부산대학교 도서관

Janssen, AEJ; Koeck, RM; Essers, R; Cao, P; van Dijk, W; Drusedau, M; Meekels, J; Yaldiz, B; van de Vorst, M; de Koning, B; Hellebrekers, DMEI; Stevens, SJC; Sun, SM; Heijligers, M; de Munnik, SA; van Uum, CMJ; Achten, J; Hamers, L; Naghdi, M; Vissers, LELM; van Golde, RJT; de Wert, G; Dreesen, JCFM; de Die-Smulders, C; Coonen, E; Brunner, HG; van den Wijngaard, A; Paulussen, ADC; Esteki, MZ

Nature communications. 15(1):7164

Verdonschot, JAJ; Hellebrekers, DMEI; van Empel, VPM; Heijligers, M; de Munnik, S; Coonen, E; Dreesen, JCMF; van den Wijngaard, A; Brunner, HG; Esteki, MZ; Heymans, SRB; de Die-Smulders, CEM; Paulussen, ADC

Circulation. Genomic and precision medicine. 17(2):e004416

Bos TA; Department of Clinical Genetics, Leiden University Medical Centre, Leiden, The Netherlands.; Piers SRD; Department of Cardiology, Leiden University Medical Centre, Leiden, The Netherlands.; Wessels MW; Department of Clinical Genetics, Erasmus University Medical Centre, Rotterdam, The Netherlands.; Houweling AC; Department of Human Genetics, Amsterdam University Medical Centres, Amsterdam, The Netherlands.; Bökenkamp R; Department of Paediatric Cardiology, Leiden University Medical Centre, Leiden, The Netherlands.; Bootsma M; Department of Cardiology, Leiden University Medical Centre, Leiden, The Netherlands.; Bosman LP; Netherlands ACM Registry, Utrecht, The Netherlands.; Evertz R; Department of Cardiology, Radboud University Medical Centre, Nijmegen, The Netherlands.; Hellebrekers DMEI; Department of Clinical Genetics, Maastricht University Medical Centre, Maastricht, The Netherlands.; Hoedemaekers YM; Department of Human Genetics, Radboud University Medical Centre, Nijmegen, The Netherlands.; Knijnenburg J; Department of Clinical Genetics, Leiden University Medical Centre, Leiden, The Netherlands.; Lekanne Deprez R; Department of Human Genetics, Amsterdam University Medical Centres, Amsterdam, The Netherlands.; van Mil AM; Department of Clinical Genetics, Leiden University Medical Centre, Leiden, The Netherlands.; Te Riele ASJM; Netherlands ACM Registry, Utrecht, The Netherlands.; Department of Heart and Lungs, Division of Cardiology, University Medical Centre Utrecht, Utrecht, The Netherlands.; van Slegtenhorst MA; Department of Clinical Genetics, Erasmus University Medical Centre, Rotterdam, The Netherlands.; Wilde AAM; Heart Centre, Department of Cardiology, Amsterdam Cardiovascular Sciences, Heart Failure and Arrhythmias, Amsterdam University Medical Centres, Amsterdam, The Netherlands.; Yap SC; Department of Cardiology, Erasmus University Medical Centre, Rotterdam, The Netherlands.; Dooijes D; Department of Clinical Genetics, University Medical Centre Utrecht, Utrecht, The Netherlands.; Koopmann TT; Department of Clinical Genetics, Leiden University Medical Centre, Leiden, The Netherlands.; van Tintelen JP; Netherlands ACM Registry, Utrecht, The Netherlands.; Department of Clinical Genetics, University Medical Centre Utrecht, Utrecht, The Netherlands.; Barge-Schaapveld DQCM; Department of Clinical Genetics, Leiden University Medical Centre, Leiden, The Netherlands. d.q.c.m.barge-schaapveld@lumc.nl.

Publisher: Bohn Stafleu van Loghum Country of Publication: Netherlands NLM ID: 101095458 Publication Model: Print-Electronic Cited Medium: Print ISSN: 1568-5888 (Print) Linking ISSN: 15685888 NLM ISO Abbreviation: Neth Heart J Subsets: PubMed not MEDLINE

Hellebrekers DMEI; MUMC+, afd. Klinische Genetica, Maastricht.; Contact: Debby M.E.I. Hellebrekers (debby.hellebrekers@mumc.nl).; de Die-Smulders CEM; MUMC+, afd. Klinische Genetica, Maastricht.; Janssen MCH; Radboudumc, afd. Interne Geneeskunde, Nijmegen.

