المؤلفون: Kassabian B, Levy AM, Gardella E, Aledo-Serrano A, Ananth AL, Brea-Fernández AJ, Caumes R, Chatron N, Dainelli A, De Wachter M, Denommé-Pichon AS, Dye TJ, Fazzi E, Felt R, Fernández-Jaén A, Fernández-Prieto M, Gantz E, Gasperowicz P, Gil-Nagel A, Gómez-Andrés D, Greiner HM, Guerrini R, Haanpää MK, Helin M, Hoyer J, Hurst ACE, Kallish S, Karkare SN, Khan A, Kleinendorst L, Koch J, Kothare SV, Koudijs SM, Lagae L, Lakeman P, Leppig KA, Lesca G, Lopergolo D, Lusk L, Mackenzie A, Mei D, Møller RS, Pereira EM, Platzer K, Quelin C, Revah-Politi A, Rheims S, Rodríguez-Palmero A, Rossi A, Santorelli F, Seinfeld S, Sell E, Stephenson D, Szczaluba K, Trinka E, Umair M, Van Esch H, van Haelst MM, Veenma DCM, Weber S, Weckhuysen S, Zacher P, Tümer Z, Rubboli G.

المساهمون: Kassabian B, Levy Am, Gardella E, Aledo-Serrano A, Ananth Al, Brea-Fernández Aj, Caumes R, Chatron N, Dainelli A, De Wachter M, Denommé-Pichon A, Dye Tj, Fazzi E, Felt R, Fernández-Jaén A, Fernández-Prieto M, Gantz E, Gasperowicz P, Gil-Nagel A, Gómez-Andrés D, Greiner Hm, Guerrini R, Haanpää, Mk, Helin M, Hoyer J, Hurst Ace, Kallish S, Karkare Sn, Khan A, Kleinendorst L, Koch J, Kothare Sv, Koudijs Sm, Lagae L, Lakeman P, Leppig Ka, Lesca G, Lopergolo D, Lusk L, Mackenzie A, Mei D, Møller R, Pereira Em, Platzer K, Quelin C, Revah-Politi A, Rheims S, Rodríguez-Palmero A, Rossi A, Santorelli F, Seinfeld S, Sell E, Stephenson D, Szczaluba K, Trinka E, Umair M, Van Esch H, van Haelst Mm, Veenma Dcm, Weber S, Weckhuysen S, Zacher P, Tümer Z, Rubboli G.

مصطلحات موضوعية: DEE‐SWAS, ESES, PSD‐95, SHINE syndrome, epilepsy

Relation: info:eu-repo/semantics/altIdentifier/pmid/38135915; info:eu-repo/semantics/altIdentifier/wos/WOS:001176458900001; volume:65; issue:4; firstpage:1029; lastpage:1045; numberofpages:17; journal:EPILEPSIA; https://hdl.handle.net/11379/598569; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85185516622

الاتاحة: https://hdl.handle.net/11379/598569
https://doi.org/10.1111/epi.17876

المؤلفون: Serpieri, V., D'Abrusco, F., Dempsey, J.C., Cheng, Y.H., Arrigoni, F., Baker, J., Battini, R., Bertini, E.S., Borgatti, R., Christman, A.K., Curry, C., D'Arrigo, S., Fluss, J., Freilinger, M., Gana, S., Ishak, G.E., Leuzzi, V., Loucks, H., Manti, F., Mendelsohn, N., Merlini, L., Miller, C.V., Muhammad, A., Nuovo, S., Romaniello, R., Schmidt, W., Signorini, S., Siliquini, S., Szczałuba, K., Vasco, G., Wilson, M., Zanni, G., Boltshauser, E., Doherty, D., Valente, E.M.

المساهمون: University of Washington Center for Mendelian Genomics (UW-CMG) group, Bamshad, M.J., Leal, S.M., Nickerson, D.A., Anderson, P., Bacus, T.J., Blue, E.E., Brower, K., Buckingham, K.J., Chong, J.X., Cornejo Sánchez, D., Davis, C.P., Davis, C.J., Frazar, C.D., Gomeztagle-Burgess, K., Gordon, W.W., Horike-Pyne, M., Hurless, J.R., Jarvik, G.P., Johanson, E., Kolar, J.T., Marvin, C.T., McGee, S., McGoldrick, D.J., Mekonnen, B., Nielsen, P.M., Patterson, K., Radhakrishnan, A., Richardson, M.A., Roote, G.T., Ryke, E.L., Schrauwen, I., Shively, K.M., Smith, J.D., Tackett, M., Wang, G., Weiss, J.M., Wheeler, M.M., Yi, Q., Zhang, X.

