المؤلفون: Stenton, SL, Tesarova, M, Sheremet, NL, Catarino, C, Carelli, V, Ciara, E, Curry, K, Engvall, M, Fleming, LR, Freisinger, P, Iwanicka-Pronicka, K, Jurkiewicz, E, Klopstock, T, Koenig, MK, Kolarova, H, Kousal, B, Krylova, T, La Morgia, C, Noskova, L, Piekutowska-Abramczuk, D, Russo, SN, Stranecky, V, Tothova, I, Traisk, F, Prokisch, H

المصدر: Brain : a journal of neurology. 145(5):1624-1631

مصطلحات موضوعية: Medicin och hälsovetenskap

URL الوصول: http://kipublications.ki.se/Default.aspx?queryparsed=id:149431720

المؤلفون: Vogel GF, Mozer-Glassberg Y, Landau YE, Schlieben LD, Prokisch H, Feichtinger RG, Mayr JA, Brennenstuhl H, Schroter J, Pechlaner A, Alkuraya FS, Baker JJ, Barcia G, Baric I, Braverman N, Burnyte B, Christodoulou J, Ciara E, Coman D, Das AM, Darin N, Della Marina A, Distelmaier F, Eklund EA, Ersoy M, Fang W, Gaignard P, Ganetzky RD, Gonzales E, Howard C, Hughes J, Konstantopoulou V, Kose M, Kerr M, Khan A, Lenz D, McFarland R, Margolis MG, Morrison K, Muller T, Murayama K, Nicastro E, Pennisi A, Peters H, Piekutowska-Abramczuk D, Rotig A, Santer R, Scaglia F, Schiff M, Shagrani M, Sharrard M, Soler-Alfonso C, Staufner C, Storey I, Stormon M, Taylor RW, Thorburn DR, Teles EL, Wang J-S, Weghuber D, Wortmann S

المصدر: Genetics in Medicine, 2022

وصف الملف: application/pdf

Relation: https://eprints.ncl.ac.uk/287630; https://eprints.ncl.ac.uk/fulltext.aspx?url=287630/7E762CC3-7D5E-4030-91E6-BEF452582F45.pdf&pub_id=287630

الاتاحة: https://eprints.ncl.ac.uk/287630

المؤلفون: Yepez VA, Gusic M, Kopajtich R, Mertes C, Smith NH, Alston CL, Ban R, Beblo S, Berutti R, Blessing H, Ciara E, Distelmaier F, Freisinger P, Haberle J, Hayflick SJ, Hempel M, Itkis YS, Kishita Y, Klopstock T, Krylova TD, Lamperti C, Lenz D, Makowski C, Mosegaard S, Muller MF, Munoz-Pujol G, Nadel A, Ohtake A, Okazaki Y, Procopio E, Schwarzmayr T, Smet J, Staufner C, Stenton SL, Strom TM, Terrile C, Tort F, Van Coster R, Vanlander A, Wagner M, Xu M, Fang F, Ghezzi D, Mayr JA, Piekutowska-Abramczuk D, Ribes A, Rotig A, Taylor RW, Wortmann SB, Murayama K, Meitinger T, Gagneur J, Prokisch H

المصدر: Genome Medicine, December 2022

وصف الملف: application/pdf

Relation: https://eprints.ncl.ac.uk/281451; https://eprints.ncl.ac.uk/fulltext.aspx?url=281451/E0F4E944-FA3B-40CE-AB99-721F4558D1AE.pdf&pub_id=281451

الاتاحة: https://eprints.ncl.ac.uk/281451

المؤلفون: Yepez V. A., Gusic M., Kopajtich R., Mertes C., Smith N. H., Alston C. L., Ban R., Beblo S., Berutti R., Blessing H., Ciara E., Distelmaier F., Freisinger P., Haberle J., Hayflick S. J., Hempel M., Itkis Y. S., Kishita Y., Klopstock T., Krylova T. D., Lamperti C., Lenz D., Makowski C., Mosegaard S., Muller M. F., Munoz-Pujol G., Nadel A., Ohtake A., Okazaki Y., Procopio E., Schwarzmayr T., Smet J., Staufner C., Stenton S. L., Strom T. M., Terrile C., Tort F., Van Coster R., Vanlander A., Wagner M., Xu M., Fang F., Ghezzi D., Mayr J. A., Piekutowska-Abramczuk D., Ribes A., Rotig A., Taylor R. W., Wortmann S. B., Murayama K., Meitinger T., Gagneur J., Prokisch H.

