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1تقرير
المؤلفون: Cabet S; Pediatric and Fetal Imaging Department, Femme-Mère-Enfant Hospital, Hospices Civils de Lyon, Claude Bernard Lyon 1 University, Lyon, France.; Institut NeuroMyoGène, CNRS UMR5292, INSERM U1028, Claude Bernard Lyon 1 University, Lyon, France.; Multidisciplinary Center for Prenatal Diagnosis, Femme-Mère-Enfant Hospital, Hospices Civils de Lyon, Claude Bernard Lyon 1 University, Lyon, France., Putoux A; Multidisciplinary Center for Prenatal Diagnosis, Femme-Mère-Enfant Hospital, Hospices Civils de Lyon, Claude Bernard Lyon 1 University, Lyon, France.; Department of Genetics, Groupement Hospitalier Est, Hospices Civils de Lyon, Claude Bernard Lyon 1 University, Lyon, France., Lesca G; Institut NeuroMyoGène, CNRS UMR5292, INSERM U1028, Claude Bernard Lyon 1 University, Lyon, France.; Department of Genetics, Groupement Hospitalier Est, Hospices Civils de Lyon, Claude Bernard Lyon 1 University, Lyon, France., Lesage A; Department of Medical Imaging, CHU Sainte-Justine, Montréal, QC, Canada., Massoud M; Department of Gynecology and Obstetrics, Multidisciplinary Center for Prenatal Diagnosis, CHLS, Hospices Civils de Lyon, Lyon, France., Guibaud L; Pediatric and Fetal Imaging Department, Femme-Mère-Enfant Hospital, Hospices Civils de Lyon, Claude Bernard Lyon 1 University, Lyon, France.; Multidisciplinary Center for Prenatal Diagnosis, Femme-Mère-Enfant Hospital, Hospices Civils de Lyon, Claude Bernard Lyon 1 University, Lyon, France.
مؤلفون مشاركون: Collaborators
المصدر: Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology [Ultrasound Obstet Gynecol] 2024 Feb; Vol. 63 (2), pp. 271-275. Date of Electronic Publication: 2024 Jan 11.
نوع المنشور: Case Reports
بيانات الدورية: Publisher: John Wiley & Sons, Ltd Country of Publication: England NLM ID: 9108340 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1469-0705 (Electronic) Linking ISSN: 09607692 NLM ISO Abbreviation: Ultrasound Obstet Gynecol Subsets: MEDLINE
مواضيع طبية MeSH: Microcephaly*/diagnostic imaging , Polymicrogyria* , Nervous System Malformations* , Lissencephaly*, Child ; Female ; Pregnancy ; Humans ; Retrospective Studies ; Prenatal Diagnosis ; Magnetic Resonance Imaging/methods ; Ultrasonography, Prenatal/methods
SCR Disease Name: Microcephaly with Simplified Gyral Pattern
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2مراجعة
المؤلفون: Leduc-Pessah H; Division of Neurology, Department of Pediatrics, Children's Hospital of Eastern Ontario, Ottawa, Ontario, Canada., White-Brown A; Department of Genetics, Children's Hospital of Eastern Ontario, Ottawa, Ontario, Canada., Miller E; Department of Radiology, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada.; Department of Medical Imaging, Children's Hospital of Eastern Ontario, Ottawa, Ontario, Canada., McMillan HJ; Division of Neurology, Department of Pediatrics, Children's Hospital of Eastern Ontario, Ottawa, Ontario, Canada.; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Ontario, Canada., Boycott KM; Department of Genetics, Children's Hospital of Eastern Ontario, Ottawa, Ontario, Canada.; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Ontario, Canada.
المصدر: American journal of medical genetics. Part A [Am J Med Genet A] 2023 Dec; Vol. 191 (12), pp. 2878-2883. Date of Electronic Publication: 2023 Aug 25.
