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Radboud Univ Nijmegen, Med Ctr, Inst Genet & Metab Dis, Dept Neurol, NL-6525 ED Nijmegen, Netherlands Radboud Univ Nijmegen, Med Ctr, Inst Genet & Metab Dis, Dept Neurol, NL-6525 ED Nijmegen, Netherlands

Schuurs-Hoeijmakers, Janneke H. M.
论文数: 0 引用数: 0
h-index: 0
机构:
Nijmegen Ctr Mol Life Sci, Donders Inst Brain Cognit & Behav, Dept Human Genet, Nijmegen, Netherlands Radboud Univ Nijmegen, Med Ctr, Inst Genet & Metab Dis, Dept Neurol, NL-6525 ED Nijmegen, Netherlands

Absmanner, Birgit
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Regensburg, Dept Cell Biol & Plant Biochem, Regensburg, Germany Radboud Univ Nijmegen, Med Ctr, Inst Genet & Metab Dis, Dept Neurol, NL-6525 ED Nijmegen, Netherlands

Verrijp, Kiek
论文数: 0 引用数: 0
h-index: 0
机构:
Radboud Univ Nijmegen, Med Ctr, Dept Pathol, NL-6525 ED Nijmegen, Netherlands Radboud Univ Nijmegen, Med Ctr, Inst Genet & Metab Dis, Dept Neurol, NL-6525 ED Nijmegen, Netherlands

van den Akker, Willem M. R.
论文数: 0 引用数: 0
h-index: 0
机构:
Nijmegen Ctr Mol Life Sci, Donders Inst Brain Cognit & Behav, Dept Human Genet, Nijmegen, Netherlands Radboud Univ Nijmegen, Med Ctr, Inst Genet & Metab Dis, Dept Neurol, NL-6525 ED Nijmegen, Netherlands

Huijben, Karin
论文数: 0 引用数: 0
h-index: 0
机构:
Radboud Univ Nijmegen, Med Ctr, Inst Genet & Metab Dis, Dept Lab Med, NL-6525 ED Nijmegen, Netherlands Radboud Univ Nijmegen, Med Ctr, Inst Genet & Metab Dis, Dept Neurol, NL-6525 ED Nijmegen, Netherlands

Steenbergen, Gerry
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机构:
Radboud Univ Nijmegen, Med Ctr, Inst Genet & Metab Dis, Dept Lab Med, NL-6525 ED Nijmegen, Netherlands Radboud Univ Nijmegen, Med Ctr, Inst Genet & Metab Dis, Dept Neurol, NL-6525 ED Nijmegen, Netherlands

van Reeuwijk, Jeroen
论文数: 0 引用数: 0
h-index: 0
机构:
Nijmegen Ctr Mol Life Sci, Donders Inst Brain Cognit & Behav, Dept Human Genet, Nijmegen, Netherlands Radboud Univ Nijmegen, Med Ctr, Inst Genet & Metab Dis, Dept Neurol, NL-6525 ED Nijmegen, Netherlands

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Zucker, Nili
论文数: 0 引用数: 0
h-index: 0
机构:
Schneider Childrens Med Ctr Israel, Inst Heart, Petach Tikwa, Israel Radboud Univ Nijmegen, Med Ctr, Inst Genet & Metab Dis, Dept Neurol, NL-6525 ED Nijmegen, Netherlands

Lorber, Avraham
论文数: 0 引用数: 0
h-index: 0
机构:
Technion Israel Inst Technol, Rambam Med Ctr, Meyer Childrens Hosp, Metab Unit, Haifa, Israel
Technion Israel Inst Technol, Rambam Med Ctr, Meyer Childrens Hosp, Unit Pediat Cardiol, Haifa, Israel Radboud Univ Nijmegen, Med Ctr, Inst Genet & Metab Dis, Dept Neurol, NL-6525 ED Nijmegen, Netherlands

Lammens, Martin
论文数: 0 引用数: 0
h-index: 0
机构:
Radboud Univ Nijmegen, Med Ctr, Dept Pathol, NL-6525 ED Nijmegen, Netherlands Radboud Univ Nijmegen, Med Ctr, Inst Genet & Metab Dis, Dept Neurol, NL-6525 ED Nijmegen, Netherlands

