المؤلفون: Magrinelli, F, Cali, E, Braga, VL, Yis, U, Tomoum, H, Shamseldin, H, Raiman, J, Kernstock, C, Rezende Filho, FM, Povoas Barsottini, OG, Taylor, RW, Ostergaard, E, Tamim, A, Schaeferhoff, K, Ferraz Sallum, JM, Zaki, MS, Kok, F, Bhatia, KP, Wissinger, B, Sergeant, K, Haack, TB, Horvath, R, Hiz, S, Alkuraya, FS, Houlden, H, Pedroso, JL, Maroofian, R

المصدر: Movement Disorders Clinical Practice (2022) (In press).

مصطلحات موضوعية: NDUFA12, dystonia, optic atrophy, Leigh syndrome, phenotypic heterogeneity

وصف الملف: text

العلاقة: https://discovery.ucl.ac.uk/id/eprint/10141102/1/Movement%20Disord%20Clin%20Pract%20-%202021%20-%20Magrinelli%20-%20Biallelic%20Loss%E2%80%90of%E2%80%90Function%20NDUFA12%20Variants%20Cause%20a%20Wide%20Phenotypic.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10141102Test/

الإتاحة: https://discovery.ucl.ac.uk/id/eprint/10141102/1/Movement%20Disord%20Clin%20Pract%20-%202021%20-%20Magrinelli%20-%20Biallelic%20Loss%E2%80%90of%E2%80%90Function%20NDUFA12%20Variants%20Cause%20a%20Wide%20Phenotypic.pdfTest
https://discovery.ucl.ac.uk/id/eprint/10141102Test/

المؤلفون: Richard, EM, Bakhtiari, S, Marsh, APL, Kaiyrzhanov, R, Wagner, M, Shetty, S, Pagnozzi, A, Nordlie, SM, Guida, BS, Cornejo, P, Magee, H, Liu, J, Norton, BY, Webster, R, Worgan, L, Hakonarson, H, Li, J, Guo, Y, Jain, M, Blesson, A, Rodan, LH, Abbott, M-A, Comi, A, Cohen, JS, Alhaddad, B, Meitinger, T, Lenz, D, Ziegler, A, Kotzaeridou, U, Brunet, T, Chassevent, A, Smith-Hicks, C, Ekstein, J, Weiden, T, Hahn, A, Zharkinbekova, N, Turnpenny, P, Tucci, A, Yelton, M, Horvath, R, Gungor, S, Hiz, S, Oktay, Y, Lochmuller, H, Zollino, M, Manuela, M, Marangi, G, Nigro, V, Torella, A, Pinelli, M, Amenta, S, Husain, RA, Grossmann, B, Rapp, M, Steen, C, Marquardt, I, Grimmel, M, Grasshoff, U, Korenke, GC, Owczarek-Lipska, M, Neidhardt, J, Radio, FC, Mancini, C, Sepulveda, DJC, Mc Walter, K, Begtrup, A, Crunk, A, Sacoto, MJG, Person, R, Schnur, RE, Mancardi, MM, Kreuder, F, Striano, P, Zara, F, Chung, WK, Marks, WA, van Eyk, CL, Webber, DL, Corbett, MA, Harper, K, Berry, JG, Mac Lennan, AH, Gecz, J, Tartaglia, M, Salpietro, V, Christodoulou, J, Kaslin, J, Padilla-Lopez, S, Bilguvar, K, Munchau, A, Ahmed, ZM, Hufnagel, RB, Fahey, MC, Maroofian, R, Houlden, H, Sticht, H, Mane, SM, LRad, A, Vona, B, Jin, SC, Haack, TB, Makowski, C, Hirsch, Y, Riazuddin, S, Kruer, MC

المصدر: American Journal of Human Genetics , 108 (10) pp. 2006-2016. (2021)

مصطلحات موضوعية: neurodevelopmental disorder, movement disorder, cerebral palsy, epilepsy, SPATA5L1, intellectual disability, AAA+ superfamily, ATPase, sensorineural hearing loss

وصف الملف: text

العلاقة: https://discovery.ucl.ac.uk/id/eprint/10139869/3/Kaiyrzhanov_AJHGTest-S-21-000408-SPATA5L1_Manuscript_R1%20FINAL_accepted%20version.pdf; https://discovery.ucl.ac.uk/id/eprint/10139869Test/

الإتاحة: https://discovery.ucl.ac.uk/id/eprint/10139869/3/Kaiyrzhanov_AJHGTest-S-21-000408-SPATA5L1_Manuscript_R1%20FINAL_accepted%20version.pdf
https://discovery.ucl.ac.uk/id/eprint/10139869Test/

المؤلفون: Oktay, Y., Gungor, S., Hiz, S., Yaramis, A., Aranguren-Ibanez, A., Yis, U., Sonmezler, E., Yilmaz, E., Ekinci, B., Aslan, M., Balaraju, S., Szabo, N., Laurie, S., Beltran, S., Hathazi, D., MacArthur, D., Roos, A., Lochmuller, H., Vernos, I., Horvath, R.

