부산대학교 도서관

Lang SH; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Texas Children's Hospital, Houston, TX 77030, USA.; Lo RS; Pacific Northwest Research Institute, Seattle, WA 98122, USA.; Cromie GA; Pacific Northwest Research Institute, Seattle, WA 98122, USA.; Dudley AM; Pacific Northwest Research Institute, Seattle, WA 98122, USA.; Mew NA; Center for Precision Medicine and Genomic Research, Children's National Hospital, Washington, DC 20012, USA.; Simpson K; Children's National Rare Disease Institute, Children's National Hospital, Washington, DC 20012, USA.; Sutton VR; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Texas Children's Hospital, Houston, TX 77030, USA.; Darilek S; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Texas Children's Hospital, Houston, TX 77030, USA.; Ali S; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Texas Children's Hospital, Houston, TX 77030, USA.; Snyder MT; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Texas Children's Hospital, Houston, TX 77030, USA.; Lee B; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Texas Children's Hospital, Houston, TX 77030, USA.; Marom R; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Texas Children's Hospital, Houston, TX 77030, USA.; Nagamani SCS; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Texas Children's Hospital, Houston, TX 77030, USA. Electronic address: nagamani@bcm.edu.; Burrage LC; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Texas Children's Hospital, Houston, TX 77030, USA. Electronic address: burrage@bcm.edu.

Publisher: Elsevier Inc Country of Publication: United States NLM ID: 101772885 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2666-2477 (Electronic) Linking ISSN: 26662477 NLM ISO Abbreviation: HGG Adv Subsets: MEDLINE

Folkestad L; Department of Endocrinology, Odense University Hospital, 5000 Odense, Denmark.; Department of Clinical Research, University of Southern Denmark, 5000 Odense, Denmark.; Prakash SK; Department of Internal Medicine, John P and Kathrine G McGovern Medical School, University of Texas Health Science Center at Houston, Houston, 77030 TX, United States.; Nagamani SCS; Molecular and Human Genetics and Medicine, Baylor College of Medicine and Texas Children's Hospital, Houston TX, TX 77030, United States.; Andersen NH; Department of Cardiology, Aalborg University Hospital, 9000 Aalborg, Denmark.; Carter E; Kathryn O. & Alan C. Greenberg Center for Skeletal Dysplasias, Hospital for Special Surgery, New York, 10021 NY, United States.; Hald JD; Department of Endocrinology and Internal Medicine, Aarhus University Hospital, 8200 Aarhus, Denmark.; Centre for Rare Diseases, Pediatric and Adolescent Medicine, Aarhus University Hospital, 8200 Aarhus, Denmark.; Johnson RJ; Department of Medicine, Oregon Health and Science University, Portland, 97239 OR, United States.; Langdahl B; Department of Endocrinology and Internal Medicine, Aarhus University Hospital, 8200 Aarhus, Denmark.; Department of Clinical Medicine, Aarhus University, 8200 Aarhus, Denmark.; Perfetto EM; Practice, Science, and Health Outcomes Research, University of Maryland School of Pharmacy, Baltimore, 21201 MD, United States.; Raggio C; Kathryn O. & Alan C. Greenberg Center for Skeletal Dysplasias, Hospital for Special Surgery, New York, 10021 NY, United States.; Ralston SH; Centre for Genomic and Experimental Medicine, Institute of Genetics and Cancer, Western General Hospital, University of Edinburgh, Edinburgh EH 2XU, United Kingdom.; Sandhaus RA; National Jewish Health, Denver, 80206 CO, United States.; Alpha-1 Foundation and AlphaNet, Coral Gables, 33134 FL, United States.; Semler O; Department of Pediatrics, Faculty of Medicine at the University of Cologne, University Hospital Cologne, 50937 Cologne, Germany.; Tosi L; Division of Orthopedics and Sports Medicine, Children's National Hospital and George Washington University School of Medicine and Health Sciences, Washington, 20010 DC, United States.; Orwoll E; Department of Medicine, Oregon Health and Science University, Portland, 97239 OR, United States.

