부산대학교 도서관

Novak P; Department of Neurology, Brigham and Women's Hospital, Boston, Massachusetts, United States of America.; Harvard University, Boston, Massachusetts, United States of America.; Systrom DM; Harvard University, Boston, Massachusetts, United States of America.; Department of Medicine, Pulmonary and Critical Care, Brigham and Women's Hospital, Boston, Massachusetts, United States of America.; Witte A; Department of Neurology, Brigham and Women's Hospital, Boston, Massachusetts, United States of America.; Marciano SP; Department of Neurology, Brigham and Women's Hospital, Boston, Massachusetts, United States of America.; Felsenstein D; Harvard University, Boston, Massachusetts, United States of America.; Department of Infectious Diseases and Medicine, Mass General Brigham, Boston, Massachusetts, United States of America.; Milunsky JM; Center for Genetics, Cambridge, Massachusetts, United States of America.; Milunsky A; Center for Genetics, Cambridge, Massachusetts, United States of America.; Krier J; Atrius Health, Boston, Massachusetts, United States of America.; Fishman MC; Harvard University, Boston, Massachusetts, United States of America.; Department of Stem Cell and Regenerative Biology, Boston Massachusetts, United States of America.

Publisher: Public Library of Science Country of Publication: United States NLM ID: 101285081 Publication Model: eCollection Cited Medium: Internet ISSN: 1932-6203 (Electronic) Linking ISSN: 19326203 NLM ISO Abbreviation: PLoS One Subsets: MEDLINE

Milunsky A; Center for Human Genetics, Inc., Cambridge, Massachusetts, USA.; Milunsky JM; Center for Human Genetics, Inc., Cambridge, Massachusetts, USA.; Hsu R; Department of Surgery, Stamford General Hospital, Connecticut, 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

Novak P; Department of Neurology, Mass General Brigham, Boston, Mass.; Harvard University, Boston, Mass.; Systrom DM; Department of Medicine, Pulmonary and Critical Care, Mass General Brigham, Boston, Mass.; Harvard University, Boston, Mass.; Marciano SP; Department of Neurology, Mass General Brigham, Boston, Mass.; Witte A; Department of Neurology, Mass General Brigham, Boston, Mass.; Warren A; Department of Medicine, Pulmonary and Critical Care, Mass General Brigham, Boston, Mass.; Harvard University, Boston, Mass.; Felsenstein D; Department of Infectious Diseases and Medicine, Mass General Brigham, Boston Mass.; Harvard University, Boston, Mass.; Giannetti MP; Department of Medicine, Pulmonary and Critical Care, Mass General Brigham, Boston, Mass.; Harvard University, Boston, Mass.; Hamilton MJ; Department of Medicine, Mastocytosis Center, Mass General Brigham, Boston, Mass eDepartment of Psychiatry, Mass General Brigham, Boston, Mass.; Harvard University, Boston, Mass.; Nicoloro-SantaBarbara J; Department of Psychiatry, Mass General Brigham, Mass.; Harvard University, Boston, Mass.; Castells M; Department of Medicine, Mastocytosis Center, Mass General Brigham, Boston, Mass eDepartment of Psychiatry, Mass General Brigham, Boston, Mass.; Harvard University, Boston, Mass.; Farhad K; Department of Neurology, Mass General Brigham, Boston, Mass.; Harvard University, Boston, Mass.; Pilgrim DM; Department of Neurology, Mass General Brigham, Boston, Mass.; Harvard University, Boston, Mass.; Mullally WJ; Department of Neurology, Mass General Brigham, Boston, Mass.; Harvard University, Boston, Mass.; Fishman MC; Atrius Health Inc, Harvard Department of Stem Cell and Regenerative Biology, Boston, Mass.; Harvard University, Boston, Mass.; Milunsky JM; Center for Human Genetics, Cambridge, Mass.; Milunsky A; Center for Human Genetics, Cambridge, Mass.; Krier J; Medical Genetics, Pediatrics, Atrius Health, Boston, Mass.

