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: 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.

المساهمون: 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.

مصطلحات موضوعية: AAA+ superfamily, ATPase, cerebral palsy, epilepsy, intellectual disability, movement disorder, neurodevelopmental disorder, sensorineural hearing lo, SPATA5L1, ATPases Associated with Diverse Cellular Activitie, Adolescent, Adult, Allele, Animal, Child, Preschool, Female, Hearing Lo, Human, Infant, Newborn, Male, Muscle Spasticity, Rat, Young Adult, Genetic Predisposition to Disease, Genetic Variation

العلاقة: info:eu-repo/semantics/altIdentifier/wos/WOS:000705304300014; volume:108; issue:10; firstpage:2006; lastpage:2016; numberofpages:11; journal:AMERICAN JOURNAL OF HUMAN GENETICS; http://hdl.handle.net/11588/873451Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85116905632

الإتاحة: https://doi.org/10.1016/j.ajhg.2021.08.003Test
http://hdl.handle.net/11588/873451Test

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.

المساهمون: 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.

مصطلحات موضوعية: AAA+ superfamily, ATPase, cerebral palsy, epilepsy, intellectual disability, movement disorder, neurodevelopmental disorder, sensorineural hearing lo, SPATA5L1, ATPases Associated with Diverse Cellular Activitie, Adolescent, Adult, Allele, Animal, Child, Preschool, Female, Hearing Lo, Human, Infant, Newborn, Male, Muscle Spasticity, Rat, Young Adult, Genetic Predisposition to Disease, Genetic Variation

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/34626583; info:eu-repo/semantics/altIdentifier/wos/WOS:000705304300014; volume:108; issue:10; firstpage:2006; lastpage:2016; numberofpages:11; journal:AMERICAN JOURNAL OF HUMAN GENETICS; http://hdl.handle.net/11591/460732Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85116905632

الإتاحة: https://doi.org/10.1016/j.ajhg.2021.08.003Test
http://hdl.handle.net/11591/460732Test

المؤلفون: Zollino M., Marangi G.

المساهمون: 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.

مصطلحات موضوعية: AAA+ superfamily, ATPase, cerebral palsy, epilepsy, intellectual disability, movement disorder, neurodevelopmental disorder, sensorineural hearing loss, SPATA5L1, ATPases Associated with Diverse Cellular Activities, Adolescent, Adult, Alleles, Animals, Child, Preschool, Female, Hearing Loss, Humans, Infant, Newborn, Male, Muscle Spasticity, Rats, Young Adult, Genetic Predisposition to Disease, Genetic Variation, Settore MED/03 - GENETICA MEDICA

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/34626583; info:eu-repo/semantics/altIdentifier/wos/WOS:000705304300014; volume:108; issue:10; firstpage:2006; lastpage:2016; numberofpages:11; issueyear:2021; journal:AMERICAN JOURNAL OF HUMAN GENETICS; http://hdl.handle.net/10807/197146Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85116905632

الإتاحة: https://doi.org/10.1016/j.ajhg.2021.08.003Test
http://hdl.handle.net/10807/197146Test