Publisher: Vereniging NTvG Country of Publication: Netherlands NLM ID: 0400770 Publication Model: Electronic Cited Medium: Internet ISSN: 1876-8784 (Electronic) Linking ISSN: 00282162 NLM ISO Abbreviation: Ned Tijdschr Geneeskd Subsets: MEDLINE

Schoonvelde SAC; Departments of Cardiology (S.A.C.S., M.M., A.H.), Clinical Genetics (C.W.B.R., J.M.A.V.), and Radiology and Nuclear Medicine (A.H.), Erasmus Medical Center, University Medical Center Rotterdam, Doctor Molewaterplein 40, Room Rg-419, 3015 GD Rotterdam, the Netherlands; Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, the Netherlands (D.M.E.I.H.); and Department of Cardiology, Albert Schweitzer Hospital, Dordrecht, the Netherlands (M.J.M.K.).; Ruijmbeek CWB; Departments of Cardiology (S.A.C.S., M.M., A.H.), Clinical Genetics (C.W.B.R., J.M.A.V.), and Radiology and Nuclear Medicine (A.H.), Erasmus Medical Center, University Medical Center Rotterdam, Doctor Molewaterplein 40, Room Rg-419, 3015 GD Rotterdam, the Netherlands; Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, the Netherlands (D.M.E.I.H.); and Department of Cardiology, Albert Schweitzer Hospital, Dordrecht, the Netherlands (M.J.M.K.).; Verhagen JMA; Departments of Cardiology (S.A.C.S., M.M., A.H.), Clinical Genetics (C.W.B.R., J.M.A.V.), and Radiology and Nuclear Medicine (A.H.), Erasmus Medical Center, University Medical Center Rotterdam, Doctor Molewaterplein 40, Room Rg-419, 3015 GD Rotterdam, the Netherlands; Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, the Netherlands (D.M.E.I.H.); and Department of Cardiology, Albert Schweitzer Hospital, Dordrecht, the Netherlands (M.J.M.K.).; Hellebrekers DMEI; Departments of Cardiology (S.A.C.S., M.M., A.H.), Clinical Genetics (C.W.B.R., J.M.A.V.), and Radiology and Nuclear Medicine (A.H.), Erasmus Medical Center, University Medical Center Rotterdam, Doctor Molewaterplein 40, Room Rg-419, 3015 GD Rotterdam, the Netherlands; Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, the Netherlands (D.M.E.I.H.); and Department of Cardiology, Albert Schweitzer Hospital, Dordrecht, the Netherlands (M.J.M.K.).; Kofflard MJM; Departments of Cardiology (S.A.C.S., M.M., A.H.), Clinical Genetics (C.W.B.R., J.M.A.V.), and Radiology and Nuclear Medicine (A.H.), Erasmus Medical Center, University Medical Center Rotterdam, Doctor Molewaterplein 40, Room Rg-419, 3015 GD Rotterdam, the Netherlands; Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, the Netherlands (D.M.E.I.H.); and Department of Cardiology, Albert Schweitzer Hospital, Dordrecht, the Netherlands (M.J.M.K.).; Michels M; Departments of Cardiology (S.A.C.S., M.M., A.H.), Clinical Genetics (C.W.B.R., J.M.A.V.), and Radiology and Nuclear Medicine (A.H.), Erasmus Medical Center, University Medical Center Rotterdam, Doctor Molewaterplein 40, Room Rg-419, 3015 GD Rotterdam, the Netherlands; Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, the Netherlands (D.M.E.I.H.); and Department of Cardiology, Albert Schweitzer Hospital, Dordrecht, the Netherlands (M.J.M.K.).; Hirsch A; Departments of Cardiology (S.A.C.S., M.M., A.H.), Clinical Genetics (C.W.B.R., J.M.A.V.), and Radiology and Nuclear Medicine (A.H.), Erasmus Medical Center, University Medical Center Rotterdam, Doctor Molewaterplein 40, Room Rg-419, 3015 GD Rotterdam, the Netherlands; Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, the Netherlands (D.M.E.I.H.); and Department of Cardiology, Albert Schweitzer Hospital, Dordrecht, the Netherlands (M.J.M.K.).