المصدر: Journal of medical genetics, vol. 59, no. 9, pp. 888-894

مصطلحات موضوعية: Abnormalities, Multiple/genetics, Cerebellar Ataxia/genetics, Cerebellum/abnormalities, Cerebellum/diagnostic imaging, Eye Abnormalities/genetics, Haploinsufficiency/genetics, Humans, Intellectual Disability/genetics, Kidney Diseases, Cystic/diagnosis, Cystic/genetics, Male, Phenotype, Repressor Proteins/genetics, Retina/abnormalities, and neonatal diseases and abnormalities, central nervous system diseases, cerebellar diseases, congenital, early diagnosis, genetic variation, hereditary

وصف الملف: application/pdf

Relation: info:eu-repo/semantics/altIdentifier/pmid/34675124; info:eu-repo/semantics/altIdentifier/eissn/1468-6244; info:eu-repo/semantics/altIdentifier/urn/urn:nbn:ch:serval-BIB_7731D4F154299; https://serval.unil.ch/notice/serval:BIB_7731D4F15429; https://serval.unil.ch/resource/serval:BIB_7731D4F15429.P001/REF.pdf

الاتاحة: https://serval.unil.ch/notice/serval:BIB_7731D4F15429
https://doi.org/10.1136/jmedgenet-2021-108114
https://serval.unil.ch/resource/serval:BIB_7731D4F15429.P001/REF.pdf
http://nbn-resolving.org/urn/resolver.pl?urn=urn:nbn:ch:serval-BIB_7731D4F154299

المؤلفون: Isidor B., Ebstein F., Hurst A., Vincent M., Bader I., Rudy N.L., Cogne B., Mayr J., Brehm A., Bupp C., Warren K., Bacino C.A., Gerard A., Ranells J.D., Metcalfe K.A., van Bever Y., Jiang Y.-H., Mendelssohn B.A., Cope H., Rosenfeld J.A., Blackburn P.R., Goodenberger M.L., Kearney H.M., Kennedy J., Scurr I., Szczaluba K., Ploski R., de Saint Martin A., Alembik Y., Piton A., Bruel A.-L., Thauvin-Robinet C., Strong A., Diderich K.E.M., Bourgeois D., Dahan K., Vignard V., Bonneau D., Colin E., Barth M., Camby C., Baujat G., Briceño I., Gómez A., Deb W., Conrad S., Besnard T., Bézieau S., Krüger E., Küry S., Stankiewicz P.

المصدر: Universidad de La Sabana ; Intellectum Repositorio Universidad de La Sabana

مصطلحات موضوعية: Intellectual disability, Interferon, Proteasome, PSMD12, Thumb

وصف الملف: application/pdf

Relation: Genetics in Medicine Vol. 24 N° 1 p. 179-191; Isidor, B., Ebstein, F., Hurst, A., Vincent, M., Bader, I., Rudy, N.L., Cogne, B., Mayr, J., Brehm, A., Bupp, C., Warren, K., Bacino, C.A., Gerard, A., Ranells, J.D., Metcalfe, K.A., van Bever, Y., Jiang, Y.-H., Mendelssohn, B.A., Cope, H., Rosenfeld, J.A., Blackburn, P.R., Goodenberger, M.L., Kearney, H.M., Kennedy, J., Scurr, I., Szczaluba, K., Ploski, R., de Saint Martin, A., Alembik, Y., Piton, A., Bruel, A.-L., Thauvin-Robinet, C., Strong, A., Diderich, K.E.M., Bourgeois, D., Dahan, K., Vignard, V., Bonneau, D., Colin, E., Barth, M., Camby, C., Baujat, G., Briceño, I., Gómez, A., Deb, W., Conrad, S., Besnard, T., Bézieau, S., Krüger, E., Küry, S., Stankiewicz, P. Stankiewicz-Isidor syndrome: expanding the clinical and molecular phenotype (2022) Genetics in Medicine, 24 (1), pp. 179-191; https://www.scopus.com/inward/record.uri?eid=2-s2.0-85122377883&doi=10.1016%2fj.gim.2021.09.005&partnerID=40&md5=613a289df9d6c08f673e5d48e6e8942c; http://hdl.handle.net/10818/60077

