부산대학교 도서관

Lahrouchi N; Amsterdam UMC, University of Amsterdam, Heart Center, Department of Clinical and Experimental Cardiology, Amsterdam Cardiovascular Sciences.; Postma AV; Department of Clinical Genetics, and.; Department of Medical Biology, Amsterdam UMC, Amsterdam, Netherlands.; Salazar CM; Department of Pharmacological Sciences and Graduate Program in Molecular and Cellular Pharmacology, Stony Brook University, Stony Brook, New York, USA.; De Laughter DM; Department of Cell and Developmental Biology, Vanderbilt University School of Medicine, Nashville, Tennessee, USA.; Tjong F; Amsterdam UMC, University of Amsterdam, Heart Center, Department of Clinical and Experimental Cardiology, Amsterdam Cardiovascular Sciences.; Piherová L; Research Unit for Rare Diseases, Department of Pediatrics and Adolescent Medicine, 1st Faculty of Medicine, Charles University and General University Hospital, Prague, Czech Republic.; Bowling FZ; Department of Biochemistry and Cell Biology, Stony Brook University, Stony Brook, New York, USA.; Zimmerman D; Amsterdam UMC, University of Amsterdam, Heart Center, Department of Clinical and Experimental Cardiology, Amsterdam Cardiovascular Sciences.; Lodder EM; Amsterdam UMC, University of Amsterdam, Heart Center, Department of Clinical and Experimental Cardiology, Amsterdam Cardiovascular Sciences.; Ta-Shma A; Department of Pediatric Cardiology, Hadassah, Hebrew University Medical Center, Jerusalem, Israel.; Perles Z; Department of Pediatric Cardiology, Hadassah, Hebrew University Medical Center, Jerusalem, Israel.; Beekman L; Amsterdam UMC, University of Amsterdam, Heart Center, Department of Clinical and Experimental Cardiology, Amsterdam Cardiovascular Sciences.; Ilgun A; Department of Medical Biology, Amsterdam UMC, Amsterdam, Netherlands.; Gunst Q; Department of Medical Biology, Amsterdam UMC, Amsterdam, Netherlands.; Hababa M; Amsterdam UMC, University of Amsterdam, Heart Center, Department of Clinical and Experimental Cardiology, Amsterdam Cardiovascular Sciences.; Škorić-Milosavljević D; Amsterdam UMC, University of Amsterdam, Heart Center, Department of Clinical and Experimental Cardiology, Amsterdam Cardiovascular Sciences.; Stránecký V; Research Unit for Rare Diseases, Department of Pediatrics and Adolescent Medicine, 1st Faculty of Medicine, Charles University and General University Hospital, Prague, Czech Republic.; Tomek V; Children's Heart Centre, 2nd Faculty of Medicine, Charles University in Prague, Motol University Hospital, Prague, Czech Republic.; de Knijff P; Department of Human Genetics, Leiden University Medical Centre, Leiden, Netherlands.; de Leeuw R; Department of Human Genetics, Leiden University Medical Centre, Leiden, Netherlands.; Robinson JY; Department of Pharmacology, Vanderbilt University School of Medicine, Nashville, Tennessee, USA.; Burn SC; Department of Obstetrics, Gynecology and Women's Health.; Mustafa H; Department of Obstetrics, Gynecology and Women's Health.; Ambrose M; Department of Pediatrics, Division of Pediatric Cardiology, and.; Moss T; Department of Pediatrics, University of Minnesota, Minneapolis, Minnesota, USA.; Jacober J; Department of Pediatrics, Ochsner Clinic, Tulane University, University of Queensland, New Orleans, Louisiana, USA.; Niyazov DM; Department of Pediatrics, Ochsner Clinic, Tulane University, University of Queensland, New Orleans, Louisiana, USA.; Wolf B; Division of Genetics, Birth Defects and Metabolic Disorders, Ann and Robert H. Lurie Children's Hospital of Chicago, Chicago, Illinois, USA.; Feinberg School of Medicine, Northwestern University, Chicago, Illinois, USA.; Kim KH; Division of Genetics, Birth Defects and Metabolic Disorders, Ann and Robert H. Lurie Children's Hospital of Chicago, Chicago, Illinois, USA.; Feinberg School of Medicine, Northwestern University, Chicago, Illinois, USA.; Cherny S; Feinberg School of Medicine, Northwestern University, Chicago, Illinois, USA.; Division of Cardiology, Ann and Robert H. Lurie Children's Hospital of Chicago, Chicago, Illinois, USA.; Rousounides A; Makarios Medical Centre, Nicosia, Cyprus.; Aristidou-Kallika A; Ultrasound and Fetal Medicine Diagnostic Centre, Nicosia, Cyprus.; Tanteles G; Cyprus School of Molecular Medicine, Nicosia, Cyprus.; Department of Clinical Genetics, The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus.; Ange-Line B; UMR 1231 INSERM, GAD, Université Bourgogne Franche-Comté, Dijon, France.; Unité Fonctionnelle d'Innovation en Diagnostique Génomique des Maladies Rares, FHU-TRANSLAD, Centre Hospitalier Universitaire Estaing (CHU), Dijon Bourgogne, Dijon, France.; Denommé-Pichon AS; UMR 1231 INSERM, GAD, Université Bourgogne Franche-Comté, Dijon, France.; Unité Fonctionnelle d'Innovation en Diagnostique Génomique des Maladies Rares, FHU-TRANSLAD, Centre Hospitalier Universitaire Estaing (CHU), Dijon Bourgogne, Dijon, France.; Francannet C; Service de Génétique Médicale, CHU Estaing, Clermont-Ferrand, France.; Ortiz D; Medical Genetics Department, UPMC Children's Hospital of Pittsburgh, Pittsburgh, Pennsylvania, USA.; Haak MC; Department of Obstetrics and.; Ten Harkel AD; Department of Pediatric Cardiology, Leiden University Medical Centre, Leiden, Netherlands.; Manten GT; Department of Obstetrics and.; Dutman AC; Department of Pathology, Isala Women and Children's Hospital, Zwolle, Netherlands.; Bouman K; University Medical Center Groningen, Department of Genetics, University of Groningen, Groningen, Netherlands.; Magliozzi M; Genetic and Rare Disease Research Division, Bambino Gesù Children's Hospital IRCCS, Rome, Italy.; Radio FC; Genetic and Rare Disease Research Division, Bambino Gesù Children's Hospital IRCCS, Rome, Italy.; Santen GW; Department of Human Genetics, Leiden University Medical Center, Leiden, Netherlands.; Herkert JC; University Medical Center Groningen, Department of Genetics, University of Groningen, Groningen, Netherlands.; Brown HA; Department of Pharmacology, Vanderbilt University School of Medicine, Nashville, Tennessee, USA.; Elpeleg O; Department of Genetics, Hadassah, Hebrew University Medical Center, Jerusalem, Israel.; van den Hoff MJ; Department of Medical Biology, Amsterdam UMC, Amsterdam, Netherlands.; Mulder B; Amsterdam UMC, University of Amsterdam, Heart Center, Department of Clinical and Experimental Cardiology, Amsterdam Cardiovascular Sciences.; Airola MV; Department of Biochemistry and Cell Biology, Stony Brook University, Stony Brook, New York, USA.; Kmoch S; Research Unit for Rare Diseases, Department of Pediatrics and Adolescent Medicine, 1st Faculty of Medicine, Charles University and General University Hospital, Prague, Czech Republic.; Barnett JV; Department of Pharmacology, Vanderbilt University School of Medicine, Nashville, Tennessee, USA.; Clur SA; Department of Pediatric Cardiology, Emma Children's Hospital, Amsterdam UMC, University of Amsterdam, Amsterdam, Netherlands.; Frohman MA; Department of Pharmacological Sciences and Graduate Program in Molecular and Cellular Pharmacology, Stony Brook University, Stony Brook, New York, USA.; Bezzina CR; Amsterdam UMC, University of Amsterdam, Heart Center, Department of Clinical and Experimental Cardiology, Amsterdam Cardiovascular Sciences.

