부산대학교 도서관

Hackl L; Department of Paediatrics I, Medical University of Innsbruck, 6020 Innsbruck, Austria.; Haberlandt E; Krankenhaus der Stadt Dornbirn, Kinder- und Jugendheilkunde, 6850 Dornbirn, Austria.; Müller T; Department of Paediatrics I, Medical University of Innsbruck, 6020 Innsbruck, Austria.; Piribauer S; Krankenhaus der Stadt Dornbirn, Kinder- und Jugendheilkunde, 6850 Dornbirn, Austria.; Garczarczyk-Asim D; Department of Paediatrics I, Medical University of Innsbruck, 6020 Innsbruck, Austria.; Zöggeler T; Department of Paediatrics I, Medical University of Innsbruck, 6020 Innsbruck, Austria.; Karall D; Department of Paediatrics I, Medical University of Innsbruck, 6020 Innsbruck, Austria.; Zschocke J; Institute of Human Genetics, Medical University of Innsbruck, 6020 Innsbruck, Austria.; Janecke AR; Department of Paediatrics I, Medical University of Innsbruck, 6020 Innsbruck, Austria.; Institute of Human Genetics, Medical University of Innsbruck, 6020 Innsbruck, Austria.

Publisher: MDPI Country of Publication: Switzerland NLM ID: 101551097 Publication Model: Electronic Cited Medium: Internet ISSN: 2073-4425 (Electronic) Linking ISSN: 20734425 NLM ISO Abbreviation: Genes (Basel) Subsets: MEDLINE

Huber LM; Department of Pediatrics I, Medical University of Innsbruck, Innsbruck, Austria.; Subaşıoğlu A; Department of Medical Genetics, Ataturk Education and Research Hospital, Izmir Katip Celebi University, Izmir, Türkiye.; Genetic Diseases Diagnosis Center, Ataturk Education and Research Hospital, Izmir Katip Celebi University, Izmir, Türkiye.; Garczarczyk-Asim D; Department of Pediatrics I, Medical University of Innsbruck, Innsbruck, Austria.; Valovka T; Department of Pediatrics I, Medical University of Innsbruck, Innsbruck, Austria.; Institute of Cell Biology, Medical University of Innsbruck, Innsbruck, Austria.; Müller T; Department of Pediatrics I, Medical University of Innsbruck, Innsbruck, Austria.; Adam R; Department of Pediatrics, Medical Faculty Mannheim, Heidelberg University, Mannheim, Germany.; Janecke AR; Department of Pediatrics I, Medical University of Innsbruck, Innsbruck, Austria.; Institute of Human Genetics, Medical University of Innsbruck, Innsbruck, Austria.

Publisher: Munksgaard Country of Publication: Denmark NLM ID: 0253664 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1399-0004 (Electronic) Linking ISSN: 00099163 NLM ISO Abbreviation: Clin Genet Subsets: MEDLINE

Janecke, Andreas R ; Müller, Thomas; Gassner, Ingmar; Kreczy, Alfons; Schmid, Eduard; Kronenberg, Florian; Utermann, Barbara; Utermann, Gerd

In The Journal of Pediatrics 2004 144(2):264-269

Kerle LS; Department of Pediatrics I, Medical University of Innsbruck, Innsbruck, Austria.; Karlsland Åkeson P; Department of Pediatrics, Skåne University Hospital, Lund University, Malmö, Sweden.; Müller T; Department of Pediatrics I, Medical University of Innsbruck, Innsbruck, Austria.; Janecke AR; Department of Pediatrics I, Medical University of Innsbruck, Innsbruck, Austria.; Division of Human Genetics, Medical University of Innsbruck, Innsbruck, Austria.

Publisher: Munksgaard Country of Publication: Denmark NLM ID: 0253664 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1399-0004 (Electronic) Linking ISSN: 00099163 NLM ISO Abbreviation: Clin Genet Subsets: MEDLINE

Böhler, Thomas ; Krämer, Thomas ; Janecke, Andreas R ; Hoffmann, Georg Friedrich ; Linderkamp, Otwin

In Early Human Development 1999 54(3):223-234

Gossner L; Department of Pediatrics I, Medical University of Innsbruck, 6020 Innsbruck, Austria.; Rieder D; Division of Bioinformatics, Medical University of Innsbruck, 6020 Innsbruck, Austria.; Müller T; Department of Pediatrics I, Medical University of Innsbruck, 6020 Innsbruck, Austria.; Janecke AR; Department of Pediatrics I, Medical University of Innsbruck, 6020 Innsbruck, Austria.; Institute of Human Genetics, Medical University of Innsbruck, 6020 Innsbruck, Austria.