Knopf, Carlos
论文数: 0 引用数: 0
h-index: 0
机构:
Technion Israel Inst Technol, Rambam Med Ctr, Meyer Childrens Hosp, Metab Unit, Haifa, Israel
Technion Israel Inst Technol, Rambam Med Ctr, Meyer Childrens Hosp, Unit Pediat Cardiol, Haifa, Israel Radboud Univ Nijmegen, Med Ctr, Inst Genet & Metab Dis, Dept Neurol, NL-6525 ED Nijmegen, Netherlands

van Bokhoven, Hans
论文数: 0 引用数: 0
h-index: 0
机构:
Nijmegen Ctr Mol Life Sci, Donders Inst Brain Cognit & Behav, Dept Human Genet, Nijmegen, Netherlands Radboud Univ Nijmegen, Med Ctr, Inst Genet & Metab Dis, Dept Neurol, NL-6525 ED Nijmegen, Netherlands

Gruenewald, Stephanie
论文数: 0 引用数: 0
h-index: 0
机构:
UCL, Great Ormond St Hosp, UCL Inst Child Hlth, London, England Radboud Univ Nijmegen, Med Ctr, Inst Genet & Metab Dis, Dept Neurol, NL-6525 ED Nijmegen, Netherlands

Lehle, Ludwig
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Regensburg, Dept Cell Biol & Plant Biochem, Regensburg, Germany Radboud Univ Nijmegen, Med Ctr, Inst Genet & Metab Dis, Dept Neurol, NL-6525 ED Nijmegen, Netherlands

Kapusta, Livia
论文数: 0 引用数: 0
h-index: 0
机构:
Edith Wolfson Med Ctr, Pediat Cardiol Unit, Holon, Israel Radboud Univ Nijmegen, Med Ctr, Inst Genet & Metab Dis, Dept Neurol, NL-6525 ED Nijmegen, Netherlands

Mandel, Hanna
论文数: 0 引用数: 0
h-index: 0
机构:
Technion Israel Inst Technol, Rambam Med Ctr, Meyer Childrens Hosp, Metab Unit, Haifa, Israel
Technion Israel Inst Technol, Rambam Med Ctr, Meyer Childrens Hosp, Unit Pediat Cardiol, Haifa, Israel Radboud Univ Nijmegen, Med Ctr, Inst Genet & Metab Dis, Dept Neurol, NL-6525 ED Nijmegen, Netherlands

Wevers, Ron A.
论文数: 0 引用数: 0
h-index: 0
机构:
Radboud Univ Nijmegen, Med Ctr, Inst Genet & Metab Dis, Dept Lab Med, NL-6525 ED Nijmegen, Netherlands Radboud Univ Nijmegen, Med Ctr, Inst Genet & Metab Dis, Dept Neurol, NL-6525 ED Nijmegen, Netherlands
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Deficiency of Dol-P-Man Synthase Subunit DPM3 Bridges the Congenital Disorders of Glycosylation with the Dystroglycanopathies
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Lefeber, Dirk J.
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Guillard, Mailys
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Huyben, Karin M.
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Verriip, Kiek
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Grafakou, Olga
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Evangelioi, Athanasios
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Preijers, Frank W.
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Manta, Panagiota
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Yildiz, Jef
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Gruenewald, Stephanie
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Spilioti, Martha
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van den Elzen, Christa
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Klein, Dominique
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Hess, Daniel
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Ashida, Hisashi
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AMERICAN JOURNAL OF HUMAN GENETICS,
2009, 85 (01)
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Lefeber, Dirk J.
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h-index: 0
机构:
Radboud Univ Nijmegen, Med Ctr, Inst Genet & Metab Dis, Lab Pediat & Neurol, NL-6500 HB Nijmegen, Netherlands Radboud Univ Nijmegen, Med Ctr, Inst Genet & Metab Dis, Lab Pediat & Neurol, NL-6500 HB Nijmegen, Netherlands

Schoenberger, Johannes
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Regensburg, D-93053 Regensburg, Germany Radboud Univ Nijmegen, Med Ctr, Inst Genet & Metab Dis, Lab Pediat & Neurol, NL-6500 HB Nijmegen, Netherlands

Morava, Eva
论文数: 0 引用数: 0
h-index: 0
机构:
Radboud Univ Nijmegen, Med Ctr, Dept Pediat, NL-6500 HB Nijmegen, Netherlands Radboud Univ Nijmegen, Med Ctr, Inst Genet & Metab Dis, Lab Pediat & Neurol, NL-6500 HB Nijmegen, Netherlands

Guillard, Mailys
论文数: 0 引用数: 0
h-index: 0
机构:
Radboud Univ Nijmegen, Med Ctr, Inst Genet & Metab Dis, Lab Pediat & Neurol, NL-6500 HB Nijmegen, Netherlands Radboud Univ Nijmegen, Med Ctr, Inst Genet & Metab Dis, Lab Pediat & Neurol, NL-6500 HB Nijmegen, Netherlands