Publisher: Oxford University Press Country of Publication: England NLM ID: 8610640 Publication Model: Print Cited Medium: Internet ISSN: 1523-4681 (Electronic) Linking ISSN: 08840431 NLM ISO Abbreviation: J Bone Miner Res Subsets: MEDLINE

Hald JD; Department of Endocrinology and Internal Medicine, Aarhus University Hospital, Aarhus, Denmark. jannie.hald@midt.rm.dk.; Centre for Rare Diseases, Pediatric and Adolescent Medicine, Aarhus University Hospital, Aarhus, Denmark. jannie.hald@midt.rm.dk.; Langdahl B; Department of Endocrinology and Internal Medicine, Aarhus University Hospital, Aarhus, Denmark.; Department of Clinical Medicine, Aarhus University, Aarhus, Denmark.; Folkestad L; Bone and Mineral Unit, Department of Endocrinology, Odense University Hospital, Odense, Denmark.; Department of Clinical Research, University of Southern Denmark, Odense, Denmark.; Wekre LL; TRS National Resource Center for Rare Disorders, Sunnaas Rehabilitation Hospital, Oslo, Norway.; Johnson R; Bone and Mineral Research Unit, Department of Medicine, Oregon Health & Science University, Portland, USA.; Nagamani SCS; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA.; Texas Children's Hospital, Houston, TX, 77030, USA.; Raggio C; Department of Orthopedics, Hospital for Special Surgery, New York, NY, USA.; Ralston SH; Centre for Genomic and Experimental Medicine, Institute of Genetics and Cancer, Western General Hospital, University of Edinburgh, Edinburgh, EH 2XU, UK.; Semler O; Department of Pediatrics, Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne, Germany.; Tosi L; Division of Orthopaedics & Sports Medicine, Children's National Hospital, Washington, DC, 20010, USA.; Orwoll E; Bone and Mineral Research Unit, Department of Medicine, Oregon Health & Science University, Portland, USA.

Publisher: Springer Verlag Country of Publication: United States NLM ID: 7905481 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1432-0827 (Electronic) Linking ISSN: 0171967X NLM ISO Abbreviation: Calcif Tissue Int Subsets: MEDLINE

Sekhar, Ch. Chandra; Nagamani, C.; Saravana Ilango, G.; Mageshwari, S.

2022 IEEE International Conference on Power Electronics, Drives and Energy Systems (PEDES) Power Electronics, Drives and Energy Systems (PEDES), 2022 IEEE International Conference on. :1-6 Dec, 2022

Busse E; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Medical Scientist Training Program, Baylor College of Medicine, Houston, TX, USA.; Lee B; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA. blee@bcm.edu.; Texas Children's Hospital, Houston, TX, USA. blee@bcm.edu.; Nagamani SCS; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Texas Children's Hospital, Houston, TX, USA.

Publisher: Current Science Country of Publication: United States NLM ID: 101176492 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1544-2241 (Electronic) Linking ISSN: 15441873 NLM ISO Abbreviation: Curr Osteoporos Rep Subsets: MEDLINE

Liu W; Department of Medicine, Division of Endocrinology, Diabetes & Clinical Nutrition, Oregon Health & Science University, Portland, OR 97239, USA.; Lee B; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.; Texas Children's Hospital, Houston, TX 77030, USA.; Nagamani SCS; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.; Texas Children's Hospital, Houston, TX 77030, USA.; Nicol L; Department of Pediatrics, Division of Endocrinology, Oregon Health & Science University, Portland, OR 97239, USA.; Rauch F; Shriners Hospital for Children, Montreal, Quebec H3G 1A6, Canada.; Rush ET; Children's Mercy Hospital, University of Missouri-Kansas City, Kansas City, MO 64108, USA.; Sutton VR; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.; Texas Children's Hospital, Houston, TX 77030, USA.; Orwoll E; Department of Medicine, Division of Endocrinology, Diabetes & Clinical Nutrition, Oregon Health & Science University, Portland, OR 97239, USA.

Publisher: Oxford University Press Country of Publication: United States NLM ID: 0375362 Publication Model: Print Cited Medium: Internet ISSN: 1945-7197 (Electronic) Linking ISSN: 0021972X NLM ISO Abbreviation: J Clin Endocrinol Metab Subsets: MEDLINE

