نتائج البحث

المساهمون: Bryant L., Li D., Cox S.G., Marchione D., Joiner E.F., Wilson K., Janssen K., Lee P., March M.E., Nair D., Sherr E., Fregeau B., Wierenga K.J., Wadley A., Mancini G.M.S., Powell-Hamilton N., van de Kamp J., Grebe T., Dean J., Ross A., Crawford H.P., Powis Z., Cho M.T., Willing M.C., Manwaring L., Schot R., Nava C., Afenjar A., Lessel D., Wagner M., Klopstock T., Winkelmann J., Catarino C.B., Retterer K., Schuette J.L., Innis J.W., Pizzino A., Luttgen S., Denecke J., Strom T.M., Monaghan K.G., Yuan Z.-F., Dubbs H., Bend R., Lee J.A., Lyons M.J., Hoefele J., Gunthner R., Reutter H., Keren B., Radtke K., Sherbini O., Mrokse C., Helbig K.L., Odent S., Cogne B., Mercier S., Bezieau S., Besnard T., Kury S., Redon R., Reinson K., Wojcik M.H., Ounap K., Ilves P., Innes A.M., Kernohan K.D., Costain G., Meyn M.S., Chitayat D., Zackai E., Lehman A., Kitson H., Martin M.G., Martinez-Agosto J.A., Nelson S.F., Palmer C.G.S., Papp J.C., Parker N.H., Sinsheimer J.S., Vilain E., Wan J., Yoon A.J., Zheng A., Brimble E., Ferrero G.B., Radio F.C., Carli D., Barresi S., Brusco A., Tartaglia M., Thomas J.M., Umana L., Weiss M.M., Gotway G., Stuurman K.E., Thompson M.L., McWalter K., Stumpel C.T.R.M., Stevens S.J.C.

مصطلحات موضوعية: histone, neurodevelopmental disorder, progressive neurologic dysfunction, congenital anomalies, cancer mutation

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/33268356; info:eu-repo/semantics/altIdentifier/wos/WOS:000596477400029; volume:6; issue:49; firstpage:1; lastpage:11; numberofpages:11; journal:SCIENCE ADVANCES; http://hdl.handle.net/2318/1764207Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85097125370; https://advances.sciencemag.org/content/6/49/eabc9207Test

الإتاحة: https://doi.org/10.1126/sciadv.abc9207Test
http://hdl.handle.net/2318/1764207Test
https://advances.sciencemag.org/content/6/49/eabc9207Test

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6

دورية أكاديمية

Feminized behavior and brain gene expression in a novel mouse model of Klinefelter Syndrome.

المؤلفون: Ngun, TC, Ghahramani, NM, Creek, MM, Williams-Burris, SM, Barseghyan, H, Itoh, Y, Sánchez, FJ, McClusky, R, Sinsheimer, JS, Arnold, AP, Vilain, E

المصدر: Archives of sexual behavior. 43(6)

مصطلحات موضوعية: Clinical Psychology, Other Studies in Human Society, Psychology, Public Health and Health Services

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/2xf0h5wcTest

View record in eScholarship

7

دورية أكاديمية

Mutation-specific pathophysiological mechanisms define different neurodevelopmental disorders associated with SATB1 dysfunction

