يعرض 1 - 10 نتائج من 98 نتيجة بحث عن '"Rinaldi, Berardo"', وقت الاستعلام: 1.42s تنقيح النتائج
  1. 1
    دورية أكاديمية
    Optical coherence tomography angiography findings in Williams-Beuren syndrome

    المؤلفون: Nassisi, MarcoAff1, Aff2, IDs00417023063237_cor1, Mainetti, Claudia, Sperti, Andrea, Galmozzi, Guido, Aretti, Andrea, Leone, Gaia, Nicotra, Valeria, Grilli, Federico, Rinaldi, Berardo, Natacci, Federica, Bedeschi, Maria Francesca, Viola, FrancescoAff1, Aff2

    المصدر: Graefe's Archive for Clinical and Experimental Ophthalmology: Incorporating German Journal of Ophthalmology. 262(4):1131-1140

    Full Text Finder
    أضف إلى المفضلة
  2. 2
    كتاب إلكتروني
    Ring Chromosome 14

    المؤلفون: Vaisfeld, AlessandroAff3, Aff4, Crimi, MarcoAff5, Aff6, Rinaldi, BerardoAff7

    المساهمون: Li, Peining, editorAff1, Liehr, Thomas, editorAff2

    المصدر: Human Ring Chromosomes : A Practical Guide for Clinicians and Families. :215-220

    أضف إلى المفضلة
  3. 3
    دورية أكاديمية
    Pitfalls of whole exome sequencing in undefined clinical conditions with a suspected genetic etiology

    المؤلفون: Moresco, Giada, Rondinone, Ornella, Mauri, Alessia, Costanza, Jole, Santaniello, Carlo, Colapietro, Patrizia, Micaglio, Emanuele, Marfia, Giovanni, Pesenti, Chiara, Grilli, Federico, Rinaldi, Berardo, Prada, Elisabetta, Scuvera, Giulietta, Villa, Roberta, Bedeschi, Maria Francesca, Miozzo, Monica RosaAff2, Aff6, IDs1325802201341x_cor16, Milani, Donatella, Fontana, LauraAff2, Aff6

    المصدر: Genes & Genomics. 45(5):637-655

    Full Text Finder
    أضف إلى المفضلة
  4. 4
    دورية أكاديمية
    X-linked neonatal-onset epileptic encephalopathy associated with a gain-of-function variant p.R660T in GRIA3

    المؤلفون: Sun, Jia-Hui, Chen, Jiang, Valenzuela, Fernando Eduardo Ayala, Brown, Carolyn, Masser-Frye, Diane, Jones, Marilyn, Romero, Leslie Patron, Rinaldi, Berardo, Li, Wenhui Laura, Li, Qing-Qing, Wu, Dan, Gerard, Benedicte, Thorpe, Erin, Bayat, Allan, Shi, Yun Stone

    المصدر: PLOS Genetics. 17(6)

    مصطلحات موضوعية: Biological Sciences, Genetics, Brain Disorders, Neurodegenerative, Neurosciences, 2.1 Biological and endogenous factors, Aetiology, Neurological, Amino Acid Sequence, Animals, Cerebellum, Child, Preschool, Egg Proteins, Female, Gain of Function Mutation, Gene Expression, HEK293 Cells, Hippocampus, Humans, Membrane Proteins, Mice, Mice, Inbred ICR, Models, Molecular, Neurons, Primary Cell Culture, Protein Conformation, Receptors, AMPA, Sequence Alignment, Sequence Homology, Amino Acid, Spasms, Infantile, Developmental Biology

    وصف الملف: application/pdf

    URL الوصول: https://escholarship.org/uc/item/1v56z4bn

    أضف إلى المفضلة
  5. 5
    دورية أكاديمية
    SMARCE1-related meningiomas: A clear example of cancer predisposing syndrome

    المؤلفون: Fiorentini, Erika, Giunti, Laura, Di Rita, Andrea, Peraio, Simone, Fonte, Carla, Caporalini, Chiara, Buccoliero, Anna Maria, Censullo, Maria Luigia, Gori, Giulia, Noris, Alice, Pasquariello, Rosa, Battini, Roberta, Pavone, Rossana, Giordano, Flavio, Giglio, Sabrina, Rinaldi, Berardo

