-
1دورية أكاديميةNonsense mutation in the novel PERCC1 gene as a genetic cause of congenital diarrhea and enteropathy
المؤلفون: Marek-Yagel, DinaAff1, Aff2, Aff3, Stenke, Emily, Pode-Shakked, BenAff1, Aff3, Aff5, Dunne, CaraAff4, Aff6, Crushell, Ellen, Bryce-Smith, Anthea, McDermott, Michael, O’Sullivan, Maureen J., Veber, Alvit, Krishnamurthy, MansaAff9, Aff10, Wells, James M.Aff5, Aff9, Aff10, Anikster, YairAff1, Aff3, Aff11, Bourke, BillyAff4, Aff12, IDs00439022024861_cor13
المصدر: Human Genetics. 142(5):691-696
-
2دورية أكاديمية
المؤلفون: Himmelreich, Nastassja, Bertoldi, Mariarita, Alfadhel, Majid, Alghamdi, Malak Ali, Anikster, Yair, Bao, Xinhua, Bashiri, Fahad A., Zeev, Bruria Ben, Bisello, Giovanni, Ceylan, Ahmet Cevdet, Chien, Yin-Hsiu, Choy, Yew Sing, Elsea, Sarah H., Flint, Lisa, García-Cazorla, Àngels, Gijavanekar, Charul, Gümüş, Emel Yılmaz, Hamad, Muddathir H., Hişmi, Burcu, Honzik, Tomas, Hübschmann, Oya Kuseyri, Hwu, Wuh-Liang, Ibáñez-Micó, Salvador, Jeltsch, Kathrin, Juliá-Palacios, Natalia, Kasapkara, Çiğdem Seher, Kurian, Manju A., Kusmierska, Katarzyna, Liu, Ning, Ngu, Lock Hock, Odom, John D., Ong, Winnie Peitee, Opladen, Thomas, Oppeboen, Mari, Pearl, Phillip L., Pérez, Belén, Pons, Roser, Rygiel, Agnieszka Magdalena, Shien, Tan Ee, Spaull, Robert, Sykut-Cegielska, Jolanta, Tabarki, Brahim, Tangeraas, Trine, Thöny, Beat, Wassenberg, Tessa, Wen, Yongxin, Yakob, Yusnita, Yin, Jasmine Goh Chew, Zeman, Jiri, Blau, Nenad
المصدر: In Molecular Genetics and Metabolism July 2023 139(3)
-
3دورية أكاديمية
المؤلفون: Wagner, Matias, Skorobogatko, Yuliya, Pode-Shakked, Ben, Powell, Cynthia, Alhaddad, Bader, Seibt, Annette, Barel, Ortal, Heimer, Gali, Hoffmann, Chen, Demmer, Laurie, Perilla-Young, Yezmin, Remke, Marc, Wieczorek, Dagmar, Navaratnarajah, Tharsini, Lichtner, Peter, Klee, Dirk, Shamseldin, Hanan, Al Mutairi, Fuad, Mayatepek, Ertan, Strom, Tim, Meitinger, Thomas, Alkuraya, Fowzan, Anikster, Yair, Distelmaier, Felix, Saltiel, Alan
المصدر: American Journal of Human Genetics. 106(2)
مصطلحات موضوعية: GARNL1, RalA signaling, TULIP1, West syndrome, epilepsy, muscular hypotonia, neurodevelopmental disorder, Alleles, Cell Movement, Cell Proliferation, Child, Preschool, Family, Feeding and Eating Disorders, Female, GTPase-Activating Proteins, Humans, Infant, Male, Muscle Hypotonia, Mutation, Nerve Tissue Proteins, Neurodevelopmental Disorders, Phenotype, Spasms, Infantile
وصف الملف: application/pdf
URL الوصول: https://escholarship.org/uc/item/3j53q1dw
-
4دورية أكاديمية
لا يتم عرض هذه النتيجة على الضيوف.