Publisher: Radiological Society of North America, Inc Country of Publication: United States NLM ID: 101748663 Publication Model: eCollection Cited Medium: Internet ISSN: 2638-6135 (Electronic) Linking ISSN: 26386135 NLM ISO Abbreviation: Radiol Cardiothorac Imaging Subsets: PubMed not MEDLINE

Stroeks SLVM; Cardiovascular Research Institute Maastricht (CARIM); S.L.V.M.S., T.H.M.H., A.G.R., M.A.S., E.A.V.J., S.R.B.H., J.A.J.V.), Maastricht University, Maastricht, Netherlands.; KU Leuven, Cardiovascular Sciences, Belgium (S.L.V.M.S., E.A.V.J., S.R.B.H.).; Lunde IG; Genetics, Harvard Medical School, Boston, MA (I.G.L., H.W., J.G.).; Diagnostics and Technology, Akershus University Hospital, Oslo, Norway (I.G.L.).; Hellebrekers DMEI; Clinical Genetics, Maastricht University Medical Center, the Netherlands (D.M.E.I.H., G.R.F.C., I.P.C.K., E.P.K., A.v.d.W., H.G.B., J.A.J.V.).; Claes GRF; Clinical Genetics, Maastricht University Medical Center, the Netherlands (D.M.E.I.H., G.R.F.C., I.P.C.K., E.P.K., A.v.d.W., H.G.B., J.A.J.V.).; Wakimoto H; Genetics, Harvard Medical School, Boston, MA (I.G.L., H.W., J.G.).; Gorham J; Genetics, Harvard Medical School, Boston, MA (I.G.L., H.W., J.G.).; Krapels IPC; Clinical Genetics, Maastricht University Medical Center, the Netherlands (D.M.E.I.H., G.R.F.C., I.P.C.K., E.P.K., A.v.d.W., H.G.B., J.A.J.V.).; Vanhoutte EK; van den Wijngaard A; Clinical Genetics, Maastricht University Medical Center, the Netherlands (D.M.E.I.H., G.R.F.C., I.P.C.K., E.P.K., A.v.d.W., H.G.B., J.A.J.V.).; Henkens MTHM; Raafs AG; Cardiovascular Research Institute Maastricht (CARIM); S.L.V.M.S., T.H.M.H., A.G.R., M.A.S., E.A.V.J., S.R.B.H., J.A.J.V.), Maastricht University, Maastricht, Netherlands.; Sikking MA; Cardiovascular Research Institute Maastricht (CARIM); S.L.V.M.S., T.H.M.H., A.G.R., M.A.S., E.A.V.J., S.R.B.H., J.A.J.V.), Maastricht University, Maastricht, Netherlands.; Broers JLV; Genetics and Cell Biology (J.L.V.B., M.N.), Maastricht University, Maastricht, Netherlands.; Nabben M; Genetics and Cell Biology (J.L.V.B., M.N.), Maastricht University, Maastricht, Netherlands.; Jones EAV; Cardiovascular Research Institute Maastricht (CARIM); S.L.V.M.S., T.H.M.H., A.G.R., M.A.S., E.A.V.J., S.R.B.H., J.A.J.V.), Maastricht University, Maastricht, Netherlands.; KU Leuven, Cardiovascular Sciences, Belgium (S.L.V.M.S., E.A.V.J., S.R.B.H.).; Heymans SRB; KU Leuven, Cardiovascular Sciences, Belgium (S.L.V.M.S., E.A.V.J., S.R.B.H.).; Brunner HG; Clinical Genetics, Maastricht University Medical Center, the Netherlands (D.M.E.I.H., G.R.F.C., I.P.C.K., E.P.K., A.v.d.W., H.G.B., J.A.J.V.).; Radboud University Medical Center, Human Genetics, Nijmegen, the Netherlands (H.G.B.).; Verdonschot JAJ; Cardiovascular Research Institute Maastricht (CARIM); S.L.V.M.S., T.H.M.H., A.G.R., M.A.S., E.A.V.J., S.R.B.H., J.A.J.V.), Maastricht University, Maastricht, Netherlands.; Clinical Genetics, Maastricht University Medical Center, the Netherlands (D.M.E.I.H., G.R.F.C., I.P.C.K., E.P.K., A.v.d.W., H.G.B., J.A.J.V.).

