Zobrazeno 1 - 10
of 1 929
pro vyhledávání: '"megalencephaly"'
Autor:
Foti MRS; Unità di Genetica Medica, Azienda Ospedaliera Sant'Anna, Dip. Scienze Mediche e Dip. Materno-Infantile, 44121 Ferrara, Italy., Tedesco MG; Istituto Malattie Rare 'Mauro Baschirotto', Costozza di Longare, 36100 Vicenza, Italy.; UOSD Genetica Medica e Malattie Rare, Dip. Materno-Infantile, Azienda Ospedaliera di Perugia, 06129 Perugia, Italy., Colavito D; Research & Innovation (R&I Genetics) Srl, 35100 Padova, Italy., Rogaia D; UOSD Genetica Medica e Malattie Rare, Dip. Materno-Infantile, Azienda Ospedaliera di Perugia, 06129 Perugia, Italy., Mencarelli A; UOSD Genetica Medica e Malattie Rare, Dip. Materno-Infantile, Azienda Ospedaliera di Perugia, 06129 Perugia, Italy., Schippa M; UOSD Genetica Medica e Malattie Rare, Dip. Materno-Infantile, Azienda Ospedaliera di Perugia, 06129 Perugia, Italy., Gradassi C; UOSD Genetica Medica e Malattie Rare, Dip. Materno-Infantile, Azienda Ospedaliera di Perugia, 06129 Perugia, Italy., Romani R; UOSD Genetica Medica e Malattie Rare, Dip. Materno-Infantile, Azienda Ospedaliera di Perugia, 06129 Perugia, Italy.; Department of Medicine and Surgery, University of Perugia, 06132 Perugia, Italy., Ardisia C; UOSD Genetica Medica e Malattie Rare, Dip. Materno-Infantile, Azienda Ospedaliera di Perugia, 06129 Perugia, Italy., Prontera P; UOSD Genetica Medica e Malattie Rare, Dip. Materno-Infantile, Azienda Ospedaliera di Perugia, 06129 Perugia, Italy.
Publikováno v:
International journal of molecular sciences [Int J Mol Sci] 2024 Sep 06; Vol. 25 (17). Date of Electronic Publication: 2024 Sep 06.
Autor:
Zhao MF; Department of Cell Biology, School of Life Sciences, Central South University, Changsha, Republic of China., Zhang SL; Peking University China-Japan Friendship School of Clinical Medicine, Beijing, Republic of China., Xiang Y; Department of Cell Biology, School of Life Sciences, Central South University, Changsha, Republic of China., Wang Q; Department of Cell Biology, School of Life Sciences, Central South University, Changsha, Republic of China., Cao GH; Department of Cell Biology, School of Life Sciences, Central South University, Changsha, Republic of China., Zhang PP; Departments of Reproductive Genetics, HeBei General Hospital, Shijiazhuang, Republic of China., Fan LL; Department of Cell Biology, School of Life Sciences, Central South University, Changsha, Republic of China., Yu R; Department of Anesthesiology, The Second Xiangya Hospital, Central South University, Changsha, Republic of China., Li YL; Departments of Reproductive Genetics, HeBei General Hospital, Shijiazhuang, Republic of China.
Publikováno v:
DNA and cell biology [DNA Cell Biol] 2024 Jul; Vol. 43 (7), pp. 325-330. Date of Electronic Publication: 2024 May 03.
Autor:
Renard E; Pediatric Endocrinology Unit, Department of Pediatrics, University Hospital of Nancy, Nancy, France.; INSERM UMR_S 1256, Nutrition, Genetics, and Environmental Risk Exposure (NGERE), Faculty of Medicine of Nancy, University of Lorraine, Nancy, France., Bonnet C; INSERM UMR_S 1256, Nutrition, Genetics, and Environmental Risk Exposure (NGERE), Faculty of Medicine of Nancy, University of Lorraine, Nancy, France.; Genetics Laboratory, University Hospital of Nancy, Nancy, France., Di Patrizio M; Pediatric Endocrinology Unit, Department of Pediatrics, University Hospital of Nancy, Nancy, France., Schmitt E; Department of Neuroradiology, University Hospital of Nancy, Nancy, France., Madkaud AC; Department of Ophthalmology, University Hospital of Nancy, Nancy, France., Chabot C; Pediatric Endocrinology Unit, Department of Pediatrics, University Hospital of Nancy, Nancy, France., Kuchenbuch M; Department of Pediatric Neurology, University Hospital of Nancy, Nancy, France.; University of Lorraine, Nancy, France., Lambert L; INSERM UMR_S 1256, Nutrition, Genetics, and Environmental Risk Exposure (NGERE), Faculty of Medicine of Nancy, University of Lorraine, Nancy, France.; Department of Clinical Genetics, University Hospital of Nancy, Nancy, France.
