Zobrazeno 1 - 10
of 1 246
pro vyhledávání: '"Walker–Warburg syndrome"'
Autor:
Saidin A; Epilepsy Research Group, Clinical and Health Sciences, Australian Centre for Precision Health, University of South Australia, Adelaide, SA 5000, Australia.; Novocraft Technologies, Petaling Jaya 46300, Malaysia., Papazovska Cherepnalkovski A; Department of Neonatology, Clinic for Gynecology and Obstetrics, Clinical Hospital Center Split, 21000 Split, Croatia.; Department of Health Studies, University of Split, 21000 Split, Croatia., Shaukat Z; Epilepsy Research Group, Clinical and Health Sciences, Australian Centre for Precision Health, University of South Australia, Adelaide, SA 5000, Australia., Arsov T; Faculty of Medical Sciences, University Goce Delcev in Shtip, 2000 Shtip, North Macedonia., Hussain R; Epilepsy Research Group, Clinical and Health Sciences, Australian Centre for Precision Health, University of South Australia, Adelaide, SA 5000, Australia., Roberts BJ; Clinical and Health Sciences, Health and Biomedical Innovation, University of South Australia, Adelaide, SA 5000, Australia., Bucat M; Department of Neonatology, Clinic for Gynecology and Obstetrics, Clinical Hospital Center Split, 21000 Split, Croatia., Cogelja K; Department of Neonatology, Clinic for Gynecology and Obstetrics, Clinical Hospital Center Split, 21000 Split, Croatia., Ricos MG; Epilepsy Research Group, Clinical and Health Sciences, Australian Centre for Precision Health, University of South Australia, Adelaide, SA 5000, Australia., Dibbens LM; Epilepsy Research Group, Clinical and Health Sciences, Australian Centre for Precision Health, University of South Australia, Adelaide, SA 5000, Australia.
Publikováno v:
Genes [Genes (Basel)] 2024 Aug 05; Vol. 15 (8). Date of Electronic Publication: 2024 Aug 05.
Autor:
Jung EE; Department of Ophthalmology, Roski Eye Institute, Keck School of Medicine, University of Southern California, Los Angeles, CA; and.; Department of Surgery, The Vision Center, Children's Hospital Los Angeles, Los Angeles, CA., Nagiel A; Department of Ophthalmology, Roski Eye Institute, Keck School of Medicine, University of Southern California, Los Angeles, CA; and.; Department of Surgery, The Vision Center, Children's Hospital Los Angeles, Los Angeles, CA.
Publikováno v:
Retinal cases & brief reports [Retin Cases Brief Rep] 2024 Jan 01; Vol. 18 (1), pp. 6-10.
Autor:
Zago S; Unit of Pathology, AUSL della Romagna, St. Maria delle Croci Hospital, Ravenna, Italy., Silvestri E; Division of Pathology, Unit of Fetal and Neonatal Pathology, San Camillo-Forlanini Hospital, Rome, Italy., Arcangeli T; Unit of Obstetrics and Gynecology, AUSL della Romagna, St. Maria delle Croci Hospital, Ravenna, Italy., Calisesi M; Unit of Obstetrics and Gynecology, AUSL della Romagna, St. Maria delle Croci Hospital, Ravenna, Italy., Romeo C; Unit of Radiology, AUSL della Romagna, St. Maria delle Croci Hospital, Ravenna, Italy., Parmeggiani G; Medical Genetics Unit, AUSL della Romagna, Ospedale Bufalini, Cesena, Italy., Parrini E; Pediatric Neurology, Neurogenetics, and Neurobiology Unit and Laboratories, Meyer Children's Hospital-University of Florence, Florence, Italy., Cetica V; Pediatric Neurology, Neurogenetics, and Neurobiology Unit and Laboratories, Meyer Children's Hospital-University of Florence, Florence, Italy., Guerrini R; Pediatric Neurology, Neurogenetics, and Neurobiology Unit and Laboratories, Meyer Children's Hospital-University of Florence, Florence, Italy., Palicelli A; Pathology Unit, Azienda USL-IRCCS di Reggio Emilia, Reggio Emilia, Italy., Bonasoni MP; Pathology Unit, Azienda USL-IRCCS di Reggio Emilia, Reggio Emilia, Italy.
Publikováno v:
Fetal and pediatric pathology [Fetal Pediatr Pathol] 2023 Apr; Vol. 42 (2), pp. 334-341. Date of Electronic Publication: 2022 Sep 01.