نوع المنشور: Review; Case Reports; Research Support, Non-U.S. Gov't
بيانات الدورية: Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4833 (Electronic) Linking ISSN: 15524825 NLM ISO Abbreviation: Am J Med Genet A Subsets: MEDLINE
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3دورية أكاديمية
المؤلفون: Tsai MH; Department of Neurology & Department of Medical Research, Kaohsiung Chang Gung Memorial Hospital, Kaohsiung 833, Taiwan.; School of Medicine, Chang Gung University, Taoyuan 333, Taiwan., Lin WC; Institute of Brain Science, College of Medicine, National Yang Ming Chiao Tung University, Taipei 112, Taiwan.; Faculty of Medicine, College of Medicine, National Yang Ming Chiao Tung University, Taipei 112, Taiwan., Chen SY; Department of Neurology & Department of Medical Research, Kaohsiung Chang Gung Memorial Hospital, Kaohsiung 833, Taiwan., Hsieh MY; Division of Pediatric Neurology, Department of Pediatrics, Chang Gung Memorial Hospital, Taipei 105, Taiwan., Nian FS; Institute of Brain Science, College of Medicine, National Yang Ming Chiao Tung University, Taipei 112, Taiwan.; Institute of Clinical Medicine, College of Medicine, National Yang Ming Chiao Tung University, Taipei 112, Taiwan., Cheng HY; Institute of Brain Science, College of Medicine, National Yang Ming Chiao Tung University, Taipei 112, Taiwan., Zhao HJ; Institute of Brain Science, College of Medicine, National Yang Ming Chiao Tung University, Taipei 112, Taiwan., Hung SS; Institute of Anatomy and Cell Biology, National Yang Ming Chiao Tung University, Taipei 112, Taiwan., Hsu CH; Genomics Center for Clinical and Biotechnological Applications, Cancer Progression Research Center, National Yang Ming Chiao Tung University, Taipei 112, Taiwan., Hou PS; Institute of Anatomy and Cell Biology, National Yang Ming Chiao Tung University, Taipei 112, Taiwan., Tung CY; Genomics Center for Clinical and Biotechnological Applications, Cancer Progression Research Center, National Yang Ming Chiao Tung University, Taipei 112, Taiwan., Lee MH; Institute of Clinical Medicine, College of Medicine, National Yang Ming Chiao Tung University, Taipei 112, Taiwan.; Advanced Therapeutics Research Center, National Yang Ming Chiao Tung University, Taipei 112, Taiwan., Tsai JW; Institute of Brain Science, College of Medicine, National Yang Ming Chiao Tung University, Taipei 112, Taiwan.; Advanced Therapeutics Research Center, National Yang Ming Chiao Tung University, Taipei 112, Taiwan.; Brain Research Center, National Yang Ming Chiao Tung University, Taipei 112, Taiwan.; Department of Biological Science and Technology, College of Biological Science and Technology, National Yang Ming Chiao Tung University, Hsinchu 300, Taiwan.
المصدر: Development (Cambridge, England) [Development] 2024 Jan 15; Vol. 151 (2). Date of Electronic Publication: 2024 Jan 18.
نوع المنشور: Journal Article
بيانات الدورية: Publisher: Company Of Biologists Limited Country of Publication: England NLM ID: 8701744 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1477-9129 (Electronic) Linking ISSN: 09501991 NLM ISO Abbreviation: Development Subsets: MEDLINE
مواضيع طبية MeSH: Lissencephaly*/genetics , Lissencephaly*/metabolism, Animals ; Humans ; Mice ; Brain/metabolism ; Cell Movement/genetics ; Cytoskeleton/metabolism ; Microtubule-Associated Proteins/genetics ; Microtubule-Associated Proteins/metabolism
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4دورية أكاديمية
المؤلفون: Igreja L; Department of Neuroradiology, Centro Hospitalar Universitário do Porto, Porto, Portugal. Electronic address: lilianaigreja@gmail.com., Menezes C; Department of Pediatrics, Centro Materno Infantil do Norte, Centro Hospitalar Universitário do Porto, Porto, Portugal., Pinto PS; Department of Neuroradiology, Centro Hospitalar Universitário do Porto, Porto, Portugal., Freixo JP; Center for Predictive and Preventive Genetics, Institute for Molecular and Cell Biology, Universidade do Porto, Porto, Portugal; Instituto de Investigação e Inovação em Saúde (i3S), Universidade do Porto, Porto, Portugal., Chorão R; Instituto de Investigação e Inovação em Saúde (i3S), Universidade do Porto, Porto, Portugal; Department of Neurophysiology, Centro Hospitalar Universitário do Porto, Porto, Portugal.