Huyben, Karin M.
论文数: 0 引用数: 0
h-index: 0
机构:
Radboud Univ Nijmegen, Med Ctr, Inst Genet & Metab Dis, Lab Pediat & Neurol, NL-6500 HB Nijmegen, Netherlands Radboud Univ Nijmegen, Med Ctr, Inst Genet & Metab Dis, Lab Pediat & Neurol, NL-6500 HB Nijmegen, Netherlands

Verriip, Kiek
论文数: 0 引用数: 0
h-index: 0
机构:
Radboud Univ Nijmegen, Med Ctr, Dept Pathol, NL-6500 HB Nijmegen, Netherlands Radboud Univ Nijmegen, Med Ctr, Inst Genet & Metab Dis, Lab Pediat & Neurol, NL-6500 HB Nijmegen, Netherlands

Grafakou, Olga
论文数: 0 引用数: 0
h-index: 0
机构:
Rethymnon Gen Hosp, Dept Pediat, Rethimnon 74100, Greece Radboud Univ Nijmegen, Med Ctr, Inst Genet & Metab Dis, Lab Pediat & Neurol, NL-6500 HB Nijmegen, Netherlands

Evangelioi, Athanasios
论文数: 0 引用数: 0
h-index: 0
机构:
Aristotle Univ Thessaloniki, Pediat Clin 4, Papageorgiou Hosp, GR-56403 Thessaloniki, Greece Radboud Univ Nijmegen, Med Ctr, Inst Genet & Metab Dis, Lab Pediat & Neurol, NL-6500 HB Nijmegen, Netherlands

Preijers, Frank W.
论文数: 0 引用数: 0
h-index: 0
机构:
Radboud Univ Nijmegen, Med Ctr, Cent Hematol Lab, NL-6500 HB Nijmegen, Netherlands Radboud Univ Nijmegen, Med Ctr, Inst Genet & Metab Dis, Lab Pediat & Neurol, NL-6500 HB Nijmegen, Netherlands

Manta, Panagiota
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Athens, Dept Neurol, Athens 11528, Greece Radboud Univ Nijmegen, Med Ctr, Inst Genet & Metab Dis, Lab Pediat & Neurol, NL-6500 HB Nijmegen, Netherlands

Yildiz, Jef
论文数: 0 引用数: 0
h-index: 0
机构:
Radboud Univ Nijmegen, Med Ctr, Inst Genet & Metab Dis, Lab Pediat & Neurol, NL-6500 HB Nijmegen, Netherlands Radboud Univ Nijmegen, Med Ctr, Inst Genet & Metab Dis, Lab Pediat & Neurol, NL-6500 HB Nijmegen, Netherlands

Gruenewald, Stephanie
论文数: 0 引用数: 0
h-index: 0
机构:
Great Ormond St Hosp Sick Children, London WC1N 1EH, England Radboud Univ Nijmegen, Med Ctr, Inst Genet & Metab Dis, Lab Pediat & Neurol, NL-6500 HB Nijmegen, Netherlands

Spilioti, Martha
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Crete, Dept Neurol, Iraklion 71003, Greece Radboud Univ Nijmegen, Med Ctr, Inst Genet & Metab Dis, Lab Pediat & Neurol, NL-6500 HB Nijmegen, Netherlands

van den Elzen, Christa
论文数: 0 引用数: 0
h-index: 0
机构:
Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, NL-6500 HB Nijmegen, Netherlands Radboud Univ Nijmegen, Med Ctr, Inst Genet & Metab Dis, Lab Pediat & Neurol, NL-6500 HB Nijmegen, Netherlands

Klein, Dominique
论文数: 0 引用数: 0
h-index: 0
机构:
Friedrich Miescher Inst, CH-4058 Basel, Switzerland Radboud Univ Nijmegen, Med Ctr, Inst Genet & Metab Dis, Lab Pediat & Neurol, NL-6500 HB Nijmegen, Netherlands

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Ashida, Hisashi
论文数: 0 引用数: 0
h-index: 0
机构:
Kyoto Univ, Grad Sch Biostudies, Kyoto 6068502, Japan Radboud Univ Nijmegen, Med Ctr, Inst Genet & Metab Dis, Lab Pediat & Neurol, NL-6500 HB Nijmegen, Netherlands

Hofsteenge, Jan
论文数: 0 引用数: 0
h-index: 0
机构:
Friedrich Miescher Inst, CH-4058 Basel, Switzerland Radboud Univ Nijmegen, Med Ctr, Inst Genet & Metab Dis, Lab Pediat & Neurol, NL-6500 HB Nijmegen, Netherlands