Publisher: Elsevier Inc Country of Publication: United States NLM ID: 9918316788906676 Publication Model: eCollection Cited Medium: Internet ISSN: 2667-0364 (Electronic) Linking ISSN: 26670364 NLM ISO Abbreviation: Am J Med Open Subsets: PubMed not MEDLINE

Milunsky, JM; Zhao, G.; Maher, TA; Colby, R.; Everman, DB

Clinical Genetics. April, 2006, Vol. 69 Issue 4, p349, 6 p.

Milunsky A; Center for Human Genetics, 840 Memorial Dr, Ste 101, Cambridge, MA, 02139, USA. amilunsky@chginc.org.; Department of Obstetrics and Gynecology, Tufts University School of Medicine, Boston, MA, USA. amilunsky@chginc.org.; Milunsky JM; Center for Human Genetics, 840 Memorial Dr, Ste 101, Cambridge, MA, 02139, USA.; Department of Obstetrics and Gynecology, Tufts University School of Medicine, Boston, MA, USA.; Dong W; Department of Human Genetics, Yale University School of Medicine, New Haven, CT, USA.; Hovhannisyan H; Center for Human Genetics, 840 Memorial Dr, Ste 101, Cambridge, MA, 02139, USA.; Oates RD; Department of Urology, Boston Medical Center and Boston University School of Medicine, Boston, MA, USA.

Publisher: Springer Country of Publication: Netherlands NLM ID: 9206495 Publication Model: Print Cited Medium: Internet ISSN: 1573-7330 (Electronic) Linking ISSN: 10580468 NLM ISO Abbreviation: J Assist Reprod Genet Subsets: MEDLINE; PubMed not MEDLINE

