المؤلفون: Sczakiel, H.L., Zhao, M., Wollert-Wulf, B., Danyel, M., Ehmke, N., Stoltenburg, C., Damseh, N., Al-Ashhab, M., Balci, T.B., Osmond, M., Andrade, A., Schallner, J., Porrmann, J., McDonald, K., Liao, M., Oppermann, H., Platzer, K., Dierksen, N., Mojarrad, M., Eslahi, A., Bakaeean, B., Calame, D.G., Lupski, J.R., Firoozfar, Z., Seyedhassani, S.M., Mohammadi, S.A., Anwaar, N., Rahman, F., Seelow, D., Janz, M., Horn, D., Maroofian, R., Boschann, F.

مصطلحات موضوعية: Cancer Research, Topic 3: Integrative Biomedicine

وصف الملف: application/pdf; other

العلاقة: http://edoc.mdc-berlin.de/23362/1/23362oa.pdfTest; http://edoc.mdc-berlin.de/23362/2/23362suppl.zipTest; Broadening the phenotypic and molecular spectrum of FINCA syndrome: Biallelic NHLRC2 variants in 15 novel individuals. Sczakiel, H.L. and Zhao, M. and Wollert-Wulf, B. and Danyel, M. and Ehmke, N. and Stoltenburg, C. and Damseh, N. and Al-Ashhab, M. and Balci, T.B. and Osmond, M. and Andrade, A. and Schallner, J. and Porrmann, J. and McDonald, K. and Liao, M. and Oppermann, H. and Platzer, K. and Dierksen, N. and Mojarrad, M. and Eslahi, A. and Bakaeean, B. and Calame, D.G. and Lupski, J.R. and Firoozfar, Z. and Seyedhassani, S.M. and Mohammadi, S.A. and Anwaar, N. and Rahman, F. and Seelow, D. and Janz, M. and Horn, D. and Maroofian, R. and Boschann, F. European Journal of Human Genetics 31 (8): 905-317. August 2023

الإتاحة: https://doi.org/10.1038/s41431-023-01382-0Test
http://edoc.mdc-berlin.de/23362Test/
https://edoc.mdc-berlin.de/23362Test/
http://edoc.mdc-berlin.de/23362/1/23362oa.pdfTest
http://edoc.mdc-berlin.de/23362/2/23362suppl.zipTest

المؤلفون: Osmond, M., Marr, D., Neeves, K.

المصدر: Research and Practice in Thrombosis and Haemostasis ; volume 7, page 100405 ; ISSN 2475-0379

مصطلحات موضوعية: Hematology

الإتاحة: https://doi.org/10.1016/j.rpth.2023.100405Test
https://api.elsevier.com/content/article/PII:S2475037923042140?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S2475037923042140?httpAccept=text/plainTest

المؤلفون: Iqbal, M, Maroofian, R, Cavdarli, B, Riccardi, F, Field, M, Banka, S, Bubshait, DK, Li, Y, Hertecant, J, Baig, SM, Dyment, D, Efthymiou, S, Abdullah, U, Makhdoom, EUH, Ali, Z, De Almeida, TS, Molinari, F, Mignon-Ravix, C, Chabrol, B, Antony, J, Ades, L, Pagnamenta, AT, Jackson, A, Douzgou, S, Beetz, C, Karageorgou, V, Vona, B, Rad, A, Baig, JM, Sultan, T, Alvi, JR, Maqbool, S, Rahman, F, Toosi, MB, Ashrafzadeh, F, Imannezhad, S, Karimiani, EG, Sarwar, Y, Khan, S, Jameel, M, Noegel, AA, Budde, B, Altmueller, J, Motameny, S, Hoehne, W, Houlden, H, Nuernberg, P, Wollnik, B, Villard, L, Alkuraya, FS, Osmond, M, Hussain, MS, Yigit, G

المصدر: Genetics in Medicine (2021)

وصف الملف: text

العلاقة: https://discovery.ucl.ac.uk/id/eprint/10133042/1/s41436-021-01260-4.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10133042Test/

الإتاحة: https://discovery.ucl.ac.uk/id/eprint/10133042/1/s41436-021-01260-4.pdfTest
https://discovery.ucl.ac.uk/id/eprint/10133042Test/