Publisher: Lippincott Williams & Wilkins Country of Publication: United States NLM ID: 101714113 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2574-8300 (Electronic) Linking ISSN: 25748300 NLM ISO Abbreviation: Circ Genom Precis Med Subsets: MEDLINE

Theunissen, T E J; Szklarczyk, R; Gerards, M; Hellebrekers, DMEI; den Hartog, NM (Elvira); Vanoevelen, J; Kamps, R; de Koning, B; Rutledge, S L; Schmitt-Mechelke, T; van Berkel, CGM; van der Knaap, MS; Coo, IFM; Smeets, HJM

Theunissen , T E J , Szklarczyk , R , Gerards , M , Hellebrekers , DMEI , den Hartog , NM , Vanoevelen , J , Kamps , R , de Koning , B , Rutledge , S L , Schmitt-Mechelke , T , van Berkel , CGM , van der Knaap , MS , Coo , IFM & Smeets , HJM 2016 , ' Specific MRI Abnormalities Reveal Severe Perrault Syndrome due to CLPP Defects ' , Frontiers in Neurology , vol. 7 , 203 .

Vanoevelen JM; Department of Clinical Genetics, Maastricht University Medical Centre+, 6229 ER, Maastricht, The Netherlands. j.vanoevelen@maastrichtuniversity.nl.; GROW-School for Oncology and Developmental Biology, 6229 ER, Maastricht, The Netherlands. j.vanoevelen@maastrichtuniversity.nl.; Bierau J; Department of Clinical Genetics, Maastricht University Medical Centre+, 6229 ER, Maastricht, The Netherlands.; Grashorn JC; Department of Clinical Genetics, Maastricht University Medical Centre+, 6229 ER, Maastricht, The Netherlands.; Lambrichs E; Department of Clinical Genetics, Maastricht University Medical Centre+, 6229 ER, Maastricht, The Netherlands.; Kamsteeg EJ; Department of Human Genetics, Radboud UMC, 6525 GA, Nijmegen, The Netherlands.; Bok LA; Department of Pediatrics, Màxima Medical Center, 5504 DB, Veldhoven, The Netherlands.; Wevers RA; Translational Metabolic Laboratory, Radboud UMC, 6525 GA, Nijmegen, The Netherlands.; van der Knaap MS; Department of Child Neurology, VUMC, 1105 AZ, Amsterdam, The Netherlands.; Bugiani M; Department of Neuropathology, VUMC, 1105 AZ, Amsterdam, The Netherlands.; Frisk JH; Department of Anatomy, Physiology and Biochemistry, Swedish University of Agricultural Sciences, 75007, Uppsala, Sweden.; Colnaghi R; Genome Damage and Stability Centre, University of Sussex, Brighton, BN1 9RH, UK.; O'Driscoll M; Genome Damage and Stability Centre, University of Sussex, Brighton, BN1 9RH, UK.; Hellebrekers DMEI; Department of Clinical Genetics, Maastricht University Medical Centre+, 6229 ER, Maastricht, The Netherlands.; Rodenburg R; Translational Metabolic Laboratory, Radboud UMC, 6525 GA, Nijmegen, The Netherlands.; Ferreira CR; National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, 20892, USA.; Brunner HG; Department of Clinical Genetics, Maastricht University Medical Centre+, 6229 ER, Maastricht, The Netherlands.; Department of Human Genetics, Radboud UMC, 6525 GA, Nijmegen, The Netherlands.; GROW-School for Oncology and Developmental Biology, 6229 ER, Maastricht, The Netherlands.; MHENS School of Neuroscience, 6229 ER, Maastricht, The Netherlands.; Donders Institute of Neuroscience, Radboud UMC, 6525 GA, Nijmegen, The Netherlands.; van den Wijngaard A; Department of Clinical Genetics, Maastricht University Medical Centre+, 6229 ER, Maastricht, The Netherlands.; Abdel-Salam GMH; Department of Clinical Genetics, Human Genetics and Genome Research Division, National Research Centre, Cairo, 12311, Egypt.; Wang L; Department of Anatomy, Physiology and Biochemistry, Swedish University of Agricultural Sciences, 75007, Uppsala, Sweden.; Stumpel CTRM; Department of Clinical Genetics, Maastricht University Medical Centre+, 6229 ER, Maastricht, The Netherlands. c.stumpel@mumc.nl.