Lerner S; Department of Biological Regulation, Weizmann Institute of Science, Rehovot, Israel.; Eilam R; Department of Veterinary Resources, Weizmann Institute of Science, Rehovot, Israel.; Adler L; Department of Biological Regulation, Weizmann Institute of Science, Rehovot, Israel.; Baruteau J; Great Ormond Street Institute of Child Health, and NIHR Great Ormond Street Hospital Biomedical Research Centre, University College London, London, UK.; Great Ormond Street Hospital for Children, NHS Foundation Trust, London, UK.; Kreiser T; The Shmunis School of Biomedicine and Cancer Research, George S. Wise Faculty of Life Sciences, Tel Aviv University, 6997801, Tel Aviv, Israel.; Tsoory M; Department of Veterinary Resources, Weizmann Institute of Science, Rehovot, Israel.; Brandis A; Life Science Core Facility, Weizmann Institute of Science, Rehovot, Israel.; Mehlman T; Life Science Core Facility, Weizmann Institute of Science, Rehovot, Israel.; Ryten M; Great Ormond Street Institute of Child Health, and NIHR Great Ormond Street Hospital Biomedical Research Centre, University College London, London, UK.; Institute of Neurology, University College London (UCL), London, UK.; Botia JA; Institute of Neurology, University College London (UCL), London, UK.; Department of Information and Communications Engineering, University of Murcia, Murcia, Spain.; Ruiz SG; Great Ormond Street Institute of Child Health, and NIHR Great Ormond Street Hospital Biomedical Research Centre, University College London, London, UK.; Institute of Neurology, University College London (UCL), London, UK.; Garcia AC; Department of Information and Communications Engineering, University of Murcia, Murcia, Spain.; Dionisi-Vici C; Division of Metabolism, Bambino Gesù Children's Hospital IRCCS, Rome, Italy.; Ranucci G; Division of Metabolism, Bambino Gesù Children's Hospital IRCCS, Rome, Italy.; Spada M; Division of Metabolism, Bambino Gesù Children's Hospital IRCCS, Rome, Italy.; Mazkereth R; The Sackler School of Medicine, Tel-Aviv University, Tel-Aviv, Israel.; McCarter R; Center for Translational Sciences, Children's National Health System, The George Washington University, Washington, D.C., USA.; Children's National Medical Center, Washington, D.C., USA.; Izem R; Center for Translational Sciences, Children's National Health System, The George Washington University, Washington, D.C., USA.; Children's National Medical Center, Washington, D.C., USA.; Balmat TJ; Research Computing, Duke University, Durham, NC, USA.; Richesson R; Learning Health Sciences, University of Michigan, Ann Arbor, MI, USA.; Gazit E; The Shmunis School of Biomedicine and Cancer Research, George S. Wise Faculty of Life Sciences, Tel Aviv University, 6997801, Tel Aviv, Israel.; Nagamani SCS; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Texas Children's Hospital, Houston, TX, USA.; Erez A; Department of Biological Regulation, Weizmann Institute of Science, Rehovot, Israel. ayelet.erez@weizmann.ac.il.

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

Rodriguez Celin M; Orthopaedic Surgery, Medical College of Wisconsin, Milwaukee, Wisconsin, USA.; Motion Analysis Laboratory, Shriners Hospitals for Children, Chicago, Illinois, USA.; Orthopaedic and Rehabilitation Engineering Center, Marquette University, Milwaukee, Wisconsin, USA.; Kruger KM; Motion Analysis Laboratory, Shriners Hospitals for Children, Chicago, Illinois, USA.; Orthopaedic and Rehabilitation Engineering Center, Marquette University, Milwaukee, Wisconsin, USA.; Caudill A; Motion Analysis Laboratory, Shriners Hospitals for Children, Chicago, Illinois, USA.; Murali CN; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Nagamani SCS; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Smith PA; Motion Analysis Laboratory, Shriners Hospitals for Children, Chicago, Illinois, USA.; Harris GF; Orthopaedic Surgery, Medical College of Wisconsin, Milwaukee, Wisconsin, USA.; Motion Analysis Laboratory, Shriners Hospitals for Children, Chicago, Illinois, USA.; Orthopaedic and Rehabilitation Engineering Center, Marquette University, Milwaukee, Wisconsin, USA.

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

Chanvanichtrakool M; Faculty of Medicine Siriraj Hospital, Division of Neurology, Department of Pediatrics, Mahidol University, Bangkok, Thailand; Division of Neurogenetics & Developmental Pediatrics, Center for Neuroscience and Behavioral Medicine, Children's National Medical Center, Washington, District of Columbia.; Schreiber JM; Division of Neurogenetics & Developmental Pediatrics, Center for Neuroscience and Behavioral Medicine, Children's National Medical Center, Washington, District of Columbia.; Chen WL; Division of Neurogenetics & Developmental Pediatrics, Center for Neuroscience and Behavioral Medicine, Children's National Medical Center, Washington, District of Columbia.; Barber J; Division of Biostatistics and Study Methodology, Children's National Medical Center, Washington, District of Columbia.; Zhang A; Division of Biostatistics and Study Methodology, Children's National Medical Center, Washington, District of Columbia.; Ah Mew N; Division of Genetics & Metabolism, Children's National Hospital, Washington, District of Columbia.; Schulze A; Genetics and Genome Biology, The Hospital for Sick Children, Toronto, Canada; Departments of Pediatrics and Biochemistry, University of Toronto, Toronto, Canada.; Wilkening G; Department of Pediatrics, Children's Hospital Colorado, University of Colorado, Aurora, Colorado.; Nagamani SCS; Department of Molecular and Human Genetics, Baylor College of Medicine, Texas Children's Hospital, Houston, Texas.; Gropman A; Division of Neurogenetics & Developmental Pediatrics, Center for Neuroscience and Behavioral Medicine, Children's National Medical Center, Washington, District of Columbia. Electronic address: agropman@childrensnational.org.