Publikováno v:
American journal of medical genetics. Part A [Am J Med Genet A] 2024 Jul; Vol. 194 (7), pp. e63585. Date of Electronic Publication: 2024 Mar 08.
Autor:
Jude G; The Warren Alpert Medical School, Brown University, Providence, RI, USA., Slingsby B; Department of Pediatrics, The Warren Alpert Medical School, Brown University, Providence, RI, USA., Cassese JA; Department of Pediatrics, The Warren Alpert Medical School, Brown University, Providence, RI, USA.; Department of Diagnostic Imaging, The Warren Alpert Medical School, Brown University, Providence, RI, USA., Schroeder C; The Warren Alpert Medical School, Brown University, Providence, RI, USA., Moore J; The Warren Alpert Medical School, Brown University, Providence, RI, USA., Barron C; Department of Pediatrics, The Warren Alpert Medical School, Brown University, Providence, RI, USA.
Publikováno v:
Clinical pediatrics [Clin Pediatr (Phila)] 2024 May; Vol. 63 (4), pp. 506-511. Date of Electronic Publication: 2023 Jun 22.
Autor:
Moura SP; 1Division of Plastic and Reconstructive Surgery, University of Wisconsin School of Medicine and Public Health, Madison, Wisconsin.; 2Division of Plastic and Reconstructive Surgery, Boston University School of Medicine, Boston, Massachusetts., Center AD; 1Division of Plastic and Reconstructive Surgery, University of Wisconsin School of Medicine and Public Health, Madison, Wisconsin., Kalluri M; 1Division of Plastic and Reconstructive Surgery, University of Wisconsin School of Medicine and Public Health, Madison, Wisconsin., Blum J; 1Division of Plastic and Reconstructive Surgery, University of Wisconsin School of Medicine and Public Health, Madison, Wisconsin., Shaffrey EC; 1Division of Plastic and Reconstructive Surgery, University of Wisconsin School of Medicine and Public Health, Madison, Wisconsin., Lee S; 1Division of Plastic and Reconstructive Surgery, University of Wisconsin School of Medicine and Public Health, Madison, Wisconsin., Ng JJ; 3Division of Plastic and Reconstructive Surgery, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania; and., Iskandar BJ; 4Department of Neurological Surgery, University of Wisconsin School of Medicine and Public Health, Madison, Wisconsin., Garland CB; 1Division of Plastic and Reconstructive Surgery, University of Wisconsin School of Medicine and Public Health, Madison, Wisconsin., Cho DY; 1Division of Plastic and Reconstructive Surgery, University of Wisconsin School of Medicine and Public Health, Madison, Wisconsin.
Publikováno v:
Journal of neurosurgery. Pediatrics [J Neurosurg Pediatr] 2024 Jun 21; Vol. 34 (3), pp. 221-233. Date of Electronic Publication: 2024 Jun 21 (Print Publication: 2024).
Autor:
Arroyo-Carrera I; Hospital San Pedro de Alcántara, 10003 Cáceres, España., Romero-Peguero R; Hospital San Pedro de Alcántara, 10003 Cáceres, España., Martín-Fernández R; Hospital San Pedro de Alcántara, 10003 Cáceres, España., Ramajo-Polo A; Hospital San Pedro de Alcántara, 10003 Cáceres, España., García-Navas Núñez V; Hospital San Pedro de Alcántara, Cáceres, España.
Publikováno v:
Revista de neurologia [Rev Neurol] 2024 Jun 01; Vol. 78 (11), pp. 323-326.
Autor:
Lazea C; 1st Department of Pediatrics, 'Iuliu Hațieganu' University of Medicine and Pharmacy Cluj-Napoca, 400370 Cluj-Napoca, Romania.; 1st Pediatrics Clinic, Emergency Pediatric Clinical Hospital, 400370 Cluj-Napoca, Romania., Vulturar R; Department of Molecular Sciences, 'Iuliu Hațieganu' University of Medicine and Pharmacy Cluj-Napoca, 400349 Cluj-Napoca, Romania.; Cognitive Neuroscience Laboratory, University Babes-Bolyai, 400015 Cluj-Napoca, Romania.; Association for Innovation in Rare Inflammatory, Metabolic, Genetic Diseases INNOROG, 30E, Făgetului St., 400497 Cluj-Napoca, Romania., Chiș A; Department of Molecular Sciences, 'Iuliu Hațieganu' University of Medicine and Pharmacy Cluj-Napoca, 400349 Cluj-Napoca, Romania.; Cognitive Neuroscience Laboratory, University Babes-Bolyai, 400015 Cluj-Napoca, Romania.; Association for Innovation in Rare Inflammatory, Metabolic, Genetic Diseases INNOROG, 30E, Făgetului St., 400497 Cluj-Napoca, Romania., Encica S; Department of Pathology, 'Niculae Stancioiu' Heart Institute Cluj-Napoca, 19-21 Calea Moților St., 400001 Cluj-Napoca, Romania., Horvat M; Department of Infectious Diseases and Epidemiology, The Clinical Hospital of Infectious Diseases, 'Iuliu Hatieganu' University of Medicine and Pharmacy Cluj-Napoca, 400348 Cluj-Napoca, Romania., Belizna C; UMR CNRS 6015, INSERM U1083, University of Angers, 49100 Angers, France.; Internal Medicine Department Clinique de l'Anjou, Vascular and Coagulation Department, University Hospital Angers, 49100 Angers, France., Damian LO; Association for Innovation in Rare Inflammatory, Metabolic, Genetic Diseases INNOROG, 30E, Făgetului St., 400497 Cluj-Napoca, Romania.; Department of Rheumatology, Center for Rare Musculoskeletal Autoimmune and Autoinflammatory Diseases, Emergency Clinical County Hospital Cluj, 400006 Cluj-Napoca, Romania.; CMI Reumatologie Dr. Damian, 400002 Cluj-Napoca, Romania.