المؤلفون: Hengel, H, Hannan, SB, Dyack, S, MacKay, SB, Schatz, U, Fleger, M, Kurringer, A, Balousha, G, Ghanim, Z, Alkuraya, FS, Alzaidan, H, Alsaif, HS, Mitani, T, Bozdogan, S, Pehlivan, D, Lupski, JR, Gleeson, JJ, Dehghani, M, Mehrjardi, MYV, Sherr, EH, Parks, KC, Argilli, E, Begtrup, A, Galehdari, H, Balousha, O, Shariati, G, Mazaheri, N, Malamiri, RA, Pagnamenta, AT, Kingston, H, Banka, S, Jackson, A, Osmond, M, Care4Rare Canada Consortium, Genomics England Research Consortium, Rieß, A, Haack, TB, Nägele, T, Schuster, S, Hauser, S, Admard, J, Casadei, N, Velic, A, Macek, B, Ossowski, S, Houlden, H, Maroofian, R, Schöls, L

المصدر: American Journal of Human Genetics , 108 (6) pp. 1069-1082. (2021)

مصطلحات موضوعية: BCAS3, UAS-Gal4, fibroblasts, global developmental delay, microcephaly, neurodevelopmental disorder, proteomics, pyramidal tract involvement, thin corpus callosum, transcriptomics

وصف الملف: text

العلاقة: https://discovery.ucl.ac.uk/id/eprint/10129963/1/Houlden_Bi-allelic%20loss-of-function%20variants%20in%20BCAS3%20cause%20a%20syndromic%20neurodevelopmental%20disorder_VoR.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10129963Test/

الإتاحة: https://discovery.ucl.ac.uk/id/eprint/10129963/1/Houlden_Bi-allelic%20loss-of-function%20variants%20in%20BCAS3%20cause%20a%20syndromic%20neurodevelopmental%20disorder_VoR.pdfTest
https://discovery.ucl.ac.uk/id/eprint/10129963Test/

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

المؤلفون: Iqbal, M., Maroofian, R., Çavdarlı, B., Riccardi, F., Field, M., Banka, S., Bubshait, D.K., Li, Y., Hertecant, J., Baig, S.M., Dyment, D., Efthymiou, S., Abdullah, U., Makhdoom, E.U.H., Ali, Z., Scherf de Almeida, T, Molinari, F., Mignon-Ravix, C., Chabrol, B., Antony, J., Ades, L., Pagnamenta, A.T., Jackson, A., Douzgou, S., Beetz, C., Karageorgou, V., Vona, B., Rad, A., Baig, J.M., Sultan, T., Alvi, J.R., Maqbool, S., Rahman, F., Toosi, M.B., Ashrafzadeh, F., Imannezhad, S., Karimiani, E.G., Sarwar, Y., Khan, S., Jameel, M., Noegel, A.A., Budde, B., Altmüller, J., Motameny, S., Höhne, W., Houlden, H., Nürnberg, P., Wollnik, B., Villard, L., Alkuraya, F.S., Osmond, M., Hussain, M.S., Yigit, G.

مصطلحات موضوعية: Technology Platforms

وصف الملف: application/pdf

العلاقة: http://edoc.mdc-berlin.de/20487/1/20487oa.pdfTest; http://edoc.mdc-berlin.de/20487/7/20487suppl.pdfTest; Biallelic variants in PCDHGC4 cause a novel neurodevelopmental syndrome with progressive microcephaly, seizures, and joint anomalies. Iqbal, M. and Maroofian, R. and Çavdarlı, B. and Riccardi, F. and Field, M. and Banka, S. and Bubshait, D.K. and Li, Y. and Hertecant, J. and Baig, S.M. and Dyment, D. and Efthymiou, S. and Abdullah, U. and Makhdoom, E.U.H. and Ali, Z. and Scherf de Almeida, T and Molinari, F. and Mignon-Ravix, C. and Chabrol, B. and Antony, J. and Ades, L. and Pagnamenta, A.T. and Jackson, A. and Douzgou, S. and Beetz, C. and Karageorgou, V. and Vona, B. and Rad, A. and Baig, J.M. and Sultan, T. and Alvi, J.R. and Maqbool, S. and Rahman, F. and Toosi, M.B. and Ashrafzadeh, F. and Imannezhad, S. and Karimiani, E.G. and Sarwar, Y. and Khan, S. and Jameel, M. and Noegel, A.A. and Budde, B. and Altmüller, J. and Motameny, S. and Höhne, W. and Houlden, H. and Nürnberg, P. and Wollnik, B. and Villard, L. and Alkuraya, F.S. and Osmond, M. and Hussain, M.S. and Yigit, G. Genetics in Medicine 23 (11): 2138-2149. November 2021