Publisher: Elsevier Science Publishing Country of Publication: United States NLM ID: 8508183 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1873-5150 (Electronic) Linking ISSN: 08878994 NLM ISO Abbreviation: Pediatr Neurol Subsets: MEDLINE

Zielonka M; Heidelberg University, Medical Faculty Heidelberg, and Center for Pediatric and Adolescent Medicine, Department I, Division of Pediatric Neurology and Metabolic Medicine, University Hospital Heidelberg, Im Neuenheimer Feld 430, 69120 Heidelberg, Germany. Electronic address: Matthias.Zielonka@med.uni-heidelberg.de.; Kölker S; Heidelberg University, Medical Faculty Heidelberg, and Center for Pediatric and Adolescent Medicine, Department I, Division of Pediatric Neurology and Metabolic Medicine, University Hospital Heidelberg, Im Neuenheimer Feld 430, 69120 Heidelberg, Germany.; Garbade SF; Heidelberg University, Medical Faculty Heidelberg, and Center for Pediatric and Adolescent Medicine, Department I, Division of Pediatric Neurology and Metabolic Medicine, University Hospital Heidelberg, Im Neuenheimer Feld 430, 69120 Heidelberg, Germany.; Gleich F; Heidelberg University, Medical Faculty Heidelberg, and Center for Pediatric and Adolescent Medicine, Department I, Division of Pediatric Neurology and Metabolic Medicine, University Hospital Heidelberg, Im Neuenheimer Feld 430, 69120 Heidelberg, Germany.; Nagamani SCS; Department of Molecular and Human Genetics, Baylor College of Medicine and Texas Children's Hospital, Houston, TX, USA.; Gropman AL; Children's National Health System and The George Washington School of Medicine, Washington, DC, USA.; Druck AC; Heidelberg University, Medical Faculty Heidelberg, and Center for Pediatric and Adolescent Medicine, Department I, Division of Pediatric Neurology and Metabolic Medicine, University Hospital Heidelberg, Im Neuenheimer Feld 430, 69120 Heidelberg, Germany.; Ramdhouni N; Heidelberg University, Medical Faculty Heidelberg, and Center for Pediatric and Adolescent Medicine, Department I, Division of Pediatric Neurology and Metabolic Medicine, University Hospital Heidelberg, Im Neuenheimer Feld 430, 69120 Heidelberg, Germany.; Göde L; Heidelberg University, Medical Faculty Heidelberg, and Center for Pediatric and Adolescent Medicine, Department I, Division of Pediatric Neurology and Metabolic Medicine, University Hospital Heidelberg, Im Neuenheimer Feld 430, 69120 Heidelberg, Germany.; Hoffmann GF; Heidelberg University, Medical Faculty Heidelberg, and Center for Pediatric and Adolescent Medicine, Department I, Division of Pediatric Neurology and Metabolic Medicine, University Hospital Heidelberg, Im Neuenheimer Feld 430, 69120 Heidelberg, Germany.; Posset R; Heidelberg University, Medical Faculty Heidelberg, and Center for Pediatric and Adolescent Medicine, Department I, Division of Pediatric Neurology and Metabolic Medicine, University Hospital Heidelberg, Im Neuenheimer Feld 430, 69120 Heidelberg, Germany. Electronic address: Roland.Posset@med.uni-heidelberg.de.