Autor:
Shi Y; Department of Neurology, Xiangya Hospital, Central South University, Changsha, China.; Key Laboratory of Hunan Province in Neurodegenerative Disorders, Central South University, Changsha, China., Fu Y; Department of Obstetrics, Xiangya Hospital, Central South University, Changsha, China.; Department of Obstetrics Fetal Medicine, Xiangya Hospital, Central South University, Changsha, Hunan, China.; Fetal Medical Center, Central South University, Changsha, China., Tao Z; Center for Drug Safety Evaluation and Research, State Key Laboratory of Drug Research, Shanghai Institute of Materia Medica, Chinese Academy of Sciences, Shanghai, China., Yong W; Department of Obstetrics, Xiangya Hospital, Central South University, Changsha, China.; Department of Obstetrics Fetal Medicine, Xiangya Hospital, Central South University, Changsha, Hunan, China.; Fetal Medical Center, Central South University, Changsha, China., Peng H; Department of Neurology, Xiangya Hospital, Central South University, Changsha, China.; Key Laboratory of Hunan Province in Neurodegenerative Disorders, Central South University, Changsha, China., Jian W; Department of Obstetrics, Xiangya Hospital, Central South University, Changsha, China.; Department of Obstetrics Fetal Medicine, Xiangya Hospital, Central South University, Changsha, Hunan, China.; Fetal Medical Center, Central South University, Changsha, China., Chen G; Department of Obstetrics, Xiangya Hospital, Central South University, Changsha, China.; Department of Obstetrics Fetal Medicine, Xiangya Hospital, Central South University, Changsha, Hunan, China.; Fetal Medical Center, Central South University, Changsha, China., Guo M; Department of Obstetrics, Xiangya Hospital, Central South University, Changsha, China.; Department of Obstetrics Fetal Medicine, Xiangya Hospital, Central South University, Changsha, Hunan, China.; Fetal Medical Center, Central South University, Changsha, China., Zhao Y; Department of Obstetrics, Xiangya Hospital, Central South University, Changsha, China.; Department of Obstetrics Fetal Medicine, Xiangya Hospital, Central South University, Changsha, Hunan, China.; Fetal Medical Center, Central South University, Changsha, China., Yao R; Department of Obstetrics, Xiangya Hospital, Central South University, Changsha, China.; Department of Obstetrics Fetal Medicine, Xiangya Hospital, Central South University, Changsha, Hunan, China.; Fetal Medical Center, Central South University, Changsha, China., Guo D; Department of Obstetrics, Xiangya Hospital, Central South University, Changsha, China. guodewei@csu.edu.cn.; Department of Obstetrics Fetal Medicine, Xiangya Hospital, Central South University, Changsha, Hunan, China. guodewei@csu.edu.cn.; Fetal Medical Center, Central South University, Changsha, China. guodewei@csu.edu.cn.
Publikováno v:
Genes & genomics [Genes Genomics] 2023 Mar; Vol. 45 (3), pp. 359-365. Date of Electronic Publication: 2022 Aug 11.
Autor:
Sugiyama M; Department of Pediatric Oncology, National Cancer Center Hospital, Tokyo, Japan., Arakawa A; Department of Pediatric Oncology, National Cancer Center Hospital, Tokyo, Japan.; Rare Cancer Center, National Cancer Center Hospital, Tokyo, Japan., Iwata S; Rare Cancer Center, National Cancer Center Hospital, Tokyo, Japan.; Department of Musculoskeletal Oncology and Rehabilitation, National Cancer Center Hospital, Tokyo, Japan., Tao K; Department of Pediatric Oncology, National Cancer Center Hospital, Tokyo, Japan., Shirakawa N; Department of Pediatric Oncology, National Cancer Center Hospital, Tokyo, Japan., Watanabe Y; Department of Pediatric Oncology, National Cancer Center Hospital, Tokyo, Japan., Nakajima M; Department of Pediatric Oncology, National Cancer Center Hospital, Tokyo, Japan., Yoshida A; Department of Diagnostic Pathology, National Cancer Center Hospital, Tokyo, Japan., Ishigaki K; Department of Pediatrics, Tokyo Women's Medical University School of Medicine, Tokyo, Japan., Kawai A; Rare Cancer Center, National Cancer Center Hospital, Tokyo, Japan.; Department of Musculoskeletal Oncology and Rehabilitation, National Cancer Center Hospital, Tokyo, Japan., Ogawa C; Department of Pediatric Oncology, National Cancer Center Hospital, Tokyo, Japan.; Rare Cancer Center, National Cancer Center Hospital, Tokyo, Japan.
Publikováno v:
Pediatric blood & cancer [Pediatr Blood Cancer] 2024 Jul; Vol. 71 (7), pp. e31036. Date of Electronic Publication: 2024 Apr 28.
