Zobrazeno 1 - 10
of 1 652
pro vyhledávání: '"Wolf-Hirschhorn Syndrome"'
Autor:
Li F; Center for Molecular Diagnostics, Qingyuan Hospital Affiliated to Guangzhou Medical University, Qingyuan People's Hospital, Qingyuan, Guangdong 511518, China. hyyinweiguo@hotmail.com., Wu A, Xie X, Ma M, Tang J, Tang S, Tan W, Yin W
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] 2024 Oct 10; Vol. 41 (10), pp. 1201-1205.
Autor:
Paprocka J; Pediatric Neurology Department, Faculty of Medical Sciences, Medical University of Silesia, Katowice, Poland. Electronic address: jpaprocka@sum.edu.pl., Kaminiów K; Students' Scientific Society, Pediatric Neurology Department, Faculty of Medical Sciences in Katowice, Medical University of Silesia, Katowice, Poland., Yetkin O; Department of Developmental Neurology, Poznań University of Medical Sciences, Poznań, Poland., Tekturk P; Child Neurology and Neurology Departments, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Türkiy., Baykan B; Clinical Neurophysiology and Neurology Departments, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey., Leiz S; Neuropädiatrie, KinderklinikDritter Orden, München, Germany., Kluger G; Institute for Transition, Rehabilitation and Palliation, Paracelsus Medical University, Salzburg, Austria; Center for Pediatric Neurology, Neurorehabilitation and Epileptology, Schoen KlinikVogtareuth, Vogtareuth, Germany., Striano P; IRCCS IstitutoGianninaGaslini', Genova, Italy; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genova, Genova, Italy.
Publikováno v:
Seizure [Seizure] 2024 Mar; Vol. 116, pp. 14-23. Date of Electronic Publication: 2022 Dec 08.
Autor:
Nishi E; Department of Medical Genetics, Osaka Women's and Children's Hospital, Osaka, Japan., Yanagi K; Department of Genome Medicine, National Center for Child Health and Development, Tokyo, Japan., Kaname T; Department of Genome Medicine, National Center for Child Health and Development, Tokyo, Japan., Okamoto N; Department of Medical Genetics, Osaka Women's and Children's Hospital, Osaka, Japan.
Publikováno v:
Molecular genetics & genomic medicine [Mol Genet Genomic Med] 2024 Feb; Vol. 12 (2), pp. e2396.
Autor:
Su D; Department of Anatomy and Cell Biology, The University of Iowa, Iowa City, Iowa, USA; Craniofacial Anomalies Research Center, Carver College of Medicine, The University of Iowa, Iowa City, Iowa, USA., Eliason S; Department of Anatomy and Cell Biology, The University of Iowa, Iowa City, Iowa, USA; Craniofacial Anomalies Research Center, Carver College of Medicine, The University of Iowa, Iowa City, Iowa, USA., Sun Z; College of Medicine, Washington University St Louis, St Louis, Missouri, USA., Shao F; Department of Anatomy and Cell Biology, The University of Iowa, Iowa City, Iowa, USA., Amendt BA; Department of Anatomy and Cell Biology, The University of Iowa, Iowa City, Iowa, USA; Craniofacial Anomalies Research Center, Carver College of Medicine, The University of Iowa, Iowa City, Iowa, USA; Iowa Institute for Oral Health Research, College of Dentistry, The University of Iowa, Iowa City, Iowa, USA. Electronic address: brad-amendt@uiowa.edu.
Publikováno v:
The Journal of biological chemistry [J Biol Chem] 2023 Nov; Vol. 299 (11), pp. 105324. Date of Electronic Publication: 2023 Oct 06.
Publikováno v:
Alternative therapies in health and medicine [Altern Ther Health Med] 2023 Nov; Vol. 29 (8), pp. 907-909.
