يعرض 1 - 3 نتائج من 3 نتيجة بحث عن '"Ronzani, Sara"', وقت الاستعلام: 0.66s تنقيح النتائج
  1. 1
    دورية أكاديمية
    The Usefulness of a Targeted Next Generation Sequencing Gene Panel in Providing Molecular Diagnosis to Patients With a Broad Spectrum of Neurodevelopmental Disorders

    المؤلفون: Mellone, Simona, Puricelli, Chiara, Vurchio, Denise, Ronzani, Sara, Favini, Simone, Maruzzi, Arianna, Peruzzi, Cinzia, Papa, Amanda, Spano, Alice, Sirchia, Fabio, Mandrile, Giorgia, Pelle, Alessandra, Rasmini, Paolo, Vercellino, Fabiana, Zonta, Andrea, Rabbone, Ivana, Dianzani, Umberto, Viri, Maurizio, Giordano, Mara

    المساهمون: Mellone, Simona, Puricelli, Chiara, Vurchio, Denise, Ronzani, Sara, Favini, Simone, Maruzzi, Arianna, Peruzzi, Cinzia, Papa, Amanda, Spano, Alice, Sirchia, Fabio, Mandrile, Giorgia, Pelle, Alessandra, Rasmini, Paolo, Vercellino, Fabiana, Zonta, Andrea, Rabbone, Ivana, Dianzani, Umberto, Viri, Maurizio, Giordano, Mara

    مصطلحات موضوعية: NGS gene panel, autism, epilepsy, intellectual disability, neurodevelopmental disorders

    وصف الملف: ELETTRONICO

    العلاقة: info:eu-repo/semantics/altIdentifier/pmid/36035117; info:eu-repo/semantics/altIdentifier/wos/WOS:000844341200001; volume:13; firstpage:875182; journal:FRONTIERS IN GENETICS; http://hdl.handle.net/11579/142719Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85136967017

    الإتاحة: https://doi.org/10.3389/fgene.2022.875182Test
    http://hdl.handle.net/11579/142719Test

    View record in BASE

    أضف إلى المفضلة
  2. 2
    دورية أكاديمية
    Co-Occurrence of a Pathogenic HSD3B2 Variant and a Duplication on 10q22.3-q23.2 Detected in Newborn Twins with Salt-Wasting Congenital Adrenal Hyperplasia.

    المؤلفون: Mellone, Simona, Bertelli, Enrica, Roviglione, Barbara, Vurchio, Denise, Ronzani, Sara, Secco, Andrea, Felici, Enrico, Strozzi, Mariachiara Martina, Schena, Federico, Giordano, Mara

    المصدر: Genes; Dec2022, Vol. 13 Issue 12, p2190, 10p

    مصطلحات موضوعية: ADRENOGENITAL syndrome, SEX differentiation disorders, VULVA, NEWBORN infants, ADRENAL glands, ADRENAL cortex, MALE reproductive organs

    النص الكامل

    أضف إلى المفضلة
  3. 3
    دورية أكاديمية
    A Long Contiguous Stretch of Homozygosity Disclosed a Novel STAG3 Biallelic Pathogenic Variant Causing Primary Ovarian Insufficiency: A Case Report and Review of the Literature.

    المؤلفون: Mellone, Simona, Zavattaro, Marco, Vurchio, Denise, Ronzani, Sara, Caputo, Marina, Leone, Ilaria, Prodam, Flavia, Giordano, Mara

    المصدر: Genes; Nov2021, Vol. 12 Issue 11, p1709, 1p

    مصطلحات موضوعية: HOMOZYGOSITY, GENETIC variation, LITERATURE reviews, MALE infertility, AMINO acids, MEIOSIS, INFERTILITY

    النص الكامل

    أضف إلى المفضلة
أدوات البحث: أحصل على تغذية RSS — أرسل هذا البحث بالبريد الإلكتروني — حفظ البحث