المصدر: Pediatric neurology [Pediatr Neurol] 2023 Dec; Vol. 149, pp. 137-140. Date of Electronic Publication: 2023 Sep 25.
نوع المنشور: Case Reports; Journal Article
بيانات الدورية: Publisher: Elsevier Science Publishing Country of Publication: United States NLM ID: 8508183 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1873-5150 (Electronic) Linking ISSN: 08878994 NLM ISO Abbreviation: Pediatr Neurol Subsets: MEDLINE
مواضيع طبية MeSH: Nervous System Malformations*/diagnostic imaging , Nervous System Malformations*/genetics , Lissencephaly*/diagnostic imaging , Lissencephaly*/genetics, Humans ; Homozygote ; Mutation/genetics
SCR Disease Name: Cerebellar Hypoplasia
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5دورية أكاديمية
المؤلفون: Tsai MH; Department of Neurology, Kaohsiung Chang Gung Memorial Hospital, Kaohsiung, Taiwan.; School of Medicine, College of Medicine, Chang Gung University, Taoyuan, Taiwan., Ke HC; Institute of Brain Science, College of Medicine, National Yang Ming Chiao Tung University, Taipei, Taiwan.; Department of Medical Education, Linkou Chang Gung Memorial Hospital, Taoyuan, Taiwan., Lin WC; Institute of Brain Science, College of Medicine, National Yang Ming Chiao Tung University, Taipei, Taiwan.; Faculty of Medicine, College of Medicine, National Yang Ming Chiao Tung University, Taipei, Taiwan., Nian FS; Institute of Brain Science, College of Medicine, National Yang Ming Chiao Tung University, Taipei, Taiwan.; Institute of Clinical Medicine, College of Medicine, National Yang Ming Chiao Tung University, Taipei, Taiwan., Huang CW; Institute of Brain Science, College of Medicine, National Yang Ming Chiao Tung University, Taipei, Taiwan.; Institute of Clinical Medicine, College of Medicine, National Yang Ming Chiao Tung University, Taipei, Taiwan.; Advanced Therapeutics Research Center, National Yang Ming Chiao Tung University, Taipei, Taiwan., Cheng HY; Institute of Brain Science, College of Medicine, National Yang Ming Chiao Tung University, Taipei, Taiwan., Hsu CS; Genomics Center for Clinical and Biotechnological Applications, Cancer Progression Research Center, National Yang Ming Chiao Tung University, Taipei, Taiwan., Granata T; Department of Paediatric Neuroscience, European Reference Network EPIcare, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy., Chang CH; Institute of Brain Science, College of Medicine, National Yang Ming Chiao Tung University, Taipei, Taiwan., Castellotti B; Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy., Lin SY; Department of Biotechnology and Laboratory Science in Medicine, National Yang Ming Chiao Tung University, Taipei, Taiwan., Doniselli FM; Neuroradiology Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy., Lu CJ; Faculty of Medicine, College of Medicine, National Yang Ming Chiao Tung University, Taipei, Taiwan., Franceschetti S; Integrated Diagnostics for Epilepsy, Department of Diagnostic and Technology, European Reference Network EPIcare, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy., Ragona F; Department of Paediatric Neuroscience, European Reference Network EPIcare, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy., Hou PS; Institute of Anatomy and Cell Biology, College of Medicine, National Yang Ming Chiao Tung University, Taipei, Taiwan.; Brain Research Center, National Yang Ming Chiao Tung University, Taipei, Taiwan., Canafoglia L; Integrated Diagnostics for Epilepsy, Department of Diagnostic and Technology, European Reference Network EPIcare, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy., Tung CY; Advanced Therapeutics Research Center, National Yang Ming Chiao Tung University, Taipei, Taiwan., Lee MH; Institute of Clinical