Oncoematol Pediat & Terapia Cellulare, Bologna, Italy Univ Brescia, Pediat Clin, I-25123 Brescia, BS, Italy

Bell, Callum J.
论文数: 0 引用数: 0
h-index: 0
机构:
Natl Ctr Genome Resources, Santa Fe, NM USA Univ Brescia, Pediat Clin, I-25123 Brescia, BS, Italy

Dinwiddie, Darrell L.
论文数: 0 引用数: 0
h-index: 0
机构:
Childrens Mercy Hosp, Ctr Pediat Genom Med, Kansas City, MO 64108 USA Univ Brescia, Pediat Clin, I-25123 Brescia, BS, Italy

Miller, Neil A.
论文数: 0 引用数: 0
h-index: 0
机构:
Childrens Mercy Hosp, Ctr Pediat Genom Med, Kansas City, MO 64108 USA Univ Brescia, Pediat Clin, I-25123 Brescia, BS, Italy

Hateley, Shannon L.
论文数: 0 引用数: 0
h-index: 0
机构:
Natl Ctr Genome Resources, Santa Fe, NM USA Univ Brescia, Pediat Clin, I-25123 Brescia, BS, Italy

Saunders, Carol J.
论文数: 0 引用数: 0
h-index: 0
机构:
Childrens Mercy Hosp, Ctr Pediat Genom Med, Kansas City, MO 64108 USA Univ Brescia, Pediat Clin, I-25123 Brescia, BS, Italy

Zhang, Lu
论文数: 0 引用数: 0
h-index: 0
机构:
Illumina Inc, Hayward, CA USA Univ Brescia, Pediat Clin, I-25123 Brescia, BS, Italy

Schroth, Gary P.
论文数: 0 引用数: 0
h-index: 0
机构:
Illumina Inc, Hayward, CA USA Univ Brescia, Pediat Clin, I-25123 Brescia, BS, Italy

Plebani, Alessandro
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Brescia, Pediat Clin, I-25123 Brescia, BS, Italy
Univ Brescia, Angelo Nocivelli Inst Mol Med, I-25123 Brescia, BS, Italy Univ Brescia, Pediat Clin, I-25123 Brescia, BS, Italy

论文数: 引用数:
h-index:
机构:

Kingsmore, Stephen F.
论文数: 0 引用数: 0
h-index: 0
机构:
Childrens Mercy Hosp, Ctr Pediat Genom Med, Kansas City, MO 64108 USA Univ Brescia, Pediat Clin, I-25123 Brescia, BS, Italy
[6]
Neonatal diagnosis of severe combined immunodeficiency leads to significantly improved survival outcome: the case for newborn screening
[J].
Brown, Lucinda
;
Xu-Bayford, Jinhua
;
Allwood, Zoe
;
Slatter, Mary
;
Cant, Andrew
;
Davies, E. Graham
;
Veys, Paul
;
Gennery, Andrew R.
;
Gaspar, H. Bobby
.
BLOOD,
2011, 117 (11)
:3243-3246

Brown, Lucinda
论文数: 0 引用数: 0
h-index: 0
机构:
Great Ormond St Hosp Natl Hlth Serv Trust, Dept Clin Immunol, London, England UCL Inst Child Hlth, Mol Immunol Unit, Ctr Immunodeficiency, London WC1N 1EH, England

Xu-Bayford, Jinhua
论文数: 0 引用数: 0
h-index: 0
机构:
Great Ormond St Hosp Natl Hlth Serv Trust, Dept Clin Immunol, London, England UCL Inst Child Hlth, Mol Immunol Unit, Ctr Immunodeficiency, London WC1N 1EH, England

Allwood, Zoe
论文数: 0 引用数: 0
h-index: 0
机构:
Great Ormond St Hosp Natl Hlth Serv Trust, Dept Clin Immunol, London, England UCL Inst Child Hlth, Mol Immunol Unit, Ctr Immunodeficiency, London WC1N 1EH, England

Slatter, Mary
论文数: 0 引用数: 0
h-index: 0
机构:
Newcastle Gen Hosp, Dept Immunol & Bone Marrow Transplant, Newcastle Upon Tyne NE4 6BE, Tyne & Wear, England UCL Inst Child Hlth, Mol Immunol Unit, Ctr Immunodeficiency, London WC1N 1EH, England