المؤلفون: Den Hoed, J., De Boer, E., Voisin, N., Dingemans, A., Guex, N., Wiel, L., Nellaker, C., Amudhavalli, S., Banka, S., Bena, F., Ben-Zeev, B., Bonagura, V., Bruel, A., Brunet, T., Brunner, H., Chew, H., Chrast, J., Cimbalistienė, L., Coon, H., Délot, E., Démurger, F., Denommé-Pichon, A., Depienne, C., Donnai, D., Dyment, D., Elpeleg, O., Faivre, L., Gilissen, C., Granger, L., Haber, B., Hachiya, Y., Hamzavi Abedi, Y., Hanebeck, J., Hehir-Kwa, J., Horist, B., Itai, T., Jackson, A., Jewell, R., Jones, K., Joss, S., Kashii, H., Kato, M., Kattentidt-Mouravieva, A., Kok, F., Kotzaeridou, U., Krishnamurthy, V., Kučinskas, V., Kuechler, A., Lavillaureix, A., Liu, P., Manwaring, L., Matsumoto, N., Mazel, B., McWalter, K., Meiner, V., Mikati, M., Miyatake, S., Mizuguchi, T., Moey, L., Mohammed, S., Mor-Shaked, H., Mountford, H., Newbury-Ecob, R., Odent, S., Orec, L., Osmond, M., Palculict, T., Parker, M., Petersen, A., Pfundt, R., Preikšaitienė, E., Radtke, K., Ranza, E., Rosenfeld, J., Santiago-Sim, T., Schwager, C., Sinnema, M., Snijders Blok, L., Spillmann, R., Stegmann, A., Thiffault, I., Tran, L., Vaknin-Dembinsky, A., Vedovato-dos-Santos, J., Vergano, S., Vilain, E., Vitobello, A., Wagner, M., Waheeb, A., Willing, M., Zuccarelli, B., Kini, U., Newbury, D., Kleefstra, T., Reymond, A., Fisher, S., Vissers, L.

المساهمون: The DDD study

المصدر: The American Journal of Human Genetics

وصف الملف: application/pdf

العلاقة: http://hdl.handle.net/21.11116/0000-0007-623A-ATest; http://hdl.handle.net/21.11116/0000-0007-F4E7-1Test

الإتاحة: https://doi.org/10.1016/j.ajhg.2021.01.007Test
http://hdl.handle.net/21.11116/0000-0007-623A-ATest
http://hdl.handle.net/21.11116/0000-0007-F4E7-1Test

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8

دورية أكاديمية

The regulations about eligibility for women with hyperandrogenism to compete in women's category are well founded. A rebuttal to the conclusions by Healy et al

المؤلفون: Ritzen, M, Ljungqvist, A, Budgett, R, Garnier, PY, Bermon, S, Linden-Hirschberg, A, Vilain, E, Martinez-Patino, MJ

المصدر: Clinical endocrinology. 82(2):307-308

مصطلحات موضوعية: Medicin och hälsovetenskap

الوصول الحر: http://kipublications.ki.se/Default.aspx?queryparsed=id:130602946Test

View record in SwePub

9

دورية أكاديمية

Loss of Sequences 3′ to the Testis-Determining Gene, SRY, Including the Y Pseudoautosomal Boundary Associated with Partial Testicular Determination

المؤلفون: McElreavey, K., Vilain, E., Barbaux, S., Fuqua, J. S., Fechner, P. Y., Souleyreau, N., Doco-Fenzy, M., Gabriel, R., Quereux, C., Fellous, M., Berkovitz, G. D.

المصدر: Proceedings of the National Academy of Sciences of the United States of America, 1996 Aug 01. 93(16), 8590-8594.

الوصول الحر: https://www.jstor.org/stable/39908Test

النص الكامل

10

دورية أكاديمية

Identification of novel candidate genes for 46, XY disorders of sex development (DSD) using a C57BL/6J-Y-POS mouse model

المؤلفون: Barseghyan, H, Symon, A, Zadikyan, M, Almalvez, M, Segura, EE, Eskin, A, Bramble, MS, Arboleda, VA, Baxter, R, Nelson, SF, Delot, EC, Harley, V, Vilain, E

العلاقة: pii: 10.1186/s13293-018-0167-9; Barseghyan, H., Symon, A., Zadikyan, M., Almalvez, M., Segura, E. E., Eskin, A., Bramble, M. S., Arboleda, V. A., Baxter, R., Nelson, S. F., Delot, E. C., Harley, V. & Vilain, E. (2018). Identification of novel candidate genes for 46, XY disorders of sex development (DSD) using a C57BL/6J-Y-POS mouse model. BIOLOGY OF SEX DIFFERENCES, 9 (1), https://doi.org/10.1186/s13293-018-0167-9Test.; http://hdl.handle.net/11343/253179Test

الإتاحة: https://doi.org/10.1186/s13293-018-0167-9Test
http://hdl.handle.net/11343/253179Test

View record in BASE

النص الكامل

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