المساهمون: V.A. Yepez, M. Gusic, R. Kopajtich, C. Merte, N.H. Smith, C.L. Alston, R. Ban, S. Beblo, R. Berutti, H. Blessing, E. Ciara, F. Distelmaier, P. Freisinger, J. Haberle, S.J. Hayflick, M. Hempel, Y.S. Itki, Y. Kishita, T. Klopstock, T.D. Krylova, C. Lamperti, D. Lenz, C. Makowski, S. Mosegaard, M.F. Muller, G. Munoz-Pujol, A. Nadel, A. Ohtake, Y. Okazaki, E. Procopio, T. Schwarzmayr, J. Smet, C. Staufner, S.L. Stenton, T.M. Strom, C. Terrile, F. Tort, R. Van Coster, A. Vanlander, M. Wagner, M. Xu, F. Fang, D. Ghezzi, J.A. Mayr, D. Piekutowska-Abramczuk, A. Ribe, A. Rotig, R.W. Taylor, S.B. Wortmann, K. Murayama, T. Meitinger, J. Gagneur, H. Prokisch

مصطلحات موضوعية: Genetic diagnostic, Mendelian disease, RNA-seq, Allele, Human, Sequence Analysis, RNA, Whole Exome Sequencing, Transcriptome, Settore MED/03 - Genetica Medica, Settore BIO/11 - Biologia Molecolare

Relation: info:eu-repo/semantics/altIdentifier/pmid/35379322; info:eu-repo/semantics/altIdentifier/wos/WOS:000778002100001; volume:14; issue:1; firstpage:1; lastpage:26; numberofpages:26; journal:GENOME MEDICINE; https://hdl.handle.net/2434/926220; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85127470335

الاتاحة: https://hdl.handle.net/2434/926220
https://doi.org/10.1186/s13073-022-01019-9

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

الاتاحة: https://cris.maastrichtuniversity.nl/en/publications/4a65fa63-9e65-4f68-9186-ac4e7e5c9167
https://doi.org/10.1002/humu.24326

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/

الاتاحة: 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/

المؤلفون: Lenz D, Schlieben LD, Shimura M, Bianzano A, Smirnov D, Kopajtich R, Berutti R, Adam R, Aldrian D, Baric I, Baumann U, Bozbulut NE, Brugger M, Brunet T, Bufler P, Burnyte B, Calvo PL, Crushell E, Dalgic B, Das AM, Dezsofi A, Distelmaier F, Fichtner A, Freisinger P, Garbade SF, Gaspar H, Goujon L, Hadzic N, Hartleif S, Hegen B, Hempel M, Henning S, Hoerning A, Houwen R, Hughes J, Iorio R, Iwanicka-Pronicka K, Jankofsky M, Junge N, Kanavaki I, Kansu A, Kaspar S, Kathemann S, Kelly D, Kirsaclioglu CT, Knoppke B, Kohl M, Kolbel H, Kolker S, Konstantopoulou V, Krylova T, Kuloglu Z, Kuster A, Laass MW, Lainka E, Lurz E, Mandel H, Mayerhanser K, Mayr JA, McKiernan P, McClean P, McLin V, Mention K, Muller H, Pasquier L, Pavlov M, Pechatnikova N, Peters B, Petkovic Ramadza D, Piekutowska-Abramczuk D, Pilic D, Rajwal S, Rock N, Roetig A, Santer R, Schenk W, Semenova N, Sokollik C, Sturm E, Taylor RW, Tschiedel E, Urbonas V, Urreizti R, Vermehren J, Vockley J, Vogel G-F, Wagner M, Van Der Woerd W, Wortmann SB, Zakharova E, Hoffmann GF, Meitinger T, Murayama K, Staufner C, Prokisch H

