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1Academic Journal
المؤلفون: Scala, M., Wortmann, S.B., Kaya, N., Stellingwerff, M.D., Pistorio, A., Glamuzina, E., van Karnebeek, C.D., Skrypnyk, C., Iwanicka-Pronicka, K., Piekutowska-Abramczuk, D., Ciara, E., Tort, F., Sheidley, B., Poduri, A., Jayakar, P., Jayakar, A., Upadia, J., Walano, N., Haack, T.B., Prokisch, H., Aldhalaan, H., Karimiani, E.G., Yildiz, Y., Ceylan, A.C., Santiago-Sim, T., Dameron, A., Yang, H., Toosi, M.B., Ashrafzadeh, F., Akhondian, J., Imannezhad, S., Mirzadeh, H.S., Maqbool, S., Farid, A., Al-Muhaizea, M.A., Alshwameen, M.O., Aldowsari, L., Alsagob, M., Alyousef, A., AlMass, R., AlHargan, A., Alwadei, A.H., AlRasheed, M.M., Colak, D., Alqudairy, H., Khan, S., Lines, M.A., Cazorla, M.A.G., Ribes, A., Morava, E., Bierau, J., van der Knaap, Marjo S., Maroofian, Reza, Houlden, Henry H.
المصدر: Scala , M , Wortmann , S B , Kaya , N , Stellingwerff , M D , Pistorio , A , Glamuzina , E , van Karnebeek , C D , Skrypnyk , C , Iwanicka-Pronicka , K , Piekutowska-Abramczuk , D , Ciara , E , Tort , F , Sheidley , B , Poduri , A , Jayakar , P , Jayakar , A , Upadia , J , Walano , N , Haack , T B , Prokisch , H , Aldhalaan , H , Karimiani , E G , Yildiz , Y , Ceylan ....
مصطلحات موضوعية: congenital microcephaly, developmental and epileptic encephalopathy 35, heart disease, ITPA, ITPase, white matter abnormalities, NUCLEOTIDE POOLS, MUTATIONS, RETARDATION, ASSOCIATION, GROWTH
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2Academic Journal
المؤلفون: Scala, M, Wortmann, SB, Kaya, N, Stellingwerff, MD, Pistorio, A, Glamuzina, E, van Karnebeek, CD, Skrypnyk, C, Iwanicka-Pronicka, K, Piekutowska-Abramczuk, D, Ciara, E, Tort, F, Sheidley, B, Poduri, A, Jayakar, P, Jayakar, A, Upadia, J, Walano, N, Haack, TB, Prokisch, H, Aldhalaan, H, Karimiani, EG, Yildiz, Y, Ceylan, AC, Santiago-Sim, T, Dameron, A, Yang, H, Toosi, MB, Ashrafzadeh, F, Akhondian, J, Imannezhad, S, Mirzadeh, HS, Maqbool, S, Farid, A, Al-Muhaizea, MA, Alshwameen, MO, Aldowsari, L, Alsagob, M, Alyousef, A, AlMass, R, AlHargan, A, Alwadei, AH, AlRasheed, MM, Colak, D, Alqudairy, H, Khan, S, Lines, MA, Cazorla, MAG, Ribes, A, Morava, E, Bibi, F, Haider, S, Ferla, MP, Taylor, JC, Alsaif, HS, Firdous, A, Hashem, M, Shashkin, C, Koneev, K, Kaiyrzhanov, R, Efthymiou, S, Genomics, QS, Schmitt-Mechelke, T, Ziegler, A, Issa, MY, Elbendary, HM, Striano, P, Alkuraya, FS, Zaki, MS, Gleeson, JG, Barakat, TS, Bierau, J, van der Knaap, MS, Maroofian, R, Houlden, H
المصدر: Human Mutation (2022) (In press).