الاتاحة: http://hdl.handle.net/10818/60077
https://www.scopus.com/inward/record.uri?eid=2-s2.0-85122377883&doi=10.1016%2fj.gim.2021.09.005&partnerID=40&md5=613a289df9d6c08f673e5d48e6e8942c
https://doi.org/10.1016/j.gim.2021.09.005

المؤلفون: Ivanovski, I, Djuric, O, Caraffi, SG, Santodirocco, D, Pollazzon, M, Rosato, S, Cordelli, D M, Abdalla, E, Accorsi, P, Adam, MP, Ajmone, PF, Badura-Stronka, M, Baldo, C, Baldi, M, Bayat, A, Bigoni, S, Bonvicini, F, Breckpot, J, Callewaert, B, Cocchi, G, Cuturilo, G, De Brasi, D, DeVriendt, K, Dinulos, MB, Hjortshoj, TD, Epifanio, R, Faravelli, F, Fiumara, A, Formisano, D, Giordano, L, Grasso, M, Gronborg, S, Iodice, A, Iughetti, L, Kuburovic, V, Kutkowska-Kazmierczak, A, Lacombe, D, Lo Rizzo, C, Luchetti, A, Malbora, B, Mammi, I, Mari, F, Montorsi, G, Moutton, S, Moller, RS, Muschke, P, Nielsen, JEK, Obersztyn, E, Pantaleoni, C, Pellicciari, A, Pisanti, MA, Prpic, I, Poch-Olive, ML, Raviglione, F, Renieri, A, Ricci, E, Rivieri, F, Santen, GW, Savasta, S, Scarano, G, Schanze, I, Selicorni, A, Silengo, M, Smigiel, R, Spaccini, L, Sorge, G, Szczaluba, K, Tarani, L, Tone, LG, Toutain, A, Trimouille, A, Valera, ET, Vergano, SS, Zanotta, N, Zenker, M, Conidi, Andrea, Zollino, M, Rauch, A, Zweier, C, Garavelli, L

المصدر: Ivanovski , I , Djuric , O , Caraffi , SG , Santodirocco , D , Pollazzon , M , Rosato , S , Cordelli , D M , Abdalla , E , Accorsi , P , Adam , MP , Ajmone , PF , Badura-Stronka , M , Baldo , C , Baldi , M , Bayat , A , Bigoni , S , Bonvicini , F , Breckpot , J , Callewaert , B , Cocchi , G , Cuturilo , G , De Brasi , D , DeVriendt , K , Dinulos , MB , Hjortshoj ....

مصطلحات موضوعية: /dk/atira/pure/keywords/researchprograms/AFL001000/EMCMGC021302, name=EMC MGC-02-13-02

وصف الملف: application/pdf

الاتاحة: https://pure.eur.nl/en/publications/4b4c8f16-695b-49be-91d2-48752f3de9da
https://doi.org/10.1038/gim.2017.221
https://pure.eur.nl/ws/files/47977608/RePub-114496-OA.pdf
http://hdl.handle.net/1765/114496

المؤلفون: Szczałuba, K., Szymańska, K., Bekiesińska-Figatowska, M., Jurkiewicz, E., Mądzik, J., Obersztyn, E., Mazurczak, T.

المصدر: Neurology ; volume 74, issue 22, page 1835-1835 ; ISSN 0028-3878 1526-632X

الاتاحة: http://dx.doi.org/10.1212/wnl.0b013e3181e0f7f8
https://www.neurology.org/doi/pdfdirect/10.1212/WNL.0b013e3181e0f7f8

المؤلفون: Rydzanicz, M., Wachowska, M., Cook, E.C., Lisowski, P., Kuźniewska, B., Szymańska, K., Diecke, S., Prigione, A., Szczałuba, K., Szybińska, A., Koppolu, A., Murcia Pienkowski, V., Kosińska, J., Wiweger, M., Kostrzewa, G., Brzozowska, M., Domańska-Pakieła, D., Jurkiewicz, E., Stawiński, P., Gromadka, A., Zielenkiewicz, P., Demkow, U., Dziembowska, M., Kuźnicki, J., Creamer, T.P., Płoski, R.