الإتاحة: https://doi.org/10.1038/s41436-021-01260-4Test
http://edoc.mdc-berlin.de/20487Test/
https://edoc.mdc-berlin.de/20487Test/
http://edoc.mdc-berlin.de/20487/1/20487oa.pdfTest
http://edoc.mdc-berlin.de/20487/7/20487suppl.pdfTest

المؤلفون: Salpietro V., Dixon C. L., Guo H., Bello O. D., Vandrovcova J., Efthymiou S., Maroofian R., Heimer G., Burglen L., Valence S., Torti E., Hacke M., Rankin J., Tariq H., Colin E., Procaccio V., Striano P., Mankad K., Lieb A., Chen S., Pisani L., Bettencourt C., Mannikko R., Manole A., Brusco A., Grosso E., Ferrero G. B., Armstrong-Moron J., Gueden S., Bar-Yosef O., Tzadok M., Monaghan K. G., Santiago-Sim T., Person R. E., Cho M. T., Willaert R., Yoo Y., Chae J. -H., Quan Y., Wu H., Wang T., Bernier R. A., Xia K., Blesson A., Jain M., Motazacker M. M., Jaeger B., Schneider A. L., Boysen K., Muir A. M., Myers C. T., Gavrilova R. H., Gunderson L., Schultz-Rogers L., Klee E. W., Dyment D., Osmond M., Parellada M., Llorente C., Gonzalez-Penas J., Carracedo A., Van Haeringen A., Ruivenkamp C., Nava C., Heron D., Nardello R., Iacomino M., Minetti C., Skabar A., Fabretto A., Hanna M. G., Bugiardini E., Hostettler I., O'Callaghan B., Khan A., Cortese A., O'Connor E., Yau W. Y., Bourinaris T., Kaiyrzhanov R., Chelban V., Madej M., Diana M. C., Vari M. S., Pedemonte M., Bruno C., Balagura G., Scala M., Fiorillo C., Nobili L., Malintan N. T., Zanetti M. N., Krishnakumar S. S., Lignani G., Jepson J. E. C., Broda P., Baldassari S., Rossi P., Fruscione F., Madia F., Traverso M., De-Marco P., Perez-Duenas B., Munell F., Kriouile Y., El-Khorassani M., Karashova B., Avdjieva D., Kathom H., Tincheva R., Van-Maldergem L., Nachbauer W., Boesch S., Gagliano A., Amadori E., Goraya J. S., Sultan T., Kirmani S., Ibrahim S., Jan F., Mine J., Banu S., Veggiotti P., Zuccotti G. V., Ferrari M. D., Van Den Maagdenberg A. M. J., Verrotti A., Marseglia G. L., Savasta S., Soler M. A., Scuderi C., Borgione E., Chimenz R., Gitto E., Dipasquale V., Sallemi A., Fusco M., Cuppari C., Cutrupi M. C., Ruggieri M., Cama A., Capra V., Mencacci N. E., Boles R., Gupta N., Kabra M., Papacostas S., Zamba-Papanicolaou E., Dardiotis E., Maqbool S., Rana N., Atawneh O., Lim S. Y., Shaikh F., Koutsis G., Breza M., Coviello D. A., Dauvilliers Y. A., AlKhawaja I., AlKhawaja M., Al-Mutairi F., Stojkovic T., Ferrucci V., Zollo M., Alkuraya F. S., Kinali M., Sherifa H., Benrhouma H., Turki I. B. Y., Tazir M., Obeid M., Bakhtadze S., Saadi N. W., Zaki M. S., Triki C. C., Benfenati F., Gustincich S., Kara M., Belcastro V., Specchio N., Capovilla G., Karimiani E. G., Salih A. M., Okubadejo N. U., Ojo O. O., Oshinaike O. O., Oguntunde O., Wahab K., Bello A. H., Abubakar S., Obiabo Y., Nwazor E., Ekenze O., Williams U., Iyagba A., Taiwo L., Komolafe M., Senkevich K., Shashkin C., Zharkynbekova N., Koneyev K., Manizha G., Isrofilov M., Guliyeva U., Salayev K., Khachatryan S., Rossi S., Silvestri G., Haridy N., Ramenghi L. A., Xiromerisiou G., David E., Aguennouz M., Fidani L., Spanaki C., Tucci A., Raspall-Chaure M., Chez M., Tsai A., Fassi E., Shinawi M., Constantino J. N., De Zorzi R., Fortuna S., Kok F., Keren B., Bonneau D., Choi M., Benzeev B., Zara F., Mefford H. C., Scheffer I. E., Clayton-Smith J., Macaya A., Rothman J. E., Eichler E. E., Kullmann D. M., Houlden H.