Publisher: American Society for Clinical Investigation Country of Publication: United States NLM ID: 7802877 Publication Model: Print Cited Medium: Internet ISSN: 1558-8238 (Electronic) Linking ISSN: 00219738 NLM ISO Abbreviation: J Clin Invest Subsets: MEDLINE

Krekels EH; van den Anker JN; Baiardi P; Cella M; Cheng KY; Gibb DM; Green H; IOLASCON, ACHILLE; Jacqz Aigrain EM; Knibbe CA; Santen GW; van Schaik RH; Tibboel D; Della Pasqua O.E.

Expert Opinion on Pharmacotherapy. 8:1787-1799

Elhaji Y; Division of Clinical Dermatology & Cutaneous Science, Department of Medicine, Dalhousie University, Halifax, Nova Scotia, Canada.; van Henten TMA; Department of Dermatology, Haaglanden Medical Center, The Hague, The Netherlands.; Ruivenkamp CAL; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.; Nightingale M; Genomics Core facility, Dalhousie University, Halifax, Nova Scotia, Canada.; Santen GW; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.; Vos LE; Department of Dermatology, Haaglanden Medical Center, The Hague, The Netherlands.; Hull PR; Division of Clinical Dermatology & Cutaneous Science, Department of Medicine, Dalhousie University, Halifax, Nova Scotia, Canada.

Publisher: Elsevier B.V. on behalf of the Society for Investigative Dermatology Country of Publication: Netherlands NLM ID: 101776173 Publication Model: eCollection Cited Medium: Internet ISSN: 2667-0267 (Electronic) Linking ISSN: 26670267 NLM ISO Abbreviation: JID Innov Subsets: PubMed not MEDLINE

Khan S; Department of Biotechnology and Genetic Engineering, Kohat University of Science and Technology (KUST), Kohat, Khyber Pakhtunkhwa, Pakistan.; Ullah I; Department of Biochemistry, Faculty of Biological Sciences, Quaid-i-Azam University, Islamabad, Pakistan.; Nasir A; Department of Biochemistry, Faculty of Biological Sciences, Quaid-i-Azam University, Islamabad, Pakistan.; Meijer CA; Department of Radiology, MC Haaglanden, The Hague, The Netherlands.; Laurense-Bik M; Department of Clinical Genetics, Leiden University Medical Center (LUMC), Leiden, The Netherlands.; den Dunnen JT; Department of Clinical Genetics, Leiden University Medical Center (LUMC), Leiden, The Netherlands.; Ruivenkamp CA; Department of Clinical Genetics, Leiden University Medical Center (LUMC), Leiden, The Netherlands.; Hoffer MJ; Department of Clinical Genetics, Leiden University Medical Center (LUMC), Leiden, The Netherlands.; Santen GW; Department of Clinical Genetics, Leiden University Medical Center (LUMC), Leiden, The Netherlands.; Ahmad W; Department of Biochemistry, Faculty of Biological Sciences, Quaid-i-Azam University, Islamabad, Pakistan.

Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4833 (Electronic) Linking ISSN: 15524825 NLM ISO Abbreviation: Am J Med Genet A Subsets: MEDLINE

Santen GW; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.

Publisher: Wiley-Liss Country of Publication: United States NLM ID: 9215429 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1098-1004 (Electronic) Linking ISSN: 10597794 NLM ISO Abbreviation: Hum Mutat Subsets: MEDLINE

Tan RN; Department of Pediatrics, Leiden University Medical Center, Leiden, the Netherlands.; Witlox RS; Department of Pediatrics, Leiden University Medical Center, Leiden, the Netherlands.; Hilhorst-Hofstee Y; Department of Clinical Genetics, Leiden University Medical Center, Leiden, the Netherlands.; Peeters-Scholte CM; Department of Neurology, Leiden University Medical Center, Leiden, the Netherlands.; den Hollander NS; Department of Clinical Genetics, Leiden University Medical Center, Leiden, the Netherlands.; Ruivenkamp CA; Department of Clinical Genetics, Leiden University Medical Center, Leiden, the Netherlands.; Hoffer MJ; Department of Clinical Genetics, Leiden University Medical Center, Leiden, the Netherlands.; Hansson KB; Department of Clinical Genetics, Leiden University Medical Center, Leiden, the Netherlands.; van Roosmalen MJ; Center for Molecular Medicine, Department of Medical Genetics, University Medical Center Utrecht, Utrecht, the Netherlands.; Kloosterman WP; Center for Molecular Medicine, Department of Medical Genetics, University Medical Center Utrecht, Utrecht, the Netherlands.; Santen GW; Department of Clinical Genetics, Leiden University Medical Center, Leiden, the Netherlands.

Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4833 (Electronic) Linking ISSN: 15524825 NLM ISO Abbreviation: Am J Med Genet A Subsets: MEDLINE