van der Sluijs PJ; Department of Clinical Genetics, Leiden University Medical Center, Leiden, the Netherlands.; Gösgens M; Department of Clinical Genetics, Leiden University Medical Center, Leiden, the Netherlands.; Dingemans AJM; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, the Netherlands.; Striano P; Pediatric Neurology and Muscular Diseases Unit, IRCCS Istituto Giannina Gaslini, Genova, Italy.; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genova, Genova, Italy.; Riva A; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genova, Genova, Italy.; IRCCS Istituto Giannina Gaslini, Genova, Italy.; Mignot C; Service de génétique médicale, APHP Pitié-Salpêtrière, Paris, France.; Faudet A; Département de Génétique, Assistance publique - Hôpitaux de Paris Sorbonne Université, Hôpital Pitié-Salpêtrière et Trousseau, Paris, France.; Vasileiou G; Institute of Human Genetics, Universitätsklinikum Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg, 91054 Erlangen, Germany.; Centre for Rare Diseases Erlangen (ZSEER), Erlangen, Germany.; Walther M; Institute of Human Genetics, Universitätsklinikum Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg, 91054 Erlangen, Germany.; Schrier Vergano SA; Children's Hospital of The King's Daughters, Norfolk, VA.; Department of Pediatrics, Eastern Virginia Medical School, Norfolk, VA.; Alders M; Section Clinical Genetics, Department of Human Genetics, Amsterdam University Medical Centers, Amsterdam, the Netherlands.; Alkuraya FS; Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.; Department of Anatomy and Cell Biology, College of Medicine, Alfaisal University, Riyadh, Saudi Arabia.; Alorainy I; Department of Radiology and Diagnostic Imaging, King Khalid University Hospital and College of Medicine, King Saud University, Riyadh, Saudi Arabia.; Alsaif HS; Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.; Centre of Excellence for Biomedicine, Joint Centers of Excellence Program, King Abdulaziz City for Science and Technology, Riyadh, Saudi Arabia.; Anderlid B; Clinical Genetics Karolinska Universitet Hospital and Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.; Bache I; Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark.; van Beek I; Section Clinical Genetics, Department of Human Genetics, Amsterdam University Medical Centers, Amsterdam, the Netherlands.; Blanluet M; Service de Génétique Oncologique, Institut Curie, Paris, France.; van Bon BW; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.; Brunet T; Institute of Human Genetics, Klinikum rechts der Isar, School of Medicine, Technical University of Munich, Munich, Germany.; Department of Pediatric Neurology and Developmental Medicine and LMU Center for Children with Medical Complexity, Dr. von Hauner Children's Hospital, LMU Hospital, Ludwig-Maximilians-University, D-80337 Munich, Germany.; Brunner H; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, the Netherlands.; Carriero ML; Medical Genetics, University of Siena, Siena, Italy.; Charles P; Service de génétique médicale, APHP Pitié-Salpêtrière, Paris, France.; Chatron N; Service de génétique, Hospices Civils de Lyon ERN ITHACA, INSERM U1028, CNRS UMR5292, Centre de Recherche en Neurosciences de Lyon, GENDEV Team, Université Claude Bernard Lyon 1, Bron, France.; Institut Neuromyogène, Laboratoire Physiopathologie et Génétique du Neurone et du Muscle, Equipe Métabolisme énergétique et développement neuronal, CNRS UMR 5310, INSERM U1217, Université Lyon 1, Lyon, France.; Coccia E; Department of Medical and Surgical Science, Postgraduate School of Medical Genetics, Alma Mater Studiorum University of Bologna, Bologna, Italy.; Dubourg C; Service de Génétique Moléculaire et Génomique Médicale, CHU de Rennes, Rennes, France.; Univ Rennes, CNRS, INSERM, IGDR (Institut de génétique et développement de Rennes) - UMR 6290, ERL U1305, RENNES, France.; Earl RK; Department of Psychiatry and Behavioral Sciences, University of Washington, Seattle, WA.; Eichler EE; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA.; Howard Hughes Medical Institute, University of Washington, School of Medicine, Seattle, WA.; Faivre L; Centre de Référence Anomalies du Développement et Syndromes Malformatifs, FHU TRANSLAD, CHU Dijon, Dijon, France.; Genetics of Developmental Disorders, INSERM - Bourgogne Franche-Comté University, UMR 1231 GAD Team, Dijon, France.; Foulds N; Wessex Clinical Genetics Service, University Hospital Southampton, Princess Anne Hospital, Southampton, United Kingdom.; Graziano C; Medical Genetics Unit, AUSL Romagna, Cesena, Italy.; Guerrot AM; Department of Genetics and reference Center for Developmental Disorders, Univ Rouen Normandie, Normandie Univ, Inserm U1245 and CHU Rouen, Rouen, France.; Hashem MO; Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.; Heide S; Département de Génétique, Assistance publique - Hôpitaux de Paris Sorbonne Université, Hôpital Pitié-Salpêtrière et Trousseau, Paris, France.; Heron D; Département de Génétique, Assistance publique - Hôpitaux de Paris Sorbonne Université, Hôpital Pitié-Salpêtrière et Trousseau, Paris, France.; Hickey SE; Division of Genetic & Genomic Medicine, Nationwide Children's Hospital, Columbus, OH.; Department of Pediatrics, The Ohio State University College of Medicine, Columbus, OH.; Hopman SMJ; Department of Genetics, University Medical Center Utrecht, Utrecht, the Netherlands.; Kattentidt-Mouravieva A; Stichting Zuidwester, Middelharnis, the Netherlands.; Kerkhof J; Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, ON, Canada.; Klein Wassink-Ruiter JS; Department of Genetics, University of Groningen, University Medical Center Groningen, the Netherlands.; Kurtz-Nelson EC; Department of Psychiatry and Behavioral Sciences, University of Washington, Seattle, WA.; Department of Pediatrics, Indiana University School of Medicine, Indianapolis, IN.; Kušíková K; Department of Pediatric Neurology, Faculty of Medicine, Comenius University