مصطلحات موضوعية: congenital microcephaly, developmental and epileptic encephalopathy 35, heart disease, ITPA, ITPase, white matter abnormalities
وصف الملف: text
Relation: https://discovery.ucl.ac.uk/id/eprint/10142352/1/Human%20Mutation%20-%202022%20-%20Scala%20-%20Clinico%E2%80%90radiological%20features%20%20molecular%20spectrum%20%20and%20identification%20of%20prognostic%20factors.pdf; https://discovery.ucl.ac.uk/id/eprint/10142352/
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3Academic Journal
المؤلفون: Kohlhase, J, Liebers, M, Backe, J, Baumann-Müller, A, Bembea, M, Destrée, A, Gattas, M, Grüßner, S, Müller, T, Mortier, G, Skrypnyk, C, Yano, S, Wirbelauer, J, Michaelis, R C
مصطلحات موضوعية: Online mutation reports
وصف الملف: text/html
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4Academic Journal
المؤلفون: Karnebeek, C.D. van, Ramos, R.J., Wen, X.Y., Tarailo-Graovac, M., Gleeson, Joseph G., Skrypnyk, C., Kluijtmans, L.A.J., Willemsen, M.A.A.P., Rodenburg, R.J., Huigen, M., Zaki, Maha S., Wevers, R.A.
المصدر: American Journal of Human Genetics, 105, 3, pp. 534-548
مصطلحات موضوعية: All institutes and research themes of the Radboud University Medical Center, Radboudumc 0: Other Research RIMLS: Radboud Institute for Molecular Life Sciences, Radboudumc 3: Disorders of movement DCMN: Donders Center for Medical Neuroscience, Radboudumc 6: Metabolic Disorders RIMLS: Radboud Institute for Molecular Life Sciences
Relation: https://repository.ubn.ru.nl//bitstream/handle/2066/207864/207864.pdf; http://hdl.handle.net/2066/207864; https://doi.org/10.1016/j.ajhg.2019.07.015
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5Academic Journal
المؤلفون: Tarailo-Graovac, M., Shyr, C., Ross, C.J., Horvath, G.A., Salvarinova, R., Ye, X.C., Zhang, L.H., Bhavsar, A.P., Lee, J.J., Drögemöller, B.I., Abdelsayed, M., Alfadhel, M., Armstrong, L., Baumgartner, M.R., Burda, P., Connolly, M.B., Cameron, J., Demos, M., Dewan, T., Dionne, J., Evans, A.M., Friedman, J.M., Garber, I., Lewis, S., Ling, J., Mandal, R., Mattman, A., McKinnon, M., Michoulas, A., Metzger, D., Ogunbayo, O.A., Rakic, B., Rozmus, J., Ruben, P., Sayson, B., Santra, S., Schultz, K.R., Selby, K., Shekel, P., Sirrs, S., Skrypnyk, C., Superti-Furga, A., Turvey, S.E., Allen, M.I. van, Wishart, D., Wu, J., Zafeiriou, D., Kluijtmans, L.A.J., Wevers, R.A., Eydoux, P., Lehman, A.M., Vallance, H., Stockler-Ipsiroglu, S., Sinclair, G., Wasserman, W.W., Karnebeek, C.D. van
المصدر: The New England Journal of Medicine, 374, 23, pp. 2246-2255
مصطلحات موضوعية: Radboudumc 0: Other Research RIMLS: Radboud Institute for Molecular Life Sciences, Radboudumc 3: Disorders of movement DCMN: Donders Center for Medical Neuroscience
Relation: http://hdl.handle.net/2066/167786
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6Academic Journal
المؤلفون: Kohlhase, Juergen, Liebers, M., Backe, J., Baumann-Mueller, A., Bembea, M., Destree, A., Gattas, M., Grussner, S., Mueller, T., Mortier, G., Skrypnyk, C., Yano, S., Wirbelauer, J., Michaelis, R. C.
Relation: https://resolver.sub.uni-goettingen.de/purl?gro-2/45008; 000186682000024
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7Academic Journal
المؤلفون: Pascanu, I.1 iopascanu@gmail.com, Ruff, R.1, Banescu, C.2, Skrypnyk, C.3
المصدر: Acta Endocrinologica (1841-0987). Oct-Dec2010, Vol. 6 Issue 4, p521-532. 11p.
مصطلحات موضوعية: *PRADER-Willi syndrome, *HUMAN chromosome 15 abnormalities, *GENES, *HYPOGONADISM, *LEUCOCYTES, *TRIPLE X syndrome
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