Publisher: MDPI Country of Publication: Switzerland NLM ID: 101551097 Publication Model: Electronic Cited Medium: Internet ISSN: 2073-4425 (Electronic) Linking ISSN: 20734425 NLM ISO Abbreviation: Genes (Basel) Subsets: MEDLINE

Vogel GF; Department of Paediatrics I, Medical University of Innsbruck, Innsbruck, Austria.; Institute of Cell Biology, Medical University of Innsbruck, Innsbruck, Austria.; Podpeskar A; Department of Paediatrics I, Medical University of Innsbruck, Innsbruck, Austria.; Rieder D; Division of Bioinformatics, Medical University of Innsbruck, Innsbruck, Austria.; Salzer H; Department of Paediatrics I, Medical University of Innsbruck, Innsbruck, Austria.; Garczarczyk-Asim D; Department of Paediatrics I, Medical University of Innsbruck, Innsbruck, Austria.; Wang L; The Center for Pediatric Liver Diseases, Children's Hospital of Fudan University, National Children's Medical Center, Shanghai, China.; Abuduxikuer K; The Center for Pediatric Liver Diseases, Children's Hospital of Fudan University, National Children's Medical Center, Shanghai, China.; Wang JS; The Center for Pediatric Liver Diseases, Children's Hospital of Fudan University, National Children's Medical Center, Shanghai, China.; Scharrer A; Department of Pathology, Medical University Vienna, Vienna, Austria.; Faqeih EA; Section of Medical Genetics, King Fahad Medical City, Children's Specialist Hospital, Riyadh, Kingdom of Saudi Arabia.; Aseeri AT; Section of Gastroenterology and Hepatology, King Fahad Medical City, Children's Specialist Hospital, Riyadh, Kingdom of Saudi Arabia.; Vodopiutz J; Department of Pediatrics and Adolescent Medicine, Division of Pediatric Pulmonology, Allergology and Endocrinology, Comprehensive Center for Pediatrics, Medical University of Vienna, Vienna, Austria.; Heilos A; Department of Pediatric Nephrology and Gastroenterology, Medical University Vienna, Vienna, Austria.; Pichler J; Department of Pediatric Nephrology and Gastroenterology, Medical University Vienna, Vienna, Austria.; Huber WD; Department of Pediatric Nephrology and Gastroenterology, Medical University Vienna, Vienna, Austria.; Müller T; Department of Paediatrics I, Medical University of Innsbruck, Innsbruck, Austria.; Knisely AS; Diagnostik- und Forschungsinstitut für Pathologie, Medizinische Universität Graz, Graz, Austria.; Janecke AR; Department of Paediatrics I, Medical University of Innsbruck, Innsbruck, Austria.; Division of Human Genetics, Medical University of Innsbruck, Innsbruck, Austria.

Publisher: Munksgaard Country of Publication: Denmark NLM ID: 0253664 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1399-0004 (Electronic) Linking ISSN: 00099163 NLM ISO Abbreviation: Clin Genet Subsets: MEDLINE

Schneeberger, Pauline E; Nampoothiri, Sheela; Holling, Tess; Yesodharan, Dhanya; Alawi, Malik; Knisely, A S; Müller, Thomas; Plecko, Barbara; Janecke, Andreas R; Kutsche, Kerstin

Brain: A Journal of Neurology. Oct2021, Vol. 144 Issue 10, p3036-3049. 14p.

Wiessner, Manuela; Maroofian, Reza; Ni, Meng-Yuan; Pedroni, Andrea; Müller, Juliane S; Stucka, Rolf; Beetz, Christian; Efthymiou, Stephanie; Santorelli, Filippo M; Alfares, Ahmed A; Zhu, Changlian; Meszarosova, Anna Uhrova; Alehabib, Elham; Bakhtiari, Somayeh; Janecke, Andreas R; Otero, Maria Gabriela; Chen, Jin Yun Helen; Peterson, James T; Strom, Tim M; Jonghe, Peter De

Brain: A Journal of Neurology. May2021, Vol. 144 Issue 5, p1422-1434. 13p.

Schmuth, Matthias; Martinz, Verena; Janecke, Andreas R; Fauth, Christine; Schossig, Anna; Zschocke, Johannes; Gruber, Robert

European Journal of Human Genetics. Feb2013, Vol. 21 Issue 2, p123-133. 11p. 1 Color Photograph, 1 Diagram, 6 Charts.