and National Institute of Children's Diseases, Bratislava, Slovakia.; Kvarnung M; Clinical Genetics Karolinska Universitet Hospital and Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.; Lecoquierre F; Department of Genetics and reference Center for Developmental Disorders, Univ Rouen Normandie, Normandie Univ, Inserm U1245 and CHU Rouen, Rouen, France.; Leszinski GS; Institute of Human Genetics, Klinikum rechts der Isar, School of Medicine, Technical University of Munich, Munich, Germany.; Loberti L; Medical Genetics, University of Siena, Siena, Italy.; Department of Medical Biotechnologies, Med Biotech Hub and Competence Centre, University of Siena, Siena, Italy.; Magoulas PL; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX.; Mari F; Medical Genetics, University of Siena, Siena, Italy.; Maystadt I; Centre de Génétique Humaine, Institut de Pathologie et de Génétique, Gosselies, Belgium.; Merla G; Department of Molecular Medicine & Medical Biotechnology, University of Naples Federico II, Naples, Italy.; Laboratory of Regulatory & Functional Genomics, Fondazione IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo, Foggia, Italy.; Milunsky JM; Center for Human Genetics Inc, Cambridge, MA.; Moortgat S; Centre de Génétique Humaine, Institut de Pathologie et de Génétique, Gosselies, Belgium.; Nicolas G; Department of Genetics and reference Center for Developmental Disorders, Univ Rouen Normandie, Normandie Univ, Inserm U1245 and CHU Rouen, Rouen, France.; Leary MO'; Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard, Cambridge, MA.; Odent S; Univ Rennes, CNRS, INSERM, IGDR (Institut de génétique et développement de Rennes) - UMR 6290, ERL U1305, RENNES, France.; Centre de Référence Maladies Rares CLAD-Ouest, ERN-ITHACA, FHU GenOMedS, CHU de Rennes, RENNES, France.; Ozmore JR; Medical Genetics, Dartmouth Hitchcock Medical Center, Lebanon, NH.; Parbhoo K; Division of Genetic & Genomic Medicine, Nationwide Children's Hospital, Columbus, OH.; The Steve and Cindy Rasmussen Institute for Genomic Medicine at Nationwide Children's Hospital, Columbus, OH.; Pfundt R; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, the Netherlands.; Piccione M; Medical Genetics Unit, AOOR Villa Sofia-Cervello Hospitals, Palermo, Italy.; Department of Health Promotion, Mother and Child Care, Internal Medicine and Medical Specialties, University of Palermo, Palermo, Italy.; Pinto AM; Medical Genetics, University of Siena, Siena, Italy.; Popp B; Berlin Institute of Health at Charitè, Universitätsklinikum Berlin, Centre of Functional Genomics, Berlin, Germany.; Putoux A; Service de génétique, Hospices Civils de Lyon ERN ITHACA, INSERM U1028, CNRS UMR5292, Centre de Recherche en Neurosciences de Lyon, GENDEV Team, Université Claude Bernard Lyon 1, Bron, France.; Rehm HL; Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard, Cambridge, MA.; Reis A; Institute of Human Genetics, Universitätsklinikum Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg, 91054 Erlangen, Germany.; Centre for Rare Diseases Erlangen (ZSEER), Erlangen, Germany.; Renieri A; Medical Genetics, University of Siena, Siena, Italy.; Department of Medical Biotechnologies, Med Biotech Hub and Competence Centre, University of Siena, Siena, Italy.; Rosenfeld JA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX.; Baylor Genetics Laboratories, Houston, TX.; Rossi M; Service de génétique, Hospices Civils de Lyon ERN ITHACA, INSERM U1028, CNRS UMR5292, Centre de Recherche en Neurosciences de Lyon, GENDEV Team, Université Claude Bernard Lyon 1, Bron, France.; Salzano E; Medical Genetics Unit, AOOR Villa Sofia-Cervello Hospitals, Palermo, Italy.; Saugier-Veber P; Department of Genetics and reference Center for Developmental Disorders, Univ Rouen Normandie, Normandie Univ, Inserm U1245 and CHU Rouen, Rouen, France.; Seri M; Department of Medical and Surgical Science, Postgraduate School of Medical Genetics, Alma Mater Studiorum University of Bologna, Bologna, Italy.; Severi G; Department of Medical and Surgical Science, Postgraduate School of Medical Genetics, Alma Mater Studiorum University of Bologna, Bologna, Italy.; Sonmez FM; Department of Child Neurology, Karadeniz Technical University Faculty of Medicine, Retired Lecturer, Trabzon, Turkey.; Strobl-Wildemann G; MVZ Humangenetik Ulm, Ulm, Germany.; Stuurman KE; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, Rotterdam, the Netherlands.; Uctepe E; Acıbadem Labmed Ankara Tissue Typing Laboratory, Ankara, Turkey.; Van Esch H; Center for Human Genetics, University Hospitals Leuven, Leuven, Belgium.; Vitetta G; Department of Medical and Surgical Science, Postgraduate School of Medical Genetics, Alma Mater Studiorum University of Bologna, Bologna, Italy.; de Vries BBA; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, the Netherlands.; Wahl D; Department of Clinical Genetics, MVZ Martinsried, Munich, Germany.; Wang T; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA.; Department of Medical Genetics, Center for Medical Genetics, School of Basic Medical Sciences, Peking University, Beijing, China.; Neuroscience Research Institute, Peking University Key Laboratory for Neuroscience, Ministry of Education of China & National Health Commission of China, Beijing, China.; Autism Research Center, Peking University Health Science Center, Beijing, China.; Zacher P; Epilepsy Center Kleinwachau, Radeberg, Germany.; Heitink KR; Department of Rehabilitation Medicine, Leiden University Medical Center, Leiden, the Netherlands.; Ropers FG; Willem-Alexander Children's Hospital, department of Pediatrics, Leiden University Medical Center, the Netherlands.; Steenbeek D; Department of Rehabilitation Medicine, Maastricht University Medical Center / Adelante Rehabilitation, Maastricht, The Netherlands.; Rybak T; 's Heeren Loo Noordwijk, Noordwijk, the Netherlands.; Santen GWE; Department of Clinical Genetics, Leiden University Medical Center, Leiden, the Netherlands.

