Zobrazeno 1 - 10
of 5 020
pro vyhledávání: '"Hypertelorism"'
Autor:
Yamada M; Center for Medical Genetics, Keio University School of Medicine, Tokyo, Japan., Mizuno S; Department of Pediatrics, Central Hospital, Aichi Developmental Disability Center, Kasugai, Japan., Inaba M; Department of Pediatrics, Central Hospital, Aichi Developmental Disability Center, Kasugai, Japan., Uehara T; Department of Pediatrics, Central Hospital, Aichi Developmental Disability Center, Kasugai, Japan., Inagaki H; Division of Molecular Genetics, Center for Medical Science, Fujita Health University, Toyoake, Japan., Suzuki H; Center for Medical Genetics, Keio University School of Medicine, Tokyo, Japan., Miya F; Center for Medical Genetics, Keio University School of Medicine, Tokyo, Japan., Takenouchi T; Department of Pediatrics, Keio University School of Medicine, Tokyo, Japan., Kurahashi H; Division of Molecular Genetics, Center for Medical Science, Fujita Health University, Toyoake, Japan., Kosaki K; Center for Medical Genetics, Keio University School of Medicine, Tokyo, Japan.
Publikováno v:
American journal of medical genetics. Part A [Am J Med Genet A] 2024 Aug; Vol. 194 (8), pp. e63614. Date of Electronic Publication: 2024 Apr 02.
Autor:
Shen W; From the Department of Burns and Plastic Surgery, Children's Hospital of Nanjing Medical University, Nanjing, China., Cui J, Ji Y, Liangliang K, Chen J
Publikováno v:
Annals of plastic surgery [Ann Plast Surg] 2024 Oct 01; Vol. 93 (4), pp. 460-463. Date of Electronic Publication: 2024 Jul 09.
Autor:
Mascaro M; Department of Life Science, University of Trieste, Trieste 34127, Italy., D'Ambrosio L; Department of Life Science, University of Trieste, Trieste 34127, Italy., Lazzari E; Institute for Maternal and Child Health - IRCCS Burlo Garofolo, Trieste 34137, Italy., Almoguera B; Department of Genetics and Genomics Fundación Jiménez Díaz University Hospital, Health Research Institute-Fundación Jiménez Díaz University Hospital, Universidad Autónoma de Madrid (IIS-FJD, UAM), Madrid 28040, Spain; Center for Biomedical Network Research on Rare Diseases (CIBERER), Spain., Swafiri ST; Department of Genetics and Genomics Fundación Jiménez Díaz University Hospital, Health Research Institute-Fundación Jiménez Díaz University Hospital, Universidad Autónoma de Madrid (IIS-FJD, UAM), Madrid 28040, Spain; Center for Biomedical Network Research on Rare Diseases (CIBERER), Spain., Zanchetta ME; Institute for Maternal and Child Health - IRCCS Burlo Garofolo, Trieste 34137, Italy. Electronic address: melaniaeva.zanchetta@burlo.trieste.it., Meroni G; Department of Life Science, University of Trieste, Trieste 34127, Italy. Electronic address: gmeroni@units.it.
Publikováno v:
Biochimica et biophysica acta. Molecular basis of disease [Biochim Biophys Acta Mol Basis Dis] 2024 Apr; Vol. 1870 (4), pp. 167126. Date of Electronic Publication: 2024 Mar 18.
Autor:
Goldfarb Yaacobi R; Genetics Institute, Meir Medical Center, Kfar Saba, Israel., Sukenik Halevy R; Genetics Institute, Meir Medical Center, Kfar Saba, Israel.; Sackler School of Medicine, Tel Aviv University, Tel Aviv, Israel.
Publikováno v:
American journal of medical genetics. Part A [Am J Med Genet A] 2024 Apr; Vol. 194 (4), pp. e63503. Date of Electronic Publication: 2023 Dec 20.
Autor:
Chen H; School of Public Health, Gansu University of Traditional Chinese Medicine, Lanzhou, Gansu 730030, China. 1065753301@qq.com., Zhang C, Zhou B, Wang Y, Chen X, Hui L
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 Mar 10; Vol. 41 (3), pp. 363-367.