Stegmann JD; Institute of Human Genetics, Medical Faculty, University of Bonn, Bonn, 53127, Germany. jil.stegmann@uni-bonn.de.; Institute of Anatomy and Cell Biology, Medical Faculty, University of Bonn, Bonn, 53115, Germany. jil.stegmann@uni-bonn.de.; Kalanithy JC; Institute of Human Genetics, Medical Faculty, University of Bonn, Bonn, 53127, Germany.; Institute of Neuroanatomy, Medical Faculty, University of Bonn, Bonn, 53115, Germany.; Dworschak GC; Institute of Human Genetics, Medical Faculty, University of Bonn, Bonn, 53127, Germany.; Institute of Neuroanatomy, Medical Faculty, University of Bonn, Bonn, 53115, Germany.; Department of Neuropediatrics, University Hospital Bonn, Bonn, 53127, Germany.; Ishorst N; Institute of Human Genetics, Medical Faculty, University of Bonn, Bonn, 53127, Germany.; Institute of Neuroanatomy, Medical Faculty, University of Bonn, Bonn, 53115, Germany.; Mingardo E; Institute of Anatomy and Cell Biology, Medical Faculty, University of Bonn, Bonn, 53115, Germany.; Lopes FM; Division of Cell Matrix Biology and Regenerative Medicine, School of Biological Sciences, Faculty of Biology Medicine and Health, University of Manchester, Manchester, UK.; Ho YM; Division of Cell Matrix Biology and Regenerative Medicine, School of Biological Sciences, Faculty of Biology Medicine and Health, University of Manchester, Manchester, UK.; Grote P; Georg-Speyer-Haus, Institute for Tumor Biology and Experimental Therapy, 60596, Frankfurt am Main, Germany.; Lindenberg TT; Institute of Neuroanatomy, Medical Faculty, University of Bonn, Bonn, 53115, Germany.; Yilmaz Ö; Institute of Neuroanatomy, Medical Faculty, University of Bonn, Bonn, 53115, Germany.; Channab K; Institute of Anatomy and Cell Biology, Medical Faculty, University of Bonn, Bonn, 53115, Germany.; Seltzsam S; Division of Nephrology, Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.; Shril S; Division of Nephrology, Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.; Hildebrandt F; Division of Nephrology, Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.; Boschann F; Institute of Medical Genetics and Human Genetics, Charité Universitätsmedizin Berlin, corporate member of Freie Universität Berlin and Humboldt-Universität zu Berlin, Berlin, Germany.; Heinen A; Department of Pediatrics, Medizinische Fakultät Carl Gustav Carus, Technische Universität Dresden, Dresden, Germany.; Jolly A; Department of Molecular & Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA.; Medical Scientist Training Program, Baylor College of Medicine, Houston, TX, USA.; Myers K; Center for Cardiovascular Research, Nationwide Children's Hospital, Department of Pediatrics, Ohio State University, Columbus, OH, USA.; McBride K; Center for Cardiovascular Research, Nationwide Children's Hospital, Department of Pediatrics, Ohio State University, Columbus, OH, USA.; Bekheirnia MR; Department of Molecular & Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA.; Department of Pediatrics, Renal Service, Texas Children's Hospital, Houston, TX, 77030, USA.; Bekheirnia N; Department of Pediatrics, Renal Service, Texas Children's Hospital, Houston, TX, 77030, USA.; Department of Pediatrics, Baylor College of Medicine, Houston, TX, 77030, USA.; Scala M; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DINOGMI), University of Genoa, 16132, Genoa, Italy.; U.O.C. Genetica Medica, IRCCS Istituto Giannina Gaslini, 16147, Genoa, Italy.; Morleo M; Medical Genetics, Department of Precision Medicine, Università degli Studi della Campania 'Luigi Vanvitelli', via Luigi De Crecchio 7, 80138, Naples, Italy.; Telethon Institute of Genetics and Medicine, Pozzuoli, Naples, Italy.; Nigro V; Medical Genetics, Department of Precision Medicine, Università degli Studi della Campania 'Luigi Vanvitelli', via Luigi De Crecchio 7, 80138, Naples, Italy.; Telethon Institute of Genetics and Medicine, Pozzuoli, Naples, Italy.; Torella A; Medical Genetics, Department of Precision Medicine, Università degli Studi della Campania 'Luigi Vanvitelli', via Luigi De Crecchio 7, 80138, Naples, Italy.; Telethon Institute of Genetics and Medicine, Pozzuoli, Naples, Italy.; Pinelli M; Telethon Institute of Genetics and Medicine, Pozzuoli, Naples, Italy.; Department of Molecular Medicine and Medical Biotechnologies, University Federico II, Naples, Italy.; Capra V; Genomics and Clinical Genetics, IRCCS Gaslini, Genoa, Italy.; Accogli A; Division of Medical Genetics, Department of Specialized Medicine, McGill University, Montreal, QC, Canada.; Department of Human Genetics, McGill University, Montreal, QC, Canada.; Maitz S; Medical Genetics Service, Oncology Department of Southern Switzerland, Ente Ospedaliero Cantonale, Lugano, Switzerland.; Spano A; MBBM Foundation, Monza, Italy.; Olson RJ; Center for Individualized Medicine, Mayo Clinic, Rochester, MN, USA.; Klee EW; Center for Individualized Medicine, Mayo Clinic, Rochester, MN, USA.; Department of Clinical Genomics, Mayo Clinic, Rochester, MN, USA.; Department of Quantitative Health Sciences, Mayo Clinic, Rochester, MN, USA.; Lanpher BC; Center for Individualized Medicine, Mayo Clinic, Rochester, MN, USA.; Department of Clinical Genomics, Mayo Clinic, Rochester, MN, USA.; Jang SS; Department of Pediatrics, Seoul National University College of Medicine, Seoul, Republic of Korea.; Chae JH; Department of Pediatrics, Seoul National University College of Medicine, Seoul, Republic of Korea.; Department of Genomics Medicine, Rare Disease Center, Seoul National University Hospital, Seoul, Republic of Korea.; Steinbauer P; Division of Neonatology, Pediatric Intensive Care and Neuropediatrics, Comprehensive Center for Pediatrics, Medical University of Vienna, Vienna, Austria.; Rieder D; Division of Bioinformatics, Medical University of Innsbruck, 6020, Innsbruck, Austria.; Janecke AR; Department of Pediatrics I, Medical