Publikováno v:
International journal of molecular sciences [Int J Mol Sci] 2024 May 20; Vol. 25 (10). Date of Electronic Publication: 2024 May 20.
Autor:
Zhao J; Department of Pathology, University of Utah, Salt Lake City, Utah, USA.; ARUP Laboratories, Salt Lake City, Utah, USA., Longo N; Department of Pathology, University of Utah, Salt Lake City, Utah, USA.; ARUP Laboratories, Salt Lake City, Utah, USA.; Division of Medical Genetics, Department of Pediatrics, University of Utah, Salt Lake City, Utah, USA., Lewis RG; Department of Pathology, University of Utah, Salt Lake City, Utah, USA.; ARUP Laboratories, Salt Lake City, Utah, USA., Nicholas TJ; Department of Human Genetics, Utah Center for Genetic Discovery, University of Utah, Salt Lake City, Utah, USA., Boyden SE; Department of Human Genetics, Utah Center for Genetic Discovery, University of Utah, Salt Lake City, Utah, USA., Andrews A; Division of Medical Genetics, Department of Pediatrics, University of Utah, Salt Lake City, Utah, USA., Larson A; Section of Genetics, Department of Pediatrics, University of Colorado School of Medicine, Aurora, Colorado, USA., Bayrak-Toydemir P; Department of Pathology, University of Utah, Salt Lake City, Utah, USA.; ARUP Laboratories, Salt Lake City, Utah, USA., Botto LD; Division of Medical Genetics, Department of Pediatrics, University of Utah, Salt Lake City, Utah, USA., Mao R; Department of Pathology, University of Utah, Salt Lake City, Utah, USA.; ARUP Laboratories, Salt Lake City, Utah, USA.; Division of Medical Genetics, Department of Pediatrics, University of Utah, Salt Lake City, Utah, USA.
Publikováno v:
American journal of medical genetics. Part A [Am J Med Genet A] 2024 May; Vol. 194 (5), pp. e63516. Date of Electronic Publication: 2024 Jan 02.
Autor:
Nomakuchi TT; Division of Human Genetics, Children's Hospital of Philadelphia, Pennsylvania, United States., Alves CAP; Division of Neuroradiology, Children's Hospital of Philadelphia, Pennsylvania, United States., Beslow LA; Division of Neurology, Children's Hospital of Philadelphia, Pennsylvania, United States.; Department of Neurology, Perelman School of Medicine, University of Pennsylvania, Pennsylvania, United States.; Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Pennsylvania, United States., Zarnow D; Division of Neuroradiology, Children's Hospital of Philadelphia, Pennsylvania, United States.; Department of Radiology Perelman School of Medicine, University of Pennsylvania, Pennsylvania, United States., Goyal N; Department of Pediatrics, Nemours Children's Health and Sidney Kimmel College of Medicine, Thomas Jefferson University, Philadelphia, Pennsylvania, United States., Zackai EH; Division of Human Genetics, Children's Hospital of Philadelphia, Pennsylvania, United States.; Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Pennsylvania, United States., Reynoso Santos FJ; Division of Human Genetics, Children's Hospital of Philadelphia, Pennsylvania, United States.; Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Pennsylvania, United States.
Publikováno v:
Neuropediatrics [Neuropediatrics] 2024 Feb; Vol. 55 (1), pp. 71-74. Date of Electronic Publication: 2023 Mar 13.
Autor:
Donnellan EP; Department of Pediatrics (Neurology Division), Galway University Hospital, University of Galway, Galway, Ireland., O'Brien ST; Department of Pediatrics (Neurology Division), Galway University Hospital, Galway, Ireland., Allen NM; Department of Pediatrics (Neurology Division), Galway University Hospital, University of Galway, Galway, Ireland.
Publikováno v:
The Journal of pediatrics [J Pediatr] 2024 Feb; Vol. 265, pp. 113804. Date of Electronic Publication: 2023 Oct 28.