    المصدر: In European Journal of Medical Genetics July 2023 66(7)

    View record from ScienceDirect Full Text via ClinicalKey Full Text Finder
    أضف إلى المفضلة
  6. 6
    دورية أكاديمية
    Dysfunction of AMPA receptor GluA3 is associated with aggressive behavior in human

    المؤلفون: Peng, Shi-XiaoAff1, Aff2, Aff3, Pei, JingwenAff1, Aff3, Rinaldi, Berardo, Chen, Jiang, Ge, Yu-HanAff1, Aff3, Jia, Min, Wang, Jun, Delahaye-Duriez, AndréeAff6, Aff7, Aff8, Sun, Jia-HuiAff1, Aff3, Zang, Yan-YuAff1, Aff3, Shi, Yong-Yun, Zhang, Ning, Gao, Xiang, Milani, Donatella, Xu, Xijia, Sheng, Nengyin, Gerard, Benedicte, Zhang, Chen, Bayat, AllanAff14, Aff15, Liu, NaAff10, IDs41380022016598_cor20, Yang, Jian-JunAff2, IDs41380022016598_cor21, Shi, Yun StoneAff1, Aff3, Aff16, IDs41380022016598_cor22

    المصدر: Molecular Psychiatry. 27(10):4092-4102

    Find this article in full text from ProQuest Full Text Finder
    أضف إلى المفضلة
  7. 7
    دورية أكاديمية

    لا يتم عرض هذه النتيجة على الضيوف.

    View this record from ISI Web of Science
    أضف إلى المفضلة
  8. 8
    دورية أكاديمية
    Amelioration of a neurodevelopmental disorder by carbamazepine in a case having a gain-of-function GRIA3 variant

    المؤلفون: Hamanaka, Kohei, Miyoshi, KeitaAff2, Aff3, Sun, Jia-Hui, Hamada, Keisuke, Komatsubara, Takao, Saida, Ken, Tsuchida, NaomiAff1, Aff7, Uchiyama, YuriAff1, Aff7, Fujita, Atsushi, Mizuguchi, Takeshi, Gerard, Benedicte, Bayat, AllanAff9, Aff10, Rinaldi, Berardo, Kato, Mitsuhiro, Tohyama, JunAff6, Aff13, Ogata, Kazuhiro, Shi, Yun Stone, Saito, KuniakiAff2, Aff3, Miyatake, SatokoAff1, Aff14, Matsumoto, NaomichiAff1, IDs00439021024167_cor20

    المصدر: Human Genetics. 141(2):283-293

    Find this article in full text from ProQuest Full Text Finder
    أضف إلى المفضلة
  9. 9
    دورية أكاديمية
    Myoclonic status epilepticus and cerebellar hypoplasia associated with a novel variant in the GRIA3 gene

    المؤلفون: Rinaldi, Berardo, Ge, Yu-HanAff2, Aff3, Freri, Elena, Tucci, AriannaAff5, IDs10048021006661_cor4, Granata, Tiziana, Estienne, Margherita, Sun, Jia-HuiAff2, Aff3, Gérard, Bénédicte, Bayat, AllanAff7, Aff8, Efthymiou, Stephanie, Gervasini, Cristina, Shi, Yun StoneAff2, Aff3, IDs10048021006661_cor12, Houlden, Henry, Marchisio, Paola, Milani, Donatella

    المصدر: neurogenetics. 23(1):27-35

    Find this article in full text from ProQuest Full Text Finder
    أضف إلى المفضلة
  10. 10
    دورية أكاديمية
    The Phenotype-Based Approach Can Solve Cold Cases: The Paradigm of Mosaic Mutations of the CREBBP Gene.

    المؤلفون: Marchetti, Giulia Bruna, Milani, Donatella, Pisciotta, Livia, Pezzoli, Laura, Marchisio, Paola, Rinaldi, Berardo, Iascone, Maria

    المصدر: Genes; Jun2024, Vol. 15 Issue 6, p654, 7p

    Find this article in full text from ProQuest Full Text Finder
    أضف إلى المفضلة
أدوات البحث: أحصل على تغذية RSS – أرسل هذا البحث بالبريد الإلكتروني – حفظ البحث – جدول التنبيهات: لا شيء