University of Innsbruck, 6020, Innsbruck, Austria.; Division of Human Genetics, Medical University of Innsbruck, 6020, Innsbruck, Austria.; Vodopiutz J; Department of Pediatrics and Adolescent Medicine, Division of Pediatric Pulmonology, Allergology and Endocrinology, Comprehensive Center for Pediatrics, Medical University of Vienna, 1090, Vienna, Austria.; Vogel I; Department of Clinical Medicine, Aarhus University, Aarhus, Denmark.; Department of Clinical Genetics, Aarhus University Hospital, Aarhus, Denmark.; Blechingberg J; Department of Clinical Genetics, Aarhus University Hospital, Aarhus, Denmark.; Cohen JL; Division of Medical Genetics, Department of Pediatrics, Duke University, Durham, NC, USA.; Riley K; Department of Pediatrics, Duke University Medical Center, Durham, NC, USA.; Klee V; Pediatric Neurology, Riley Hospital for Children Indiana University Health, Indianapolis, IN, USA.; Walsh LE; Pediatric Neurology, Riley Hospital for Children Indiana University Health, Indianapolis, IN, USA.; Begemann M; Institute for Human Genetics and Genomic Medicine, Medical Faculty, RWTH Aachen University, Aachen, Germany.; Elbracht M; Institute for Human Genetics and Genomic Medicine, Medical Faculty, RWTH Aachen University, Aachen, Germany.; Eggermann T; Institute for Human Genetics and Genomic Medicine, Medical Faculty, RWTH Aachen University, Aachen, Germany.; Stoppe A; Division of Neuropediatrics and Social Pediatrics, Department of Pediatrics, Medical Faculty, RWTH Aachen University, 52074, Aachen, Germany.; Stuurman K; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands.; van Slegtenhorst M; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands.; Barakat TS; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands.; Mulhern MS; Department of Neurology, Columbia University Vagelos College of Physicians and Surgeons, New York, NY, USA.; Department of Pathology, Columbia University Vagelos College of Physicians and Surgeons, New York, NY, USA.; Sands TT; Division of Child Neurology, Department of Neurology, Columbia University Vagelos College of Physicians and Surgeons and NewYork-Presbyterian Morgan Stanley Children's Hospital, New York, NY, USA.; Department of Pediatrics, Columbia University Vagelos College of Physicians and Surgeons and NewYork-Presbyterian Morgan Stanley Children's Hospital, New York, NY, USA.; Institute for Genomic Medicine, Columbia University Vagelos College of Physicians and Surgeons, New York, NY, USA.; Cytrynbaum C; Department of Genetic Counselling, The Hospital for Sick Children, Toronto, ON, M5G 1X8, Canada.; Department of Molecular Genetics, University of Toronto, Toronto, ON, M5S 1A1, Canada.; Weksberg R; Department of Molecular Genetics, University of Toronto, Toronto, ON, M5S 1A1, Canada.; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, ON, M5G 1X8, Canada.; Isidori F; U.O. Genetica Medica, IRCCS Azienda Ospedaliero-Universitaria di Bologna, Bologna, Italy.; Pippucci T; U.O. Genetica Medica, IRCCS Azienda Ospedaliero-Universitaria di Bologna, Bologna, Italy.; Severi G; U.O. Genetica Medica, IRCCS Azienda Ospedaliero-Universitaria di Bologna, Bologna, Italy.; Montanari F; U.O. Genetica Medica, IRCCS Azienda Ospedaliero-Universitaria di Bologna, Bologna, Italy.; Kruer MC; Pediatric Movement Disorders Program, Division of Pediatric Neurology, Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, AZ, USA.; Departments of Child Health, Neurology, and Cellular & Molecular Medicine, and Program in Genetics, University of Arizona College of Medicine-Phoenix, Phoenix, AZ, USA.; Bakhtiari S; Pediatric Movement Disorders Program, Division of Pediatric Neurology, Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, AZ, USA.; Departments of Child Health, Neurology, and Cellular & Molecular Medicine, and Program in Genetics, University of Arizona College of Medicine-Phoenix, Phoenix, AZ, USA.; Darvish H; Neuroscience Research Center, Faculty of Medicine, Golestan University of Medical Sciences, Gorgan, Iran.; Reutter H; Institute of Human Genetics, Medical Faculty, University of Bonn, Bonn, 53127, Germany.; Division Neonatology and Pediatric Intensive Care, Department of Pediatric and Adolescent Medicine, Friedrich-Alexander University of Erlangen-Nürnberg, Erlangen, Germany.; Institute of Human Genetics, Friedrich-Alexander University of Erlangen-Nürnberg, Erlangen, Germany.; Hagelueken G; Institute of Structural Biology, University Hospital Bonn, University of Bonn, Venusberg-Campus 1, 53127, Bonn, Germany.; Geyer M; Institute of Structural Biology, University Hospital Bonn, University of Bonn, Venusberg-Campus 1, 53127, Bonn, Germany.; Woolf AS; Division of Cell Matrix Biology and Regenerative Medicine, School of Biological Sciences, Faculty of Biology Medicine and Health, University of Manchester, Manchester, UK.; Royal Manchester Children's Hospital, Manchester University NHS Foundation Trust, Manchester Academic Health Science Centre, Manchester, UK.; Posey JE; Department of Molecular & Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA.; Lupski JR; Department of Molecular & Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA.; Department of Pediatrics, Baylor College of Medicine, Houston, TX, 77030, USA.; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, 77030, USA.; Texas Children's Hospital, Houston, TX, 77030, USA.; Odermatt B; Institute of Anatomy and Cell Biology, Medical Faculty, University of Bonn, Bonn, 53115, Germany.; Institute of Neuroanatomy, Medical Faculty, University of Bonn, Bonn, 53115, Germany.; Hilger AC; Department of Pediatric and Adolescent Medicine, Friedrich-Alexander University of Erlangen-Nürnberg, Erlangen, 91054, Germany. alina.hilger@uk-erlangen.de.; Research Center On Rare Kidney Diseases (RECORD), University Hospital Erlangen, 91054, Erlangen, Germany. alina.hilger@uk-erlangen.de.