Kant SG; Department of Clinical GeneticsLeiden University Medical Center, PO Box 9600, 2300RC, Leiden, The NetherlandsDepartment of BiologyFaculty of MedicineCentral European Institute of TechnologyMasaryk University, Brno, Czech RepublicDepartment of PediatricsLeiden University Medical Center, Leiden, The NetherlandsDepartment of Internal MedicineErasmus Medical Center, Rotterdam, The NetherlandsDepartment of Orthopaedic SurgeryDavid Geffen School of Medicine at UCLA, Los Angeles, California, USA s.g.kant@lumc.nl.; Cervenkova I; Department of Clinical GeneticsLeiden University Medical Center, PO Box 9600, 2300RC, Leiden, The NetherlandsDepartment of BiologyFaculty of MedicineCentral European Institute of TechnologyMasaryk University, Brno, Czech RepublicDepartment of PediatricsLeiden University Medical Center, Leiden, The NetherlandsDepartment of Internal MedicineErasmus Medical Center, Rotterdam, The NetherlandsDepartment of Orthopaedic SurgeryDavid Geffen School of Medicine at UCLA, Los Angeles, California, USA.; Balek L; Department of Clinical GeneticsLeiden University Medical Center, PO Box 9600, 2300RC, Leiden, The NetherlandsDepartment of BiologyFaculty of MedicineCentral European Institute of TechnologyMasaryk University, Brno, Czech RepublicDepartment of PediatricsLeiden University Medical Center, Leiden, The NetherlandsDepartment of Internal MedicineErasmus Medical Center, Rotterdam, The NetherlandsDepartment of Orthopaedic SurgeryDavid Geffen School of Medicine at UCLA, Los Angeles, California, USA.; Trantirek L; Department of Clinical GeneticsLeiden University Medical Center, PO Box 9600, 2300RC, Leiden, The NetherlandsDepartment of BiologyFaculty of MedicineCentral European Institute of TechnologyMasaryk University, Brno, Czech RepublicDepartment of PediatricsLeiden University Medical Center, Leiden, The NetherlandsDepartment of Internal MedicineErasmus Medical Center, Rotterdam, The NetherlandsDepartment of Orthopaedic SurgeryDavid Geffen School of Medicine at UCLA, Los Angeles, California, USA.; Santen GW; Department of Clinical GeneticsLeiden University Medical Center, PO Box 9600, 2300RC, Leiden, The NetherlandsDepartment of BiologyFaculty of MedicineCentral European Institute of TechnologyMasaryk University, Brno, Czech RepublicDepartment of PediatricsLeiden University Medical Center, Leiden, The NetherlandsDepartment of Internal MedicineErasmus Medical Center, Rotterdam, The NetherlandsDepartment of Orthopaedic SurgeryDavid Geffen School of Medicine at UCLA, Los Angeles, California, USA.; de Vries MC; Department of Clinical GeneticsLeiden University Medical Center, PO Box 9600, 2300RC, Leiden, The NetherlandsDepartment of BiologyFaculty of MedicineCentral European Institute of TechnologyMasaryk University, Brno, Czech RepublicDepartment of PediatricsLeiden University Medical Center, Leiden, The NetherlandsDepartment of Internal MedicineErasmus Medical Center, Rotterdam, The NetherlandsDepartment of Orthopaedic SurgeryDavid Geffen School of Medicine at UCLA, Los Angeles, California, USA.; van Duyvenvoorde HA; Department of Clinical GeneticsLeiden University Medical Center, PO Box 9600, 2300RC, Leiden, The NetherlandsDepartment of BiologyFaculty of MedicineCentral European Institute of TechnologyMasaryk University, Brno, Czech RepublicDepartment of PediatricsLeiden University Medical Center, Leiden, The NetherlandsDepartment of Internal MedicineErasmus Medical Center, Rotterdam, The NetherlandsDepartment of Orthopaedic SurgeryDavid Geffen School of Medicine at UCLA, Los Angeles, California, USA.; van der Wielen MJ; Department of Clinical GeneticsLeiden University Medical Center, PO Box 9600, 2300RC, Leiden, The NetherlandsDepartment of BiologyFaculty of MedicineCentral European Institute of TechnologyMasaryk University, Brno, Czech RepublicDepartment of PediatricsLeiden University Medical Center, Leiden, The NetherlandsDepartment of Internal MedicineErasmus Medical Center, Rotterdam, The NetherlandsDepartment of Orthopaedic SurgeryDavid Geffen School of Medicine at UCLA, Los Angeles, California, USA.; Verkerk AJ; Department of Clinical GeneticsLeiden University Medical Center, PO Box 9600, 2300RC, Leiden, The NetherlandsDepartment of BiologyFaculty of MedicineCentral European Institute of TechnologyMasaryk University, Brno, Czech RepublicDepartment of PediatricsLeiden University Medical Center, Leiden, The NetherlandsDepartment of Internal MedicineErasmus Medical Center, Rotterdam, The NetherlandsDepartment of Orthopaedic SurgeryDavid Geffen School of Medicine at UCLA, Los Angeles, California, USA.; Uitterlinden AG; Department of Clinical GeneticsLeiden University Medical Center, PO Box 9600, 2300RC, Leiden, The NetherlandsDepartment of BiologyFaculty of MedicineCentral European Institute of TechnologyMasaryk University, Brno, Czech RepublicDepartment of PediatricsLeiden University Medical Center, Leiden, The NetherlandsDepartment of Internal MedicineErasmus Medical Center, Rotterdam, The NetherlandsDepartment of Orthopaedic SurgeryDavid Geffen School of Medicine at UCLA, Los Angeles, California, USA.; Hannema SE; Department of Clinical GeneticsLeiden University Medical Center, PO Box 9600, 2300RC, Leiden, The NetherlandsDepartment of BiologyFaculty of MedicineCentral European Institute of TechnologyMasaryk University, Brno, Czech RepublicDepartment of PediatricsLeiden University Medical Center, Leiden, The NetherlandsDepartment of Internal MedicineErasmus Medical Center, Rotterdam, The NetherlandsDepartment of Orthopaedic SurgeryDavid Geffen School of Medicine at UCLA, Los Angeles, California, USA.; Wit JM; Department of Clinical GeneticsLeiden University Medical Center, PO Box 9600, 2300RC, Leiden, The NetherlandsDepartment of BiologyFaculty of MedicineCentral European Institute of TechnologyMasaryk University, Brno, Czech RepublicDepartment of PediatricsLeiden University Medical Center, Leiden, The NetherlandsDepartment of Internal MedicineErasmus Medical Center, Rotterdam, The NetherlandsDepartment of Orthopaedic SurgeryDavid Geffen School of Medicine at UCLA, Los Angeles, California, USA.; Oostdijk W; Department of Clinical GeneticsLeiden University Medical Center, PO Box 9600, 2300RC, Leiden, The NetherlandsDepartment of BiologyFaculty of MedicineCentral European Institute of TechnologyMasaryk University, Brno, Czech RepublicDepartment of PediatricsLeiden University Medical Center, Leiden, The NetherlandsDepartment of Internal MedicineErasmus Medical Center, Rotterdam, The NetherlandsDepartment of Orthopaedic SurgeryDavid Geffen School of Medicine at UCLA, Los Angeles, California, USA.; Krejci P; Department of Clinical GeneticsLeiden University Medical Center, PO Box 9600, 2300RC, Leiden, The NetherlandsDepartment of BiologyFaculty of MedicineCentral European Institute of TechnologyMasaryk University, Brno, Czech RepublicDepartment of PediatricsLeiden University Medical Center, Leiden, The NetherlandsDepartment of Internal MedicineErasmus Medical Center, Rotterdam, The NetherlandsDepartment of Orthopaedic SurgeryDavid Geffen School of Medicine at UCLA, Los Angeles, California, USA Department of Clinical GeneticsLeiden University Medical Center, PO Box 9600, 2300RC, Leiden, The NetherlandsDepartment of BiologyFaculty of MedicineCentral European Institute of TechnologyMasaryk University, Brno, Czech RepublicDepartment of PediatricsLeiden University Medical Center, Leiden, The NetherlandsDepartment of Internal MedicineErasmus Medical Center, Rotterdam, The NetherlandsDepartment of Orthopaedic SurgeryDavid Geffen School of Medicine at UCLA, Los Angeles, California, USA.; Losekoot M; Department of Clinical GeneticsLeiden University Medical Center, PO Box 9600, 2300RC, Leiden, The NetherlandsDepartment of BiologyFaculty of MedicineCentral European Institute of TechnologyMasaryk University, Brno, Czech RepublicDepartment of PediatricsLeiden University Medical Center, Leiden, The NetherlandsDepartment of Internal MedicineErasmus Medical Center, Rotterdam, The NetherlandsDepartment of Orthopaedic SurgeryDavid Geffen School of Medicine at UCLA, Los Angeles, California, USA.