Publisher: Academic Press Country of Publication: United States NLM ID: 9805456 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1096-7206 (Electronic) Linking ISSN: 10967192 NLM ISO Abbreviation: Mol Genet Metab Subsets: MEDLINE

Vuocolo B; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX.; German RJ; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX.; Lalani SR; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX.; Murali CN; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX.; Bacino CA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX.; Baskin S; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX; Department of Pediatrics, Baylor College of Medicine, San Antonio, TX.; Littlejohn R; Department of Pediatrics, Baylor College of Medicine, San Antonio, TX.; Odom JD; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX; Department of Pediatrics, Baylor College of Medicine, San Antonio, TX.; McLean S; Department of Pediatrics, Baylor College of Medicine, San Antonio, TX.; Schmid C; Department of Pediatrics, Baylor College of Medicine, San Antonio, TX.; Nutter M; Department of Pediatrics, Baylor College of Medicine, San Antonio, TX.; Stuebben M; Department of Pediatrics, Baylor College of Medicine, San Antonio, TX.; Magness E; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX.; Juarez O; Department of Pediatrics, Baylor College of Medicine, San Antonio, TX.; El Achi D; Department of Pediatrics, Baylor College of Medicine, San Antonio, TX.; Mitchell B; Department of Pediatrics, Baylor College of Medicine, San Antonio, TX.; Glinton KE; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX.; Robak L; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX.; Nagamani SCS; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX; Texas Children's Hospital Department of Pathology, Houston, TX.; Saba L; Texas Children's Hospital Department of Pathology, Houston, TX.; Ritenour A; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX.; Zhang L; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX.; Streff H; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX; Texas Children's Hospital Department of Pathology, Houston, TX.; Chan K; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX.; Kemere KJ; Department of Internal Medicine, Section Transition Medicine, Baylor College of Medicine and Texas Children's Hospital, Houston, TX.; Carter K; Department of Pediatrics, University of Texas Rio Grande Valley, Harlingen, TX.; Owen N; Baylor Genetics Laboratories, Houston, TX.; Vossaert L; Baylor Genetics Laboratories, Houston, TX.; Liu P; Baylor Genetics Laboratories, Houston, TX.; Bellen H; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX.; Wangler MF; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX. Electronic address: mw147467@bcm.edu.

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

Posset R; Heidelberg University, Medical Faculty Heidelberg, and Center for Pediatric and Adolescent Medicine, Department I, Division of Pediatric Neurology and Metabolic Medicine, University Hospital Heidelberg, Heidelberg, Germany. Electronic address: roland.posset@med.uni-heidelberg.de.; Garbade SF; Heidelberg University, Medical Faculty Heidelberg, and Center for Pediatric and Adolescent Medicine, Department I, Division of Pediatric Neurology and Metabolic Medicine, University Hospital Heidelberg, Heidelberg, Germany.; Gleich F; Heidelberg University, Medical Faculty Heidelberg, and Center for Pediatric and Adolescent Medicine, Department I, Division of Pediatric Neurology and Metabolic Medicine, University Hospital Heidelberg, Heidelberg, Germany.; Scharre S; Heidelberg University, Medical Faculty Heidelberg, and Center for Pediatric and Adolescent Medicine, Department I, Division of Pediatric Neurology and Metabolic Medicine, University Hospital Heidelberg, Heidelberg, Germany.; Okun JG; Heidelberg University, Medical Faculty Heidelberg, and Center for Pediatric and Adolescent Medicine, Department I, Division of Pediatric Neurology and Metabolic Medicine, University Hospital Heidelberg, Heidelberg, Germany.; Gropman AL; Children's National Health System and The George Washington School of Medicine, Washington, DC.; Nagamani SCS; Department of Molecular and Human Genetics, Baylor College of Medicine and Texas Children's Hospital, Houston, TX.; Druck AC; Heidelberg University, Medical Faculty Heidelberg, and Center for Pediatric and Adolescent Medicine, Department I, Division of Pediatric Neurology and Metabolic Medicine, University Hospital Heidelberg, Heidelberg, Germany.; Epp F; Heidelberg University, Medical Faculty Heidelberg, and Center for Pediatric and Adolescent Medicine, Department I, Division of Pediatric Neurology and Metabolic Medicine, University Hospital Heidelberg, Heidelberg, Germany.; Hoffmann GF; Heidelberg University, Medical Faculty Heidelberg, and Center for Pediatric and Adolescent Medicine, Department I, Division of Pediatric Neurology and Metabolic Medicine, University Hospital Heidelberg, Heidelberg, Germany.; Kölker S; Heidelberg University, Medical Faculty Heidelberg, and Center for Pediatric and Adolescent Medicine, Department I, Division of Pediatric Neurology and Metabolic Medicine, University Hospital Heidelberg, Heidelberg, Germany.; Zielonka M; Heidelberg University, Medical Faculty Heidelberg, and Center for Pediatric and Adolescent Medicine, Department I, Division of Pediatric Neurology and Metabolic Medicine, University Hospital Heidelberg, Heidelberg, Germany. Electronic address: matthias.zielonka@med.uni-heidelberg.de.