Publisher: Springer Nature in partnership with the Center of Excellence in Genomic Medicine Research at King Abdulaziz University Country of Publication: England NLM ID: 101685193 Publication Model: Electronic Cited Medium: Internet ISSN: 2056-7944 (Electronic) Linking ISSN: 20567944 NLM ISO Abbreviation: NPJ Genom Med Subsets: PubMed not MEDLINE

Löffler, Judith; Nekahm, Doris; Hirst-Stadlmann, Almut; Günther, Barbara; Menzel, Hans-Jürgen; Utermann, Gerd; Janecke, Andreas R

European Journal of Human Genetics. Mar2001, Vol. 9 Issue 3, p226. 5p.

Heinz-Erian, Peter; Janecke, Andreas R; Müller, Thomas; Rehder, Peter; Bruder, Elisabeth; Menter, Thomas; Zoller, Heinz; Pirklbauer, Markus; Rieger, Michael

Gastroenterology Report; 2023, Vol. 11, p1-3, 3p

Vogel GF; Department of Paediatrics I, Medical University of Innsbruck, Anichstrasse 35, Innsbruck, 6020, Austria.; Institute of Cell Biology, Biocenter, Medical University of Innsbruck, Innsbruck, 6020, Austria.; Klee KMC; Institute of Cell Biology, Biocenter, Medical University of Innsbruck, Innsbruck, 6020, Austria.; Demir AM; Ankara University, Faculty of Medicine, Department of Pediatrics, Division of Pediatric Gastroenterology, Hepatology and Nutrition, Ankara, 06110, Türkiye.; Garczarczyk-Asim D; Department of Paediatrics I, Medical University of Innsbruck, Anichstrasse 35, Innsbruck, 6020, Austria.; Hess MW; Institute of Histology und Embryology, Medical University of Innsbruck, Innsbruck, Austria.; Huber LA; Institute of Cell Biology, Biocenter, Medical University of Innsbruck, Innsbruck, 6020, Austria.; Müller T; Department of Paediatrics I, Medical University of Innsbruck, Anichstrasse 35, Innsbruck, 6020, Austria.; Janecke AR; Department of Paediatrics I, Medical University of Innsbruck, Anichstrasse 35, Innsbruck, 6020, Austria. andreas.janecke@i-med.ac.at.; Division of Human Genetics, Medical University of Innsbruck, Innsbruck, 6020, Austria. andreas.janecke@i-med.ac.at.

Publisher: Springer Verlag Country of Publication: Germany NLM ID: 7613873 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1432-1203 (Electronic) Linking ISSN: 03406717 NLM ISO Abbreviation: Hum Genet Subsets: MEDLINE

Waich S; Institute of Cell Biology, Biocenter, and.; Kreidl K; Institute of Cell Biology, Biocenter, and.; Department of Paediatrics I, Medical University of Innsbruck, Innsbruck, Austria.; Vodopiutz J; Division of Paediatric Pulmonology, Allergology and Endocrinology, Department of Paediatrics and Adolescent Medicine, Comprehensive Center for Paediatrics, Medical University of Vienna, Vienna, Austria.; Vienna Bone & Growth Center (VBGC), Medical University of Vienna, and full member of European Reference Network on Rare Bone Diseases, Vienna, Austria.; Demir AM; Ankara Child Health and Diseases, Training and Research Hospital, Department of Paediatric Gastroenterology, Ankara, Turkey.; Division of Paediatric Gastroenterology, Hepatology and Nutrition, Department of Paediatrics, Ankara University School of Medicine, Ankara, Turkey.; Pollio AR; Institute of Cell Biology, Biocenter, and.; Dostál V; Institute of Cell Biology, Biocenter, and.; Pfaller K; Institute of Histology and Embryology, Medical University of Innsbruck, Innsbruck, Austria.; Parlato M; Université Paris Cité, Laboratory of Intestinal Immunity, Institut IMAGINE INSERM UMR 1163, Paris, France.; Cerf-Bensussan N; Université Paris Cité, Laboratory of Intestinal Immunity, Institut IMAGINE INSERM UMR 1163, Paris, France.; Adam R; University Children's Hospital, Paediatric Gastroenterology, Hepatology and Nutrition, Medical Faculty Mannheim, Heidelberg University, Mannheim, Germany.; Vogel GF; Institute of Cell Biology, Biocenter, and.; Department of Paediatrics I, Medical University of Innsbruck, Innsbruck, Austria.; Uhlig HH; Experimental Medicine Division, Nuffield Department of Clinical Medicine; Department of Paediatrics; and Oxford Biomedical Research Centre, University of Oxford, Oxford, United Kingdom.; Ruemmele FM; Université Paris Cité, Faculté de Santé, UFR de Médicine, APHP, Hôpital Universitaire Necker Enfants Malades, Service de Gastroentérologie Pediatrique, Institut IMAGINE INSERM UMR 1163, Paris, France.; Müller T; Department of Paediatrics I, Medical University of Innsbruck, Innsbruck, Austria.; Hess MW; Institute of Histology and Embryology, Medical University of Innsbruck, Innsbruck, Austria.; Janecke AR; Department of Paediatrics I, Medical University of Innsbruck, Innsbruck, Austria.; Institute of Human Genetics, Medical University of Innsbruck, Innsbruck, Austria.; Huber LA; Institute of Cell Biology, Biocenter, and.; Valovka T; Institute of Cell Biology, Biocenter, and.; Department of Paediatrics I, Medical University of Innsbruck, Innsbruck, Austria.