Publisher: Oxford University Press Country of Publication: England NLM ID: 9423848 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1479-683X (Electronic) Linking ISSN: 08044643 NLM ISO Abbreviation: Eur J Endocrinol Subsets: MEDLINE

Sun Y; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.; Ruivenkamp CA; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.; Hoffer MJ; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.; Vrijenhoek T; Centre for Genome Diagnostics, Department of Medical Genetics, Universitair Medisch Centrum Utrecht, Utrecht, The Netherlands.; Kriek M; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.; van Asperen CJ; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.; den Dunnen JT; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.; Santen GW; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.

Publisher: Wiley-Liss Country of Publication: United States NLM ID: 9215429 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1098-1004 (Electronic) Linking ISSN: 10597794 NLM ISO Abbreviation: Hum Mutat Subsets: MEDLINE

Santen GW; Clayton-Smith J

Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235745 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4876 (Electronic) Linking ISSN: 15524868 NLM ISO Abbreviation: Am J Med Genet C Semin Med Genet Subsets: MEDLINE

Knibbe CA; Krekels EH; van den Anker JN; Dejongh J; Santen GW; van Dijk M; Simons SH; van Lingen RA; Jacqz-Aigrain EM; Danhof M; Tibboel D; Knibbe, Catherijne A J; Krekels, Elke H J; van den Anker, Johannes N; DeJongh, Joost; Santen, Gijs W E; van Dijk, Monique; Simons, Sinno H P; van Lingen, Richard A; Jacqz-Aigrain, Evelyne M; et al

Clinical Pharmacokinetics (CLIN PHARMACOKINET), 2009; 48(6): 371-385. (15p)

Logan CV; Szabadkai G; Sharpe JA; Parry DA; Torelli S; Childs AM; Kriek M; Phadke R; Johnson CA; Roberts NY; Bonthron DT; Pysden KA; Whyte T; Munteanu I; Foley AR; Wheway G; Szymanska K; Natarajan S; Abdelhamed ZA; Morgan JE; Roper H; Santen GW; Niks EH; van der Pol WL; Lindhout D; Raffaello A; De Stefani D; den Dunnen JT; Sun Y; Ginjaar I; Sewry CA; Hurles M; Rizzuto R; Duchen MR; Muntoni F; Sheridan E

Publisher: Nature Pub. Co Country of Publication: United States NLM ID: 9216904 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1546-1718 (Electronic) Linking ISSN: 10614036 NLM ISO Abbreviation: Nat Genet Subsets: MEDLINE

Santen GW; Center for Human and Clinical Genetics, Leiden University Medical Centre, Leiden, The Netherlands.; Aten E; Vulto-van Silfhout AT; Pottinger C; van Bon BW; van Minderhout IJ; Snowdowne R; van der Lans CA; Boogaard M; Linssen MM; Vijfhuizen L; van der Wielen MJ; Vollebregt MJ; Breuning MH; Kriek M; van Haeringen A; den Dunnen JT; Hoischen A; Clayton-Smith J; de Vries BB; Hennekam RC; van Belzen MJ

Publisher: Wiley-Liss Country of Publication: United States NLM ID: 9215429 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1098-1004 (Electronic) Linking ISSN: 10597794 NLM ISO Abbreviation: Hum Mutat Subsets: MEDLINE

Sun Y; Center for Human and Clinical Genetics, Leiden University Medical Center, The Netherlands.; Almomani R; Breedveld GJ; Santen GW; Aten E; Lefeber DJ; Hoff JI; Brusse E; Verheijen FW; Verdijk RM; Kriek M; Oostra B; Breuning MH; Losekoot M; den Dunnen JT; van de Warrenburg BP; Maat-Kievit AJ

Publisher: Wiley-Liss Country of Publication: United States NLM ID: 9215429 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1098-1004 (Electronic) Linking ISSN: 10597794 NLM ISO Abbreviation: Hum Mutat Subsets: MEDLINE

Almomani R; Center for Human and Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.; Sun Y; Aten E; Hilhorst-Hofstee Y; Peeters-Scholte CM; van Haeringen A; Hendriks YM; den Dunnen JT; Breuning MH; Kriek M; Santen GW

Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4833 (Electronic) Linking ISSN: 15524825 NLM ISO Abbreviation: Am J Med Genet A Subsets: MEDLINE

Aten E; Center for Human and Clinical Genetics, Leiden University Medical Center, Leiden, the Netherlands.; Sun Y; Almomani R; Santen GW; Messemaker T; Maas SM; Breuning MH; den Dunnen JT

Publisher: Wiley-Liss Country of Publication: United States NLM ID: 9215429 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1098-1004 (Electronic) Linking ISSN: 10597794 NLM ISO Abbreviation: Hum Mutat Subsets: MEDLINE