Autor:
Giacaman A; Dermatology Department, Hospital Universitari Son Espases, Spain., Corral-Magaña O; Dermatology Department, Hospital Universitari Son Espases, Spain., Saus Sarrias C; Anatomical Pathology Department, Hospital Universitari Son Espases, Spain., González-López G; Anatomical Pathology Department, Hospital Universitari Son Espases, Spain., Asensio Landa VJ; Molecular Diagnostics and Clinical Genetics Unit, Hospital Universitari Son Espases, Spain.; Institut d'Investigació Sanitária de les Illes Balears (IdISBa), Spain., Martín-Santiago A; Dermatology Department, Hospital Universitari Son Espases, Spain.
Publikováno v:
Pediatric dermatology [Pediatr Dermatol] 2024 Mar-Apr; Vol. 41 (2), pp. 307-310. Date of Electronic Publication: 2023 Oct 10.
Autor:
Kuroda Y; Division of Medical Genetics, Kanagawa Children's Medical Center, Yokohama, Kanagawa, Japan., Saito Y; Division of Medical Genetics, Kanagawa Children's Medical Center, Yokohama, Kanagawa, Japan., Enomoto Y; Clinical Research Institute, Kanagawa Children's Medical Center, Yokohama, Kanagawa, Japan., Naruto T; Clinical Research Institute, Kanagawa Children's Medical Center, Yokohama, Kanagawa, Japan., Kurosawa K; Division of Medical Genetics, Kanagawa Children's Medical Center, Yokohama, Kanagawa, Japan.
Publikováno v:
American journal of medical genetics. Part A [Am J Med Genet A] 2024 Jan; Vol. 194 (1), pp. 94-99. Date of Electronic Publication: 2023 Aug 30.
Autor:
Frank S; Institute of Biochemistry, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany., Gabassi E; Institute of Biochemistry, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany., Käseberg S; Institute of Human Genetics, University Medical Center of the Johannes Gutenberg University Mainz, Mainz, Germany., Bertin M; Institute of Human Genetics, University Medical Center of the Johannes Gutenberg University Mainz, Mainz, Germany., Zografidou L; Institute of Human Genetics, University Medical Center of the Johannes Gutenberg University Mainz, Mainz, Germany., Pfeiffer D; Institute of Human Genetics, University Medical Center of the Johannes Gutenberg University Mainz, Mainz, Germany., Brennenstuhl H; Institute of Human Genetics, Heidelberg University, Heidelberg, Germany., Falk S; Institute of Biochemistry, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany., Karow M; Institute of Biochemistry, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany marisa.karow@fau.de., Schweiger S; Institute of Human Genetics, University Medical Center of the Johannes Gutenberg University Mainz, Mainz, Germany.
Publikováno v:
Life science alliance [Life Sci Alliance] 2024 Jan 18; Vol. 7 (4). Date of Electronic Publication: 2024 Jan 18 (Print Publication: 2024).
Autor:
Wu J; MOE Key Laboratory of Eco-textiles, Jiangnan University, Wuxi 214122, China., Jiang W; Textile Intelligent Manufacture, Jiangnan University, Wuxi 214122, China., Gu M; Textile Intelligent Manufacture, Jiangnan University, Wuxi 214122, China., Sun F; MOE Key Laboratory of Eco-textiles, Jiangnan University, Wuxi 214122, China.; Laboratory of Soft Fibrous Materials, College of Textiles Science and Engineering, Jiangnan University, Wuxi 214122, China., Han C; MOE Key Laboratory of Eco-textiles, Jiangnan University, Wuxi 214122, China., Gong H; University of Manchester, Manchester M139PL, U.K.
Publikováno v:
ACS applied materials & interfaces [ACS Appl Mater Interfaces] 2023 Dec 27; Vol. 15 (51), pp. 59989-60001. Date of Electronic Publication: 2023 Dec 12.
Autor:
Willison C; North Thames Genomic Laboratory Hub, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK., Ramachandran V; North Thames Genomic Laboratory Hub, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK., Chandler NJ; North Thames Genomic Laboratory Hub, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK., Hillman S; Institute for Women's Health, University College London, London, UK.; University College London Hospitals, London, UK., Ashraf T; Clinical Genetics, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.
Publikováno v:
Prenatal diagnosis [Prenat Diagn] 2023 Dec; Vol. 43 (13), pp. 1674-1677. Date of Electronic Publication: 2023 Dec 07.