Publisher: Springer Verlag Country of Publication: Germany NLM ID: 0412041 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1432-0533 (Electronic) Linking ISSN: 00016322 NLM ISO Abbreviation: Acta Neuropathol Subsets: MEDLINE

Guo L; School for Mental Health and Neuroscience (MHeNS), Maastricht University, Maastricht, the Netherlands.; Department of Toxicogenomics, Clinical Genomics Unit, Maastricht University, Maastricht, the Netherlands.; Engelen BPH; Maastricht Center for Systems Biology (MacsBio), Maastricht University, Maastricht, the Netherlands.; Hemel IMGM; Maastricht Center for Systems Biology (MacsBio), Maastricht University, Maastricht, the Netherlands.; de Coo IFM; School for Mental Health and Neuroscience (MHeNS), Maastricht University, Maastricht, the Netherlands.; Department of Toxicogenomics, Clinical Genomics Unit, Maastricht University, Maastricht, the Netherlands.; Vreeburg M; Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, the Netherlands.; Sallevelt SCEH; Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, the Netherlands.; Hellebrekers DMEI; Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, the Netherlands.; Jacobs EH; Department of Clinical Genetics, Erasmus University Medical Center, Rotterdam, the Netherlands.; Sadeghi-Niaraki F; Department of Clinical Genetics, Erasmus University Medical Center, Rotterdam, the Netherlands.; van Tienen FHJ; School for Mental Health and Neuroscience (MHeNS), Maastricht University, Maastricht, the Netherlands.; Department of Toxicogenomics, Clinical Genomics Unit, Maastricht University, Maastricht, the Netherlands.; Smeets HJM; School for Mental Health and Neuroscience (MHeNS), Maastricht University, Maastricht, the Netherlands. bert.smeets@maastrichtuniversity.nl.; Department of Toxicogenomics, Clinical Genomics Unit, Maastricht University, Maastricht, the Netherlands. bert.smeets@maastrichtuniversity.nl.; School for Oncology and Developmental Biology (GROW), Maastricht University, Maastricht, the Netherlands. bert.smeets@maastrichtuniversity.nl.; Gerards M; Maastricht Center for Systems Biology (MacsBio), Maastricht University, Maastricht, the Netherlands.

Publisher: Nature Publishing Group Country of Publication: England NLM ID: 9302235 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1476-5438 (Electronic) Linking ISSN: 10184813 NLM ISO Abbreviation: Eur J Hum Genet Subsets: MEDLINE

Stroeks SLVM; Department of Cardiology, Maastricht University Medical Center, Maastricht, The Netherlands.; Hellebrekers DMEI; Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, The Netherlands.; Claes GRF; Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, The Netherlands.; Tayal U; National Heart Lung Institute, Imperial College London, London, United Kingdom.; Royal Brompton and Harefield NHS Foundation Trust, London, United Kingdom.; Krapels IPC; Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, The Netherlands.; Vanhoutte EK; Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, The Netherlands.; van den Wijngaard A; Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, The Netherlands.; Henkens MTHM; Department of Cardiology, Maastricht University Medical Center, Maastricht, The Netherlands.; Ware JS; National Heart Lung Institute, Imperial College London, London, United Kingdom.; Royal Brompton and Harefield NHS Foundation Trust, London, United Kingdom.; Medical Research Council London Institute of Medical Sciences, Imperial College London, London, United Kingdom.; Heymans SRB; Department of Cardiology, Maastricht University Medical Center, Maastricht, The Netherlands.; Centre for Molecular and Vascular Biology, Department of Cardiovascular Sciences, KU Leuven, Leuven, Belgium.; Brunner HG; Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, The Netherlands.; GROW Institute for Developmental Biology and Cancer, Maastricht University, Maastricht, The Netherlands.; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.; Verdonschot JAJ; Department of Cardiology, Maastricht University Medical Center, Maastricht, The Netherlands. job.verdonschot@mumc.nl.; Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, The Netherlands. job.verdonschot@mumc.nl.

Publisher: Elsevier Country of Publication: United States NLM ID: 9815831 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1530-0366 (Electronic) Linking ISSN: 10983600 NLM ISO Abbreviation: Genet Med Subsets: MEDLINE