PSMC1 variant causes a novel neurological syndrome.
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| Title: | PSMC1 variant causes a novel neurological syndrome. |
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| Authors: | Aharoni S; The Morris Kahn Laboratory of Human Genetics, National Institute for Biotechnology in the Negev and Faculty of Health Sciences, Ben-Gurion University of the Negev, Beer Sheva, Israel., Proskorovski-Ohayon R; The Morris Kahn Laboratory of Human Genetics, National Institute for Biotechnology in the Negev and Faculty of Health Sciences, Ben-Gurion University of the Negev, Beer Sheva, Israel., Krishnan RK; Department of Life Sciences, Faculty of Natural Sciences, Ben-Gurion University of the Negev, Beer Sheva, Israel., Yogev Y; The Morris Kahn Laboratory of Human Genetics, National Institute for Biotechnology in the Negev and Faculty of Health Sciences, Ben-Gurion University of the Negev, Beer Sheva, Israel., Wormser O; The Morris Kahn Laboratory of Human Genetics, National Institute for Biotechnology in the Negev and Faculty of Health Sciences, Ben-Gurion University of the Negev, Beer Sheva, Israel., Hadar N; The Morris Kahn Laboratory of Human Genetics, National Institute for Biotechnology in the Negev and Faculty of Health Sciences, Ben-Gurion University of the Negev, Beer Sheva, Israel., Bakhrat A; Department of Life Sciences, Faculty of Natural Sciences, Ben-Gurion University of the Negev, Beer Sheva, Israel., Alshafee I; The Morris Kahn Laboratory of Human Genetics, National Institute for Biotechnology in the Negev and Faculty of Health Sciences, Ben-Gurion University of the Negev, Beer Sheva, Israel., Gombosh M; The Morris Kahn Laboratory of Human Genetics, National Institute for Biotechnology in the Negev and Faculty of Health Sciences, Ben-Gurion University of the Negev, Beer Sheva, Israel., Agam N; The Morris Kahn Laboratory of Human Genetics, National Institute for Biotechnology in the Negev and Faculty of Health Sciences, Ben-Gurion University of the Negev, Beer Sheva, Israel., Gradstein L; Department of Ophthalmology, Soroka University Medical Center and Clalit Health Services, Ben-Gurion University of the Negev, Beer-Sheva, Israel., Shorer Z; Pediatric Neurology Unit, Division of Pediatrics, Soroka Medical Center, Beer Sheva, Israel., Zarivach R; Department of Life Sciences, Faculty of Natural Sciences, Ben-Gurion University of the Negev, Beer Sheva, Israel., Eskin-Schwartz M; Genetics Institute, Soroka Medical Center, Ben-Gurion University of the Negev, Beer Sheva, Israel., Abdu U; Department of Life Sciences, Faculty of Natural Sciences, Ben-Gurion University of the Negev, Beer Sheva, Israel., Birk OS; The Morris Kahn Laboratory of Human Genetics, National Institute for Biotechnology in the Negev and Faculty of Health Sciences, Ben-Gurion University of the Negev, Beer Sheva, Israel.; Genetics Institute, Soroka Medical Center, Ben-Gurion University of the Negev, Beer Sheva, Israel. |
| Source: | Clinical genetics [Clin Genet] 2022 Oct; Vol. 102 (4), pp. 324-332. Date of Electronic Publication: 2022 Aug 03. |
| Publication Type: | Journal Article; Research Support, Non-U.S. Gov't |
| Journal Info: | 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 |
| Database: | MEDLINE Ultimate |
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| ISSN: | 1399-0004 |
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| DOI: | 10.1111/cge.14195 |
