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المؤلفون: Subramanian, Subramanian^Aff1, Soundara Rajan, Deepa, Gaesser, Jenna, Wen-Ya Lo, Cecilia, Panigrahy, Ashok

المصدر: Pediatric Radiology. 49(10):1368-1373

المؤلفون: Martina Siracusano, Assia Riccioni, Antonia Baratta, Maurizia Baldi, Paolo Curatolo, Luigi Mazzone

المصدر: Journal of Medical Case Reports, Vol 13, Iss 1, Pp 1-5 (2019)

مصطلحات موضوعية: Greig cephalopolysyndactyly syndrome, Autism, Neuropsychological phenotype, Development, Intellectual disability, Comorbidity, Medicine

وصف الملف: electronic resource

Relation: http://link.springer.com/article/10.1186/s13256-019-2043-6; https://doaj.org/toc/1752-1947

URL الوصول: https://doaj.org/article/900f2bf1127b4943ac0c85ede1ddaad4

المؤلفون: Evelina Siavrienė, Violeta Mikštienė, Darius Radzevičius, Živilė Maldžienė, Tautvydas Rančelis, Gunda Petraitytė, Giedrė Tamulytė, Ingrida Kavaliauskienė, Laurynas Šarkinas, Algirdas Utkus, Vaidutis Kučinskas, Eglė Preikšaitienė

المصدر: Molecular Genetics & Genomic Medicine, Vol 7, Iss 9, Pp n/a-n/a (2019)

مصطلحات موضوعية: functional cDNA analysis, GLI3, Greig cephalopolysyndactyly syndrome, polysyndactyly, preaxial polydactyly type IV, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2324-9269

URL الوصول: https://doaj.org/article/26d7a7481c8e44b3935ea1548ebf84c2

المؤلفون: Saki Ito, Riko Kitazawa, Ryuma Haraguchi, Takeshi Kondo, Ayaka Ouchi, Yasuo Ueda, Sohei Kitazawa

المصدر: Diagnostic Pathology, Vol 13, Iss 1, Pp 1-4 (2018)

مصطلحات موضوعية: GLI3, Hedgehog, Greig cephalopolysyndactyly syndrome, Pallister-hall syndrome, Pathology, RB1-214

وصف الملف: electronic resource

Relation: http://link.springer.com/article/10.1186/s13000-017-0682-8; https://doaj.org/toc/1746-1596

URL الوصول: https://doaj.org/article/7c7017225d254d07b93ea986d7eaefa3

المؤلفون: Hassiba Bouktit, C. Méni, Marine Madrange, Elisa Bayard, Laurent Frenzel, Michel Arock, Olivier Hermine, Christine Bodemer, Leila Maouche-Chretien, Sylvie Fraitag, Ulrich Rüther, Margot Tissandier, Laura Polivka, Anne-Florence Collange, Julien Rossignol, Mélanie Parisot, Christina Gougoula, Rachel Rignault, Smail Hadj-Rabia, Julie Bruneau, Brigitte Bader-Meunier, Nicolas Cagnard, Cristina Bulai Livideanu, Veronique Parietti, Erinn Soucie, Camille Laurent, Ludovic Lhermitte, Patrice Dubreuil, Danielle Canioni, Mélanie Féroul

المصدر: Blood. 138:2396-2407

مصطلحات موضوعية: Somatic cell, Immunology, Mice, SCID, Biochemistry, GLI3, Tumor Cells, Cultured, Animals, Humans, Medicine, Greig Syndrome, Hedgehog Proteins, Systemic mastocytosis, Child, Hedgehog, Cells, Cultured, Greig cephalopolysyndactyly syndrome, business.industry, Cell Biology, Hematology, Acrocephalosyndactylia, medicine.disease, Hedgehog signaling pathway, Mice, Inbred C57BL, Cancer research, business, Haploinsufficiency, Mastocytosis, Signal Transduction

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9922074dc8ce946b16b403d7ed624f46
https://doi.org/10.1182/blood.2020010207

المؤلفون: Siracusano, Martina^{Aff1, Aff2}, Riccioni, Assia^Aff3, Baratta, Antonia^Aff3, Baldi, Maurizia^Aff4, Curatolo, Paolo^Aff3, Mazzone, Luigi^Aff3

المصدر: Journal of Medical Case Reports. 13(1)

المساهمون: Chen, Harold, editor^Aff1

المصدر: Atlas of Genetic Diagnosis and Counseling. :987-992

المؤلفون: Michel Vekemans, Tania Attié-Bitach, Géraldine Van Winckel, Fabienne Giuliano, Amale Achaiaa, Heidi Fodstad, Andrea Superti-Furga, Ahmed El Mouatani, Sandra Whalen, Sophie Kaltenbach, Khaoula Zaafrane-Khachnaoui

المصدر: American Journal of Medical Genetics Part A. 185:3831-3837

مصطلحات موضوعية: Greig cephalopolysyndactyly syndrome, Proband, Genetics, congenital, hereditary, and neonatal diseases and abnormalities, Polydactyly, business.industry, medicine.disease, body regions, symbols.namesake, Polysyndactyly, GLI3, Mendelian inheritance, symbols, Medicine, Allele, business, Genetics (clinical), Dominance (genetics)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::6d586516f490f4a18079da31e5c839f8
https://doi.org/10.1002/ajmg.a.62426

المؤلفون: Sadia Nawaz, Sohail Ahmed, Abdullah, Wasim Ahmad, Hammal Khan, Muhammad Rafiq

المصدر: Klinische Pädiatrie. 233:53-58

مصطلحات موضوعية: 0301 basic medicine, Genetic counseling, Kruppel-Like Transcription Factors, Nerve Tissue Proteins, Biology, Frameshift mutation, 03 medical and health sciences, symbols.namesake, 0302 clinical medicine, Zinc Finger Protein Gli3, GLI3, medicine, Animals, Humans, Missense mutation, Gene, Genetics, Greig cephalopolysyndactyly syndrome, Sanger sequencing, Acrocephalosyndactylia, medicine.disease, Phenotype, 030104 developmental biology, Biological Variation, Population, 030220 oncology & carcinogenesis, Pediatrics, Perinatology and Child Health, symbols

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1f3509752c2145e7777acfe644d9d0b8
https://doi.org/10.1055/a-1223-2489