المؤلفون: Parenti, I., Leitão, E., Kuechler, A., Villard, L., Goizet, C., Courdier, C., Bayat, A., Rossi, A., Julia, S., Bruel, A. L., Tran Mau-Them, F., Nambot, S., Lehalle, D., Willems, M., Lespinasse, J., Ghoumid, Jamal, Caumes, Roselyne, Smol, Thomas, El Chehadeh, S., Schaefer, E., Abi-Warde, M. T., Keren, B., Afenjar, A., Tabet, A. C., Levy, J., Maruani, A., Aledo-Serrano, Á., Garming, W., Milleret-Pignot, C., Chassevent, A., Koopmans, M., Verbeek, N. E., Person, R., Belles, R., Bellus, G., Salbert, B. A., Kaiser, F. J., Mazzola, L., Convers, P., Perrin, L., Piton, A., Wiegand, G., Accogli, A., Brancati, F., Benfenati, F., Chatron, N., Lewis-Smith, D., Thomas, R. H., Zara, F., Striano, P., Lesca, G., Depienne, C.

المساهمون: Université de Lille, CHU Lille, Maladies Rares du Développement : Génétique, Régulation et Protéomique (RADEME) - ULR 7364, Maladies RAres du DEveloppement embryonnaire et du MEtabolisme : du Phénotype au Génotype et à la Fonction - ULR 7364 RADEME

مصطلحات موضوعية: SYN1, synapsins, reflex epilepsy, genotype-phenotype correlation, neurodevelopmental disorders, autism spectrum disorders

وصف الملف: application/rdf+xml; charset=utf-8; application/pdf

Relation: Frontiers in Cell and Developmental Biology; Front Cell Dev Biol; http://hdl.handle.net/20.500.12210/84132

الاتاحة: https://hdl.handle.net/20.500.12210/84132

المؤلفون: Johannesen K. M., Iqbal S., Guazzi M., Mohammadi N. A., Perez-Palma E., Schaefer E., De Saint Martin A., Abiwarde M. T., McTague A., Pons R., Piton A., Kurian M. A., Ambegaonkar G., Firth H., Sanchis-Juan A., Deprez M., Jansen K., De Waele L., Briltra E. H., Verbeek N. E., van Kempen M., Fazeli W., Striano P., Zara F., Visser G., Braakman H. M. H., Haeusler M., Elbracht M., Vaher U., Smol T., Lemke J. R., Platzer K., Kennedy J., Klein K. M., Au P. Y. B., Smyth K., Kaplan J., Thomas M., Dewenter M. K., Dinopoulos A., Campbell A. J., Lal D., Lederer D., Liao V. W. Y., Ahring P. K., Moller R. S., Gardella E.

المساهمون: Johannesen, K. M., Iqbal, S., Guazzi, M., Mohammadi, N. A., Perez-Palma, E., Schaefer, E., De Saint Martin, A., Abiwarde, M. T., Mctague, A., Pons, R., Piton, A., Kurian, M. A., Ambegaonkar, G., Firth, H., Sanchis-Juan, A., Deprez, M., Jansen, K., De Waele, L., Briltra, E. H., Verbeek, N. E., van Kempen, M., Fazeli, W., Striano, P., Zara, F., Visser, G., Braakman, H. M. H., Haeusler, M., Elbracht, M., Vaher, U., Smol, T., Lemke, J. R., Platzer, K., Kennedy, J., Klein, K. M., Au, P. Y. B., Smyth, K., Kaplan, J., Thomas, M., Dewenter, M. K., Dinopoulos, A., Campbell, A. J., Lal, D., Lederer, D., Liao, V. W. Y., Ahring, P. K., Moller, R. S., Gardella, E.