Medicine, College of Medicine, National Yang Ming Chiao Tung University, Taipei, Taiwan.; Advanced Therapeutics Research Center, National Yang Ming Chiao Tung University, Taipei, Taiwan., Wang WJ; Advanced Therapeutics Research Center, National Yang Ming Chiao Tung University, Taipei, Taiwan.; Institute of Biochemistry and Molecule Biology, College of Life Science, National Yang Ming Chiao Tung University, Taipei, Taiwan., Tsai JW; Institute of Brain Science, College of Medicine, National Yang Ming Chiao Tung University, Taipei, Taiwan. tsaijw@nycu.edu.tw.; Advanced Therapeutics Research Center, National Yang Ming Chiao Tung University, Taipei, Taiwan. tsaijw@nycu.edu.tw.; Brain Research Center, National Yang Ming Chiao Tung University, Taipei, Taiwan. tsaijw@nycu.edu.tw.; Department of Biological Science and Technology, College of Biological Science and Technology, National Yang Ming Chiao Tung University, Hsinchu, Taiwan. tsaijw@nycu.edu.tw.
المصدر: Acta neuropathologica [Acta Neuropathol] 2024 Jan 09; Vol. 147 (1), pp. 13. Date of Electronic Publication: 2024 Jan 09.
نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't
بيانات الدورية: Publisher: Springer Verlag Country of Publication: Germany NLM ID: 0412041 Publication Model: Electronic Cited Medium: Internet ISSN: 1432-0533 (Electronic) Linking ISSN: 00016322 NLM ISO Abbreviation: Acta Neuropathol Subsets: MEDLINE
مواضيع طبية MeSH: Lissencephaly*/genetics, Humans ; Cell Movement/genetics ; Cell Proliferation ; Cerebral Cortex ; Dyneins/genetics ; Carrier Proteins ; Microtubule-Associated Proteins/genetics
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6دورية أكاديمية
المؤلفون: Uctepe E; Acibadem Ankara Tissue Typing Laboratory, Ankara, Türkiye., Vona B; Institute of Human Genetics, University Medical Center Göttingen, Heinrich-Düker-Weg 12, 37073, Göttingen, Germany.; Institute for Auditory Neuroscience and InnerEarLab, University Medical Center Göttingen, Robert-Koch-Str. 40, 37075, Göttingen, Germany., Esen FN; Acibadem Labgen Genetic Diagnosis Center, Istanbul, Türkiye., Sonmez FM; Department of Child Neurology, Faculty of Medicine, Retired lecturer, Karadeniz Technical University, Trabzon, Türkiye.; Private Office, Ankara, Türkiye., Smol T; Institut de Génétique Médicale, Université de Lille, ULR7364 RADEME, CHU Lille, F-59000, Lille, France., Tümer S; Acibadem Labgen Genetic Diagnosis Center, Istanbul, Türkiye., Mancılar H; Acibadem Labgen Genetic Diagnosis Center, Istanbul, Türkiye., Geylan Durgun DE; Ultramar Medical Imaging Center, Ankara, Türkiye., Boute O; Clinique de Génétique, Université de Lille, ULR7364 RADEME, CHU Lille, F-59000, Lille, France., Moghbeli M; Department of Medical Genetics and Molecular Medicine, School of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran., Ghayoor Karimiani E; Molecular and Clinical Sciences Institute, St. George's, University of London, Cranmer Terrace, London, SW17 0RE, UK.; Department of Medical Genetics, Next Generation Genetic Polyclinic, Mashhad, Iran., Hashemi N; Department of Pediatrics, School of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran., Bakhshoodeh B; Mashhad University of Medical Sciences, Mashhad, Iran., Kim HG; Neurological Disorders Research Center, Qatar Biomedical Research Institute, Hamad Bin Khalifa University, Doha, Qatar.; College of Health and Life Sciences, Hamad Bin Khalifa University, Doha, Qatar., Maroofian R; Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, University College London, London, UK., Yesilyurt A; Acibadem Labgen Genetic Diagnosis Center, Istanbul, Türkiye. ahmet.yesilyurt@acibademlabmed.com.tr.; Acibadem Maslak Hospital, Istanbul, Türkiye. ahmet.yesilyurt@acibademlabmed.com.tr.