المصدر: Hepatology, May 2024

Relation: https://eprints.ncl.ac.uk/298135

الاتاحة: https://eprints.ncl.ac.uk/298135

المؤلفون: Stenton, S., Piekutowska-Abramczuk, D., Kulterer, L., Kopajtich, R., Claeys, K.G., Ciara, E., Eisen, J., Płoski, R., Pronicka, E., Malczyk, K., Wagner, M., Wortmann, S.B., Prokisch, H.

المصدر: Hum. Mutat. 42, 310-319 (2021)

مصطلحات موضوعية: Functional Validation, Leigh Syndrome, Mitochondrial Disease, Phenotype, Variant Of Uncertain Significance

وصف الملف: application/pdf

Relation: info:eu-repo/semantics/altIdentifier/pmid/33348459; info:eu-repo/semantics/altIdentifier/wos/WOS:000604115700001; info:eu-repo/semantics/altIdentifier/isbn/1059-7794; info:eu-repo/semantics/altIden; https://push-zb.helmholtz-muenchen.de/frontdoor.php?source_opus=60970; urn:isbn:1059-7794; urn:issn:1059-7794; urn:issn:1098-1004

الاتاحة: https://push-zb.helmholtz-muenchen.de/frontdoor.php?source_opus=60970
https://doi.org/10.1002/humu.24160

المؤلفون: Vogel, G.F., Mozer-Glassberg, Y., Landau, Y.E., Schlieben, L.D., Prokisch, H., Feichtinger, R.G., Mayr, J.A., Brennenstuhl, H., Schröter, J., Pechlaner, A., Alkuraya, F.S., Baker, J.J., Barcia, G., Baric, I., Braverman, N., Burnyte, B., Christodoulou, J., Ciara, E., Coman, D., Das, A.M., Darin, N., Marina, A. Della, Distelmaier, F., Eklund, E.A., Ersoy, M., Fang, W., Gaignard, P., Ganetzky, R.D., Gonzales, E., Howard, C., Hughes, J., Konstantopoulou, V., Kose, M., Kerr, M., Khan, A., Lenz, D., McFarland, R., Margolis, M.G., Morrison, K., Müller, T., Murayama, K., Nicastro, E., Pennisi, A., Peters, Heidi, Piekutowska-Abramczuk, D., Rötig, A., Santer, R., Scaglia, F., Schiff, M., Shagrani, M., Sharrard, M., Soler-Alfonso, C., Staufner, C., Storey, I., Stormon, M., Taylor, R.W., Thorburn, D.R., Teles, E.L., Wang, J.S., Weghuber, D., Wortmann, S.B.

المصدر: Genetics in Medicine; 1098-3600; 6; 25; 100314; ~Genetics in Medicine~~~~~1098-3600~6~25~~100314

URL: https://repository.ubn.ru.nl/handle/2066/293495

المؤلفون: Hayhurst H, de Coo IFM, Piekutowska-Abramczuk D, Alston CL, Sharma S, Thompson K, Rius R, He L, Hopton S, Ploski R, Ciara E, Lake NJ, Compton AG, Delatycki MB, Verrips A, Bonnen PE, Jones SA, Morris AA, Shakespeare D, Christodoulou J, Wesol-Kucharska D, Rokicki D, Smeets HJM, Pronicka E, Thorburn DR, Gorman GS, McFarland R, Taylor RW, Ng YS

المصدر: Annals of Clinical and Translational Neurology, March 2019

وصف الملف: application/pdf

Relation: https://eprints.ncl.ac.uk/256111; https://eprints.ncl.ac.uk/fulltext.aspx?url=256111/8D0290AB-E61B-4E00-9012-392ACDBED54B.pdf&pub_id=256111