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

Rao, Rashmi ; Cuthbertson, David ; Nagamani, Sandesh C.S. ; Sutton, Vernon Reid ; Lee, Brendan H. ; Krischer, Jeffrey ; Krakow, Deborah

In American Journal of Obstetrics & Gynecology MFM July 2021 3(4)

Posset R; Heidelberg University, Medical Faculty Heidelberg, and Center for Pediatric and Adolescent Medicine, Department I, Division of Pediatric Neurology and Metabolic Medicine, University Hospital Heidelberg, Im Neuenheimer Feld 430, 69120 Heidelberg, Germany. Electronic address: Roland.Posset@med.uni-heidelberg.de.; Garbade SF; Heidelberg University, Medical Faculty Heidelberg, and Center for Pediatric and Adolescent Medicine, Department I, Division of Pediatric Neurology and Metabolic Medicine, University Hospital Heidelberg, Im Neuenheimer Feld 430, 69120 Heidelberg, Germany.; Gleich F; Heidelberg University, Medical Faculty Heidelberg, and Center for Pediatric and Adolescent Medicine, Department I, Division of Pediatric Neurology and Metabolic Medicine, University Hospital Heidelberg, Im Neuenheimer Feld 430, 69120 Heidelberg, Germany.; Nagamani SCS; Department of Molecular and Human Genetics, Baylor College of Medicine and Texas Children's Hospital, Houston, TX, USA.; Gropman AL; Children's National Health System and The George Washington School of Medicine, Washington, DC, USA.; Epp F; Heidelberg University, Medical Faculty Heidelberg, and Center for Pediatric and Adolescent Medicine, Department I, Division of Pediatric Neurology and Metabolic Medicine, University Hospital Heidelberg, Im Neuenheimer Feld 430, 69120 Heidelberg, Germany.; Ramdhouni N; Heidelberg University, Medical Faculty Heidelberg, and Center for Pediatric and Adolescent Medicine, Department I, Division of Pediatric Neurology and Metabolic Medicine, University Hospital Heidelberg, Im Neuenheimer Feld 430, 69120 Heidelberg, Germany.; Druck AC; Heidelberg University, Medical Faculty Heidelberg, and Center for Pediatric and Adolescent Medicine, Department I, Division of Pediatric Neurology and Metabolic Medicine, University Hospital Heidelberg, Im Neuenheimer Feld 430, 69120 Heidelberg, Germany.; Hoffmann GF; Heidelberg University, Medical Faculty Heidelberg, and Center for Pediatric and Adolescent Medicine, Department I, Division of Pediatric Neurology and Metabolic Medicine, University Hospital Heidelberg, Im Neuenheimer Feld 430, 69120 Heidelberg, Germany.; Kölker S; Heidelberg University, Medical Faculty Heidelberg, and Center for Pediatric and Adolescent Medicine, Department I, Division of Pediatric Neurology and Metabolic Medicine, University Hospital Heidelberg, Im Neuenheimer Feld 430, 69120 Heidelberg, Germany.; Zielonka M; Heidelberg University, Medical Faculty Heidelberg, and Center for Pediatric and Adolescent Medicine, Department I, Division of Pediatric Neurology and Metabolic Medicine, University Hospital Heidelberg, Im Neuenheimer Feld 430, 69120 Heidelberg, Germany. Electronic address: Matthias.Zielonka@med.uni-heidelberg.de.

Publisher: Academic Press Country of Publication: United States NLM ID: 9805456 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1096-7206 (Electronic) Linking ISSN: 10967192 NLM ISO Abbreviation: Mol Genet Metab Subsets: MEDLINE

Murali CN; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Texas Children's Hospital, Houston, Texas, USA.; Slater B; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Musaad S; Department of Pediatrics-Nutrition, Baylor College of Medicine, Houston, Texas, USA.; Children's Nutrition Research Center, United States Department of Agriculture/Agricultural Research Service, Houston, Texas, USA.; Cuthbertson D; College of Medicine, University of South Florida, Tampa, Florida, USA.; Nguyen D; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Turner A; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Azamian M; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Tosi L; Bone Health Program, Children's National Health System, Washington D.C., Washington, USA.; Rauch F; Shriner's Hospital of Children, McGill University, Montreal, Quebec, Canada.; Sutton VR; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Texas Children's Hospital, Houston, Texas, USA.; Lee B; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Texas Children's Hospital, Houston, Texas, USA.; Nagamani SCS; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Texas Children's Hospital, Houston, Texas, USA.

