Delineation of a KDM2B-related neurodevelopmental disorder and its associated DNA methylation signature.

Autor: van Jaarsveld RH; Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands., Reilly J; Department of Pathology and Laboratory Medicine, Western University, London, Ontario, Canada., Cornips MC; Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands., Hadders MA; Oncode Institute and Center for Molecular Medicine, University Medical Center Utrecht, Utrecht University, Utrecht, The Netherlands., Agolini E; Laboratory of Medical Genetics, Translational Cytogenomics Research Unit, Bambino Gesù Children Hospital, IRCCS, 00165 Rome, Italy., Ahimaz P; Division of Clinical Genetics, Department of Pediatrics, Columbia University, New York, NY., Anyane-Yeboa K; Division of Clinical Genetics, Department of Pediatrics, Columbia University, New York, NY., Bellanger SA; Service de Génétique Médicale et de Biologie de la Reproduction, Centre Hospitalier Regional Universitaire Brest, Brest, France., van Binsbergen E; Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands., van den Boogaard MJ; Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands., Brischoux-Boucher E; Centre de Génétique Humaine, CHU de Besançon, Université de Franche-Comté, Besançon, France., Caylor RC; Greenwood Genetic Center, Greenwood, SC., Ciolfi A; Genetics and Rare Diseases Research Division, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy., van Essen TAJ; Department of Medical Genetics, University Medical Centre Groningen, University of Groningen, Groningen, The Netherlands., Fontana P; Medical Genetics Unit, A.O.R.N. San Pio, Benevento, Italy., Hopman S; Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands., Iascone M; Laboratorio di Genetica Medica - ASST Papa Giovanni XXIII, Bergamo, Italy., Javier MM; Department of Medical Genetics, BC Children's Hospital Research Institute, The University of British Columbia, Vancouver, British Columbia, Canada., Kamsteeg EJ; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands., Kerkhof J; Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, Ontario, Canada., Kido J; Department of Pediatrics, Faculty of Life Sciences, Kumamoto University, Kumamoto, Japan., Kim HG; Neurological Disorders Research Center, Qatar Biomedical Research Institute, Hamad Bin Khalifa University, Doha, Qatar., Kleefstra T; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands., Lonardo F; Medical Genetics Unit, A.O.R.N. San Pio, Benevento, Italy., Lai A; Division of Epilepsy and Clinical Neurophysiology and Epilepsy Genetics Program and Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA., Lev D; The Rina Mor Institute of Medical Genetics, Wolfson Medical Center, Holon, Israel., Levy MA; Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, Ontario, Canada., Lewis MES; Department of Medical Genetics, BC Children's Hospital Research Institute, The University of British Columbia, Vancouver, British Columbia, Canada., Lichty A; Greenwood Genetic Center, Greenwood, SC., Mannens MMAM; Department of Human Genetics, Amsterdam UMC, University of Amsterdam, Amsterdam Reproduction and Development Research Institute, Amsterdam, The Netherlands., Matsumoto N; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan., Maya I; The Raphael Recanati Genetic Institute, Rabin Medical Center, Beilinson Hospital, Petach-Tikva, Israel; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel., McConkey H; Department of Pathology and Laboratory Medicine, Western University, London, Ontario, Canada; Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, Ontario, Canada., Megarbane A; Department of Human Genetics, Gilbert and Rose-Marie Chagoury School of Medicine, Lebanese American University, Beirut, Lebanon; Institut Jérôme Lejeune, Paris, France., Michaud V; Department of Medical Genetics, CHU Bordeaux, Bordeaux, France., Miele E; Department of Pediatric Hematology and Oncology and Cellular and Gene Therapy, Bambino Gesù Children's Hospital, Scientific Institute for Research, Hospitalization and Healthcare (IRCCS), Rome, Italy., Niceta M; Genetics and Rare Diseases Research Division, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy., Novelli A; Laboratory of Medical Genetics, Translational Cytogenomics Research Unit, Bambino Gesù Children Hospital, IRCCS, 00165 Rome, Italy., Onesimo R; Center for Rare Diseases and Congenital Defects, Fondazione Policlinico Universitario A. Gemelli IRCCS, Rome, Italy., Pfundt R; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands., Popp B; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany; Center of Functional Genomics, Berlin Institute of Health at Charité - Universitätsmedizin Berlin, Berlin, Germany., Prijoles E; Greenwood Genetic Center, Greenwood, SC., Relator R; Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, Ontario, Canada., Redon S; Service de Génétique Médicale et de Biologie de la Reproduction, Centre Hospitalier Regional Universitaire Brest, Brest, France; Université de Brest, Inserm, EFS, UMR 1078, GGB, Brest, France., Rots D; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands., Rouault K; Service de Génétique Médicale et de Biologie de la Reproduction, Centre Hospitalier Regional Universitaire Brest, Brest, France; Université de Brest, Inserm, EFS, UMR 1078, GGB, Brest, France., Saida K; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan., Schieving J; Department of Pediatric Neurology, Radboud University Medical Center, Nijmegen, The Netherlands., Tartaglia M; Genetics and Rare Diseases Research Division, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy., Tenconi R; Clinical Genetics Unit, Department of Women and Children's Health, University of Padova, Padova, Italy., Uguen K; Service de Génétique Médicale et de Biologie de la Reproduction, Centre Hospitalier Regional Universitaire Brest, Brest, France., Verbeek N; Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands., Walsh CA; Division of Genetics and Genomics and Howard Hughes Medical Institute, Boston Children's Hospital, Boston, MA., Yosovich K; Molecular Genetic Laboratory, Edith Wolfson Medical Center, Holon, Israel., Yuskaitis CJ; Division of Epilepsy and Clinical Neurophysiology and Epilepsy Genetics Program, Boston Children's Hospital, Harvard Medical School, Boston, MA., Zampino G; Center for Rare Diseases and Congenital Defects, Fondazione Policlinico Universitario A. Gemelli IRCCS, Rome, Italy; Faculty of Medicine and Surgery, Catholic University of Sacred Heart, Rome, Italy., Sadikovic B; Department of Pathology and Laboratory Medicine, Western University, London, Ontario, Canada; Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, Ontario, Canada. Electronic address: sadikovic@lhsc.on.ca., Alders M; Department of Human Genetics, Amsterdam UMC, University of Amsterdam, Amsterdam Reproduction and Development Research Institute, Amsterdam, The Netherlands. Electronic address: m.alders@amsterdamumc.nl., Oegema R; Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands. Electronic address: r.oegema@umcutrecht.nl.

Publikováno v: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2023 Jan; Vol. 25 (1), pp. 49-62. Date of Electronic Publication: 2022 Nov 01.

Relief of pain by prefrontal lobotomy; report of four cases.

Autor: JAVIER MM, LUCAS E

Publikováno v: Philippine journal of surgery [Philipp J Surg] 1950 May-Jun; Vol. 5 (3), pp. 95-8.

Management of gunshot and shrapnel wounds of the brain and cranium.

Autor: JAVIER MM, DIMAYUGA AM

Publikováno v: Philippine journal of surgery [Philipp J Surg] 1951 Sep-Oct; Vol. 6 (5), pp. 209-13.

Hemangioma of the skull.

Autor: JAVIER MM, DIMAYUGA AM

Publikováno v: Philippine journal of surgery [Philipp J Surg] 1951 Sep-Oct; Vol. 6 (5), pp. 221-25.