الاتاحة: https://eprints.ncl.ac.uk/256111

المؤلفون: Hayhurst, H, de Coo, IFM, Piekutowska-Abramczuk, D, Alston, CL, Sharma, S, Thompson, K, Rius, R, He, L, Hopton, S, Ploski, R, Ciara, E, Lake, NJ, Compton, AG, Delatycki, MB, Verrips, A, Bonnen, PE, Jones, SA, Morris, AA, Shakespeare, D, Christodoulou, J, Wesol-Kucharska, D, Rokicki, D, Smeets, HJM, Pronicka, E, Thorburn, DR, Gorman, GS, McFarland, R, Taylor, RW, Ng, YS

Relation: pii: ACN3780; Hayhurst, H., de Coo, I. F. M., Piekutowska-Abramczuk, D., Alston, C. L., Sharma, S., Thompson, K., Rius, R., He, L., Hopton, S., Ploski, R., Ciara, E., Lake, N. J., Compton, A. G., Delatycki, M. B., Verrips, A., Bonnen, P. E., Jones, S. A., Morris, A. A., Shakespeare, D. ,. Ng, Y. S. (2019). Leigh syndrome caused by mutations in MTFMT is associated with a better prognosis (vol 6, pg 515, 2019). ANNALS OF CLINICAL AND TRANSLATIONAL NEUROLOGY, 6 (4), pp.821-821. https://doi.org/10.1002/acn3.780.; http://hdl.handle.net/11343/271489

الاتاحة: http://hdl.handle.net/11343/271489

المؤلفون: Lenz, D., Schlieben, L.D., Shimura, M., Bianzano, A., Smirnov, D., Kopajtich, R., Berutti, R., Adam, R., Aldrian, D., Baric, I., Baumann, U., Bozbulut, N.E., Brugger, M., Brunet, T., Bufler, P., Burnyte, B., Calvo, P.L., Crushell, E., Dalgıç, B., Das, A.M., Dezsőfi, A., Distelmaier, F., Fichtner, A., Freisinger, P., Garbade, S.F., Gaspar, H., Goujon, L., Hadzic, N., Hartleif, S., Hegen, B., Hempel, M., Henning, S., Hoerning, A., Houwen, R., Hughes, J., Iorio, R., Iwanicka-Pronicka, K., Jankofsky, M., Junge, N., Kanavaki, I., Kansu, A., Kaspar, S., Kathemann, S., Kelly, D., Kırsaçlıoğlu, C.T., Knoppke, B., Kohl, M., Kölbel, H., Kolker, S., Konstantopoulou, V., Krylova, T., Kuloglu, Z., Kuster, A., Laass, M.W., Lainka, E., Lurz, E., Mandel, H., Mayerhanser, K., Mayr, J.A., McKiernan, P., McLean, P., McLin, V., Mention, K., Müller, H., Pasquier, L., Pavlov, M., Pechatnikova, N., Peters, B., Petkovic Ramadža, D., Piekutowska-Abramczuk, D., Pilic, D., Rajwal, S., Rock, N., Roetig, A., Santer, R., Schenk, W., Semenova, N., Sokollik, C., Sturm, E., Taylor, R.W., Tschiedel, E., Urbonas, V., Urreizti, R., Vermehren, J., Vockley, J., Vogel, G.F., Wagner, M., van der Woerd, W., Wortmann, S., Zakharova, E., Hoffmann, G.F., Meitinger, T., Murayama, K., Staufner, C., Prokisch, H.

المصدر: Hepatology 79, 1075-1087 (2023)

Relation: info:eu-repo/semantics/altIdentifier/pmid/37976411; info:eu-repo/semantics/altIdentifier/isbn/0270-9139; info:eu-repo/semantics/altIdentifier/pissn/0270-9139; info:eu-repo/semantics/altId

الاتاحة: https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=68766
https://doi.org/10.1097/HEP.0000000000000684

المؤلفون: Piekutowska-Abramczuk, D., Assouline, Z., Mataković, L., Feichtinger, R.G., Konarikova, E., Jurkiewicz, E., Stawiński, P., Gusic, M., Koller, A., Pollak, A., Gasperowicz, P., Trubicka, J., Ciara, E., Iwanicka-Pronicka, K., Rokicki, D., Hanein, S., Wortmann, S.B., Sperl, W., Rötig, A., Prokisch, H., Pronicka, E., Płoski, R., Barcia, G., Mayr, J.A.

