يعرض 1 - 10 نتائج من 306 نتيجة بحث عن '"Shaag, Avraham"', وقت الاستعلام: 1.11s تنقيح النتائج
  1. 1
    دورية أكاديمية
    Prenatal diagnosis of lanosterol synthase deficiency: Fetal ultrasound findings as a window on family genetics

    المؤلفون: Matza Porges, Sigal, Mor-Shaked, Hagar, Shaag, Avraham, Porat, Shay, Daum, Hagit

    المصدر: In European Journal of Medical Genetics October 2023 66(10)

    View record from ScienceDirect Full Text via ClinicalKey Full Text Finder
    أضف إلى المفضلة
  2. 2
    دورية أكاديمية
    A mutation in POLR3E impairs antiviral immune response and RNA polymerase III

    المؤلفون: Ramanathan, Aravind, Weintraub, Michael, Orlovetskie, Natalie, Serruya, Raphael, Mani, Dhivakar, Marcu, Orly, Stepensky, Polina, Weisblum, Yiska, Djian, Esther, Shaag, Avraham, Revel-Vilk, Shoshana, Fried, Iris, Kotler, Moshe, Rouvinski, Alex, Wolf, Dana, Elpeleg, Orly, Jarrous, Nayef

    المصدر: Proceedings of the National Academy of Sciences of the United States of America, 2020 Sep 01. 117(36), 22113-22121.

    URL الوصول: https://www.jstor.org/stable/26969116

    أضف إلى المفضلة
  3. 3
    دورية أكاديمية
    A novel de novo heterozygous pathogenic variant in the SDHA gene results in childhood onset bilateral optic atrophy and cognitive impairment

    المؤلفون: Zehavi, YoavAff1, Aff2, Saada, AnnAff3, Aff4, Jabaly-Habib, Haneen, Dessau, Moshe, Shaag, Avraham, Elpeleg, OrlyAff3, Aff4, Spiegel, RonenAff1, Aff2

    المصدر: Metabolic Brain Disease. 36(4):581-588

    Find this article in full text from Springer Verlag. Find this article in full text from ProQuest Full Text Finder
    أضف إلى المفضلة
  4. 4
    دورية أكاديمية
    Bacillus Calmette–Guerin (BCG) Vaccine-associated Complications in Immunodeficient Patients Following Stem Cell Transplantation

    المؤلفون: NaserEddin, AdeebAff1, Aff2, Dinur-Schejter, YaelAff1, Aff3, Shadur, BellaAff4, Aff5, Zaidman, Irina, Even-Or, Ehud, Averbuch, Diana, Shamriz, Oded, Tal, Yuval, Shaag, Avraham, Warnatz, KlausAff8, Aff9, Elpeleg, Orly, Stepensky, Polina

    المصدر: Journal of Clinical Immunology: International Journal of Inborn Errors of Immunity and Related Diseases. 41(1):147-162

    Find this article in full text from Springer Verlag. Find this article in full text from ProQuest Full Text Finder
    أضف إلى المفضلة
  5. 5
    دورية أكاديمية
    Clues and challenges in the diagnosis of intermittent maple syrup urine disease

    المؤلفون: Pode-Shakked, Naomi, Korman, Stanley H., Pode-Shakked, Ben, Landau, Yuval, Kneller, Katya, Abraham, Smadar, Shaag, Avraham, Ulanovsky, Igor, Daas, Suha, Saraf-Levy, Talya, Reznik-Wolf, Haike, Vivante, Asaf, Pras, Elon, Almashanu, Shlomo, Anikster, Yair

    المصدر: In European Journal of Medical Genetics June 2020 63(6)

    View record from ScienceDirect Full Text via ClinicalKey Full Text Finder
    أضف إلى المفضلة
  6. 6
    دورية أكاديمية

    لا يتم عرض هذه النتيجة على الضيوف.

    View this record from ISI Web of Science
    أضف إلى المفضلة
  7. 7
    دورية أكاديمية
    MARS variant associated with both recessive interstitial lung and liver disease and dominant Charcot-Marie-Tooth disease

    المؤلفون: Rips, Jonathan, Meyer-Schuman, Rebecca, Breuer, Oded, Tsabari, Reuven, Shaag, Avraham, Revel-Vilk, Shoshana, Reif, Shimon, Elpeleg, Orly, Antonellis, Anthony, Harel, Tamar

    المصدر: In European Journal of Medical Genetics October 2018 61(10):616-620

    View record from ScienceDirect Full Text via ClinicalKey Full Text Finder
    أضف إلى المفضلة
  8. 8
    Early onset combined immunodeficiency and autoimmunity in patients with loss-of-function mutation in LAT

    المؤلفون: Keller, Baerbel, Zaidman, Irina, Sascha Yousefi, O., Hershkovitz, Dov, Stein, Jerry, Unger, Susanne, Schachtrup, Kristina, Sigvardsson, Mikael, Kuperman, Amir A., Shaag, Avraham, Schamel, Wolfgang W., Elpeleg, Orly, Warnatz, Klaus, Stepensky, Polina

    المصدر: Journal of Experimental Medicine. 213(7):1185-1199

    وصف الملف: electronic

    URL الوصول: https://urn.kb.se/resolve?urn=urn:nbn:se:liu:diva-131197
    https://liu.diva-portal.org/smash/get/diva2:971894/FULLTEXT01.pdf

    أضف إلى المفضلة
  9. 9
    كتاب إلكتروني
    Novel Homozygous Missense Mutation in SPG20 Gene Results in Troyer Syndrome Associated with Mitochondrial Cytochrome c Oxidase Deficiency

    المؤلفون: Spiegel, RonenAff1, Aff2, Aff3, Soiferman, DevorahAff4, Aff5, Shaag, AvrahamAff4, Shalev, StavitAff2, Aff3, Elpeleg, OrlyAff4, Saada, AnnAff4, Aff5

    المساهمون: Baumgartner, Matthias R., Series editorAff11, Patterson, Marc, Series editorAff12, Aff19, Rahman, Shamima, Series editorAff13, Aff20, Peters, Verena, Series editorAff14, Aff22, Morava, Eva, Editor-in-chiefAff15, Aff17, Zschocke, Johannes, Series editorAff16, Aff21, Baumgartner, Matthias, editorAff18

    المصدر: JIMD Reports, Volume 33. 33:55-60

    أضف إلى المفضلة
  10. 10
    دورية أكاديمية
    Severe infantile epileptic encephalopathy associated with D-glyceric aciduria: report of a novel case and review

    المؤلفون: Zehavi, Yoav, Mandel, Hanna, Eran, AyeletAff3, Aff4, Ravid, SaritAff4, Aff5, Abu Rashid, Muhammad, Jansen, Erwin E. W., Wamelink, Mirjam M. C., Saada, AnnAff8, Aff9, Shaag, Avraham, Elpeleg, Orly, Spiegel, RonenAff1, Aff4

    المصدر: Metabolic Brain Disease. 34(2):557-563

    Find this article in full text from Springer Verlag. 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