مصطلحات موضوعية: Epilepsy, GABA, GABRB3, Genetic, Mapping, Genetic Association Studie, Human, Mutation, Phenotype, Receptors, GABA-A, Intellectual Disability

وصف الملف: STAMPA

Relation: info:eu-repo/semantics/altIdentifier/pmid/34906499; info:eu-repo/semantics/altIdentifier/wos/WOS:000797902900012; volume:24; firstpage:681; lastpage:693; numberofpages:13; journal:GENETICS IN MEDICINE; https://hdl.handle.net/11567/1080620

الاتاحة: https://hdl.handle.net/11567/1080620
https://doi.org/10.1016/j.gim.2021.11.004

المؤلفون: Johannesen, K. M., Iqbal, S., Guazzi, M., Mohammadi, N. A., Perez-Palma, E., Schaefer, E., De Saint Martin, A., Abiwarde, M. T., Mctague, A., Pons, R., Piton, A., Kurian, M. A., Ambegaonkar, G., Firth, H., Sanchis-Juan, A., Deprez, M., Jansen, K., De Waele, L., Briltra, E. H., Verbeek, N. E., Van Kempen, M., Fazeli, W., Striano, P., Zara, F., Visser, G., Braakman, H. M. H., Haeusler, M., Elbracht, M., Vaher, U., Smol, Thomas, Lemke, J. R., Platzer, K., Kennedy, J., Klein, K. M., Au, P. Y. B., Smyth, K., Kaplan, J., Thomas, M., Dewenter, M. K., Dinopoulos, A., Campbell, A. J., Lal, D., Lederer, D., Liao, V. W. Y., Ahring, P. K., Moller, R. S., Gardella, E.

المساهمون: Université de Lille, CHU Lille, University of Southern Denmark SDU, Maladies Rares du Développement : Génétique, Régulation et Protéomique (RADEME) - ULR 7364

مصطلحات موضوعية: Epilepsy, GABA, GABRB3, Genetics, Mapping

وصف الملف: application/octet-stream

Relation: Genetics in Medicine; Genet. Med.; http://hdl.handle.net/20.500.12210/114506

الاتاحة: https://hdl.handle.net/20.500.12210/114506

المؤلفون: Baldassari S., Picard F., Verbeek N. E., van Kempen M., Brilstra E. H., Lesca G., Conti V., Guerrini R., Bisulli F., Licchetta L., Pippucci T., Tinuper P., Hirsch E., de Saint Martin A., Chelly J., Rudolf G., Chipaux M., Ferrand-Sorbets S., Dorfmuller G., Sisodiya S., Balestrini S., Schoeler N., Hernandez-Hernandez L., Krithika S., Oegema R., Hagebeuk E., Gunning B., Deckers C., Berghuis B., Wegner I., Niks E., Jansen F. E., Braun K., de Jong D., Rubboli G., Talvik I., Sander V., Uldall P., Jacquemont M. -L., Nava C., Leguern E., Julia S., Gambardella A., d'Orsi G., Crichiutti G., Faivre L., Darmency V., Benova B., Krsek P., Biraben A., Lebre A. -S., Jennesson M., Sattar S., Marchal C., Nordli D. R., Lindstrom K., Striano P., Lomax L. B., Kiss C., Bartolomei F., Lepine A. F., Schoonjans A. -S., Stouffs K., Jansen A., Panagiotakaki E., Ricard-Mousnier B., Thevenon J., de Bellescize J., Catenoix H., Dorn T., Zenker M., Muller-Schluter K., Brandt C., Krey I., Polster T., Wolff M., Balci M., Rostasy K., Achaz G., Zacher P., Becher T., Cloppenborg T., Yuskaitis C. J., Weckhuysen S., Poduri A., Lemke J. R., Moller R. S., Baulac S.