Autor:
Horiguchi A; Division of Neurology, Saitama Children's Medical Center, Saitama, Saitama, Japan., Koichihara R; Division of Neurology, Saitama Children's Medical Center, Saitama, Saitama, Japan., Kikuchi K; Division of Neurology, Saitama Children's Medical Center, Saitama, Saitama, Japan., Nonoyama H; Division of Neurology, Saitama Children's Medical Center, Saitama, Saitama, Japan., Daida A; Division of Neurology, Saitama Children's Medical Center, Saitama, Saitama, Japan., Oba D; Division of Medical Genetics, Saitama Children's Medical Center, Saitama, Saitama, Japan., Hirata Y; Division of Neurology, Saitama Children's Medical Center, Saitama, Saitama, Japan., Matsuura R; Division of Neurology, Saitama Children's Medical Center, Saitama, Saitama, Japan., Ohashi H; Division of Medical Genetics, Saitama Children's Medical Center, Saitama, Saitama, Japan., Hamano SI; Division of Neurology, Saitama Children's Medical Center, Saitama, Saitama, Japan.
Publikováno v:
Neuropediatrics [Neuropediatrics] 2023 Oct; Vol. 54 (5), pp. 339-343. Date of Electronic Publication: 2023 Apr 19.
Autor:
Tang F; Department of Obstetrics & Gynecology, West China Second University Hospital, Sichuan University, Chengdu, China.; Key Laboratory of Birth Defects and Related Diseases of Women and Children, Ministry of Education, Sichuan University, Chengdu, China., Zeng Y; Department of Obstetrics & Gynecology, West China Second University Hospital, Sichuan University, Chengdu, China.; Key Laboratory of Birth Defects and Related Diseases of Women and Children, Ministry of Education, Sichuan University, Chengdu, China., Wang L; Department of Obstetrics & Gynecology, West China Second University Hospital, Sichuan University, Chengdu, China.; Key Laboratory of Birth Defects and Related Diseases of Women and Children, Ministry of Education, Sichuan University, Chengdu, China., Yin D; Department of Obstetrics & Gynecology, West China Second University Hospital, Sichuan University, Chengdu, China.; Key Laboratory of Birth Defects and Related Diseases of Women and Children, Ministry of Education, Sichuan University, Chengdu, China., Chen L; Department of Obstetrics & Gynecology, West China Second University Hospital, Sichuan University, Chengdu, China.; Key Laboratory of Birth Defects and Related Diseases of Women and Children, Ministry of Education, Sichuan University, Chengdu, China., Xie D; Department of Obstetrics & Gynecology, West China Second University Hospital, Sichuan University, Chengdu, China.; Key Laboratory of Birth Defects and Related Diseases of Women and Children, Ministry of Education, Sichuan University, Chengdu, China., Wang J; Department of Obstetrics & Gynecology, West China Second University Hospital, Sichuan University, Chengdu, China.; Key Laboratory of Birth Defects and Related Diseases of Women and Children, Ministry of Education, Sichuan University, Chengdu, China.
Publikováno v:
Molecular genetics & genomic medicine [Mol Genet Genomic Med] 2023 Jun; Vol. 11 (6), pp. e2155. Date of Electronic Publication: 2023 Feb 27.