Cant, Andrew
论文数: 0 引用数: 0
h-index: 0
机构:
Newcastle Gen Hosp, Dept Immunol & Bone Marrow Transplant, Newcastle Upon Tyne NE4 6BE, Tyne & Wear, England UCL Inst Child Hlth, Mol Immunol Unit, Ctr Immunodeficiency, London WC1N 1EH, England

Davies, E. Graham
论文数: 0 引用数: 0
h-index: 0
机构:
Great Ormond St Hosp Natl Hlth Serv Trust, Dept Clin Immunol, London, England UCL Inst Child Hlth, Mol Immunol Unit, Ctr Immunodeficiency, London WC1N 1EH, England

Veys, Paul
论文数: 0 引用数: 0
h-index: 0
机构:
Great Ormond St Hosp Natl Hlth Serv Trust, Dept Blood & Marrow Transplantat, London, England UCL Inst Child Hlth, Mol Immunol Unit, Ctr Immunodeficiency, London WC1N 1EH, England

Gennery, Andrew R.
论文数: 0 引用数: 0
h-index: 0
机构:
Newcastle Gen Hosp, Dept Immunol & Bone Marrow Transplant, Newcastle Upon Tyne NE4 6BE, Tyne & Wear, England UCL Inst Child Hlth, Mol Immunol Unit, Ctr Immunodeficiency, London WC1N 1EH, England

Gaspar, H. Bobby
论文数: 0 引用数: 0
h-index: 0
机构:
UCL Inst Child Hlth, Mol Immunol Unit, Ctr Immunodeficiency, London WC1N 1EH, England
Great Ormond St Hosp Natl Hlth Serv Trust, Dept Clin Immunol, London, England UCL Inst Child Hlth, Mol Immunol Unit, Ctr Immunodeficiency, London WC1N 1EH, England
[7]
Use of whole exome and genome sequencing in the identification of genetic causes of primary immunodeficiencies
[J].
Chou, Janet
;
Ohsumi, Toshiro K.
;
Geha, Raif S.
.
CURRENT OPINION IN ALLERGY AND CLINICAL IMMUNOLOGY,
2012, 12 (06)
:623-628

Chou, Janet
论文数: 0 引用数: 0
h-index: 0
机构:
Boston Childrens Hosp, Div Immunol, Boston, MA 02115 USA
Harvard Univ, Sch Med, Dept Pediat, Boston, MA 02115 USA Boston Childrens Hosp, Div Immunol, Boston, MA 02115 USA

Ohsumi, Toshiro K.
论文数: 0 引用数: 0
h-index: 0
机构:
Massachusetts Gen Hosp, Dept Mol Biol, Boston, MA 02114 USA
Harvard Univ, Sch Med, Dept Genet, Boston, MA USA Boston Childrens Hosp, Div Immunol, Boston, MA 02115 USA

Geha, Raif S.
论文数: 0 引用数: 0
h-index: 0
机构:
Boston Childrens Hosp, Div Immunol, Boston, MA 02115 USA
Harvard Univ, Sch Med, Dept Pediat, Boston, MA 02115 USA Boston Childrens Hosp, Div Immunol, Boston, MA 02115 USA
[8]
Mutations in Z8T824 Are Associated with Immunodeficiency, Centromeric Instability, and Facial Anomalies Syndrome Type 2
[J].
de Greef, Jessica C.
;
Wang, Jun
;
Balog, Judit
;
den Dunnen, Johan T.
;
Frants, Rune R.
;
Straasheijm, Kirsten R.
;
Aytekin, Caner
;
van der Burg, Mirjam
;
Duprez, Laurence
;
Ferster, Alina
;
Gennery, Andrew R.
;
Gimelli, Giorgio
;
Reisli, Ismail
;
Schuetz, Catharina
;
Schulz, Ansgar
;
Smeets, Dominique F. C. M.
;
Sznajer, Yves
;
Wijmenga, Cisca
;
van Eggermond, Maria C.
;
van Ostaijen-ten Dam, Monique M.
;
Lankester, Arjan C.
;
van Tol, Maarten J. D.
;
van den Elsen, Peter J.
;
Weemaes, Corry M.
;
van der Maarel, Silvere M.
.
AMERICAN JOURNAL OF HUMAN GENETICS,
2011, 88 (06)
:796-804

de Greef, Jessica C.
论文数: 0 引用数: 0
h-index: 0
机构:
Leiden Univ, Med Ctr, Dept Human Genet, NL-2333 ZA Leiden, Netherlands Leiden Univ, Med Ctr, Dept Human Genet, NL-2333 ZA Leiden, Netherlands