المساهمون: Baldassari, S., Picard, F., Verbeek, N. E., van Kempen, M., Brilstra, E. H., Lesca, G., Conti, V., Guerrini, R., Bisulli, F., Licchetta, L., Pippucci, T., Tinuper, P., Hirsch, E., de Saint Martin, A., Chelly, J., Rudolf, G., Chipaux, M., Ferrand-Sorbets, S., Dorfmuller, G., Sisodiya, S., Balestrini, S., Schoeler, N., Hernandez-Hernandez, L., Krithika, S., Oegema, R., Hagebeuk, E., Gunning, B., Deckers, C., Berghuis, B., Wegner, I., Niks, E., Jansen, F. E., Braun, K., de Jong, D., Rubboli, G., Talvik, I., Sander, V., Uldall, P., Jacquemont, M. -L., Nava, C., Leguern, E., Julia, S., Gambardella, A., D'Orsi, G., Crichiutti, G., Faivre, L., Darmency, V., Benova, B., Krsek, P., Biraben, A., Lebre, A. -S., Jennesson, M., Sattar, S., Marchal, C., Nordli, D. R., Lindstrom, K., Striano, P., Lomax, L. B., Kiss, C., Bartolomei, F., Lepine, A. F., Schoonjans, A. -S., Stouffs, K., Jansen, A., Panagiotakaki, E., Ricard-Mousnier, B., Thevenon, J., de Bellescize, J., Catenoix, H., Dorn, T., Zenker, M., Muller-Schluter, K., Brandt, C., Krey, I., Polster, T., Wolff, M., Balci, M., Rostasy, K., Achaz, G., Zacher, P., Becher, T., Cloppenborg, T., Yuskaitis, C. J., Weckhuysen, S., Poduri, A., Lemke, J. R., Moller, R. S., Baulac, S.

مصطلحات موضوعية: DEPDC5, Focal cortical dysplasia, Genetic focal epilepsy, mTORC1 pathway, SUDEP

وصف الملف: STAMPA

Relation: info:eu-repo/semantics/altIdentifier/wos/WOS:000458017600019; volume:21; firstpage:398; lastpage:408; numberofpages:11; journal:GENETICS IN MEDICINE; http://hdl.handle.net/11567/1021985; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85052297159

الاتاحة: http://hdl.handle.net/11567/1021985
https://doi.org/10.1038/s41436-018-0060-2

المؤلفون: Mattison K. A., Tossing G., Mulroe F., Simmons C., Butleer K. M., Schreiber A., Alsadah A., Neeilson D. E., Naess K., Wedell A., Wredenberg A., Sorlin A., Mccann E., Burghel G. J., Menendez B., Hoganson G. E., Botto L. D., Filloux F. M., Aledo-Serrano A., Gil-Nagel A., Tatton-Brown K., Verbeek N. E., Van Der Zwaag B., Aleck K. A., Fazenbaker A. C., Balciuniene J., Dubbs H. A., Marsh E. D., Garber K., Ek J., Duno M., Hoei-Hansen C. E., Deardorff M. A., Raca G., Quindipan C., Van Hirtum-Das M., Breckpot J., Hammer T. B., Moller R. S., Whitney A., Douglas A. G. L., Kharbanda M., Brunetti-Pierri N., Morleo M., Nigro V., May H. J., Tao J. X., Argilli E., Sherr E. H., Dobyns W. B., Baines R. A., Warwicker J., Parker J. A., Banka S., Campeau P. M., Escayg A.

المساهمون: Mattison, K. A., Tossing, G., Mulroe, F., Simmons, C., Butleer, K. M., Schreiber, A., Alsadah, A., Neeilson, D. E., Naess, K., Wedell, A., Wredenberg, A., Sorlin, A., Mccann, E., Burghel, G. J., Menendez, B., Hoganson, G. E., Botto, L. D., Filloux, F. M., Aledo-Serrano, A., Gil-Nagel, A., Tatton-Brown, K., Verbeek, N. E., Van Der Zwaag, B., Aleck, K. A., Fazenbaker, A. C., Balciuniene, J., Dubbs, H. A., Marsh, E. D., Garber, K., Ek, J., Duno, M., Hoei-Hansen, C. E., Deardorff, M. A., Raca, G., Quindipan, C., Van Hirtum-Das, M., Breckpot, J., Hammer, T. B., Moller, R. S., Whitney, A., Douglas, A. G. L., Kharbanda, M., Brunetti-Pierri, N., Morleo, M., Nigro, V., May, H. J., Tao, J. X., Argilli, E., Sherr, E. H., Dobyns, W. B., Baines, R. A., Warwicker, J., Parker, J. A., Banka, S., Campeau, P. M., Escayg, A.