Autor:
Popp B; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.; Berlin Institute of Health at Charité, Universitätsmedizin Berlin, Center of Functional Genomics, Berlin, Germany., Brugger M; Institute of Human Genetics, Klinikum rechts der Isar, School of Medicine, Technical University of Munich, Munich, Germany., Poschmann S; Division of Neuropediatrics, Clinic for Children and Adolescents Dritter Orden, Munich, Germany., Bartolomaeus T; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany., Radtke M; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany., Hentschel J; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany., Di Donato N; Institute for Clinical Genetics, University Hospital, TU Dresden, Dresden, Germany., Rump A; Institute for Clinical Genetics, University Hospital, TU Dresden, Dresden, Germany., Gburek-Augustat J; Division of Neuropaediatrics, Hospital for Children and Adolescents, University of Leipzig Medical Center, Leipzig, Germany., Graf E; Institute of Human Genetics, Klinikum rechts der Isar, School of Medicine, Technical University of Munich, Munich, Germany., Wagner M; Institute of Human Genetics, Klinikum rechts der Isar, School of Medicine, Technical University of Munich, Munich, Germany.; Institute of Neurogenomics, Helmholtz Zentrum München, Neuherberg, Germany.; Division of Pediatric Neurology, Developmental Medicine and Social Pediatrics, Department of Pediatrics, Dr. von Hauner Children's Hospital, Munich University Hospital (Ludwig Maximilians University), Munich, Germany., Sorge I; Department of Pediatric Radiology, University of Leipzig, Leipzig, Germany., Lemke JR; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.; Center of Rare Diseases, University of Leipzig Medical Center, Leipzig, Germany., Meitinger T; Institute of Human Genetics, Klinikum rechts der Isar, School of Medicine, Technical University of Munich, Munich, Germany., Abou Jamra R; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany., Strehlow V; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany., Brunet T; Institute of Human Genetics, Klinikum rechts der Isar, School of Medicine, Technical University of Munich, Munich, Germany.; Institute of Neurogenomics, Helmholtz Zentrum München, Neuherberg, Germany.
Publikováno v:
Clinical genetics [Clin Genet] 2023 Feb; Vol. 103 (2), pp. 226-230. Date of Electronic Publication: 2022 Oct 20.
Autor:
Blanco Lago R; Hospital Universitario Central de Asturias (HUCA). Oviedo. España., da Silva Mori X; Departamento de Investigación y Psicología en Educación, Facultad de Educación, Universidad Complutense de Madrid. Madrid. España., Cristina BF; Instituto de Genética Médica y Molecular (INGEMM)-IdiPAZ (Instituto de Investigación del Hospital Universitario La Paz). Madrid. España., Málaga Diéguez I; Hospital Universitario Central de Asturias (HUCA). Oviedo. España., Mori Álvarez MLÁ; Departamento de Investigación y Psicología en Educación, Facultad de Educación, Universidad Complutense de Madrid. Madrid. España.; Centro de Investigación Básica en Red de Enfermedades Raras (CIBERER). Instituto de Salud Carlos III. Madrid. España.; ITHACA-European Reference Network. Hospital la Paz. Madrid. España., Graña Barreiro N; Responsable del Área Médica y Directora del Comité Científico, Asociación Española de Síndrome Wolf-Hirschhorn. Madrid. España., Lapunzina Badía P; Departamento de Investigación y Psicología en Educación, Facultad de Educación, Universidad Complutense de Madrid. Madrid. España.; Centro de Investigación Básica en Red de Enfermedades Raras (CIBERER). Instituto de Salud Carlos III. Madrid. España.; ITHACA-European Reference Network. Hospital la Paz. Madrid. España., Nevado Blanco J; Departamento de Investigación y Psicología en Educación, Facultad de Educación, Universidad Complutense de Madrid. Madrid. España.; Centro de Investigación Básica en Red de Enfermedades Raras (CIBERER). Instituto de Salud Carlos III. Madrid. España.; ITHACA-European Reference Network. Hospital la Paz. Madrid. España.
Publikováno v:
Revista espanola de salud publica [Rev Esp Salud Publica] 2022 Jun 08; Vol. 96. Date of Electronic Publication: 2022 Jun 08.
Autor:
Wiel LC; University of Trieste, Piazzale Europa, 1, 34127, Trieste, Italy. luisacortellazzowiel@gmail.com., Bruno I; Institute for Maternal and Child Health - IRCCS Burlo Garofolo, Trieste, Italy., Barbi E; University of Trieste, Piazzale Europa, 1, 34127, Trieste, Italy.; Institute for Maternal and Child Health - IRCCS Burlo Garofolo, Trieste, Italy., Sirchia F; Department of Molecular Medicine, University of Pavia, Pavia, Italy.; IRCCS Mondino Foundation, Pavia, Italy.
Publikováno v:
Italian journal of pediatrics [Ital J Pediatr] 2022 May 12; Vol. 48 (1), pp. 72. Date of Electronic Publication: 2022 May 12.