المساهمون: Salpietro, V., Dixon, C. L., Guo, H., Bello, O. D., Vandrovcova, J., Efthymiou, S., Maroofian, R., Heimer, G., Burglen, L., Valence, S., Torti, E., Hacke, M., Rankin, J., Tariq, H., Colin, E., Procaccio, V., Striano, P., Mankad, K., Lieb, A., Chen, S., Pisani, L., Bettencourt, C., Mannikko, R., Manole, A., Brusco, A., Grosso, E., Ferrero, G. B., Armstrong-Moron, J., Gueden, S., Bar-Yosef, O., Tzadok, M., Monaghan, K. G., Santiago-Sim, T., Person, R. E., Cho, M. T., Willaert, R., Yoo, Y., Chae, J. -H., Quan, Y., Wu, H., Wang, T., Bernier, R. A., Xia, K., Blesson, A., Jain, M., Motazacker, M. M., Jaeger, B., Schneider, A. L., Boysen, K., Muir, A. M., Myers, C. T., Gavrilova, R. H., Gunderson, L., Schultz-Rogers, L., Klee, E. W., Dyment, D., Osmond, M., Parellada, M., Llorente, C., Gonzalez-Penas, J., Carracedo, A., Van Haeringen, A., Ruivenkamp, C., Nava, C., Heron, D., Nardello, R., Iacomino, M., Minetti, C., Skabar, A., Fabretto, A., Hanna, M. G., Bugiardini, E., Hostettler, I., O'Callaghan, B., Khan, A., Cortese, A., O'Connor, E., Yau, W. Y., Bourinaris, T., Kaiyrzhanov, R., Chelban, V., Madej, M., Diana, M. C., Vari, M. S., Pedemonte, M., Bruno, C., Balagura, G., Scala, M., Fiorillo, C., Nobili, L., Malintan, N. T., Zanetti, M. N., Krishnakumar, S. S., Lignani, G., Jepson, J. E. C., Broda, P., Baldassari, S., Rossi, P., Fruscione, F., Madia, F.

العلاقة: info:eu-repo/semantics/altIdentifier/wos/WOS:000475295700001; volume:10; issue:1; firstpage:3094; journal:NATURE COMMUNICATIONS; https://hdl.handle.net/11390/1243137Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85068965744

الإتاحة: https://doi.org/10.1038/s41467-019-10910-wTest
https://hdl.handle.net/11390/1243137Test