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

Glinton KE; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA; Texas Children's Hospital, Houston, TX, USA. Electronic address: Kevin.Glinton@bcm.edu.; Minard CG; Institute for Clinical and Translational Research, Baylor College of Medicine, Houston, TX, USA.; Liu N; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA; Baylor Genetics, Houston, TX, USA.; Sun Q; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA; Baylor Genetics, Houston, TX, USA.; Elsea SH; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Burrage LC; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA; Texas Children's Hospital, Houston, TX, USA.; Nagamani SCS; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA; Texas Children's Hospital, Houston, TX, USA.

Publisher: Academic Press Country of Publication: United States NLM ID: 9805456 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1096-7206 (Electronic) Linking ISSN: 10967192 NLM ISO Abbreviation: Mol Genet Metab Subsets: MEDLINE

Murali CN; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA; Texas Children's Hospital, Houston, TX, USA.; Barber JR; Children's National Health System, Washington, DC, USA.; McCarter R; Children's National Health System, Washington, DC, USA.; Zhang A; Children's National Health System, Washington, DC, USA.; Gallant N; Department of Pediatrics, University of California Irvine, Irvine, CA, USA.; Simpson K; Children's National Health System, Washington, DC, USA.; Dorrani N; Department of Human Genetics, University of California Los Angeles, Los Angeles, CA, USA.; Wilkening GN; Department of Neuroscience, University of Colorado, Aurora, CO, USA.; Hays RD; Department of Medicine, University of California Los Angeles, Los Angeles, CA, USA.; Lichter-Konecki U; Department of Pediatrics, University of Pittsburgh School of Medicine, Pittsburgh, PA, USA.; Burrage LC; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA; Texas Children's Hospital, Houston, TX, USA.; Nagamani SCS; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA; Texas Children's Hospital, Houston, TX, USA. Electronic address: Nagamani@bcm.edu.

Publisher: Academic Press Country of Publication: United States NLM ID: 9805456 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1096-7206 (Electronic) Linking ISSN: 10967192 NLM ISO Abbreviation: Mol Genet Metab Subsets: MEDLINE

Zielonka M; Division of Pediatric Neurology and Metabolic Medicine, Center for Pediatric and Adolescent Medicine, University Hospital Heidelberg, Heidelberg, Germany.; Heidelberg Research Center for Molecular Medicine (HRCMM), Heidelberg, Germany.; Garbade SF; Division of Pediatric Neurology and Metabolic Medicine, Center for Pediatric and Adolescent Medicine, University Hospital Heidelberg, Heidelberg, Germany.; Gleich F; Division of Pediatric Neurology and Metabolic Medicine, Center for Pediatric and Adolescent Medicine, University Hospital Heidelberg, Heidelberg, Germany.; Okun JG; Division of Pediatric Neurology and Metabolic Medicine, Center for Pediatric and Adolescent Medicine, University Hospital Heidelberg, Heidelberg, Germany.; Nagamani SCS; Department of Molecular and Human Genetics, Baylor College of Medicine and Texas Children's Hospital, Houston, Texas.; Gropman AL; Division of Neurodevelopmental Pediatrics and Neurogenetics, Children's National Health System and The George Washington School of Medicine, Washington, District of Columbia.; Hoffmann GF; Division of Pediatric Neurology and Metabolic Medicine, Center for Pediatric and Adolescent Medicine, University Hospital Heidelberg, Heidelberg, Germany.; Kölker S; Division of Pediatric Neurology and Metabolic Medicine, Center for Pediatric and Adolescent Medicine, University Hospital Heidelberg, Heidelberg, Germany.; Posset R; Division of Pediatric Neurology and Metabolic Medicine, Center for Pediatric and Adolescent Medicine, University Hospital Heidelberg, Heidelberg, 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