Publisher: Elsevier Inc Country of Publication: United States NLM ID: 9918734281906676 Publication Model: eCollection Cited Medium: Internet ISSN: 2949-7744 (Electronic) Linking ISSN: 29497744 NLM ISO Abbreviation: Genet Med Open Subsets: PubMed not MEDLINE

Milunsky A; Center for Human Genetics, 840 Memorial Dr, Ste 101, Cambridge, MA, 02139, USA. amilunsky@chginc.org.; Department of Obstetrics and Gynecology, Tufts University School of Medicine, Boston, MA, USA. amilunsky@chginc.org.; Milunsky JM; Center for Human Genetics, 840 Memorial Dr, Ste 101, Cambridge, MA, 02139, USA.; Department of Obstetrics and Gynecology, Tufts University School of Medicine, Boston, MA, USA.; Dong W; Department of Human Genetics, Yale University School of Medicine, New Haven, CT, USA.; Hovhannisyan H; Center for Human Genetics, 840 Memorial Dr, Ste 101, Cambridge, MA, 02139, USA.; Oates RD; Department of Urology, Boston Medical Center and Boston University School of Medicine, Boston, MA, USA.

Publisher: Springer Country of Publication: Netherlands NLM ID: 9206495 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1573-7330 (Electronic) Linking ISSN: 10580468 NLM ISO Abbreviation: J Assist Reprod Genet Subsets: MEDLINE

Dong W; Department of Genetics, Yale University School of Medicine, New Haven, Connecticut.; Baldwin C; Center for Human Genetics and Dept. Ob/Gyn, Tufts University School of Medicine, Boston, Massachusetts.; Choi J; Department of Genetics, Yale University School of Medicine, New Haven, Connecticut.; Laboratory of Human Genetics and Genomics, Rockefeller University, New York, New York.; Milunsky JM; Center for Human Genetics and Dept. Ob/Gyn, Tufts University School of Medicine, Boston, Massachusetts.; Zhang J; Department of Genetics, Yale University School of Medicine, New Haven, Connecticut.; Bilguvar K; Department of Genetics, Yale University School of Medicine, New Haven, Connecticut.; Lifton RP; Laboratory of Human Genetics and Genomics, Rockefeller University, New York, New York.; Milunsky A; Center for Human Genetics and Dept. Ob/Gyn, Tufts University School of Medicine, Boston, Massachusetts.

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

Milunsky A; Center for Human Genetics, Cambridge, MA, USA.; Department of Obstetrics and Gynecology, Tufts University School of Medicine, Boston, MA, USA.; Lazier J; Department of Medical Genetics, University of Alberta, Edmonton, AB, Canada.; Baldwin C; Center for Human Genetics, Cambridge, MA, USA.; Young C; Division of Maternal Fetal Medicine, Department of Obstetrics and Gynecology, Royal Alexandra Hospital, University of Alberta, Edmonton, AB, Canada.; Primack D; Center for Human Genetics, Cambridge, MA, USA.; Milunsky JM; Center for Human Genetics, Cambridge, MA, USA.; Department of Obstetrics and Gynecology, Tufts University School of Medicine, Boston, MA, USA.