مصطلحات موضوعية: Function and Dysfunction of the Nervous System, Technology Platforms

Relation: Novel calcineurin A (PPP3CA) variant associated with epilepsy, constitutive enzyme activation and downregulation of protein expression. Rydzanicz, M. and Wachowska, M. and Cook, E.C. and Lisowski, P. and Kuźniewska, B. and Szymańska, K. and Diecke, S. and Prigione, A. and Szczałuba, K. and Szybińska, A. and Koppolu, A. and Murcia Pienkowski, V. and Kosińska, J. and Wiweger, M. and Kostrzewa, G. and Brzozowska, M. and Domańska-Pakieła, D. and Jurkiewicz, E. and Stawiński, P. and Gromadka, A. and Zielenkiewicz, P. and Demkow, U. and Dziembowska, M. and Kuźnicki, J. and Creamer, T.P. and Płoski, R. European Journal of Human Genetics 27 (1): 61-69. January 2019

الاتاحة: http://edoc.mdc-berlin.de/17777/
https://edoc.mdc-berlin.de/17777/
https://doi.org/10.1038/s41431-018-0254-8

المؤلفون: Dobyns, WB, Aldinger, KA, Ishak, G E, Mirzaa, GM, Timms, AE, Grout, ME, Dremmen, Marjolein, Schot, Rachel, Vandervore, Laura, van Slegtenhorst, Marjon, Wilke, Martina, Kasteleijn, E, Lee, AS, Barry, BJ, Chao, KR, Szczaluba, K, Kobori, J, Hanson-Kahn, A, Bernstein, JA, Carr, L, D'Arco, F, Miyana, K, Okazaki, T, Saito, Y, Sasaki, M, Das, S, Wheeler, MM, Bamshad, MJ, Nickerson, DA, Engle, EC, Verheijen, Frans, Doherty, D, Verheijen - Mancini, Grazia

المصدر: Dobyns , WB , Aldinger , KA , Ishak , G E , Mirzaa , GM , Timms , AE , Grout , ME , Dremmen , M , Schot , R , Vandervore , L , van Slegtenhorst , M , Wilke , M , Kasteleijn , E , Lee , AS , Barry , BJ , Chao , KR , Szczaluba , K , Kobori , J , Hanson-Kahn , A , Bernstein , JA , Carr , L , D'Arco , F , Miyana , K , Okazaki , T , Saito , Y , Sasaki ....

مصطلحات موضوعية: /dk/atira/pure/keywords/researchprograms/AFL001000/EMCNIHES033002, name=EMC NIHES-03-30-02

الاتاحة: https://pure.eur.nl/en/publications/21f04098-9539-42c6-a0aa-d31198a286af
https://doi.org/10.1016/j.ajhg.2018.10.019
http://hdl.handle.net/1765/113383

المؤلفون: Garavelli, L, Ivanovski, I, Caraffi, SG, Santodirocco, D, Pollazzon, M, Cordelli, DM, Abdalla, E, Accorsi, P, Adam, MP, Ajmone, P, Badura-Stronka, M, Baldo, C, Bayat, A, Belligni, E, Bigoni, S, Bonvicini, F, Breckpot, Jeroen, Callewaert, B, Gocchi, G, Cuturilo, G, De Brasi, D, Devriendt, Koenraad, Dinulos, MB, Djuric, O, Duelund HJortshoj, T, Epifanio, R, Faravelli, F, Fiumara, A, Formisano, D, Giordano, L, Grasso, M, Gronborg, S, Iodice, A, Iughetti, L, Kuburovic, V, Kutkowska-Kazmierczak, A, Lacombe, D, Lo Rizzo, C, Luchetti, A, Malbora, B, Mammi, I, Mari, F, Moutton, S, Moller, R, Muschke, P, Obersztyn, E, Pantaleoni, C, Pellicciari, A, Pisanti, MA, Poch Olive, ML, Raviglione, F, Rivieri, F, Savasta, S, Scarano, G, Schanze, I, Selicorni, A, Silengo, M, Smigiel, R, Spaccini, L, Sorge, G, Szczaluba, K, Tarani, L, Gonzaga Tone, L, Toutain, A, Trimouille, A, Terci Valera, E, Schrier Vergano, S, Zanotta, N, Zenker, M, Zollino, M, Zweieer, C, Dobyns, WB, Paciorkowski, AR

Relation: Genetic Counseling vol:27 issue:4 pages:550-553; Twenty-seventh European meeting on Dysmorphology location:Strasbourg, France date:7-9 September 2016; https://lirias.kuleuven.be/handle/123456789/560172

الاتاحة: https://lirias.kuleuven.be/handle/123456789/560172

المؤلفون: Szczałuba, K., Szymańska, K., Rydzanicz, M., Ciara, E., Walczak, A., Piekutowska‐Abramczuk, D., Kosińska, J., Jacoszek, A., Czerska, K., Biernacka, A., Laure‐Kamionowska, M., Gasperowicz, P., Pronicka, E., Płoski, R.