المصدر: European journal of human genetics : EJHG [Eur J Hum Genet] 2024 Jan; Vol. 32 (1), pp. 52-60. Date of Electronic Publication: 2023 Oct 26.
نوع المنشور: Journal Article
بيانات الدورية: Publisher: Nature Publishing Group Country of Publication: England NLM ID: 9302235 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1476-5438 (Electronic) Linking ISSN: 10184813 NLM ISO Abbreviation: Eur J Hum Genet Subsets: MEDLINE
مواضيع طبية MeSH: Lissencephaly*/diagnostic imaging , Lissencephaly*/genetics , Neurodevelopmental Disorders*/genetics, Humans ; Caspase 2/genetics ; Alleles ; Codon, Nonsense ; Phenotype ; Cysteine Endopeptidases/genetics
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المصدر: Development (Cambridge, England) [Development] 2024 Jan 15; Vol. 151 (2). Date of Electronic Publication: 2024 Jan 18.
نوع المنشور: Interview
بيانات الدورية: Publisher: Company Of Biologists Limited Country of Publication: England NLM ID: 8701744 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1477-9129 (Electronic) Linking ISSN: 09501991 NLM ISO Abbreviation: Development Subsets: MEDLINE
مواضيع طبية MeSH: Lissencephaly*, Humans
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8دورية أكاديمية
المؤلفون: Keith J; Laboratory Medicine and Molecular Diagnostics, Sunnybrook Health Sciences Centre, Laboratory Medicine and Pathobiology, University of Toronto, Toronto, Ontario, Canada., Shannon P; Pathology and Laboratory Medicine, Mount Sinai Hospital, Laboratory Medicine and Pathobiology, University of Toronto, Toronto, Ontario, Canada.
المصدر: Neuropathology and applied neurobiology [Neuropathol Appl Neurobiol] 2023 Oct; Vol. 49 (5), pp. e12939.
نوع المنشور: Journal Article
بيانات الدورية: Publisher: Blackwell Scientific Publications Country of Publication: England NLM ID: 7609829 Publication Model: Print Cited Medium: Internet ISSN: 1365-2990 (Electronic) Linking ISSN: 03051846 NLM ISO Abbreviation: Neuropathol Appl Neurobiol Subsets: MEDLINE
مواضيع طبية MeSH: Cobblestone Lissencephaly*/pathology , Lissencephaly*/genetics , Lissencephaly*/pathology, Humans ; Brain/pathology
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9دورية أكاديمية
المؤلفون: Yehuda B; From the Sagol Brain Institute (B.Y., A.R., D.L.-S., N.A., O.B.-Z., D.B.B.), Tel Aviv Sourasky Medical Center, Tel Aviv, Israel.; Sagol School of Neuroscience (B.Y., L.B.-S., D.B.B.), Tel Aviv University, Tel Aviv, Israel., Rabinowich A; From the Sagol Brain Institute (B.Y., A.R., D.L.-S., N.A., O.B.-Z., D.B.B.), Tel Aviv Sourasky Medical Center, Tel Aviv, Israel.; Sackler Faculty of Medicine (A.R., L.B.-S., D.B.B.), Tel Aviv University, Tel Aviv, Israel.; Division of Radiology (A.R., L.B.-S.), Tel Aviv Sourasky Medical Center, Tel Aviv, Israel., Link-Sourani D; From the Sagol Brain Institute (B.Y., A.R., D.L.-S., N.A., O.B.-Z., D.B.B.), Tel Aviv Sourasky Medical Center, Tel Aviv, Israel., Avisdris N; From the Sagol Brain Institute (B.Y., A.R., D.L.