المؤلفون: Chelban V., Wilson M. P., Warman Chardon J., Vandrovcova J., Zanetti M. N., Zamba-Papanicolaou E., Efthymiou S., Pope S., Conte M. R., Abis G., Liu Y. -T., Tribollet E., Haridy N. A., Botia J. A., Ryten M., Nicolaou P., Minaidou A., Christodoulou K., Kernohan K. D., Eaton A., Osmond M., Ito Y., Bourque P., Jepson J. E. C., Bello O., Bremner F., Cordivari C., Reilly M. M., Foiani M., Heslegrave A., Zetterberg H., Heales S. J. R., Wood N. W., Rothman J. E., Boycott K. M., Mills P. B., Clayton P. T., Houlden H., Kriouile Y., Khorassani M. E., Aguennouz M., Groppa S., Marinova Karashova B., Van Maldergem L., Nachbauer W., Boesch S., Arning L., Timmann D., Cormand B., Perez-Duenas B., Di Rosa G., Goraya J. S., Sultan T., Mine J., Avdjieva D., Kathom H., Tincheva R., Banu S., Pineda-Marfa M., Veggiotti P., Ferrari M. D., van den Maagdenberg A. M. J. M., Verrotti A., Marseglia G., Savasta S., Garcia-Silva M., Ruiz A. M., Garavaglia B., Borgione E., Portaro S., Sanchez B. M., Boles R., Papacostas S., Vikelis M., Rothman J., Giunti P., Salpietro V., Oconnor E., Kullmann D., Kaiyrzhanov R., Sullivan R., Khan A. M., Yau W. Y., Hostettler I., Papanicolaou E. Z., Dardiotis E., Maqbool S., Ibrahim S., Kirmani S., Rana N. N., Atawneh O., Lim S. -Y., Shaikh F., Koutsis G., Breza M., Mangano S., Scuderi C., Morello G., Stojkovic T., Torti E., Zollo M., Heimer G., Dauvilliers Y. A., Striano P., Al-Khawaja I., Al-Mutairi F., Alkuraya F. S., Sherifa H., Rizig M., Okubadejo N. U., Ojo O. O., Oshinaike O. O., Wahab K., Bello A. H., Abubakar S., Obiabo Y., Nwazor E., Ekenze O., Williams U., Iyagba A., Taiwo L., Komolafe M., Oguntunde O., Pchelina S., Senkevich K., Haridy N., Shashkin C., Zharkynbekova N., Koneyev K., Manizha G., Isrofilov M., Guliyeva U., Salayev K., Khachatryan S., Rossi S., Silvestri G., Bourinaris T., Xiromerisiou G., Fidani L., Spanaki C., Tucci A.

المساهمون: Chelban V., Wilson M.P., Warman Chardon J., Vandrovcova J., Zanetti M.N., Zamba-Papanicolaou E., Efthymiou S., Pope S., Conte M.R., Abis G., Liu Y.-T., Tribollet E., Haridy N.A., Botia J.A., Ryten M., Nicolaou P., Minaidou A., Christodoulou K., Kernohan K.D., Eaton A., Osmond M., Ito Y., Bourque P., Jepson J.E.C., Bello O., Bremner F., Cordivari C., Reilly M.M., Foiani M., Heslegrave A., Zetterberg H., Heales S.J.R., Wood N.W., Rothman J.E., Boycott K.M., Mills P.B., Clayton P.T., Houlden H., Kriouile Y., Khorassani M.E., Aguennouz M., Groppa S., Marinova Karashova B., Van Maldergem L., Nachbauer W., Boesch S., Arning L., Timmann D., Cormand B., Perez-Duenas B., Di Rosa G., Goraya J.S., Sultan T., Mine J., Avdjieva D., Kathom H., Tincheva R., Banu S., Pineda-Marfa M., Veggiotti P., Ferrari M.D., van den Maagdenberg A.M.J.M., Verrotti A., Marseglia G., Savasta S., Garcia-Silva M., Ruiz A.M., Garavaglia B., Borgione E., Portaro S., Sanchez B.M., Boles R., Papacostas S., Vikelis M., Rothman J., Giunti P., Salpietro V., Oconnor E., Kullmann D., Kaiyrzhanov R., Sullivan R., Khan A.M., Yau W.Y., Hostettler I., Papanicolaou E.Z., Dardiotis E., Maqbool S., Ibrahim S., Kirmani S., Rana N.N., Atawneh O., Lim S.-Y., Shaikh F., Koutsis G., Breza M., Mangano S., Scuderi C.

مصطلحات موضوعية: Adolescent, Adult, Aged, 80 and over, Child, Preschool, Dietary Supplement, Female, Gene Regulatory Network, Human, Male, Mutation, Polyneuropathie, Pyridoxal Kinase, Pyridoxal Phosphate, Treatment Outcome, Vitamin B Complex

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/31187503; info:eu-repo/semantics/altIdentifier/wos/WOS:000473919500001; volume:86; issue:2; firstpage:225; lastpage:240; numberofpages:16; journal:ANNALS OF NEUROLOGY; http://hdl.handle.net/10447/407140Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85068354982

الإتاحة: https://doi.org/10.1002/ana.25524Test
http://hdl.handle.net/10447/407140Test