Lemmers RJ; Department of Human Genetics, Leiden University Medical Center, Leiden, The Netherlands.; Tawil R; Petek LM; Balog J; Block GJ; Santen GW; Amell AM; van der Vliet PJ; Almomani R; Straasheijm KR; Krom YD; Klooster R; Sun Y; den Dunnen JT; Helmer Q; Donlin-Smith CM; Padberg GW; van Engelen BG; de Greef JC; Aartsma-Rus AM; Frants RR; de Visser M; Desnuelle C; Sacconi S; Filippova GN; Bakker B; Bamshad MJ; Tapscott SJ; Miller DG; van der Maarel SM

Publisher: Nature Pub. Co Country of Publication: United States NLM ID: 9216904 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1546-1718 (Electronic) Linking ISSN: 10614036 NLM ISO Abbreviation: Nat Genet Subsets: MEDLINE

Santen GW; Center for Human and Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands. santen@lumc.nl; Kriek M; van Attikum H

Publisher: Taylor & Francis Country of Publication: United States NLM ID: 101265293 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1559-2308 (Electronic) Linking ISSN: 15592294 NLM ISO Abbreviation: Epigenetics Subsets: MEDLINE

Santen GW; Center for Human and Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands. santen@lumc.nl; Aten E; Sun Y; Almomani R; Gilissen C; Nielsen M; Kant SG; Snoeck IN; Peeters EA; Hilhorst-Hofstee Y; Wessels MW; den Hollander NS; Ruivenkamp CA; van Ommen GJ; Breuning MH; den Dunnen JT; van Haeringen A; Kriek M

Publisher: Nature Pub. Co Country of Publication: United States NLM ID: 9216904 Publication Model: Electronic Cited Medium: Internet ISSN: 1546-1718 (Electronic) Linking ISSN: 10614036 NLM ISO Abbreviation: Nat Genet Subsets: MEDLINE