المساهمون: National Science Centre (NCN) Poland

المصدر: Clinical Genetics ; volume 93, issue 5, page 1107-1108 ; ISSN 0009-9163 1399-0004

الاتاحة: http://dx.doi.org/10.1111/cge.13133
https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1111%2Fcge.13133
https://onlinelibrary.wiley.com/doi/pdf/10.1111/cge.13133

المؤلفون: Szczałuba, K, Obersztyn, E, Nowakowska, B, Bernaciak, J, Fisher, C, Gibbons, R, Mazurczak, T, Bocian, E

مصطلحات موضوعية: congenital, hereditary, and neonatal diseases and abnormalities

URL الوصول: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::eb62488832cf0fd3cdc83d6d1c685668
https://ora.ox.ac.uk/objects/uuid:f617cec9-cd95-4077-a36c-946f1ff7d98d

المؤلفون: Palada V., Stiern S., Glöckle N., Gómez Garre P., Carrillo F., Mir P., Szczaluba K., Ajena D., Romani M., Valente E. M., Müller U., Bauer P., Riess O., Ott T., Grundmann K., TINAZZI, Michele

المساهمون: Palada, V., Stiern, S., Glöckle, N., Gómez Garre, P., Carrillo, F., Mir, P., Szczaluba, K., Tinazzi, Michele, Ajena, D., Romani, M., Valente, E. M., Müller, U., Bauer, P., Riess, O., Ott, T., Grundmann, K.

مصطلحات موضوعية: dystonia, DYT1 patient, THAP1 gene, TOR1A gene

وصف الملف: STAMPA

Relation: info:eu-repo/semantics/altIdentifier/pmid/22508326; info:eu-repo/semantics/altIdentifier/wos/WOS:000305581900020; ispartofbook:Movement disorders : official journal of the Movement Disorder Society; volume:27; issue:7; firstpage:917; lastpage:918; numberofpages:2; journal:MOVEMENT DISORDERS; http://hdl.handle.net/11562/405737; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84862665028

الاتاحة: http://hdl.handle.net/11562/405737
https://doi.org/10.1002/mds.24974

المؤلفون: Palada V, Stirn S, Glöckle N, Gómez Garre P, Carrillo F, Mir P, Szczaluba K, Tinazzi M, Ajena D, Romani M, Müller U, Riess O, Ott T, Grundmann K., VALENTE, Enza Maria

المساهمون: Palada, V, Stirn, S, Glöckle, N, Gómez Garre, P, Carrillo, F, Mir, P, Szczaluba, K, Tinazzi, M, Ajena, D, Romani, M, Valente, Enza Maria, Müller, U, Riess, O, Ott, T, Grundmann, K.

Relation: volume:27; issue:7; firstpage:917; lastpage:917; journal:MOVEMENT DISORDERS; http://hdl.handle.net/11570/2366028

الاتاحة: http://hdl.handle.net/11570/2366028

المؤلفون: MARINI M., BOCCIARDI R., GIMELLI S., DI DUCA M., DIVIZIA M. T., BABAN A., GASPAR H., MAMMI I., GARAVELLI L., CERONE R., EMMA F., BEDESCHI M. F., TENCONI R., SENSI A., SALMAGGI A., BENGALA M., MARI F., COLUSSI G., SZCZALUBA K., ANTONARAKIS S. E., SERI M., LERONE M., RAVAZZOLO R.

المساهمون: Marini, M., Bocciardi, R., Gimelli, S., DI DUCA, M., Divizia, M. T., Baban, A., Gaspar, H., Mammi, I., Garavelli, L., Cerone, R., Emma, F., Bedeschi, M. F., Tenconi, R., Sensi, A., Salmaggi, A., Bengala, M., Mari, F., Colussi, G., Szczaluba, K., Antonarakis, S. E., Seri, M., Lerone, M., Ravazzolo, R.