-S., N.A., O.B.-Z., D.B.B.), Tel Aviv Sourasky Medical Center, Tel Aviv, Israel.; School of Computer Science and Engineering (N.A., L.J.), The Hebrew University of Jerusalem, Jerusalem, Israel., Ben-Zvi O; From the Sagol Brain Institute (B.Y., A.R., D.L.-S., N.A., O.B.-Z., D.B.B.), Tel Aviv Sourasky Medical Center, Tel Aviv, Israel., Specktor-Fadida B; School of Computer Science and Engineering (B.S.-F.), The Hebrew University of Jerusalem, Israel., Joskowicz L; School of Computer Science and Engineering (N.A., L.J.), The Hebrew University of Jerusalem, Jerusalem, Israel., Ben-Sira L; Sagol School of Neuroscience (B.Y., L.B.-S., D.B.B.), Tel Aviv University, Tel Aviv, Israel.; Sackler Faculty of Medicine (A.R., L.B.-S., D.B.B.), Tel Aviv University, Tel Aviv, Israel.; Division of Radiology (A.R., L.B.-S.), Tel Aviv Sourasky Medical Center, Tel Aviv, Israel., Miller E; Department of Medical Imaging (E.M.), Children's Hospital of Eastern Ontario, University of Ottawa, Ottawa, Ontario, Canada., Ben Bashat D; From the Sagol Brain Institute (B.Y., A.R., D.L.-S., N.A., O.B.-Z., D.B.B.), Tel Aviv Sourasky Medical Center, Tel Aviv, Israel dafnab@tlvmc.gov.il.; Sagol School of Neuroscience (B.Y., L.B.-S., D.B.B.), Tel Aviv University, Tel Aviv, Israel.; Sackler Faculty of Medicine (A.R., L.B.-S., D.B.B.), Tel Aviv University, Tel Aviv, Israel.
المصدر: AJNR. American journal of neuroradiology [AJNR Am J Neuroradiol] 2023 Dec 11; Vol. 44 (12), pp. 1432-1439. Date of Electronic Publication: 2023 Dec 11.
نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't
بيانات الدورية: Publisher: American Society of Neuroradiology Country of Publication: United States NLM ID: 8003708 Publication Model: Electronic Cited Medium: Internet ISSN: 1936-959X (Electronic) Linking ISSN: 01956108 NLM ISO Abbreviation: AJNR Am J Neuroradiol Subsets: MEDLINE
مواضيع طبية MeSH: Polymicrogyria*/diagnostic imaging , Lissencephaly*/diagnostic imaging, Female ; Humans ; Retrospective Studies ; Brain/diagnostic imaging ; Magnetic Resonance Imaging/methods ; Fetus/diagnostic imaging
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10دورية أكاديمية
المؤلفون: Abrunzo R; Clinical Evaluator, TNPEE and MSc in Rehabilitation Sciences of the Health Professions, Fondazione Serena Onlus - Centro Clinico NeMO, ASST Grande Ospedale Metropolitano Niguarda, Milan, Italy.
المصدر: Neurocase [Neurocase] 2023 Aug; Vol. 29 (4), pp. 103-112. Date of Electronic Publication: 2024 May 03.
نوع المنشور: Case Reports; Journal Article
بيانات الدورية: Publisher: Routledge Country of Publication: England NLM ID: 9511374 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1465-3656 (Electronic) Linking ISSN: 13554794 NLM ISO Abbreviation: Neurocase Subsets: MEDLINE
مواضيع طبية MeSH: Lissencephaly*/complications , Lissencephaly*/diagnosis, Humans ; 1-Alkyl-2-acetylglycerophosphocholine Esterase ; Male ; Female ; Child, Preschool ; Child ; Microtubule-Associated Proteins