المصدر: Am. J. Hum. Genet. 102, 460-467 (2018)

مصطلحات موضوعية: Complex I, Lactic Acidosis, Leigh Syndrome, Mitochondria, Nadh Dehydrogenase, Oxidative Phosphorylation, Respiratory Chain

وصف الملف: application/pdf

Relation: info:eu-repo/semantics/altIdentifier/pmid/29429571; info:eu-repo/semantics/altIdentifier/wos/WOS:000426469600016; info:eu-repo/semantics/altIdentifier/isbn/0002-9297; info:eu-repo/semantics; https://push-zb.helmholtz-muenchen.de/frontdoor.php?source_opus=52941; urn:isbn:0002-9297; urn:issn:0002-9297; urn:issn:1537-6605

الاتاحة: https://push-zb.helmholtz-muenchen.de/frontdoor.php?source_opus=52941
https://doi.org/10.1016/j.ajhg.2018.01.008

المؤلفون: Yépez, V.A., Gusic, M., Kopajtich, R., Mertes, C., Smith, N.H., Alston, C.L., Ban, R., Beblo, S., Berutti, R., Blessing, H., Ciara, E., Distelmaier, F., Freisinger, P., Häberle, J., Hayflick, S.J., Hempel, M., Itkis, Y.S., Kishita, Y., Klopstock, T., Krylova, T.D., Lamperti, C., Lenz, D., Makowski, C., Mosegaard, S., Müller, M.F., Muñoz-Pujol, G., Nadel, A., Ohtake, A., Okazaki, Y., Procopio, E., Schwarzmayr, T., Smet, J., Staufner, C., Stenton, S.L., Strom, T.M., Terrile, C., Tort, F., Coster, R. van, Vanlander, A., Wagner, M., Xu, M., Fang, F., Ghezzi, D., Mayr, J.A., Piekutowska-Abramczuk, D., Ribes, A., Rötig, A., Taylor, R.W., Wortmann, S.B., Murayama, K., Meitinger, T., Gagneur, J., Prokisch, H.

المصدر: Genome Medicine; 1756-994X; 1; 14; 38; ~Genome Medicine~~~~~1756-994X~1~14~~38

URL: https://repository.ubn.ru.nl//bitstream/handle/2066/283137/283137.pdf
https://repository.ubn.ru.nl/handle/2066/283137
https://doi.org/10.1186/s13073-022-01019-9

المؤلفون: Kremer, L.S., Danhauser, K., Herebian, D., Petkovic Ramadža, D., Piekutowska-Abramczuk, D., Seibt, A., Müller-Felber, W., Haack, T.B., Płoski, R., Lohmeier, K., Schneider, D., Klee, D., Rokicki, D., Mayatepek, E., Strom, T.M., Meitinger, T., Klopstock, T., Pronicka, E., Mayr, J.A., Baric, I., Distelmaier, F., Prokisch, H.

المصدر: Am. J. Hum. Genet. 99, 894-902 (2016)

مصطلحات موضوعية: Nad(p)hx, Energy Metabolism, Metabolite Repair, Mitochondrial

وصف الملف: application/pdf

Relation: info:eu-repo/semantics/altIdentifier/pmid/27616477; info:eu-repo/semantics/altIdentifier/wos/WOS:000385333700009; info:eu-repo/semantics/altIdentifier/isbn/0002-9297; info:eu-repo/semantics; https://push-zb.helmholtz-muenchen.de/frontdoor.php?source_opus=49468; urn:isbn:0002-9297; urn:issn:0002-9297; urn:issn:1537-6605

الاتاحة: https://push-zb.helmholtz-muenchen.de/frontdoor.php?source_opus=49468
https://doi.org/10.1016/j.ajhg.2016.07.018

المؤلفون: Ciara, E., Rokicki, D., Halat, P., Karkucińska-Więckowska, A., Piekutowska-Abramczuk, D., Mayr, J., Trubicka, J., Szymańska-Dębińska, T., Pronicki, M., Pajdowska, M., Dudzińska, M., Giżewska, M., Krajewska-Walasek, M., Książyk, J., Sperl, W., Płoski, R., Pronicka, E.