المؤلفون: Lessel, D., Zeitler, D.M., Reijnders, M.R.F., Kazantsev, A., Nia, F.H., Bartholomaus, A., Martens, V., Bruckmann, A., Graus, V., McConkie-Rosell, A., McDonald, M., Lozic, B., Tan, E.S., Gerkes, E., Johannsen, J., Denecke, J., Telegrafi, A., Zonneveld-Huijssoon, E., Lemmink, H.H., Cham, B.W.M., Kovacevic, T., Ramsdell, L., Foss, K., Le Duc, D., Mitter, D., Syrbe, S., Merkenschlager, A., Sinnema, M., Panis, B., Lazier, J., Osmond, M., Hartley, T., Mortreux, J., Busa, T., Missirian, C., Prasun, P., Luttgen, S., Mannucci, I., Lessel, I., Schob, C., Kindler, S., Pappas, J., Rabin, R., Willemsen, M., Gardeitchik, T., Lohner, K., Rump, P., Dias, K.R., Evans, C.A., Andrews, P.I., Kreienkamp, Hans-Jurgen

المصدر: Lessel , D , Zeitler , D M , Reijnders , M R F , Kazantsev , A , Nia , F H , Bartholomaus , A , Martens , V , Bruckmann , A , Graus , V , McConkie-Rosell , A , McDonald , M , Lozic , B , Tan , E S , Gerkes , E , Johannsen , J , Denecke , J , Telegrafi , A , Zonneveld-Huijssoon , E , Lemmink , H H , Cham , B W M , Kovacevic , T , Ramsdell , L , Foss , K ....

مصطلحات موضوعية: argonaute proteins, cleavage, crystal-structure, gene, intellectual disability, micrornas, molecular-dynamics, phosphorylation, recognition, structural basis

الإتاحة: https://doi.org/10.1038/s41467-020-19572-5Test
https://cris.maastrichtuniversity.nl/en/publications/190a7367-7681-48c6-8a8c-2241661bfe79Test

المؤلفون: Hiatt, S.M., Trajkova, S., Sebastiano, M.R., Partridge, E.C., Abidi, F.E., Anderson, A., Ansar, M., Antonarakis, S.E., Azadi, A., Bachmann-Gagescu, R., Bartuli, A., Benech, C., Berkowitz, J.L., Betti, M.J., Brusco, A., Cannon, A., Caron, G., Chen, Y., Cochran, M.E., Coleman, T.F., Crenshaw, M.M., Cuisset, L., Curry, C.J., Darvish, H., Demirdas, S., Descartes, M., Douglas, J., Dyment, D.A., Elloumi, H.Z., Ermondi, G., Faoucher, M., Farrow, E.G., Felker, S.A., Fisher, H., Hurst, ACE, Joset, P., Kelly, M.A., Kmoch, S., Leadem, B.R., Lyons, M.J., Macchiaiolo, M., Magner, M., Mandrile, G., Mattioli, F., McEown, M., Meadows, S.K., Medne, L., Meeks, NJL, Montgomery, S., Napier, M.P., Natowicz, M., Newberry, K.M., Niceta, M., Noskova, L., Nowak, C.B., Noyes, A.G., Osmond, M., Prijoles, E.J., Pugh, J., Pullano, V., Quélin, C., Rahimi-Aliabadi, S., Rauch, A., Redon, S., Reymond, A., Schwager, C.R., Sellars, E.A., Scheuerle, A.E., Shukarova-Angelovska, E., Skraban, C., Stolerman, E., Sullivan, B.R., Tartaglia, M., Thiffault, I., Uguen, K., Umaña, L.A., van Bever, Y., van der Crabben, S.N., van Slegtenhorst, M.A., Waisfisz, Q., Washington, C., Rodan, L.H., Myers, R.M., Cooper, G.M.

المصدر: American journal of human genetics, vol. 110, no. 2, pp. 215-227

مصطلحات موضوعية: Humans, Male, Female, Neurodevelopmental Disorders/genetics, Intellectual Disability/genetics, Phenotype, Gene Expression Regulation, Face, Nervous System Malformations, Nuclear Proteins/genetics, Histone Demethylases/genetics, X-linked intellectual disability, ZMYM3, chromatin modifiers, neurodevelopmental disorder, transcriptional coregulators

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/36586412; info:eu-repo/semantics/altIdentifier/eissn/1537-6605; https://serval.unil.ch/notice/serval:BIB_A025F20DEEB6Test; urn:issn:0002-9297

الإتاحة: https://doi.org/10.1016/j.ajhg.2022.12.007Test
https://serval.unil.ch/notice/serval:BIB_A025F20DEEB6Test