Wang, Jun
论文数: 0 引用数: 0
h-index: 0
机构:
Leiden Univ, Med Ctr, Dept Human Genet, NL-2333 ZA Leiden, Netherlands Leiden Univ, Med Ctr, Dept Human Genet, NL-2333 ZA Leiden, Netherlands

Balog, Judit
论文数: 0 引用数: 0
h-index: 0
机构:
Leiden Univ, Med Ctr, Dept Human Genet, NL-2333 ZA Leiden, Netherlands Leiden Univ, Med Ctr, Dept Human Genet, NL-2333 ZA Leiden, Netherlands

den Dunnen, Johan T.
论文数: 0 引用数: 0
h-index: 0
机构:
Leiden Univ, Med Ctr, Dept Human Genet, NL-2333 ZA Leiden, Netherlands Leiden Univ, Med Ctr, Dept Human Genet, NL-2333 ZA Leiden, Netherlands

Frants, Rune R.
论文数: 0 引用数: 0
h-index: 0
机构:
Leiden Univ, Med Ctr, Dept Human Genet, NL-2333 ZA Leiden, Netherlands Leiden Univ, Med Ctr, Dept Human Genet, NL-2333 ZA Leiden, Netherlands

Straasheijm, Kirsten R.
论文数: 0 引用数: 0
h-index: 0
机构:
Leiden Univ, Med Ctr, Dept Human Genet, NL-2333 ZA Leiden, Netherlands Leiden Univ, Med Ctr, Dept Human Genet, NL-2333 ZA Leiden, Netherlands

Aytekin, Caner
论文数: 0 引用数: 0
h-index: 0
机构:
Dr Sami Ulus Childrens Hlth & Dis Training & Res, Dept Pediat Immunol, TR-06080 Ankara, Turkey Leiden Univ, Med Ctr, Dept Human Genet, NL-2333 ZA Leiden, Netherlands

van der Burg, Mirjam
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Med Ctr Rotterdam, Erasmus Med Ctr, Dept Immunol, NL-3015 CE Rotterdam, Netherlands Leiden Univ, Med Ctr, Dept Human Genet, NL-2333 ZA Leiden, Netherlands

Duprez, Laurence
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Libre Bruxelles, Hop Erasme, Dept Med Genet, B-1070 Brussels, Belgium Leiden Univ, Med Ctr, Dept Human Genet, NL-2333 ZA Leiden, Netherlands

Ferster, Alina
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Libre Bruxelles, Hop Univ Enfants Reine Fabiola, Dept Paediat, Haematooncol Unit, B-1070 Brussels, Belgium Leiden Univ, Med Ctr, Dept Human Genet, NL-2333 ZA Leiden, Netherlands

Gennery, Andrew R.
论文数: 0 引用数: 0
h-index: 0
机构:
NHS Fdn Trust, Newcastle Tyne Hosp, Dept Paediat Immunol, Newcastle Upon Tyne, Tyne & Wear, England
Newcastle Univ, Inst Cellular Med, Newcastle Upon Tyne NE7 7DN, Tyne & Wear, England Leiden Univ, Med Ctr, Dept Human Genet, NL-2333 ZA Leiden, Netherlands

Gimelli, Giorgio
论文数: 0 引用数: 0
h-index: 0
机构:
Inst Giannina Gaslini, Lab Citogenet, I-16148 Genoa, Italy Leiden Univ, Med Ctr, Dept Human Genet, NL-2333 ZA Leiden, Netherlands

Reisli, Ismail
论文数: 0 引用数: 0
h-index: 0
机构:
Selcuk Univ, Dept Pediat Immunol & Allergy, TR-42003 Konya, Turkey Leiden Univ, Med Ctr, Dept Human Genet, NL-2333 ZA Leiden, Netherlands

Schuetz, Catharina
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Hosp Ulm, Dept Pediat & Adolescent Med, D-89075 Ulm, Germany Leiden Univ, Med Ctr, Dept Human Genet, NL-2333 ZA Leiden, Netherlands

Schulz, Ansgar
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Hosp Ulm, Dept Pediat & Adolescent Med, D-89075 Ulm, Germany Leiden Univ, Med Ctr, Dept Human Genet, NL-2333 ZA Leiden, Netherlands

Smeets, Dominique F. C. M.
论文数: 0 引用数: 0
h-index: 0
机构:
Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, NL-6526 GA Nijmegen, Netherlands Leiden Univ, Med Ctr, Dept Human Genet, NL-2333 ZA Leiden, Netherlands