المساهمون: CMHI, National Science Centre Harmonia 4, EU Structural Funds

المصدر: Molecular Genetics and Metabolism Reports ; volume 7, page 70-76 ; ISSN 2214-4269

الاتاحة: http://dx.doi.org/10.1016/j.ymgmr.2016.03.004
https://api.elsevier.com/content/article/PII:S2214426916300167?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S2214426916300167?httpAccept=text/plain

المؤلفون: Kopajtich, R., Smirnov, D., Loipfinger, S., Meng, C., Ghezzi, D., Murayama, K., Mayr, J. A., Freisinger, P., Metodiev, D., Rotig, A., Klopstock, T., Hoffmann, G. F., Santer, R., Distelmaier, F., Olsen, R., Piekutowska-Abramczuk, D., VERLOO, PATRICK, Lamperti, C., Gagneur, J., Ludwig, C., Prokisch, H.

المصدر: EUROPEAN JOURNAL OF HUMAN GENETICS ; ISSN: 1018-4813 ; ISSN: 1476-5438

Relation: https://biblio.ugent.be/publication/01JCJH1HY7QHT771HSB4KZVG4F

الاتاحة: https://biblio.ugent.be/publication/01JCJH1HY7QHT771HSB4KZVG4F
http://hdl.handle.net/1854/LU-01JCJH1HY7QHT771HSB4KZVG4F

المؤلفون: Piekutowska-Abramczuk, D., Tanska, A., Kowalski, P., Tonska, K., Ciara, E., Jurkiewicz, D., Borucka-Mankiewicz, M., Luczak, S., Pelc, M., Sykut-Cegielska, J., Krajewska-Walasek, M., Bartnik, E., Pronicka, E.

المصدر: Biochimica et Biophysica Acta (BBA) - Bioenergetics ; volume 1797, page 49-50 ; ISSN 0005-2728

الاتاحة: http://dx.doi.org/10.1016/j.bbabio.2010.04.163
https://api.elsevier.com/content/article/PII:S0005272810002963?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S0005272810002963?httpAccept=text/plain

المؤلفون: Pronicki, M, Matyja, E, Piekutowska-Abramczuk, D, Szymańska-Dębińska, T, Karkucińska-Więckowska, A, Karczmarewicz, E, Grajkowska, W, Kmieć, T, Popowska, E, Sykut-Cegielska, J

المصدر: Journal of Clinical Pathology ; volume 61, issue 4, page 460-466 ; ISSN 0021-9746 1472-4146

الاتاحة: http://dx.doi.org/10.1136/jcp.2007.051060
https://syndication.highwire.org/content/doi/10.1136/jcp.2007.051060

المؤلفون: Piekutowska-Abramczuk, D., Stenton, S., Gusic, M., Ciara, E., Wagner, M., Haack, T.B., Claeys, K.G., Schrod, L., Nava, C., Narayanan, V., Jurkiewicz, D., Halat-Wolska, P., Pelc, M., Chrzanowska, K., Ploski, R., Meitinger, T., Pronicki, M., Pronicka, E., Prokisch, H.

المصدر: Eur. J. Hum. Genet. 27, 172-173 (2019)

Relation: info:eu-repo/semantics/altIdentifier/wos/WOS:000489313101136; info:eu-repo/semantics/altIdentifier/isbn/1018-4813; info:eu-repo/semantics/altIdentifier/pissn/1018-4813; info:eu-repo/semantics/altIdentifier/eissn/1476-5438

الاتاحة: https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=57189