مصطلحات موضوعية: ATP6V0C, V-ATPase, VMA3, epilepsy genetic, neurodevelopmental disorders

Relation: info:eu-repo/semantics/altIdentifier/pmid/36074901; info:eu-repo/semantics/altIdentifier/wos/WOS:000927881300001; journal:BRAIN; https://hdl.handle.net/11591/482528

الاتاحة: https://hdl.handle.net/11591/482528
https://doi.org/10.1093/brain/awac330

المؤلفون: Baldassari S., Picard F., Verbeek N. E., van Kempen M., Brilstra E. H., Lesca G., Conti V., Guerrini R., Bisulli F., Licchetta L., Tinuper P., Hirsch E., de Saint Martin A., Chelly J., Rudolf G., Chipaux M., Ferrand-Sorbets S., Dorfmuller G., Sisodiya S., Balestrini S., Schoeler N., Hernandez-Hernandez L., Krithika S., Oegema R., Hagebeuk E., Gunning B., Deckers C., Berghuis B., Wegner I., Niks E., Jansen F. E., Braun K., de Jong D., Rubboli G., Talvik I., Sander V., Uldall P., Jacquemont M. -L., Nava C., Leguern E., Julia S., Gambardella A., d'Orsi G., Crichiutti G., Faivre L., Darmency V., Benova B., Krsek P., Biraben A., Lebre A. -S., Jennesson M., Sattar S., Marchal C., Nordli D. R., Lindstrom K., Striano P., Lomax L. B., Kiss C., Bartolomei F., Lepine A. F., Schoonjans A. -S., Stouffs K., Jansen A., Panagiotakaki E., Ricard-Mousnier B., Thevenon J., de Bellescize J., Catenoix H., Dorn T., Zenker M., Muller-Schluter K., Brandt C., Krey I., Polster T., Wolff M., Balci M., Rostasy K., Achaz G., Zacher P., Becher T., Cloppenborg T., Yuskaitis C. J., Weckhuysen S., Poduri A., Lemke J. R., Moller R. S., Baulac S., Pippucci, Tommaso

المساهمون: Baldassari S., Picard F., Verbeek N.E., van Kempen M., Brilstra E.H., Lesca G., Conti V., Guerrini R., Bisulli F., Licchetta L., Pippucci T., Tinuper P., Hirsch E., de Saint Martin A., Chelly J., Rudolf G., Chipaux M., Ferrand-Sorbets S., Dorfmuller G., Sisodiya S., Balestrini S., Schoeler N., Hernandez-Hernandez L., Krithika S., Oegema R., Hagebeuk E., Gunning B., Deckers C., Berghuis B., Wegner I., Niks E., Jansen F.E., Braun K., de Jong D., Rubboli G., Talvik I., Sander V., Uldall P., Jacquemont M.-L., Nava C., Leguern E., Julia S., Gambardella A., d'Orsi G., Crichiutti G., Faivre L., Darmency V., Benova B., Krsek P., Biraben A., Lebre A.-S., Jennesson M., Sattar S., Marchal C., Nordli D.R., Lindstrom K., Striano P., Lomax L.B., Kiss C., Bartolomei F., Lepine A.F., Schoonjans A.-S., Stouffs K., Jansen A., Panagiotakaki E., Ricard-Mousnier B., Thevenon J., de Bellescize J., Catenoix H., Dorn T., Zenker M., Muller-Schluter K., Brandt C., Krey I., Polster T., Wolff M., Balci M., Rostasy K., Achaz G., Zacher P., Becher T., Cloppenborg T., Yuskaitis C.J., Weckhuysen S., Poduri A., Lemke J.R., Moller R.S., Baulac S.

مصطلحات موضوعية: DEPDC5, Focal cortical dysplasia, Genetic focal epilepsy, mTORC1 pathway, SUDEP, Adolescent, Brugada Syndrome, Child, Preschool, DNA Copy Number Variation, Epilepsy, Female, GTPase-Activating Protein, Genetic Predisposition to Disease, Human, INDEL Mutation, Infant, Newborn, Loss of Function Mutation, Male, Mechanistic Target of Rapamycin Complex 1, Multiprotein Complexe, Pedigree, Repressor Protein, Seizure, Signal Transduction, Tumor Suppressor Proteins