Publisher: American Society for Clinical Investigation Country of Publication: United States NLM ID: 101676073 Publication Model: Electronic Cited Medium: Internet ISSN: 2379-3708 (Electronic) Linking ISSN: 23793708 NLM ISO Abbreviation: JCI Insight Subsets: MEDLINE

Hoşnut FÖ; Department of Pediatric Gastroenterology, Hepatology and Nutrition, Dr. Sami Ulus Maternity and Child Health and Diseases Training and Research Hospital, University of Health Sciences, 06080 Ankara, Turkey.; Janecke AR; Department of Pediatrics I, Medical University of Innsbruck, 6020 Innsbruck, Austria.; Institute of Human Genetics, Medical University of Innsbruck, 6020 Innsbruck, Austria.; Şahin G; Department of Pediatric Gastroenterology, Hepatology and Nutrition, Dr. Sami Ulus Maternity and Child Health and Diseases Training and Research Hospital, University of Health Sciences, 06080 Ankara, Turkey.; Vogel GF; Department of Pediatrics I, Medical University of Innsbruck, 6020 Innsbruck, Austria.; Institute of Cell Biology, Biocenter, Medical University of Innsbruck, 6020 Innsbruck, Austria.; Lafcı NG; Department of Medical Genetics, Faculty of Medicine, Hacettepe University, 06230 Ankara, Turkey.; Department of Medical Genetics, Dr. Sami Ulus Maternity and Child Health and Diseases Training and Research Hospital, University of Health Sciences, 06080 Ankara, Turkey.; Bichler P; Department of Pediatrics I, Medical University of Innsbruck, 6020 Innsbruck, Austria.; Institute of Cell Biology, Biocenter, Medical University of Innsbruck, 6020 Innsbruck, Austria.; Müller T; Department of Pediatrics I, Medical University of Innsbruck, 6020 Innsbruck, Austria.; Huber LA; Institute of Cell Biology, Biocenter, Medical University of Innsbruck, 6020 Innsbruck, Austria.; Valovka T; Department of Pediatrics I, Medical University of Innsbruck, 6020 Innsbruck, Austria.; Institute of Cell Biology, Biocenter, Medical University of Innsbruck, 6020 Innsbruck, Austria.; Aksu AÜ; Department of Pediatric Gastroenterology, Hepatology and Nutrition, Ankara Bilkent Hospital, University of Health Sciences, 06800 Ankara, Turkey.

Publisher: MDPI Country of Publication: Switzerland NLM ID: 101551097 Publication Model: Electronic Cited Medium: Internet ISSN: 2073-4425 (Electronic) Linking ISSN: 20734425 NLM ISO Abbreviation: Genes (Basel) Subsets: MEDLINE

Kohlmaier B; Department of General Paediatrics, Medical University of Graz, 8010, Graz, Austria.; Skok K; Diagnostic and Research Institute of Pathology, Medical University of Graz, 8010, Graz, Austria.; Lackner C; Diagnostic and Research Institute of Pathology, Medical University of Graz, 8010, Graz, Austria.; Haselrieder G; Department of Paediatrics I, Medical University of Innsbruck, 6020, Innsbruck, Austria.; Müller T; Department of Paediatrics I, Medical University of Innsbruck, 6020, Innsbruck, Austria.; Sailer S; Institute of Human Genetics, Medical University of Innsbruck, 6020, Innsbruck, Austria.; Zschocke J; Institute of Human Genetics, Medical University of Innsbruck, 6020, Innsbruck, Austria.; Keller MA; Institute of Human Genetics, Medical University of Innsbruck, 6020, Innsbruck, Austria.; Knisely AS; Diagnostic and Research Institute of Pathology, Medical University of Graz, 8010, Graz, Austria. asknisely@gmail.com.; Janecke AR; Department of Paediatrics I, Medical University of Innsbruck, 6020, Innsbruck, Austria. andreas.janecke@i-med.ac.at.; Institute of Human Genetics, Medical University of Innsbruck, 6020, Innsbruck, Austria. andreas.janecke@i-med.ac.at.