المصدر: EUROPEAN JOURNAL OF HUMAN GENETICS 28(SUPPL 1) 460-461

العلاقة: https://aperta.ulakbim.gov.tr/record/4383Test; oai:zenodo.org:4383

الإتاحة: https://aperta.ulakbim.gov.tr/record/4383Test

المؤلفون: Paketci, C., Edem, P., Hiz, S., Sonmezler, E., Soydemir, D., Uzan, G. Sarikaya, Oktay, Y., O'Heir, E., Beltran, S., Laurie, S., Topf, A., Lochmuller, H., Horvath, R., Yis, U.

المصدر: BRAIN & DEVELOPMENT 42(7) 539-545

العلاقة: https://aperta.ulakbim.gov.tr/record/5909Test; oai:zenodo.org:5909

الإتاحة: https://aperta.ulakbim.gov.tr/record/5909Test

المؤلفون: Richard, E. M., Bakhtiari, S., Marsh, A. P. L., Kaiyrzhanov, R., Wagner, M., Shetty, S., Pagnozzi, A., Nordlie, S. M., Guida, B. S., Cornejo, P., Magee, H., Liu, J., Norton, B. Y., Webster, R. I., Worgan, L., Hakonarson, H., Li, J., Guo, Y., Jain, M., Blesson, A., Rodan, L. H., Abbott, M. A., Comi, A., Cohen, J. S., Alhaddad, B., Meitinger, T., Lenz, D., Ziegler, A., Kotzaeridou, U., Brunet, T., Chassevent, A., Smith-Hicks, C., Ekstein, J., Weiden, T., Hahn, A., Zharkinbekova, N., Turnpenny, P., Tucci, A., Yelton, M., Horvath, R., Gungor, S., Hiz, S., Oktay, Y., Lochmuller, H., Zollino, M., Morleo, M., Marangi, G., Nigro, V., Torella, A., Pinelli, M., Amenta, S., Husain, R. A., Grossmann, B., Rapp, M., Steen, C., Marquardt, I., Grimmel, M., Grasshoff, U., Korenke, G. C., Owczarek-Lipska, M., Neidhardt, J., Radio, F. C., Mancini, C., Claps Sepulveda, D. J., McWalter, K., Begtrup, A., Crunk, A., Guillen Sacoto, M. J., Person, R., Schnur, R. E., Mancardi, M. M., Kreuder, F., Striano, P., Zara, F., Chung, W. K., Marks, W. A., van Eyk, C. L., Webber, D. L., Corbett, M. A., Harper, K., Berry, J. G., MacLennan, A. H., Gecz, J., Tartaglia, M., Salpietro, V., Christodoulou, J., Kaslin, J., Padilla-Lopez, S., Bilguvar, K., Munchau, A., Ahmed, Z. M., Hufnagel, R. B., Fahey, M. C., Maroofian, R., Houlden, H., Sticht, H., Mane, S. M., Rad, A., Vona, B., Jin, S. C., Haack, T. B., Makowski, C., Hirsch, Y., Riazuddin, S., Kruer, M. C.

مصطلحات موضوعية: ATPases Associated with Diverse Cellular Activities/genetics, Adolescent, Adult, Alleles, Animals, Cerebral Palsy/etiology/metabolism/*pathology, Child, Preschool, Epilepsy/etiology/metabolism/*pathology, Female, Genetic Predisposition to Disease, Genetic Variation, Hearing Loss/etiology/metabolism/*pathology, Humans, Infant, Newborn, Intellectual Disability/etiology/metabolism/*pathology, Male, Muscle Spasticity/etiology/metabolism/*pathology, Rats, Young Adult, AAA+ superfamily, ATPase, spata5l1, cerebral palsy, epilepsy, intellectual disability, movement disorder, neurodevelopmental disorder, sensorineural hearing loss

العلاقة: https://linkinghub.elsevier.com/retrieve/pii/S0002-9297Test(21)00302-5; Am J Hum Genet. 2021 Oct 7;108(10):2006-2016. doi:10.1016/j.ajhg.2021.08.003.; https://rde.dspace-express.com/handle/11287/622267Test; American journal of human genetics; PMC8546233