تسجيل الدخول للوصول الكامل. -
5دورية أكاديمية
المؤلفون: Pode-Shakked, BenAff1, Aff2, Aff3, Aff4, Ben-Moshe, YishayAff1, Aff4, Barel, OrtalAff5, Aff6, Regev, Lilach C.Aff1, Aff4, Kagan, MaayanAff1, Aff4, Eliyahu, AvivaAff4, Aff7, Marek-Yagel, DinaAff4, Aff6, Aff8, Atias-Varon, Danit, Lahav, EinatAff4, Aff9, Issler, NaomiAff4, Aff9, Shlomovitz, OmerAff1, Aff4, Semo Oz, RotemAff1, Aff4, Kol, Nitzan, Mor, Nofar, Bar-Joseph, Ifat, Khavkin, Yulia, Javasky, Elisheva, Beckerman, PazitAff4, Aff10, Greenberg, MeidadAff4, Aff11, Volovelsky, OdedAff12, Aff13, Borovitz, Yael, Davidovits, MiriamAff4, Aff14, Haskin, OrlyAff4, Aff14, Alfandary, HadasAff4, Aff14, Levi, ShelyAff4, Aff14, Kaidar, MaitalAff4, Aff15, Katzir, Ze’evAff16, Aff17, Angel-Korman, AvitalAff16, Aff17, Becker-Cohen, RachelAff18, Aff19, Ben-Shalom, EfratAff18, Aff19, Leiba, AdiAff16, Aff17, Aff20, Aff21, Mor, EytanAff4, Aff22, Dagan, AmitAff4, Aff14, Pessach, Itai M.Aff3, Aff4, Aff23, Lotan, DannyAff4, Aff9, Shashar, MosheAff24, Aff25, Anikster, YairAff4, Aff6, Aff8, Raas-Rothschild, AnnickAff2, Aff4, Rechavi, GideonAff4, Aff5, Aff6, Dekel, BenjaminAff4, Aff9, Aff26, Vivante, AsafAff1, Aff3, Aff4, Aff9, IDs00467021053744_cor41
المصدر: Pediatric Nephrology: Journal of the International Pediatric Nephrology Association. 37(7):1623-1646
-
6دورية أكاديمية
المؤلفون: Oz-Levi, Danit, Olender, Tsviya, Bar-Joseph, Ifat, Zhu, Yiwen, Marek-Yagel, Dina, Barozzi, Iros, Osterwalder, Marco, Alkelai, Anna, Ruzzo, Elizabeth K, Han, Yujun, Vos, Erica SM, Reznik-Wolf, Haike, Hartman, Corina, Shamir, Raanan, Weiss, Batia, Shapiro, Rivka, Pode-Shakked, Ben, Tatarskyy, Pavlo, Milgrom, Roni, Schvimer, Michael, Barshack, Iris, Imai, Denise M, Coleman-Derr, Devin, Dickel, Diane E, Nord, Alex S, Afzal, Veena, van Bueren, Kelly Lammerts, Barnes, Ralston M, Black, Brian L, Mayhew, Christopher N, Kuhar, Matthew F, Pitstick, Amy, Tekman, Mehmet, Stanescu, Horia C, Wells, James M, Kleta, Robert, de Laat, Wouter, Goldstein, David B, Pras, Elon, Visel, Axel, Lancet, Doron, Anikster, Yair, Pennacchio, Len A
المصدر: Nature. 571(7763)
مصطلحات موضوعية: Biological Sciences, Bioinformatics and Computational Biology, Biomedical and Clinical Sciences, Genetics, Digestive Diseases, Biotechnology, Human Genome, 1.1 Normal biological development and functioning, Oral and gastrointestinal, Animals, Chromosomes, Human, Pair 16, Diarrhea, Disease Models, Animal, Enhancer Elements, Genetic, Female, Gene Expression Regulation, Developmental, Genes, Genes, Reporter, Genetic Loci, Humans, Intestines, Male, Mice, Mice, Knockout, Mice, Transgenic, Pedigree, Phenotype, Sequence Deletion, Transcriptional Activation, Transcriptome, Transgenes, General Science & Technology
وصف الملف: application/pdf