وصف الملف: STAMPA

Relation: info:eu-repo/semantics/altIdentifier/pmid/30093711; info:eu-repo/semantics/altIdentifier/wos/WOS:000458017600019; volume:21; issue:2; firstpage:398; lastpage:408; numberofpages:11; journal:GENETICS IN MEDICINE; info:eu-repo/grantAgreement/EC/H2020/682345; http://hdl.handle.net/11585/712091; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85052297159; http://www.nature.com/gim/index.html

الاتاحة: http://hdl.handle.net/11585/712091
https://doi.org/10.1038/s41436-018-0060-2
http://www.nature.com/gim/index.html

المؤلفون: Johannesen, K. M., Iqbal, S., Guazzi, M., Mohammadi, N. A., Perez-Palma, E., Schaefer, E., de Saint Martin, A., Abiwarde, M. T., Mctague, A., Pons, R., Piton, A., Kurian, M. A., Ambegaonkar, G., Firth, H., Sanchis-Juan, A., Deprez, M., Jansen, K., de Waele, L., Briltra, E. H., Verbeek, N. E., van Kempen, M., Fazeli, W., Striano, P., Zara, F., Visser, G., Braakman, H. M. H., Haeusler, M., Elbracht, M., Vaher, U., Smol, Thomas, Lemke, J. R., Platzer, K., Kennedy, J., Klein, K. M., Au, P. Y. B., Smyth, K., Kaplan, J., Thomas, M., Dewenter, M. K., Dinopoulos, A., Campbell, A. J., Lal, D., Lederer, D., Liao, V. W. Y., Ahring, P. K., Moller, R. S., Gardella, E.

المساهمون: University of Southern Denmark (SDU), Maladies RAres du DEveloppement embryonnaire et du MEtabolisme : du Phénotype au Génotype et à la Fonction - ULR 7364 (RADEME), Université de Lille-Centre Hospitalier Régional Universitaire CHU Lille (CHRU Lille)

المصدر: ISSN: 1098-3600.

مصطلحات موضوعية: Epilepsy, GABA, GABRB3, Genetics, Mapping, [SDV]Life Sciences [q-bio]

Relation: info:eu-repo/semantics/altIdentifier/pmid/34906499; hal-04617309; https://hal.univ-lille.fr/hal-04617309; MEDRXIV: 2021.06.04.21256727; PUBMED: 34906499

الاتاحة: https://hal.univ-lille.fr/hal-04617309
https://doi.org/10.1016/j.gim.2021.11.004

المؤلفون: Parenti I., Leitao E., Kuechler A., Villard L., Goizet C., Courdier C., Bayat A., Rossi A., Julia S., Bruel A. -L., Tran Mau-Them F., Nambot S., Lehalle D., Willems M., Lespinasse J., Ghoumid J., Caumes R., Smol T., El Chehadeh S., Schaefer E., Abi-Warde M. -T., Keren B., Afenjar A., Tabet A. -C., Levy J., Maruani A., Aledo-Serrano A., Garming W., Milleret-Pignot C., Chassevent A., Koopmans M., Verbeek N. E., Person R., Belles R., Bellus G., Salbert B. A., Kaiser F. J., Mazzola L., Convers P., Perrin L., Piton A., Wiegand G., Accogli A., Brancati F., Benfenati F., Chatron N., Lewis-Smith D., Thomas R. H., Zara F., Striano P., Lesca G., Depienne C.

المساهمون: Parenti, I., Leitao, E., Kuechler, A., Villard, L., Goizet, C., Courdier, C., Bayat, A., Rossi, A., Julia, S., Bruel, A. -L., Tran Mau-Them, F., Nambot, S., Lehalle, D., Willems, M., Lespinasse, J., Ghoumid, J., Caumes, R., Smol, T., El Chehadeh, S., Schaefer, E., Abi-Warde, M. -T., Keren, B., Afenjar, A., Tabet, A. -C., Levy, J., Maruani, A., Aledo-Serrano, A., Garming, W., Milleret-Pignot, C., Chassevent, A., Koopmans, M., Verbeek, N. E., Person, R., Belles, R., Bellus, G., Salbert, B. A., Kaiser, F. J., Mazzola, L., Convers, P., Perrin, L., Piton, A., Wiegand, G., Accogli, A., Brancati, F., Benfenati, F., Chatron, N., Lewis-Smith, D., Thomas, R. H., Zara, F., Striano, P., Lesca, G., Depienne, C.