Ivanovski I; Clinical Genetics Unit, Department of Obstetrics and Pediatrics, AUSL-IRCCS of Reggio Emilia, Reggio Emilia, Italy.; Department of Surgical, Medical, Dental, and Morphological Sciences with Interest in Transplant, Oncology and Regenerative Medicine, University of Modena and Reggio Emilia, Modena, Italy.; Djuric O; Clinical Genetics Unit, Department of Obstetrics and Pediatrics, AUSL-IRCCS of Reggio Emilia, Reggio Emilia, Italy.; Institute of Epidemiology, School of Medicine, University of Belgrade, Belgrade, Serbia.; Caraffi SG; Clinical Genetics Unit, Department of Obstetrics and Pediatrics, AUSL-IRCCS of Reggio Emilia, Reggio Emilia, Italy.; Santodirocco D; Clinical Genetics Unit, Department of Obstetrics and Pediatrics, AUSL-IRCCS of Reggio Emilia, Reggio Emilia, Italy.; Pollazzon M; Clinical Genetics Unit, Department of Obstetrics and Pediatrics, AUSL-IRCCS of Reggio Emilia, Reggio Emilia, Italy.; Rosato S; Clinical Genetics Unit, Department of Obstetrics and Pediatrics, AUSL-IRCCS of Reggio Emilia, Reggio Emilia, Italy.; Cordelli DM; Child Neurology and Psychiatry Unit, S Orsola Malpighi Hospital, University of Bologna, Bologna, Italy.; Abdalla E; Department of Human Genetics, Medical Research Institute, University of Alexandria, Alexandria, Egypt.; Accorsi P; Neuropsychiatric Department, Spedali Civili Brescia, Brescia, Italy.; Adam MP; Division of Genetic Medicine, University of Washington School of Medicine, Seattle, Washington, USA.; Ajmone PF; Child and Adolescent Neuropsychiatric Service (UONPIA) Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy.; Badura-Stronka M; Chair and Department of Medical Genetics, Poznan University of Medical Sciences, Poznań, Poland.; Baldo C; Laboratory of Human Genetics; Galliera Hospital, Genoa, Italy.; Baldi M; Clinical Genetics Unit, Department of Obstetrics and Pediatrics, AUSL-IRCCS of Reggio Emilia, Reggio Emilia, Italy.; Bayat A; Department of Pediatrics, University Hospital of Copenhagen/Hvidovre, Copenhagen, Denmark.; Department of Clinical Genetics, Rigshospitalet, University Hospital of Copenhagen, Copenhagen, Denmark.; Bigoni S; UOL of Medical Genetics, University Hospital of Ferrara, Ferrara, Italy.; Bonvicini F; Clinical Genetics Unit, Department of Obstetrics and Pediatrics, AUSL-IRCCS of Reggio Emilia, Reggio Emilia, Italy.; Pediatric Unit, Department of Medical and Surgical Sciences for Mothers, Children and Adults, University of Modena and Reggio Emilia, Modena, Italy.; Breckpot J; Center for Human Genetics, Catholic University of Leuven, Leuven, Belgium.; Callewaert B; Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium.; Cocchi G; Neonatology Unit, S. Orsola-Malpighi Hospital, University of Bologna, Bologna, Italy.; Cuturilo G; Faculty of Medicine, University of Belgrade, Belgrade, Serbia.; Department of Medical Genetics, University Children's Hospital, Belgrade, Serbia.; De Brasi D; Department of Pediatrics, AORN Santobono Pausilipon, Naples, Italy.; Devriendt K; Center for Human Genetics, Catholic University of Leuven, Leuven, Belgium.; Dinulos MB; Department of Pediatrics, Dartmouth-Hitchcock Medical Center, Lebanon, New Hampshire, USA.; Hjortshøj TD; Department of Clinical Genetics, Kennedy Center, Glostrup, Denmark.; Epifanio R; Clinical Neurophysiology Unit, IRCCS, E Medea Scientific Institute, Bosisio Parini, Lecco, Italy.; Faravelli F; Clinical Genetics, NE Thames Regional Genetics Service, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.; Fiumara A; Department of Clinical and Experimental Medicine, Regional Referral Center for Inborn Errors Metabolism, Pediatric Clinic, University of Catania, Catania, Italy.; Formisano D; Scientific Directorate, Arcispedale Santa Maria Nuova-IRCCS, Reggio Emilia, Italy.; Giordano L; Neuropsychiatric Department, Spedali Civili Brescia, Brescia, Italy.; Grasso M; Laboratory of Human Genetics; Galliera Hospital, Genoa, Italy.; Grønborg S; Center for Rare Diseases, Department of Clinical Genetics, University Hospital Copenhagen, Copenhagen, Denmark.; Iodice A; Neuropsychiatric Department, Arcispedale Santa Maria Nuova-IRCCS, Reggio Emilia, Italy.; Iughetti L; Pediatric Unit, Department of Medical and Surgical Sciences for Mothers, Children and Adults, University of Modena and Reggio Emilia, Modena, Italy.; Kuburovic V; Department of Cardiology, Mother and Child Health Care Institute, Belgrade, Serbia.; Kutkowska-Kazmierczak A; Department of Medical Genetics, Institute of the Mother and Child, Warsaw, Poland.; Lacombe D; CHU de Bordeaux, Service de Génétique Médicale, Bordeaux, France.; INSERM U1211, Univ. Bordeaux, Bordeaux, France.; Lo Rizzo C; Medical Genetics, University of Siena, Siena, Italy.; Luchetti A; Child Neuropsychiatry Unit, Faculty of Medicine and Psychology, Sapienza University, Rome, Italy.; Malbora B; Department of Pediatric Hematology & Oncology, Tepecik Training and Research Hospital, Izmir, Turkey.; Mammi I; Medical Genetics Unit, Dolo Hospital, Venice, Italy.; Mari F; Medical Genetics, University of Siena, Siena, Italy.; Montorsi G; Clinical Genetics Unit, Department of Obstetrics and Pediatrics, AUSL-IRCCS of Reggio Emilia, Reggio Emilia, Italy.; Faculty of Medicine, University of Modena and Reggio Emilia, Modena, Italy.; Moutton S; CHU de Bordeaux, Service de Génétique Médicale, Bordeaux, France.; INSERM U1211, Univ. Bordeaux, Bordeaux, France.; Møller RS; Danish Epilepsy Centre, Dianalund, Denmark.; Institute for Regional Health Services, University of Southern Denmark, Odense, Denmark.; Muschke P; Institute for Human Genetics, University Hospital Magdeburg, Magdeburg, Germany.; Nielsen JEK; Department of Pediatrics, Zealand University Hospital Roskilde, Roskilde, Denmark.; Obersztyn E; Department of Medical Genetics, Institute of the Mother and Child, Warsaw, Poland.; Pantaleoni C; Developmental Neurology Department, IRCCS Fondazione Istituto Neurologico 'C. Besta,', Milan, Italy.; Pellicciari A; Child Neurology and Psychiatry Unit, S Orsola Malpighi Hospital, University of Bologna, Bologna, Italy.; Pisanti MA; Medical Genetic Unit, AORN Cardarelli, Naples, Italy.; Prpic I; Department of Pediatrics-Child Neurology Service, University Hospital Rijeka, Medical Faculty, University of Rijeka, Rijeka, Croatia.; Poch-Olive ML; Department of Pediatrics, H. San Pedro, La Rioja, Logrono, Spain.; Raviglione F; Child Neuropsychiatry Unit, U.O.N.P.I.A ASST-Rhodense, Rho, Milan, Italy.; Renieri A; Medical Genetics, University of Siena, Siena, Italy.; Ricci E; Child Neurology and Psychiatry Unit, S Orsola Malpighi Hospital, University of Bologna, Bologna, Italy.; Rivieri F; Genetics Unit, St. Chiara Hospital, Trento, Italy.; Santen GW; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.; Savasta S; Department of Pediatrics, IRCCS San Matteo, Pavia, Italy.; Scarano G; Department of Medical Genetics, Gaetano Rummo Hospital, Benevento, Italy.; Schanze I; Institute for Human Genetics, University Hospital Magdeburg, Magdeburg, Germany.; Selicorni A; Department of Pediatrics, Hospital S. Gerardo, University of Milano-Bicocca, Monza, Italy.; Department of Pediatrics, ASST Lariana, Como, Italy.; Silengo M; Department of Pediatrics, University of Torino, Torino, Italy.; Smigiel R; Department of Genetics, Wroclaw Medical University, Wroclaw, Poland.; Spaccini L; Clinical Genetics Unit, Division of Maternal Fetal Medicine, Department of Obstetrics and Gynecology, V. Buzzi Children's Hospital, Universita' degli Studi di Milano, Milan, Italy.; Sorge G; Department of Pediatrics and Medical Sciences, 'Vittorio Emanuele' Hospital, University of Catania, Catania, Italy.; Szczaluba K; Department of Medical Genetics, Warsaw Medical University, Warsaw, Poland.; Tarani L; Department of Pediatrics, University 'La Sapienza,', Rome, Italy.; Tone LG; Department of Pediatrics, Ribeirão Preto Medical School, University of São Paulo, São Paulo, Brazil.; Toutain A; Department of Genetics, Tours University Hospital, Tours, France.; Trimouille A; CHU de Bordeaux, Service de Génétique Médicale, Bordeaux, France.; INSERM U1211, Univ. Bordeaux, Bordeaux, France.; Valera ET; Department of Pediatrics, Ribeirão Preto Medical School, University of São Paulo, São Paulo, Brazil.; Vergano SS; Department of Pediatrics, Eastern Virginia Medical School, Norfolk, Virginia, USA.; Division of Medical Genetics and Metabolism, Children's Hospital of The King's Daughters, Norfolk, Virginia, USA.; Zanotta N; Clinical Genetics, NE Thames Regional Genetics Service, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.; Zenker M; Institute for Human Genetics, University Hospital Magdeburg, Magdeburg, Germany.; Conidi A; Department of Cell Biology, Erasmus University Medical Center, Rotterdam, The Netherlands.; Zollino M; Institute of Genomic Medicine, Catholic University, Gemelli Hospital Foundation, Rome, Italy.; Rauch A; Institute of Medical Genetics, University of Zurich, Schlieren-Zurich, Switzerland.; Zweier C; Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg (FAU), Erlangen, Germany.; Garavelli L; Clinical Genetics Unit, Department of Obstetrics and Pediatrics, AUSL-IRCCS of Reggio Emilia, Reggio Emilia, Italy. livia.garavelli@ausl.re.it.