Publisher: Nature Pub. Group Country of Publication: England NLM ID: 101256108 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1476-5497 (Electronic) Linking ISSN: 03070565 NLM ISO Abbreviation: Int J Obes (Lond) Subsets: MEDLINE

Vodopiutz J; Department of Pediatrics and Adolescent Medicine, Division of Pediatric Pulmonology, Allergology and Endocrinology, Comprehensive Center for Pediatrics, Medical University of Vienna, 1090 Vienna, Austria.; Vienna Bone and Growth Center, 1130 Vienna, Austria.; Steurer LM; Vienna Bone and Growth Center, 1130 Vienna, Austria.; Department of Pediatrics and Adolescent Medicine, Division of Neonatology, Pediatric Intensive Care and Neuropediatrics, Comprehensive Center for Pediatrics, Medical University of Vienna, 1090 Vienna, Austria.; Haufler F; Department of Pediatrics and Adolescent Medicine, Division of Pediatric Pulmonology, Allergology and Endocrinology, Comprehensive Center for Pediatrics, Medical University of Vienna, 1090 Vienna, Austria.; Laccone F; Institute of Medical Genetics, Medical University of Vienna, 1090 Vienna, Austria.; Garczarczyk-Asim D; Department of Pediatrics I, Medical University of Innsbruck, 6020 Innsbruck, Austria.; Hilkenmeier M; Department of Pediatrics I, Medical University of Innsbruck, 6020 Innsbruck, Austria.; Steinbauer P; Department of Pediatrics and Adolescent Medicine, Division of Neonatology, Pediatric Intensive Care and Neuropediatrics, Comprehensive Center for Pediatrics, Medical University of Vienna, 1090 Vienna, Austria.; Janecke AR; Department of Pediatrics I, Medical University of Innsbruck, 6020 Innsbruck, Austria.; Division of Human Genetics, Medical University of Innsbruck, 6020 Innsbruck, Austria.

Publisher: MDPI Country of Publication: Switzerland NLM ID: 101551097 Publication Model: Electronic Cited Medium: Internet ISSN: 2073-4425 (Electronic) Linking ISSN: 20734425 NLM ISO Abbreviation: Genes (Basel) Subsets: MEDLINE

Holt-Danborg, Lasse; Vodopiutz, Julia; Nonboe, Annika W; Laffolie, Jan De; Skovbjerg, Signe; Wolters, Victorien M; Müller, Thomas; Hetzer, Benjamin; Querfurt, Alexander; Zimmer, Klaus-Peter; Jensen, Jan K; Entenmann, Andreas; Heinz-Erian, Peter; Vogel, Lotte K; Janecke, Andreas R