مصطلحات موضوعية: autism spectrum disorder, genotype-phenotype correlation, neurodevelopmental disorder, reflex epilepsy, SYN1, synapsins

وصف الملف: ELETTRONICO

Relation: info:eu-repo/semantics/altIdentifier/wos/WOS:000928207300001; volume:10; firstpage:1019715; lastpage:1019715; numberofpages:1; journal:FRONTIERS IN CELL AND DEVELOPMENTAL BIOLOGY; https://hdl.handle.net/11567/1141919; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85144967645

الاتاحة: https://hdl.handle.net/11567/1141919
https://doi.org/10.3389/fcell.2022.1019715

المؤلفون: Walz K., Cohen D., Neilsen P. M., Foster J., Brancati F., Demir K., Fisher R., Moffat M., Verbeek N. E., Bjorgo K., Lo Castro A., Curatolo P., Novelli G., Abad C., Lei C., Zhang L., Diaz-Horta O., Young J. I., Callen D. F., Tekin M.

المساهمون: Walz, K, Cohen, D, Neilsen, Pm, Foster, J, Brancati, F, Demir, K, Fisher, R, Moffat, M, Verbeek, Ne, Bjorgo, K, Lo Castro, A, Curatolo, P, Novelli, G, Abad, C, Lei, C, Zhang, L, Diaz-Horta, O, Young, Ji, Callen, Df, Tekin, M

مصطلحات موضوعية: Animal, Cell Cycle, Cell Line, Tumor, Female, Human, Male, Mice, Mutant Strain, Proteasome Endopeptidase Complex, Protein Stability, Protein Structure, Tertiary, Abnormalities, Multiple, Bone Diseases, Developmental, DNA-Binding Protein, Facie, Intellectual Disability, Mutation, Proteolysi, Repressor Protein, Tooth Abnormalities, Settore MED/03 - GENETICA MEDICA

Relation: info:eu-repo/semantics/altIdentifier/pmid/25413698; info:eu-repo/semantics/altIdentifier/wos/WOS:000348149500005; volume:134; issue:2; firstpage:181; lastpage:190; numberofpages:10; journal:HUMAN GENETICS; http://hdl.handle.net/2108/244447; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84925534257

الاتاحة: http://hdl.handle.net/2108/244447
https://doi.org/10.1007/s00439-014-1509-2

المؤلفون: Skraban, C. M., Wells, C. F., Markose, P., Cho, M. T., Nesbitt, A. I., Au, P Y B, Begtrup, A., Bernat, J. A., Bird, L. M, Cao, K., de Brouwer, A P M, Denenberg, E H, Douglas, G, Gibson, K M, Grand, K, Goldenberg, A, Innes, A M, Juusola, J, Kempers, M, Kinning, E, Markie, D M, Owens, Martina, Payne, K, Person, R, Pfundt, R, Stocco, A, Turner, Claire L., Verbeek, N E, Walsh, L E, Warner, T C, Wheeler, P G, Wieczorek, D, Wilkens, A B, Zonneveld-Huijssoon, E, Kleefstra, T, Robertson, S P, Santani, A, van Gassen, K L I, Deardorff, M A

مصطلحات موضوعية: Wessex Classification Subject Headings::Oncology. Pathology.::Genetics

Relation: https://linkinghub.elsevier.com/retrieve/pii/S0002-9297(17)30237-9; WDR26 Haploinsufficiency Causes a Recognizable Syndrome of Intellectual Disability, Seizures, Abnormal Gait, and Distinctive Facial Features. 2017, 101 (1):139-148 Am. J. Hum. Genet.; http://hdl.handle.net/11287/620408; American journal of human genetics

الاتاحة: http://hdl.handle.net/11287/620408
https://doi.org/10.1016/j.ajhg.2017.06.002