URL الوصول: https://escholarship.org/uc/item/6dn666pr
https://escholarship.org/content/qt6dn666pr/qt6dn666pr.pdf -
7دورية أكاديمية
المؤلفون: Steg Saban, Or, Pode-Shakked, Ben, Abu-Libdeh, Bassam, Granot, Maya, Barkai, Galia, Haberman, Yael, Roterman, Inon, Lahad, Avishay, Shouval, Dror S., Weiss, Batia, Marek-Yagel, Dina, Barel, Ortal, Loberman-Nachum, Nurit, Abraham, Smadar, Somech, Raz, Weinstein, David A., Anikster, Yair
المصدر: In European Journal of Medical Genetics June 2022 65(6)
-
8دورية أكاديمية
المؤلفون: Abudi-Sinreich, ShacharAff1, Aff2, Bodine, Steven P., Yokoyama, Tadafumi, Tolman, Nathanial J., Tyrlik, Michal, Testa, Lauren C., Han, Chen G., Dorward, Heidi M., Wincovitch, Stephen M., Anikster, YairAff2, Aff5, Gahl, William A.Aff1, Aff3, Cinar, Resat, Gochuico, Bernadette R., Malicdan, May Christine V.Aff1, Aff3, IDs1293102202002z_cor14
المصدر: Respiratory Research. 23(1)
-
9دورية أكاديمية
المؤلفون: Stenke, Emily, Dunne, Cara, Bryce-Smyth, Anthea, Hurley, Michelle, Pode-Shakked, Ben, Anikster, Yair, Tan, Tricia, Kowalka, Anna, Bech, Paul, Bourke, Billy
المصدر: Annals of Internal Medicine; Aug2024, Vol. 177 Issue 8, p1141-1144, 6p
مصطلحات موضوعية: HORMONE therapy, LIQUID chromatography-mass spectrometry, VASOACTIVE intestinal peptide, SUBCUTANEOUS injections, ENZYME-linked immunosorbent assay, COCAINE-induced disorders, SHORT bowel syndrome
-
10دورية أكاديمية
المؤلفون: Haberman, Yael, BenShoshan, Marina, Di Segni, Ayelet, Dexheimer, Phillip J, Braun, Tzipi, Weiss, Batia, Walters, Thomas D, Baldassano, Robert N, Noe, Joshua D, Markowitz, James, Rosh, Joel, Heyman, Melvin B, Griffiths, Anne M, Crandall, Wallace V, Mack, David R, Baker, Susan S, Kellermayer, Richard, Patel, Ashish, Otley, Anthony, Steiner, Steven J, Gulati, Ajay S, Guthery, Stephen L, LeLeiko, Neal, Moulton, Dedrick, Kirschner, Barbara S, Snapper, Scott, Avivi, Camila, Barshack, Iris, Oliva-Hemker, Maria, Cohen, Stanley A, Keljo, David J, Ziring, David, Anikster, Yair, Aronow, Bruce, Hyams, Jeffrey S, Kugathasan, Subra, Denson, Lee A
المصدر: Inflammatory Bowel Diseases. 24(2)
مصطلحات موضوعية: Biotechnology, Autoimmune Disease, Prevention, Crohn's Disease, Inflammatory Bowel Disease, Digestive Diseases, Genetics, Human Genome, 2.1 Biological and endogenous factors, Aetiology, Adolescent, Caco-2 Cells, Child, Crohn Disease, Down-Regulation, Female, Gene Expression Profiling, Gene Expression Regulation, Neoplastic, Gene Regulatory Networks, Hepatocyte Nuclear Factor 4, Humans, Ileum, Male, Oligonucleotide Array Sequence Analysis, RNA, Long Noncoding, RNA, Messenger, Up-Regulation, Crohn disease, long ncRNA, RNAseq, RNA expression, Clinical Sciences, Gastroenterology & Hepatology
وصف الملف: application/pdf
URL الوصول: https://escholarship.org/uc/item/49v509zj