Human Molecular Genetics; 3/1/2019, Vol. 28 Issue 5, p828-841, 14p

Solaki M; Centre for Ophthalmology, Institute for Ophthalmic Research, University of Tübingen, Tübingen, Germany.; Baumann B; Centre for Ophthalmology, Institute for Ophthalmic Research, University of Tübingen, Tübingen, Germany.; Reuter P; Centre for Ophthalmology, Institute for Ophthalmic Research, University of Tübingen, Tübingen, Germany.; Andreasson S; Department of Ophthalmology, University Hospital Lund, Lund, Sweden.; Audo I; Sorbonne Université, INSERM, CNRS, Institut de la Vision, Paris, France.; CHNO des Quinze-Vingts, Centre de Référence Maladies Rares REFERET, and INSERM-DGOS CIC1423, Paris, France.; Ayuso C; Department of Genetics & Genomics, Instituto de Investigación Sanitaria - Fundación Jiménez Díaz University Hospital - Universidad Autónoma de Madrid (IIS-FJD, UAM), Madrid, Spain.; Center for Biomedical Network Research on Rare Diseases (CIBERER), ISCIII, Madrid, Spain.; Balousha G; Department of Pathology and Histology, Faculty of Medicine, Al-Quds University, Eastern Jerusalem, Palestine.; Benedicenti F; Clinical Genetics Service and South Tyrol Coordination Center for Rare Diseases, Department of Pediatrics, Regional Hospital of Bolzano, Bolzano, Italy.; Birch D; Retina Foundation of the Southwest, Dallas, Texas, USA.; Bitoun P; Genetique Medicale, CHU Paris Nord, Hopital Jean Verdier, Bondy Cedex, France.; Blain D; National Eye Institute/NEI, Bethesda, Maryland, USA.; Bocquet B; National Reference Centre for Inherited Sensory Diseases, Institute for Neurosciences of Montpellier (INM), University of Montpellier, INSERM, Montpellier, France.; Branham K; Department of Ophthalmology and Visual Sciences, Kellogg Eye Center, University of Michigan, Ann Arbor, Michigan, USA.; Català-Mora J; Unitat de Distròfies Hereditàries de Retina Hospital Sant Joan de Déu, Barcelona, Esplugues de Llobregat, Spain.; De Baere E; Department of Biomolecular Medicine, Center for Medical Genetics, Ghent University and Ghent University Hospital, Ghent, Belgium.; Dollfus H; CARGO, Hôpitaux Universitaires de Strasbourg, Strasbourg, France.; U-1112, Inserm, Faculté de Médecine, Université de Strasbourg, Strasbourg, France.; Falana M; Department of Pathology and Histology, Faculty of Medicine, Al-Quds University, Eastern Jerusalem, Palestine.; Giorda R; Molecular Biology Laboratory, Scientific Institute IRCCS E. Medea, Bosisio Parini, Lecco, Italy.; Golovleva I; Department of Medical Biosciences/Medical and Clinical Genetics, University of Umea, Umea, Sweden.; Gottlob I; The University of Leicester Ulverscroft Eye Unit, Leicester Royal Infirmary, Leicester, UK.; Heckenlively JR; Department of Ophthalmology and Visual Sciences, Kellogg Eye Center, University of Michigan, Ann Arbor, Michigan, USA.; Jacobson SG; Department of Ophthalmology, Perelman School of Medicine, Scheie Eye Institute, University of Pennsylvania, Philadelphia, Pennsylvania, USA.; Jones K; Retina Foundation of the Southwest, Dallas, Texas, USA.; Jägle H; Department of Ophthalmology, University of Regensburg, Regensburg, Germany.; Janecke AR; Institute of Human Genetics, Medical University of Innsbruck, Innsbruck, Austria.; Kellner U; Zentrum für Seltene Netzhauterkrankungen, AugenZentrum Siegburg, MVZ Augenärztliches Diagnostik- und Therapiecentrum Siegburg GmbH, Siegburg, Germany.; RetinaScience, Bonn, 53192, Germany.; Liskova P; Department of Paediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic.; Department of Ophthalmology, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic.; Lorenz B; Department of Ophthalmology, Justus-Liebig University Giessen, Giessen, Germany.; Department of Ophthalmology, Universitaetsklinikum Bonn, Bonn, Germany.; Martorell-Sampol L; Genetica Molecular-Edifici Docent, Hospital Sant Joan de Deu, Esplugues-Barcelona, Spain.; Messias A; Department of Ophthalmology, Otorhinolaryngology, and Head and Neck Surgery, School of Medicine of Ribeirão Preto, University of São Paulo, Ribeirão Preto, Brazil.; Meunier I; National Reference Centre for Inherited Sensory Diseases, Montpellier University Hospital, University of Montpellier, Montpellier, France.; Sensgene Care Network, France.; Belga Ottoni Porto F; INRET Clínica e Centro de Pesquisa, IEP Santa Casa Belo Horizonte, Belo Horizonte, MG, Brazil.; Papageorgiou E; Department of Ophthalmology, University Hospital of Larissa, Mezourlo, Larissa, Greece.; Plomp AS; Department of Human Genetics, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands.; de Ravel TJL; Centre for Medical Genetics, University Hospital Brussels, Brussels, Belgium.; Reiff CM; Augenarztpraxis am Stadttheater, Freiburg, Germany.; Renner AB; Augenarztpraxis Regensburg, Regensburg, Germany.; Rosenberg T; Department of Ophthalmology, National Eye Clinic, Glostrup Hospital, Glostrup, Denmark.; Rudolph G; University Eye Hospital, Ludwig Maximilians University, Munich, Germany.; Salati R; Scientific Institute, IRCCS Eugenio Medea, Pediatric Ophthalmology Unit, Bosisio Parini, Lecco, Italy.; Sener EC; Strabismus and Pediatric Ophthalmology, Private Practice, Ankara, Turkey.; Sieving PA; Center for Ocular Regenerative Therapy, School of Medicine, University of California Davis, Sacramento, USA.; Stanzial F; Clinical Genetics Service and South Tyrol Coordination Center for Rare Diseases, Department of Pediatrics, Regional Hospital of Bolzano, Bolzano, Italy.; Traboulsi EI; Center for Genetic Eye Diseases, Cole Eye Institute, Cleveland Clinic Foundation, Cleveland, Ohio, USA.; Tsang SH; Department of Ophthalmology, Pathology and Cell Biology, College of Physicians and Surgeons, Columbia Stem Cell Initiative, Columbia University, New York City, New York, USA.; Varsanyi B; Department of Ophthalmology, Medical School, University of Pécs and Ganglion Medical Center, Pécs, Pécs, Hungary.; Weleber RG; Oregon Health & Science University, Ophthalmic Genetics Service of the Casey Eye Institute, 515 SW Campus Drive, 97239, Portland, Oregon, USA.; Zobor D; Centre for Ophthalmology, Institute for Ophthalmic Research, University Hospital Tübingen, Tübingen, Germany.; Department of Ophthalmology, Semmelweis University Budapest, Budapest, Hungary.; Stingl K; Center for Ophthalmology, University Eye Hospital, University of Tübingen, Tübingen, Germany.; Center for Rare Eye Diseases, University of Tübingen, Tübingen, Germany.; Wissinger B; Centre for Ophthalmology, Institute for Ophthalmic Research, University of Tübingen, Tübingen, Germany.; Kohl S; Centre for Ophthalmology, Institute for Ophthalmic Research, University of Tübingen, Tübingen, Germany.

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