-
1دورية أكاديمية
المؤلفون: Chai, Guoliang, Szenker-Ravi, Emmanuelle, Chung, Changuk, Li, Zhen, Wang, Lu, Khatoo, Muznah, Marshall, Trevor, Jiang, Nan, Yang, Xiaoxu, McEvoy-Venneri, Jennifer, Stanley, Valentina, Anzenberg, Paula, Lang, Nhi, Wazny, Vanessa, Yu, Jia, Virshup, David M, Nygaard, Rie, Mancia, Filippo, Merdzanic, Rijad, Toralles, Maria BP, Pitanga, Paula ML, Puri, Ratna D, Hernan, Rebecca, Chung, Wendy K, Bertoli-Avella, Aida M, Al-Sannaa, Nouriya, Zaki, Maha S, Willert, Karl, Reversade, Bruno, Gleeson, Joseph G
المصدر: New England Journal of Medicine. 385(14)
مصطلحات موضوعية: Biotechnology, Rare Diseases, Genetics, Human Genome, Brain Disorders, Pediatric Research Initiative, Congenital Structural Anomalies, Pediatric, Aetiology, 2.1 Biological and endogenous factors, Abnormalities, Multiple, Animals, Congenital Abnormalities, Disease Models, Animal, Fibroblasts, Gene Knock-In Techniques, Genes, Recessive, Genetic Pleiotropy, Humans, Intracellular Signaling Peptides and Proteins, Mice, Mice, Transgenic, Mutation, Pedigree, Phenotype, Receptors, G-Protein-Coupled, Syndrome, Wnt Proteins, Wnt Signaling Pathway, Medical and Health Sciences, General & Internal Medicine
وصف الملف: application/pdf
URL الوصول: https://escholarship.org/uc/item/61r0j65q
-
2دورية أكاديمية
المؤلفون: Szenker-Ravi, EmmanuelleAff1, IDs41588021009704_cor1, Ott, Tim, Khatoo, Muznah, de Bellaing, Anne Moreau, Goh, Wei Xuan, Chong, Yan LingAff4, Aff34, Beckers, AnjaAff5, Aff6, Kannesan, Darshini, Louvel, GuillaumeAff7, Aff35, Anujan, PriyankaAff4, Aff36, Ravi, Vydianathan, Bonnard, Carine, Moutton, Sébastien, Schoen, Patric, Fradin, Mélanie, Colin, Estelle, Megarbane, AndréAff13, Aff14, Daou, Linda, Chehab, GhassanAff15, Aff16, Di Filippo, Sylvie, Rooryck, Caroline, Deleuze, Jean-François, Boland, Anne, Arribard, Nicolas, Eker, Rukiye, Tohari, Sumanty, Ng, Alvin Yu-Jin, Rio, MarlèneAff23, Aff24, Lim, Chun TeckAff25, Aff37, Eisenhaber, BirgitAff25, Aff26, Eisenhaber, FrankAff25, Aff26, Aff27, Venkatesh, ByrappaAff4, Aff28, Amiel, JeanneAff23, Aff29, Crollius, Hugues Roest, Gordon, Christopher T., Gossler, AchimAff5, Aff6, Roy, SudiptoAff4, Aff28, Aff30, Attie-Bitach, TaniaAff23, Aff31, Blum, MartinAff2, IDs41588021009704_cor39, Bouvagnet, PatriceAff32, IDs41588021009704_cor40, Reversade, BrunoAff1, Aff4, Aff28, Aff33, IDs41588021009704_cor41
المصدر: Nature Genetics. 54(1):62-72
-
3دورية أكاديمية
المؤلفون: Suter, Manuel Adrian, Tan, Nikki Y., Thiam, Chung Hwee, Khatoo, Muznah, MacAry, Paul A., Angeli, Veronique, Gasser, StephanAff1, Aff2, Zhang, Y. L.Aff1
المصدر: Scientific Reports. 11(1)
-
4دورية أكاديمية