Sznajer, Yves
论文数: 0 引用数: 0
h-index: 0
机构:
Hop Univ Enfants Reine Fabiola HUDERF, Ctr Human Genet, B-1020 Brussels, Belgium Leiden Univ, Med Ctr, Dept Human Genet, NL-2333 ZA Leiden, Netherlands

Wijmenga, Cisca
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Med Ctr Groningen, Genet Dept, NL-9713 GZ Groningen, Netherlands
Univ Groningen, NL-9713 GZ Groningen, Netherlands Leiden Univ, Med Ctr, Dept Human Genet, NL-2333 ZA Leiden, Netherlands

van Eggermond, Maria C.
论文数: 0 引用数: 0
h-index: 0
机构:
Leiden Univ, Med Ctr, Dept Immunohematol & Blood Transfus, NL-2333 ZA Leiden, Netherlands Leiden Univ, Med Ctr, Dept Human Genet, NL-2333 ZA Leiden, Netherlands

van Ostaijen-ten Dam, Monique M.
论文数: 0 引用数: 0
h-index: 0
机构:
Leiden Univ, Med Ctr, Dept Pediat, NL-2333 ZA Leiden, Netherlands Leiden Univ, Med Ctr, Dept Human Genet, NL-2333 ZA Leiden, Netherlands

Lankester, Arjan C.
论文数: 0 引用数: 0
h-index: 0
机构:
Leiden Univ, Med Ctr, Dept Pediat, NL-2333 ZA Leiden, Netherlands Leiden Univ, Med Ctr, Dept Human Genet, NL-2333 ZA Leiden, Netherlands

van Tol, Maarten J. D.
论文数: 0 引用数: 0
h-index: 0
机构:
Leiden Univ, Med Ctr, Dept Pediat, NL-2333 ZA Leiden, Netherlands Leiden Univ, Med Ctr, Dept Human Genet, NL-2333 ZA Leiden, Netherlands

van den Elsen, Peter J.
论文数: 0 引用数: 0
h-index: 0
机构:
Leiden Univ, Med Ctr, Dept Immunohematol & Blood Transfus, NL-2333 ZA Leiden, Netherlands
Vrije Univ Amsterdam, Med Ctr, Dept Pathol, NL-1081 HV Amsterdam, Netherlands Leiden Univ, Med Ctr, Dept Human Genet, NL-2333 ZA Leiden, Netherlands

Weemaes, Corry M.
论文数: 0 引用数: 0
h-index: 0
机构:
Radboud Univ Nijmegen, Nijmegen Med Ctr, Dept Paediat Infect Dis & Immunol, NL-6526 GA Nijmegen, Netherlands Leiden Univ, Med Ctr, Dept Human Genet, NL-2333 ZA Leiden, Netherlands

van der Maarel, Silvere M.
论文数: 0 引用数: 0
h-index: 0
机构:
Leiden Univ, Med Ctr, Dept Human Genet, NL-2333 ZA Leiden, Netherlands Leiden Univ, Med Ctr, Dept Human Genet, NL-2333 ZA Leiden, Netherlands
[9]
Array-Based Sequence Capture and Next-Generation Sequencing for the Identification of Primary Immunodeficiencies
[J].
Ghosh, S.
;
Krux, F.
;
Binder, V.
;
Gombert, M.
;
Niehues, T.
;
Feyen, O.
;
Laws, H. -J.
;
Borkhardt, A.
.
SCANDINAVIAN JOURNAL OF IMMUNOLOGY,
2012, 75 (03)
:350-354

Ghosh, S.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Hosp Dusseldorf, Dept Pediat Oncol Hematol & Clin Immunol, D-40225 Dusseldorf, Germany Univ Hosp Dusseldorf, Dept Pediat Oncol Hematol & Clin Immunol, D-40225 Dusseldorf, Germany

Krux, F.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Hosp Dusseldorf, Dept Pediat Oncol Hematol & Clin Immunol, D-40225 Dusseldorf, Germany Univ Hosp Dusseldorf, Dept Pediat Oncol Hematol & Clin Immunol, D-40225 Dusseldorf, Germany

Binder, V.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Hosp Dusseldorf, Dept Pediat Oncol Hematol & Clin Immunol, D-40225 Dusseldorf, Germany Univ Hosp Dusseldorf, Dept Pediat Oncol Hematol & Clin Immunol, D-40225 Dusseldorf, Germany

Gombert, M.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Hosp Dusseldorf, Dept Pediat Oncol Hematol & Clin Immunol, D-40225 Dusseldorf, Germany Univ Hosp Dusseldorf, Dept Pediat Oncol Hematol & Clin Immunol, D-40225 Dusseldorf, Germany