Publisher: Wiley Country of Publication: England NLM ID: 8106540 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1097-0223 (Electronic) Linking ISSN: 01973851 NLM ISO Abbreviation: Prenat Diagn Subsets: MEDLINE

JM Milunsky; TA Maher; G Zhao; X‐L Huang; Z Wang; Y Zou

Clinical Genetics. 73:502-503

Uhlmann WR; Division of Molecular Medicine and Genetics, Department of Internal Medicine, University of Michigan, Ann Arbor, Michigan; Department of Human Genetics, University of Michigan, Ann Arbor, Michigan.; Peñaherrera MS; Robinson WP; Milunsky JM; Nicholson JM; Albin RL

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

Drivas TG; Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Li D; Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Nair D; Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Alaimo JT; University of Missouri-Kansas City, School of Medicine, Kansas City, MO, USA.; Department of Pathology and Laboratory Medicine, Children's Mercy Hospital, Kansas City, MO, USA.; Alders M; Department of Clinical Genetics, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands.; Altmüller J; Cologne Center for Genomics, University of Cologne, Cologne, Germany.; Barakat TS; Department of Clinical Genetics, Erasmus MC, University Medical Center, Rotterdam, The Netherlands.; Bebin EM; University of Alabama at Birmingham, Birmingham, AL, USA.; Bertsch NL; Department of Clinical Genomics, Mayo Clinic, Rochester, MN, 55905, USA.; Blackburn PR; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, 55905, USA.; Blesson A; Department of Bone and Osteogenesis Imperfecta, Kennedy Krieger Institute, Baltimore, MD, 21205, USA.; Bouman AM; Department of Clinical Genetics, Erasmus MC, University Medical Center, Rotterdam, The Netherlands.; Brockmann K; Pediatrics and Pediatric Neurology, University Medical Center Göttingen, Göttingen, Germany.; Brunelle P; Univ. Lille, EA 7364-RADEME-Maladies RAres du DEveloppement embryonnaire et du MEtabolisme, F-59000, Lille, France.; CHU Lille, Institut de Génétique Médicale, F-59000, Lille, France.; Burmeister M; Michigan Neuroscience Institute, University of Michigan, Ann Arbor, MI, USA.; Departments of Computational Medicine & Bioinformatics, Psychiatry and Human Genetics, University of Michigan, Ann Arbor, MI, USA.; Cooper GM; HudsonAlpha Institute for Biotechnology, Huntsville, AL, 35806, USA.; Denecke J; Department of Pediatrics, University Medical Center Hamburg, Eppendorf, Germany.; Dieux-Coëslier A; Univ. Lille, EA 7364-RADEME-Maladies RAres du DEveloppement embryonnaire et du MEtabolisme, F-59000, Lille, France.; CHU Lille, Institut de Génétique Médicale, F-59000, Lille, France.; Dubbs H; Department of Pediatrics, Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Ferrer A; Center for Individualized Medicine, Mayo Clinic, Rochester, MN, USA.; Gal D; The Ruth and Bruce Rappaport Faculty of Medicine, Technion-Israel Institute of Technology, Haifa, 3525433, Israel.; Bartik LE; University of Missouri-Kansas City, School of Medicine, Kansas City, MO, USA.; Division of Clinical Genetics, Department of Pediatrics, Children's Mercy Hospital, Kansas City, MO, USA.; Gunderson LB; Department of Clinical Genomics, Mayo Clinic, Rochester, MN, 55905, USA.; Hasadsri L; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, 55905, USA.; Jain M; Department of Bone and Osteogenesis Imperfecta, Kennedy Krieger Institute, Baltimore, MD, 21205, USA.; Karimov C; Department of Medical Genetics, , Children's Hospital Los Angeles, Keck School of Medicine of University of Southern California, Los Angeles, CA, 90027, USA.; Keena B; Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Klee EW; Center for Individualized Medicine, Mayo Clinic, Rochester, MN, USA.; Kloth K; Institute of Human Genetics, University Medical Center Hamburg, Eppendorf, Germany.; Lace B; Clinical Geneticist Medical Genetics Department, CHUQ-CHUL, Quebec, Canada.; Macchiaiolo M; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, 00146, Rome, Italy.; Marcadier JL; Division of Medical Genetics, Alberta Children's Hospital, Calgary, AB, Canada.; Milunsky