Maeda, Yusuke
论文数: 0 引用数: 0
h-index: 0
机构:
Osaka Univ, WPI Immunol Frontier Res Ctr, Suita, Osaka 5650871, Japan Radboud Univ Nijmegen, Med Ctr, Inst Genet & Metab Dis, Lab Pediat & Neurol, NL-6500 HB Nijmegen, Netherlands

van den Heuvel, Lambert
论文数: 0 引用数: 0
h-index: 0
机构:
Radboud Univ Nijmegen, Med Ctr, Inst Genet & Metab Dis, Lab Pediat & Neurol, NL-6500 HB Nijmegen, Netherlands Radboud Univ Nijmegen, Med Ctr, Inst Genet & Metab Dis, Lab Pediat & Neurol, NL-6500 HB Nijmegen, Netherlands

Lammens, Martin
论文数: 0 引用数: 0
h-index: 0
机构:
Radboud Univ Nijmegen, Med Ctr, Dept Pathol, NL-6500 HB Nijmegen, Netherlands Radboud Univ Nijmegen, Med Ctr, Inst Genet & Metab Dis, Lab Pediat & Neurol, NL-6500 HB Nijmegen, Netherlands

Lehle, Ludwig
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Regensburg, D-93053 Regensburg, Germany Radboud Univ Nijmegen, Med Ctr, Inst Genet & Metab Dis, Lab Pediat & Neurol, NL-6500 HB Nijmegen, Netherlands

Wevers, Ron A.
论文数: 0 引用数: 0
h-index: 0
机构:
Radboud Univ Nijmegen, Med Ctr, Inst Genet & Metab Dis, Lab Pediat & Neurol, NL-6500 HB Nijmegen, Netherlands Radboud Univ Nijmegen, Med Ctr, Inst Genet & Metab Dis, Lab Pediat & Neurol, NL-6500 HB Nijmegen, Netherlands
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Mutations in the human LARGE gene cause MDC1D, a novel form of congenital muscular dystrophy with severe mental retardation and abnormal glycosylation of α-dystroglycan
[J].
Longman, C
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Brockington, M
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Torelli, S
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Jimenez-Mallebrera, C
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Kennedy, C
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Khalil, N
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Feng, L
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Saran, RK
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Voit, T
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Merlini, L
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Sewry, CA
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Brown, SC
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Muntoni, F
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HUMAN MOLECULAR GENETICS,
2003, 12 (21)
:2853-2861

Longman, C
论文数: 0 引用数: 0
h-index: 0
机构: Univ London Imperial Coll Sci Technol & Med, Dubowitz Neuromuscular Ctr, London W12 0NN, England

Brockington, M
论文数: 0 引用数: 0
h-index: 0
机构: Univ London Imperial Coll Sci Technol & Med, Dubowitz Neuromuscular Ctr, London W12 0NN, England

Torelli, S
论文数: 0 引用数: 0
h-index: 0
机构: Univ London Imperial Coll Sci Technol & Med, Dubowitz Neuromuscular Ctr, London W12 0NN, England

论文数: 引用数:
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机构:

Kennedy, C
论文数: 0 引用数: 0
h-index: 0
机构: Univ London Imperial Coll Sci Technol & Med, Dubowitz Neuromuscular Ctr, London W12 0NN, England

Khalil, N
论文数: 0 引用数: 0
h-index: 0
机构: Univ London Imperial Coll Sci Technol & Med, Dubowitz Neuromuscular Ctr, London W12 0NN, England

Feng, L
论文数: 0 引用数: 0
h-index: 0
机构: Univ London Imperial Coll Sci Technol & Med, Dubowitz Neuromuscular Ctr, London W12 0NN, England

Saran, RK
论文数: 0 引用数: 0
h-index: 0
机构: Univ London Imperial Coll Sci Technol & Med, Dubowitz Neuromuscular Ctr, London W12 0NN, England

Voit, T
论文数: 0 引用数: 0
h-index: 0
机构: Univ London Imperial Coll Sci Technol & Med, Dubowitz Neuromuscular Ctr, London W12 0NN, England

Merlini, L
论文数: 0 引用数: 0
h-index: 0
机构: Univ London Imperial Coll Sci Technol & Med, Dubowitz Neuromuscular Ctr, London W12 0NN, England

Sewry, CA
论文数: 0 引用数: 0
h-index: 0
机构: Univ London Imperial Coll Sci Technol & Med, Dubowitz Neuromuscular Ctr, London W12 0NN, England

Brown, SC
论文数: 0 引用数: 0
h-index: 0
机构: Univ London Imperial Coll Sci Technol & Med, Dubowitz Neuromuscular Ctr, London W12 0NN, England

Muntoni, F
论文数: 0 引用数: 0
h-index: 0
机构: Univ London Imperial Coll Sci Technol & Med, Dubowitz Neuromuscular Ctr, London W12 0NN, England