المؤلفون: Skraban, C. M., Wells, C. F., Markose, P., Cho, M. T., Nesbitt, A. I., Au, P Y B, Begtrup, A., Bernat, J. A., Bird, L. M, Cao, K., de Brouwer, A P M, Denenberg, E H, Douglas, G, Gibson, K M, Grand, K, Goldenberg, A, Innes, A M, Juusola, J, Kempers, M, Kinning, E, Markie, D M, Owens, Martina, Payne, K, Person, R, Pfundt, R, Stocco, A, Turner, Claire L., Verbeek, N E, Walsh, L E, Warner, T C, Wheeler, P G, Wieczorek, D, Wilkens, A B, Zonneveld-Huijssoon, E, Kleefstra, T, Robertson, S P, Santani, A, van Gassen, K L I, Deardorff, M A

مصطلحات موضوعية: Wessex Classification Subject Headings::Oncology. Pathology.::Genetics

Relation: https://linkinghub.elsevier.com/retrieve/pii/S0002-9297(17)30237-9; WDR26 Haploinsufficiency Causes a Recognizable Syndrome of Intellectual Disability, Seizures, Abnormal Gait, and Distinctive Facial Features. 2017, 101 (1):139-148 Am. J. Hum. Genet.; American journal of human genetics; http://hdl.handle.net/11287/620408

الاتاحة: http://hdl.handle.net/11287/620408
https://doi.org/10.1016/j.ajhg.2017.06.002

المؤلفون: van Harssel, J. J. T., Weckhuysen, S., van Kempen, M. J. A., Hardies, K., Verbeek, N. E., de Kovel, C. G. F., Gunning, W. B., van Daalen, E., de Jonge, M. V., Jansen, A. C., Vermeulen, R. J., Arts, W. F. M., Verhelst, H., Fogarasi, A., de Rijk-van Andel, J. F., Kelemen, A., Lindhout, D., De Jonghe, P., Koeleman, B. P. C., Suls, A., Brilstra, E. H.

المصدر: neurogenetics ; volume 14, issue 1, page 23-34 ; ISSN 1364-6745 1364-6753

الاتاحة: http://dx.doi.org/10.1007/s10048-013-0353-1
http://link.springer.com/content/pdf/10.1007/s10048-013-0353-1.pdf
http://link.springer.com/article/10.1007/s10048-013-0353-1/fulltext.html
http://link.springer.com/content/pdf/10.1007/s10048-013-0353-1

المؤلفون: Battaglia D.

المساهمون: Syrbe, S., Harms, F. L., Parrini, E., Montomoli, M., Mutze, U., Helbig, K. L., Polster, T., Albrecht, B., Bernbeck, U., Van Binsbergen, E., Biskup, S., Burglen, L., Denecke, J., Heron, B., Heyne, H. O., Hoffmann, G. F., Hornemann, F., Matsushige, T., Matsuura, R., Kato, M., Korenke, G. C., Kuechler, A., Lammer, C., Merkenschlager, A., Mignot, C., Ruf, S., Nakashima, M., Saitsu, H., Stamberger, H., Pisano, T., Tohyama, J., Weckhuysen, S., Werckx, W., Wickert, J., Mari, F., Verbeek, N. E., Moller, R. S., Koeleman, B., Matsumoto, N., Dobyns, W. B., Lemke, J. R., Kutsche, K., Battaglia, Domenica Immacolata, Guerrini, R.

مصطلحات موضوعية: Epileptic encephalopathy, Hypomyelination, Myoclonic epilepsy, Pontocerebellar atrophy, West syndrome, Adolescent, Atrophy, Brain, Brain Diseases, Carrier Proteins, Cells, Cultured, Child, Preschool, Disease Progression, Epilepsy, Female, Fibroblasts, Humans, Male, Microfilament Proteins, Models, Molecular, Mutation, Neurodevelopmental Disorders, Phenotype, Protein Aggregation, Pathological, Young Adult, Settore MED/39 - NEUROPSICHIATRIA INFANTILE

Relation: info:eu-repo/semantics/altIdentifier/pmid/29050398; info:eu-repo/semantics/altIdentifier/wos/WOS:000408602500016; volume:140; issue:9; firstpage:2322; lastpage:2336; numberofpages:15; issueyear:2017; journal:BRAIN; http://hdl.handle.net/10807/161898; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85031788679

الاتاحة: http://hdl.handle.net/10807/161898
https://doi.org/10.1093/brain/awx195