JM; Center for Human Genetics, Cambridge, MA, USA.; Napier MP; Department of Pediatrics London Health Sciences Centre and Western University, London, ON, Canada.; Ortiz-Gonzalez XR; Department of Pediatrics, Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Department of Neurology, Pereleman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.; Pichurin PN; Department of Clinical Genomics, Mayo Clinic, Rochester, MN, 55905, USA.; Pinner J; Centre for Clinical Genetics, Sydney Children's Hospital, Sydney, Australia.; Powis Z; Ambry Genetics, Aliso Viejo, CA, USA.; Prasad C; Department of Pediatrics London Health Sciences Centre and Western University, London, ON, Canada.; Radio FC; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, 00146, Rome, Italy.; Rasmussen KJ; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, 55905, USA.; Renaud DL; Department of Clinical Genomics, Mayo Clinic, Rochester, MN, 55905, USA.; Rush ET; University of Missouri-Kansas City, School of Medicine, Kansas City, MO, USA.; Division of Clinical Genetics, Department of Pediatrics, Children's Mercy Hospital, Kansas City, MO, USA.; Division of Endocrinology, Metabolism, Osteoporosis, and Genetics, Department of Internal Medicine, University of Kansas Medical Center, Kansas City, KS, USA.; Saunders C; University of Missouri-Kansas City, School of Medicine, Kansas City, MO, USA.; Department of Pathology and Laboratory Medicine, Children's Mercy Hospital, Kansas City, MO, USA.; Division of Clinical Genetics, Department of Pediatrics, Children's Mercy Hospital, Kansas City, MO, USA.; Selcen D; Department of Neurology, Mayo Clinic, Rochester, MN, 55905, USA.; Seman AR; Division of Genetics and Genomics, Department of Medicine, Boston Children's Hospital, Boston, MA, USA.; Shinde DN; Ambry Genetics, Aliso Viejo, CA, USA.; Smith ED; Ambry Genetics, Aliso Viejo, CA, USA.; Smol T; Univ. Lille, EA 7364-RADEME-Maladies RAres du DEveloppement embryonnaire et du MEtabolisme, F-59000, Lille, France.; CHU Lille, Institut de Génétique Médicale, F-59000, Lille, France.; Snijders Blok L; Human Genetics Department, Radboud University Medical Center, Nijmegen, the Netherlands.; Language & Genetics Department, Max Planck Institute for Psycholinguistics, Nijmegen, the Netherlands.; Stoler JM; Division of Genetics and Genomics, Department of Medicine, Boston Children's Hospital, Boston, MA, USA.; Tang S; Ambry Genetics, Aliso Viejo, CA, USA.; Tartaglia M; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, 00146, Rome, Italy.; Thompson ML; HudsonAlpha Institute for Biotechnology, Huntsville, AL, 35806, USA.; van de Kamp JM; Department of Clinical Genetics, Amsterdam UMC, Vrije Universiteit Amsterdam, Amsterdam, the Netherlands.; Wang J; Department of Pediatrics, Peking University First Hospital, Beijing, China.; Key Laboratory for Neuroscience, Ministry of Education/National Health and Family Planning Commission, Peking University, Beijing, China.; Weise D; Pediatrics and Pediatric Neurology, University Medical Center Göttingen, Göttingen, Germany.; Weiss K; The Genetics Institute, Rambam Health Care Campus, 3109601, Haifa, Israel.; Woitschach R; Institute of Human Genetics, University Medical Center Hamburg, Eppendorf, Germany.; Wollnik B; Institute of Human Genetics, University Medical Center Göttingen, Göttingen, Germany.; Cluster of Excellence 'Multiscale Bioimaging: from Molecular Machines to Networks of Excitable Cells' (MBExC), University of Göttingen, 37073, Göttingen, Germany.; Yan H; Michigan Neuroscience Institute, University of Michigan, Ann Arbor, MI, USA.; Department of Pediatrics, Peking University First Hospital, Beijing, China.; Zackai EH; Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Zampino G; Center for Rare Disease and Congenital Defects, Fondazione Policlinico Universitario A. Gemelli, IRCCS, Università Cattolica del Sacro Cuore, 00168, Rome, Italy.; Campeau P; Department of Pediatrics, Medical Genetics Division, University of Montreal, Montreal, Canada.; Bhoj E; Children's Hospital of Philadelphia, Philadelphia, PA, USA. bhoje@email.chop.edu.