Machol K; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.; Texas Children's Hospital, Houston, Texas.; Hadley TD; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.; Schmidt J; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.; Cuthbertson D; College of Medicine, University of South Florida, Tampa, Florida.; Traboulsi H; Department of Otolaryngology-Head and Neck Surgery, Baylor College of Medicine, Houston, Texas.; Texas Children's Hospital, Houston, Texas.; Silva RC; Department of Otolaryngology-Head and Neck Surgery, Baylor College of Medicine, Houston, Texas.; Texas Children's Hospital, Houston, Texas.; Citron C; Department of Pediatric Orthopedic Surgery, Hospital for Special Surgery, New York, New York.; Khan S; Department of Pediatric Orthopedic Surgery, Hospital for Special Surgery, New York, New York.; Citron K; Department of Pediatric Orthopedic Surgery, Hospital for Special Surgery, New York, New York.; Carter E; Department of Pediatric Orthopedic Surgery, Hospital for Special Surgery, New York, New York.; Brookler K; Department of Pediatric Orthopedic Surgery, Hospital for Special Surgery, New York, New York.; Shapiro JR; Department of Bone and Osteogenesis Imperfecta, Kennedy Krieger Institute, Baltimore, Maryland.; Department of Medicine at Uniformed Services, University of the Health Sciences, Bethesda, Maryland.; Steiner RD; University of Wisconsin School of Medicine and Public Health, Madison, Wisconsin.; Pediatrics and Molecular and Medical Genetics, Oregon Health & Science University, Portland, Oregon.; Byers PH; Department of Medicine, Division of Medical Genetics, University of Washington, Seattle.; Department of Pathology, Division of Medical Genetics, University of Washington, Seattle.; Glorieux FH; Shriner's Hospital for Children and McGill University, Montreal, Quebec, Canada.; Durigova M; Shriner's Hospital for Children and McGill University, Montreal, Quebec, Canada.; Smith P; Motion Analysis Laboratory, Shriners Hospitals for Children, Chicago, Illinois.; Bober MB; Division of Orthogenetics, Alfred I. duPont Hospital for Children, Wilmington, Delaware.; Sutton VR; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.; Texas Children's Hospital, Houston, Texas.; Lee BH; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.; Texas Children's Hospital, Houston, Texas.; Nagamani SCS; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.; Texas Children's Hospital, Houston, Texas.; Raggio C; Department of Pediatric Orthopedic Surgery, Hospital for Special Surgery, New York, New York.

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

Posset R; Center for Pediatric and Adolescent Medicine, Division of Pediatric Neurology and Metabolic Medicine, University Hospital Heidelberg, Heidelberg, Germany.; Gropman AL; Children's National Health System and George Washington School of Medicine, Washington, DC.; Nagamani SCS; Department of Molecular and Human Genetics, Baylor College of Medicine and Texas Children's Hospital, Houston, TX.; Burrage LC; Department of Molecular and Human Genetics, Baylor College of Medicine and Texas Children's Hospital, Houston, TX.; Bedoyan JK; Center for Human Genetics and Department of Genetics and Genome Sciences, University Hospitals Cleveland Medical Center and Case Western Reserve University, Cleveland, OH.; Wong D; David Geffen School of Medicine at University of California, Los Angeles, Los Angeles, CA.; Berry GT; Harvard Medical School and Boston Children's Hospital, Boston, MA.; Baumgartner MR; University Children's Hospital Zurich and Children's Research Center, Zurich, Switzerland.; Yudkoff M; University of Pennsylvania School of Medicine and Children's Hospital of Philadelphia, Philadelphia, PA.; Zielonka M; Center for Pediatric and Adolescent Medicine, Division of Pediatric Neurology and Metabolic Medicine, University Hospital Heidelberg, Heidelberg, Germany.; Heidelberg Research Center for Molecular Medicine, Heidelberg, Germany.; Hoffmann GF; Center for Pediatric and Adolescent Medicine, Division of Pediatric Neurology and Metabolic Medicine, University Hospital Heidelberg, Heidelberg, Germany.; Burgard P; Center for Pediatric and Adolescent Medicine, Division of Pediatric Neurology and Metabolic Medicine, University Hospital Heidelberg, Heidelberg, Germany.; Schulze A; Hospital for Sick Children and University of Toronto, Toronto, Ontario, Canada.; McCandless SE; Children's Hospital Colorado and University of Colorado, School of Medicine, Aurora, CO.; Garcia-Cazorla A; Hospital San Joan de Deu, Institut Pediàtric de Recerca. Servicio de Neurologia and CIBERER, ISCIII, Barcelona, Spain.; Seminara J; Children's National Health System and George Washington School of Medicine, Washington, DC.; Garbade SF; Center for Pediatric and Adolescent Medicine, Division of Pediatric Neurology and Metabolic Medicine, University Hospital Heidelberg, Heidelberg, Germany.; Kölker S; Center for Pediatric and Adolescent Medicine, Division of Pediatric Neurology and Metabolic Medicine, University Hospital Heidelberg, Heidelberg, Germany.

Publisher: Wiley-Liss Country of Publication: United States NLM ID: 7707449 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1531-8249 (Electronic) Linking ISSN: 03645134 NLM ISO Abbreviation: Ann Neurol Subsets: MEDLINE