Niehues, T.
论文数: 0 引用数: 0
h-index: 0
机构:
Helios Hosp Krefeld, Dept Pediat, Krefeld, Germany Univ Hosp Dusseldorf, Dept Pediat Oncol Hematol & Clin Immunol, D-40225 Dusseldorf, Germany

Feyen, O.
论文数: 0 引用数: 0
h-index: 0
机构:
TAVARLIN AG, Neuss, Germany Univ Hosp Dusseldorf, Dept Pediat Oncol Hematol & Clin Immunol, D-40225 Dusseldorf, Germany

Laws, H. -J.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Hosp Dusseldorf, Dept Pediat Oncol Hematol & Clin Immunol, D-40225 Dusseldorf, Germany Univ Hosp Dusseldorf, Dept Pediat Oncol Hematol & Clin Immunol, D-40225 Dusseldorf, Germany

Borkhardt, A.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Hosp Dusseldorf, Dept Pediat Oncol Hematol & Clin Immunol, D-40225 Dusseldorf, Germany Univ Hosp Dusseldorf, Dept Pediat Oncol Hematol & Clin Immunol, D-40225 Dusseldorf, Germany
[10]
Multiplexed array-based and in-solution genomic enrichment for flexible and cost-effective targeted next-generation sequencing
[J].
Harakalova, Magdalena
;
Mokry, Michal
;
Hrdlickova, Barbara
;
Renkens, Ivo
;
Duran, Karen
;
van Roekel, Henk
;
Lansu, Nico
;
van Roosmalen, Mark
;
de Bruijn, Ewart
;
Nijman, Isaac J.
;
Kloosterman, Wigard P.
;
Cuppen, Edwin
.
NATURE PROTOCOLS,
2011, 6 (12)
:1870-1886

Harakalova, Magdalena
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Med Ctr Utrecht, Dept Med Genet, Utrecht, Netherlands Univ Med Ctr Utrecht, Dept Med Genet, Utrecht, Netherlands

论文数: 引用数:
h-index:
机构:

Hrdlickova, Barbara
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Med Ctr Utrecht, Dept Med Genet, Utrecht, Netherlands Univ Med Ctr Utrecht, Dept Med Genet, Utrecht, Netherlands

Renkens, Ivo
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Med Ctr Utrecht, Dept Med Genet, Utrecht, Netherlands Univ Med Ctr Utrecht, Dept Med Genet, Utrecht, Netherlands

Duran, Karen
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Med Ctr Utrecht, Dept Med Genet, Utrecht, Netherlands Univ Med Ctr Utrecht, Dept Med Genet, Utrecht, Netherlands

van Roekel, Henk
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Med Ctr Utrecht, Hubrecht Inst, Royal Dutch Acad Arts & Sci, Utrecht, Netherlands Univ Med Ctr Utrecht, Dept Med Genet, Utrecht, Netherlands

Lansu, Nico
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Med Ctr Utrecht, Hubrecht Inst, Royal Dutch Acad Arts & Sci, Utrecht, Netherlands Univ Med Ctr Utrecht, Dept Med Genet, Utrecht, Netherlands

van Roosmalen, Mark
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Med Ctr Utrecht, Dept Med Genet, Utrecht, Netherlands Univ Med Ctr Utrecht, Dept Med Genet, Utrecht, Netherlands

de Bruijn, Ewart
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Med Ctr Utrecht, Hubrecht Inst, Royal Dutch Acad Arts & Sci, Utrecht, Netherlands Univ Med Ctr Utrecht, Dept Med Genet, Utrecht, Netherlands

Nijman, Isaac J.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Med Ctr Utrecht, Hubrecht Inst, Royal Dutch Acad Arts & Sci, Utrecht, Netherlands Univ Med Ctr Utrecht, Dept Med Genet, Utrecht, Netherlands

Kloosterman, Wigard P.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Med Ctr Utrecht, Dept Med Genet, Utrecht, Netherlands Univ Med Ctr Utrecht, Dept Med Genet, Utrecht, Netherlands

Cuppen, Edwin
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Med Ctr Utrecht, Dept Med Genet, Utrecht, Netherlands
Univ Med Ctr Utrecht, Hubrecht Inst, Royal Dutch Acad Arts & Sci, Utrecht, Netherlands Univ Med Ctr Utrecht, Dept Med Genet, Utrecht, Netherlands