المؤلفون: Szenker-Ravi, EmmanuelleAff1, IDs41588022010538_cor1, Ott, Tim, Khatoo, Muznah, de Bellaing, Anne Moreau, Goh, Wei Xuan, Chong, Yan LingAff4, Aff34, Beckers, AnjaAff5, Aff6, Kannesan, Darshini, Louvel, GuillaumeAff7, Aff35, Anujan, PriyankaAff4, Aff36, Ravi, Vydianathan, Bonnard, Carine, Moutton, Sébastien, Schoen, Patric, Fradin, Mélanie, Colin, Estelle, Megarbane, AndréAff13, Aff14, Daou, Linda, Chehab, GhassanAff15, Aff16, Di Filippo, Sylvie, Rooryck, Caroline, Deleuze, Jean-François, Boland, Anne, Arribard, Nicolas, Eker, Rukiye, Tohari, Sumanty, Ng, Alvin Yu-Jin, Rio, MarlèneAff23, Aff24, Lim, Chun TeckAff25, Aff37, Eisenhaber, BirgitAff25, Aff26, Eisenhaber, FrankAff25, Aff26, Aff27, Venkatesh, ByrappaAff4, Aff28, Amiel, JeanneAff23, Aff29, Crollius, Hugues Roest, Gordon, Christopher T., Gossler, AchimAff5, Aff6, Roy, SudiptoAff4, Aff28, Aff30, Attie-Bitach, TaniaAff23, Aff31, Blum, MartinAff2, IDs41588022010538_cor39, Bouvagnet, PatriceAff32, IDs41588022010538_cor40, Reversade, BrunoAff1, Aff4, Aff28, Aff33, IDs41588022010538_cor41
المصدر: Nature Genetics. 54(6):906-906
-
5دورية أكاديمية
المؤلفون: Szenker-Ravi, Emmanuelle, Altunoglu, Umut, Leushacke, Marc, Bosso-Lefèvre, CéliaAff1, Aff3, Khatoo, Muznah, Thi Tran, Hong, Naert, Thomas, Noelanders, Rivka, Hajamohideen, Amin, Beneteau, Claire, de Sousa, Sergio B.Aff6, Aff7, Karaman, Birsen, Latypova, Xenia, Başaran, Seher, Yücel, Esra Börklü, Tan, Thong Teck, Vlaminck, LenaAff4, Aff17, Nayak, Shalini S., Shukla, Anju, Girisha, Katta Mohan, Le Caignec, CédricAff5, Aff10, Soshnikova, Natalia, Uyguner, Zehra Oya, Vleminckx, KrisAff4, Aff16, Barker, NickAff1, Aff12, Aff13, Kayserili, HülyaAff2, Aff8, Reversade, BrunoAff1, Aff3, Aff8, Aff14, Aff15
المصدر: Nature: International weekly journal of science. 557(7706):564-569
-
6دورية أكاديمية
المؤلفون: Koo, Christine Xing'er, Kobiyama, Kouji, Shen, Yu J., LeBert, Nina, Ahmad, Shandar **, Khatoo, Muznah, Aoshi, Taiki, Gasser, Stephan, Ishii, Ken J.
المصدر: In Journal of Biological Chemistry 20 March 2015 290(12):7463-7473
-
7دورية أكاديمية
لا يتم عرض هذه النتيجة على الضيوف.
تسجيل الدخول للوصول الكامل. -
8دورية أكاديمية
المؤلفون: Szenker-Ravi, Emmanuelle, Altunoglu, Umut, Leushacke, Marc, Bosso-Lefèvre, CéliaAff1, Aff3, Khatoo, Muznah, Thi Tran, Hong, Naert, Thomas, Noelanders, Rivka, Hajamohideen, Amin, Beneteau, Claire, de Sousa, Sergio B.Aff6, Aff7, Karaman, Birsen, Latypova, Xenia, Başaran, Seher, Yücel, Esra Börklü, Tan, Thong Teck, Vlaminck, LenaAff4, Aff17, Nayak, Shalini S., Shukla, Anju, Girisha, Katta Mohan, Le Caignec, CédricAff5, Aff10, Soshnikova, Natalia, Uyguner, Zehra Oya, Vleminckx, KrisAff4, Aff16, Barker, NickAff1, Aff12, Aff13, Kayserili, HülyaAff2, Aff8, Reversade, BrunoAff1, Aff3, Aff8, Aff14, Aff15
المصدر: Nature: International weekly journal of science. 561(7722):E7-E7
-
9دورية أكاديمية
المؤلفون: Kariminejad, Ariana, Ghaderi‐Sohi, Siavash, Keshavarz, Elham, Hashemi, Seyed Abolghasem, Parsimehr, Elham, Szenker‐Ravi, Emmanuelle, Khatoo, Muznah, Faraji Zonooz, Mehrshid, Reversade, Bruno, Najmabadi, Hossein, Hennekam, Raoul C.
المصدر: Clinical Genetics; Jun2020, Vol. 97 Issue 6, p915-919, 5p, 1 Color Photograph, 1 Graph
مصطلحات موضوعية: HOMOZYGOSITY, HETEROZYGOSITY, GENETIC counseling, SYNDROMES, FAMILY counseling, FETUS
-
10دورية أكاديمية
لا يتم عرض هذه النتيجة على الضيوف.
تسجيل الدخول للوصول الكامل.