مصطلحات موضوعية: deletion, LMX1B gene, mosaicism, mutation, Nail-Patella syndrome

وصف الملف: STAMPA

Relation: info:eu-repo/semantics/altIdentifier/pmid/20531206; info:eu-repo/semantics/altIdentifier/wos/WOS:000279891300006; volume:12; issue:7; firstpage:431; lastpage:439; numberofpages:9; journal:GENETICS IN MEDICINE; http://hdl.handle.net/11365/38342; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-77955172760; https://www.sciencedirect.com/science/article/pii/S1098360021015719?via=ihub

الاتاحة: http://hdl.handle.net/11365/38342
https://doi.org/10.1097/GIM.0b013e3181e21afa
https://www.sciencedirect.com/science/article/pii/S1098360021015719?via=ihub

المؤلفون: Obersztyn, E., Nawara, M., Smyk, M., Nowakowska, B., Szczaluba, K., Stankiewicz, P., Chilarska, T., Bocian, E., Bal, J., Mazurczak, T.

المصدر: European Journal of Paediatric Neurology ; volume 12, page S46 ; ISSN 1090-3798

الاتاحة: http://dx.doi.org/10.1016/s1090-3798(08)70151-x
https://api.elsevier.com/content/article/PII:S109037980870151X?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S109037980870151X?httpAccept=text/plain

المؤلفون: Obersztyn, E., Szczaluba, K., Smyk, M., Ryniewicz, B., Fidzianska, A., Nowakowska, B., Stankiewicz, P., Bocian, E., Mazurczak, T.

المصدر: European Journal of Paediatric Neurology ; volume 12, page S54-S55 ; ISSN 1090-3798

الاتاحة: http://dx.doi.org/10.1016/s1090-3798(08)70182-x
https://api.elsevier.com/content/article/PII:S109037980870182X?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S109037980870182X?httpAccept=text/plain

المؤلفون: Szczaluba, K., Jurek, M., Szczepanik, E.

المصدر: European Journal of Paediatric Neurology ; volume 12, page S50 ; ISSN 1090-3798

الاتاحة: http://dx.doi.org/10.1016/s1090-3798(08)70165-x
https://api.elsevier.com/content/article/PII:S109037980870165X?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S109037980870165X?httpAccept=text/plain

المؤلفون: Szczaluba, K., Jurek, M., Milewski, M., Friedman, A., Kadziolka, B., Szolna, A., Bal, J., Mazurczak, T.

المصدر: European Journal of Neurology ; volume 14, issue 6, page 659-662 ; ISSN 1351-5101 1468-1331

الاتاحة: http://dx.doi.org/10.1111/j.1468-1331.2007.01811.x
https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1111%2Fj.1468-1331.2007.01811.x
https://onlinelibrary.wiley.com/doi/pdf/10.1111/j.1468-1331.2007.01811.x

المؤلفون: Szczaluba, K., Nawara, M., Poirier, K., Pilch, J., Gajdulewicz, M., Spodar, K., Chelly, J., Bal, J., Mazurczak, T.

المصدر: Neurology ; volume 67, issue 11, page 2073-2075 ; ISSN 0028-3878 1526-632X

الاتاحة: http://dx.doi.org/10.1212/01.wnl.0000247833.29314.5b
https://www.neurology.org/doi/pdfdirect/10.1212/01.wnl.0000247833.29314.5b

المؤلفون: Szczaluba, K., Hilbert, K., Obersztyn, E., Zabel, B., Mazurczak, T., Kozlowski, K.

المصدر: American Journal of Medical Genetics Part A ; volume 138A, issue 4, page 379-383 ; ISSN 1552-4825 1552-4833

الاتاحة: http://dx.doi.org/10.1002/ajmg.a.30969
https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1002%2Fajmg.a.30969
https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.30969

المؤلفون: Szczałuba, K., Rydzanicz, M., Walczak, A., Kosińska, J., Jacoszek, A., Biernacka, A., Gasperowicz, P., Płoski, R., Szymańska, K., Ciara, E., Piekutowska‐Abramczuk, D., Pronicka, E., Czerska, K., Laure‐Kamionowska, M.

المصدر: Clinical Genetics; May2018, Vol. 93 Issue 5, p1107-1108, 3p, 1 Graph

مصطلحات موضوعية: GENETIC mutation, PARKINSONIAN disorders, DOPA, CARBIDOPA, THERAPEUTICS