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

Diets IJ; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.; Radboud Institute for Molecular Life Sciences, Nijmegen, the Netherlands.; Waanders E; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.; Radboud Institute for Molecular Life Sciences, Nijmegen, the Netherlands.; Princess Máxima Center for Pediatric Oncology, Utrecht, the Netherlands.; Ligtenberg MJ; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.; Radboud Institute for Molecular Life Sciences, Nijmegen, the Netherlands.; Department of Pathology, Radboud University Medical Center, Nijmegen, the Netherlands.; van Bladel DAG; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.; Radboud Institute for Molecular Life Sciences, Nijmegen, the Netherlands.; Kamping EJ; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.; Radboud Institute for Molecular Life Sciences, Nijmegen, the Netherlands.; Hoogerbrugge PM; Princess Máxima Center for Pediatric Oncology, Utrecht, the Netherlands.; Hopman S; Department of Genetics, University Medical Center Utrecht, Utrecht, the Netherlands.; Olderode-Berends MJ; Department of Genetics, University of Groningen, University Medical Center Groningen, Groningen, the Netherlands.; Gerkes EH; Department of Genetics, University of Groningen, University Medical Center Groningen, Groningen, the Netherlands.; Koolen DA; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.; Marcelis C; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.; Santen GW; Department of Clinical Genetics, Leiden University Medical Center, Leiden, the Netherlands.; van Belzen MJ; Department of Clinical Genetics, Leiden University Medical Center, Leiden, the Netherlands.; Mordaunt D; Department of Genetics and Molecular Pathology, SA Pathology, Women's and Children's Hospital, North Adelaide, Australia.; McGregor L; Department of Genetics and Molecular Pathology, SA Pathology, Women's and Children's Hospital, North Adelaide, Australia.; Thompson E; Department of Genetics and Molecular Pathology, SA Pathology, Women's and Children's Hospital, North Adelaide, Australia.; Kattamis A; First Department of Pediatrics, Athens University Medical School, Athens, Greece.; Pastorczak A; Department of Pediatrics, Oncology, Hematology and Diabetology, Medical University of Lodz, Lodz, Poland.; Mlynarski W; Department of Pediatrics, Oncology, Hematology and Diabetology, Medical University of Lodz, Lodz, Poland.; Ilencikova D; 2nd Pediatric Department, Children's University Hospital, Comenius University, Bratislava, Slovakia.; van Silfhout AV; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.; Gardeitchik T; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.; de Bont ES; Department of Pediatric Oncology and Hematology, Beatrix Children's Hospital, University Medical Center Groningen, Groningen, the Netherlands.; Loeffen J; Department of Pediatric Oncology and Hematology, Sophia Children's Hospital, Erasmus Medical Center, Rotterdam, the Netherlands.; Wagner A; Department of Clinical Genetics, Erasmus Medical Centre, Rotterdam, the Netherlands.; Mensenkamp AR; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.; Kuiper RP; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.; Radboud Institute for Molecular Life Sciences, Nijmegen, the Netherlands.; Princess Máxima Center for Pediatric Oncology, Utrecht, the Netherlands.; Hoogerbrugge N; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.; Radboud Institute for Molecular Life Sciences, Nijmegen, the Netherlands.; Jongmans MC; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands. Marjolijn.Jongmans@radboudumc.nl.; Radboud Institute for Molecular Life Sciences, Nijmegen, the Netherlands.; Princess Máxima Center for Pediatric Oncology, Utrecht, the Netherlands.; Department of Genetics, University Medical Center Utrecht, Utrecht, the Netherlands.

Publisher: American Association for Cancer Research Country of Publication: United States NLM ID: 9502500 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1557-3265 (Electronic) Linking ISSN: 10780432 NLM ISO Abbreviation: Clin Cancer Res Subsets: MEDLINE