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1دورية أكاديمية
المؤلفون: Zhang, Hanmeng, Daheron, Laurence, Cerna-Chavez, Rodrigo, Place, Emily M., Huckfeldt, Rachel M., Pierce, Eric A., Garita-Hernandez, Marcela
المصدر: Stem Cell Research ; volume 74, page 103280 ; ISSN 1873-5061
مصطلحات موضوعية: Cell Biology, Developmental Biology, General Medicine
الإتاحة: https://doi.org/10.1016/j.scr.2023.103280Test
https://api.elsevier.com/content/article/PII:S1873506123002660?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S1873506123002660?httpAccept=text/plainTest -
2دورية أكاديمية
المؤلفون: Hauser, Blake M., Luo, Yuyang, Nathan, Anusha, Al-Moujahed, Ahmad, Vavvas, Demetrios G., Comander, Jason, Pierce, Eric A., Place, Emily M., Bujakowska, Kinga M., Gaiha, Gaurav D., Rossin, Elizabeth J.
المصدر: NPJ Genomic Medicine; 5/27/2024, Vol. 9 Issue 1, p1-11, 11p
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3دورية أكاديمية
المؤلفون: Wojcik, Monica H, Lemire, Gabrielle, Berger, Eva, Zaki, Maha S, Wissmann, Mariel, Win, Wathone, White, Susan M, Weisburd, Ben, Wieczorek, Dagmar, Waddell, Leigh B, Verboon, Jeffrey M, VanNoy, Grace E, Töpf, Ana, Tan, Tiong Yang, Syrbe, Steffen, Strehlow, Vincent, Straub, Volker, Stenton, Sarah L, Snow, Hana, Singer-Berk, Moriel, Silver, Josh, Shril, Shirlee, Seaby, Eleanor G, Schneider, Ronen, Sankaran, Vijay G, Sanchis-Juan, Alba, Russell, Kathryn A, Reinson, Karit, Ravenscroft, Gianina, Radtke, Maximilian, Popp, Denny, Polster, Tilman, Platzer, Konrad, Pierce, Eric A, Place, Emily M, Pajusalu, Sander, Pais, Lynn, Õunap, Katrin, Osei-Owusu, Ikeoluwa, Opperman, Henry, Okur, Volkan, Oja, Kaisa Teele, O'Leary, Melanie, O'Heir, Emily, Morel, Chantal F, Merkenschlager, Andreas, Marchant, Rhett G, Mangilog, Brian E, Madden, Jill A, MacArthur, Daniel, Lovgren, Alysia, Lerner-Ellis, Jordan P, Lin, Jasmine, Laing, Nigel, Hildebrandt, Friedhelm, Hentschel, Julia, Groopman, Emily, Goodrich, Julia, Gleeson, Joseph G, Ghaoui, Roula, Genetti, Casie A, Gburek-Augustat, Janina, Gazda, Hanna T, Ganesh, Vijay S, Ganapathi, Mythily, Gallacher, Lyndon, Fu, Jack M, Evangelista, Emily, England, Eleina, Donkervoort, Sandra, DiTroia, Stephanie, Cooper, Sandra T, Chung, Wendy K, Christodoulou, John, Chao, Katherine R, Cato, Liam D, Bujakowska, Kinga M, Bryen, Samantha J, Brand, Harrison, Bönnemann, Carsten G, Beggs, Alan H, Baxter, Samantha M, Bartolomaeus, Tobias, Agrawal, Pankaj B, Talkowski, Michael, Austin-Tse, Christina, Abou Jamra, Rami, Rehm, Heidi L, O'Donnell-Luria, Anne
المصدر: N Engl J Med ; ISSN:1533-4406 ; Volume:390 ; Issue:21
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4دورية أكاديمية
المصدر: Journal of Neuro-Ophthalmology ; volume 44, issue 1, page e3-e5 ; ISSN 1070-8022
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5دورية أكاديمية
المصدر: RETINAL Cases & Brief Reports ; volume 17, issue 5, page 533-537 ; ISSN 1935-1089
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6دورية أكاديمية
المؤلفون: Catomeris, Andrew J., Ballios, Brian G., Sangermano, Riccardo, Wagner, Naomi E., Comander, Jason I., Pierce, Eric A., Place, Emily M., Bujakowska, Kinga M., Huckfeldt, Rachel M.
المساهمون: National Eye Institute, Foundation Fighting Blindness, Curing Kids Foundation
المصدر: Ophthalmic Genetics ; volume 43, issue 3, page 332-339 ; ISSN 1381-6810 1744-5094
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7دورية أكاديمية
المؤلفون: Zampaglione, Erin, Maher, Matthew, Place, Emily M., Wagner, Naomi E., DiTroia, Stephanie, Chao, Katherine R., England, Eleina, CMG, Broad, Catomeris, Andrew, Nassiri, Sherwin, Himes, Seraphim, Pagliarulo, Joey, Ferguson, Charles, Galdikaité-Braziené, Eglé, Cole, Brian, Pierce, Eric A., Bujakowska, Kinga M.
المصدر: Genetics in Medicine ; volume 24, issue 2, page 332-343 ; ISSN 1098-3600
مصطلحات موضوعية: Genetics (clinical)
الإتاحة: https://doi.org/10.1016/j.gim.2021.09.015Test
https://api.elsevier.com/content/article/PII:S1098360021047432?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S1098360021047432?httpAccept=text/plainTest -
8دورية أكاديمية
المؤلفون: Ballios, Brian G., Place, Emily M., Martinez-Velazquez, Luis, Pierce, Eric A., Comander, Jason I., Huckfeldt, Rachel M.
وصف الملف: application/pdf
العلاقة: Genes 12 (12): 1853 (2021); http://hdl.handle.net/1807/108434Test
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9دورية أكاديميةBroadening INPP5E phenotypic spectrum: detection of rare variants in syndromic and non-syndromic IRD
المؤلفون: Sangermano, Riccardo, Deitch, Iris, Peter, Virginie G., Ba-Abbad, Rola, Place, Emily M., Zampaglione, Erin, Wagner, Naomi E., Fulton, Anne B., Coutinho-Santos, Luisa, Rosin, Boris, Dunet, Vincent, AlTalbishi, Ala’a, Banin, Eyal, Sousa, Ana Berta, Neves, Mariana, Larson, Anna, Quinodoz, Mathieu, Michaelides, Michel, Ben-Yosef, Tamar, Pierce, Eric A., Rivolta, Carlo, Webster, Andrew R., Arno, Gavin, Sharon, Dror, Huckfeldt, Rachel M., Bujakowska, Kinga M.
المصدر: npj Genomic Medicine ; volume 6, issue 1 ; ISSN 2056-7944
مصطلحات موضوعية: Genetics (clinical), Genetics, Molecular Biology
الإتاحة: https://doi.org/10.1038/s41525-021-00214-8Test
https://www.nature.com/articles/s41525-021-00214-8.pdfTest
https://www.nature.com/articles/s41525-021-00214-8Test -
10دورية أكاديمية
المؤلفون: Chorfi, Sarah, Place, Emily M., Mallery, Robert M., Huckfeldt, Rachel M., Avery, Robert, Golnik, Karl C., Froment, Caroline, Wang, An-Guor
المصدر: Journal of Neuro-Ophthalmology; Mar2024, Vol. 44 Issue 1, pe3-e5, 3p