Autor:
Zeng L; Center of Prenatal Diagnosis, the Affiliated Hospital of Putian College, Putian, Fujian 351100, China. ever.2000@163.com., Lin L, Zhang Y, Lin K, Xu Q, Lin C
Publikováno v:
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics [Zhonghua Yi Xue Yi Chuan Xue Za Zhi] 2023 Jul 10; Vol. 40 (7), pp. 802-806.
Publikováno v:
Journal of pediatric ophthalmology and strabismus [J Pediatr Ophthalmol Strabismus] 2023 Jul-Aug; Vol. 60 (4), pp. e35-e37. Date of Electronic Publication: 2023 Jul 01.
Autor:
Ma P; Medical Genetics Center, Gansu Provincial Clinical Research Center for Birth Defects and Rare Diseases, Gansu Provincial Maternity and Child Health Care Hospital, Lanzhou, Gansu 730050, China. 15293110286@163.com., Chen X, Hui L, Zhang Q, Zhang C, Hao S, Yang L, Wang X, Xu F, Zhou B
Publikováno v:
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics [Zhonghua Yi Xue Yi Chuan Xue Za Zhi] 2023 May 10; Vol. 40 (5), pp. 572-576.
Autor:
Ko YJ; Department of Pediatrics, Chung-Ang University Gwangmyeong Hospital, Gwangmyeong, Republic of Korea; Department of Pediatrics, Seoul National University Bundang Hospital, Seongnam, Republic of Korea., Cho A; Department of Pediatrics, Seoul National University Bundang Hospital, Seongnam, Republic of Korea. Electronic address: annacho77@snu.ac.kr., Kim WJ; Department of Pediatrics, Pediatric Clinical Neuroscience Center, Seoul National University Children's Hospital, Seoul, Republic of Korea., Kim SY; Department of Pediatrics, Pediatric Clinical Neuroscience Center, Seoul National University Children's Hospital, Seoul, Republic of Korea; Department of Genomic Medicine, Seoul National University Hospital, Seoul, Republic of Korea., Lim BC; Department of Pediatrics, Pediatric Clinical Neuroscience Center, Seoul National University Children's Hospital, Seoul, Republic of Korea., Kim H; Department of Pediatrics, Seoul National University Bundang Hospital, Seongnam, Republic of Korea., Hwang H; Department of Pediatrics, Seoul National University Bundang Hospital, Seongnam, Republic of Korea., Choi JE; Department of Pediatrics, Seoul National University Boramae Hospital, Seoul, Republic of Korea., Kim KJ; Department of Pediatrics, Pediatric Clinical Neuroscience Center, Seoul National University Children's Hospital, Seoul, Republic of Korea., Chae JH; Department of Pediatrics, Pediatric Clinical Neuroscience Center, Seoul National University Children's Hospital, Seoul, Republic of Korea; Department of Genomic Medicine, Seoul National University Hospital, Seoul, Republic of Korea.
Publikováno v:
Neuromuscular disorders : NMD [Neuromuscul Disord] 2023 May; Vol. 33 (5), pp. 425-431. Date of Electronic Publication: 2023 Mar 23.
Autor:
Enkhjargal S; Department of Molecular Genetics, Institute for Comprehensive Medical Science, Fujita Health University, Toyoake, Aichi 470-1192, Japan., Sugahara K; Department of Clinical Genetics, Fujita Health University Hospital, Toyoake, Aichi 470-1192, Japan., Khaledian B; Department of Clinical Genetics, Fujita Health University Hospital, Toyoake, Aichi 470-1192, Japan., Nagasaka M; Department of Clinical Genetics, Fujita Health University Hospital, Toyoake, Aichi 470-1192, Japan., Inagaki H; Department of Molecular Genetics, Institute for Comprehensive Medical Science, Fujita Health University, Toyoake, Aichi 470-1192, Japan., Kurahashi H; Department of Molecular Genetics, Institute for Comprehensive Medical Science, Fujita Health University, Toyoake, Aichi 470-1192, Japan., Koshimizu H; Research Promotion Headquarters, Fujita Health University, Toyoake, Aichi 470-1192, Japan., Toda T; Department of Neurology, Graduate School of Medicine, The University of Tokyo, Bunkyo-ku, Tokyo 113-0033, Japan., Taniguchi-Ikeda M; Department of Clinical Genetics, Fujita Health University Hospital, Toyoake, Aichi 470-1192, Japan.
Publikováno v:
Human molecular genetics [Hum Mol Genet] 2023 Apr 06; Vol. 32 (8), pp. 1301-1312.