الإتاحة: https://doi.org/10.1016/j.ajhg.2021.08.003Test
https://rde.dspace-express.com/handle/11287/622267Test

المؤلفون: Toepffer, E. M., Ojeda, N. Meave, Bakhtiari, S., Efthymiou, S., Horvath, R., Lochmüller, H., Zaki, M. S., Azam, M., Ben-Omran, T., Karagoz, I., Kaiyrzhanov, R., Guliyeva, U., Gulieva, S., Salayev, K., Hiz, S., Hiatt, S. M., Kunstmann, E., Miryounesi, M., Hashemi-Gorji, F., Cooper, G. M.

المصدر: Neuropediatrics; 2023 Supplement 1, Vol. 54, pS1-S32, 32p

مصطلحات موضوعية: MOVEMENT disorders, GENETIC counseling, SKELETAL abnormalities, PATIENTS' families, DIAGNOSTIC imaging, ATAXIA

المؤلفون: Lecca, M., Pehlivan, D., Suñer, D.H., Weiss, K., Coste, T., Zweier, M., Oktay, Y., Danial-Farran, N., Rosti, V., Bonasoni, M.P., Malara, A., Contrò, G., Zuntini, R., Pollazzon, M., Pascarella, R., Neri, A., Fusco, C., Marafi, D., Mitani, T., Posey, J.E., Bayramoglu, S.E., Gezdirici, A., Hernandez-Rodriguez, J., Cladera, E.A., Miravet, E., Roldan-Busto, J., Ruiz, M.A., Bauzá, C.V., Ben-Sira, L., Sigaudy, S., Begemann, A., Unger, S., Güngör, S., Hiz, S., Sonmezler, E., Zehavi, Y., Jerdev, M., Balduini, A., Zuffardi, O., Horvath, R., Lochmüller, H., Rauch, A., Garavelli, L., Tournier-Lasserve, E., Spiegel, R., Lupski, J.R., Errichiello, E.

المصدر: American journal of human genetics, vol. 110, no. 4, pp. 681-690

مصطلحات موضوعية: Animals, Mice, Alleles, Brain Diseases/genetics, Cell Adhesion Molecules/genetics, Endothelial Cells/metabolism, Intracranial Hemorrhages/genetics, Nervous System Malformations/genetics, Neurodevelopmental Disorders/genetics, Tight Junctions/genetics, Humans, ESAM, blood-brain barrier, epilepsy, exome sequencing, global developmental delay, intellectual disability, intracranial hemorrhage, neurodevelopmental disorders, pregnancy loss, retinopathy, tight junctions

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/36996813; info:eu-repo/semantics/altIdentifier/eissn/1537-6605; https://serval.unil.ch/notice/serval:BIB_261A60E3FC55Test; urn:issn:0002-9297

الإتاحة: https://doi.org/10.1016/j.ajhg.2023.03.005Test
https://serval.unil.ch/notice/serval:BIB_261A60E3FC55Test

المؤلفون: Oktay, Y, Gungor, S, Hiz, S, Yaramis, A, Aranguren-Ibanez, A, Yis, U, Sonmezler, E, Yilmaz, E, Ekinci, B, Aslan, M, Balaraju, S, Szabo, N, Laurie, S, Beltran, S, Hathazi, D, MacArthur, D, Roos, A, Lochmuller, H, Vernos, I, Horvath, R

وصف الملف: application/pdf

العلاقة: https://www.repository.cam.ac.uk/handle/1810/317424Test

الإتاحة: https://doi.org/10.17863/CAM.64537Test
https://www.repository.cam.ac.uk/handle/1810/317424Test

المؤلفون: Bayram, E, Torun Bayram, M, Topcu, Y, Hiz, S

المصدر: Archives of Disease in Childhood ; volume 99, issue Suppl 2, page A518.1-A518 ; ISSN 0003-9888 1468-2044

مصطلحات موضوعية: Pediatrics, Perinatology and Child Health

الإتاحة: https://doi.org/10.1136/archdischild-2014-307384.1441Test

المؤلفون: Bayram, E, Topcu, Y, Cakmakci, H, Giray, O, Ercal, D, Hiz, S

المصدر: Archives of Disease in Childhood ; volume 99, issue Suppl 2, page A517.3-A518 ; ISSN 0003-9888 1468-2044

مصطلحات موضوعية: Pediatrics, Perinatology and Child Health

الإتاحة: https://doi.org/10.1136/archdischild-2014-307384.1440Test