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

Shin M; Departments of Pediatrics and Neurology, Division of Pediatric Neurology, Boston Medical Center, Boston, MA, USA.; Douglass LM; Departments of Pediatrics and Neurology, Division of Pediatric Neurology, Boston Medical Center, Boston, MA, USA.; Milunsky JM; Center for Human Genetics, Inc, Cambridge, MA, USA.; Rosman NP; Departments of Pediatrics and Neurology, Division of Pediatric Neurology, Boston Medical Center, Boston, MA, USA npaul.rosman@bmc.org.

Publisher: Sage Country of Publication: United States NLM ID: 8606714 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1708-8283 (Electronic) Linking ISSN: 08830738 NLM ISO Abbreviation: J Child Neurol Subsets: MEDLINE

Wyandt HE; Center for Human Genetics, Boston University School of Medicine, Boston, MA 02118, USA. hwyandt@bu.edu; Tonk VS; Huang XL; Evans AT; Milunsky JM; Milunsky A

Publisher: S. Karger Country of Publication: Switzerland NLM ID: 9107463 Publication Model: Print Cited Medium: Print ISSN: 1015-3837 (Print) Linking ISSN: 10153837 NLM ISO Abbreviation: Fetal Diagn Ther Subsets: MEDLINE

Lebo RV; Center for Human Genetics, Boston University School of Medicine, 715 Albany St., Boston, MA 02118-2526, USA. rlebo@bu.edu; Ikuta T; Milunsky JM; Milunsky A

Publisher: Munksgaard Country of Publication: Denmark NLM ID: 0253664 Publication Model: Print Cited Medium: Print ISSN: 0009-9163 (Print) Linking ISSN: 00099163 NLM ISO Abbreviation: Clin Genet Subsets: MEDLINE

Dumitrescu AV; Pediatric Ophthalmology, Department of Ophthalmology and Visual Science, University of Iowa Hospital and Clinics, Iowa City, IA 52246, USA.; Milunsky JM; Longmuir SQ; Drack AV

Publisher: Informa Healthcare Country of Publication: England NLM ID: 9436057 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1744-5094 (Electronic) Linking ISSN: 13816810 NLM ISO Abbreviation: Ophthalmic Genet Subsets: MEDLINE

Milunsky JM; Center for Human Genetics, Boston University School of Medicine, MA 02118, USA.; Genest DR; Milunsky A

Publisher: Springer International Country of Publication: Germany NLM ID: 8708728 Publication Model: Print Cited Medium: Print ISSN: 0931-041X (Print) Linking ISSN: 0931041X NLM ISO Abbreviation: Pediatr Nephrol Subsets: MEDLINE

Mark HF; Center for Human Genetics, Boston University School of Medicine, Boston, MA 02118, USA. hflmark@bu.edu; Wyandt H; Huang XL; Milunsky JM

Publisher: Munksgaard Country of Publication: Denmark NLM ID: 0253664 Publication Model: Print Cited Medium: Print ISSN: 0009-9163 (Print) Linking ISSN: 00099163 NLM ISO Abbreviation: Clin Genet Subsets: MEDLINE

Milunsky, A; Shim, SH; Ito, M; Jaekle, RK; Bassett, LL; Brumund, MR; Milunsky, JM

PRENATAL DIAGNOSIS; JUL 2005, 25 7, p582-p585, 4p.

Milunsky JM; Center for Human Genetics, Boston University School of Medicine, Boston, MA 02118, USA. jmilunsk@bu.edu; Huang XL

Publisher: Munksgaard Country of Publication: Denmark NLM ID: 0253664 Publication Model: Print Cited Medium: Print ISSN: 0009-9163 (Print) Linking ISSN: 00099163 NLM ISO Abbreviation: Clin Genet Subsets: MEDLINE