المؤلفون: Xiong, Xing, Cesarato, Nicole, Gossmann, Yasmina, Wehner, Maria, Kumar, Sheetal, Thiele, Holger, Demuth, Stephanie, Oji, Vinzenz, Geyer, Matthias, Hamm, Henning, Basmanav, F Buket, Betz, Regina C

المصدر: British Journal of Dermatology; Dec2024, Vol. 191 Issue 6, p979-987, 9p

مصطلحات موضوعية: GENE expression, POLYMERASE chain reaction, HAPLOTYPES, GENETIC transcription, KERATIN

المؤلفون: Meyer, Robert, Begemann, Matthias, Hübner, Christian Thomas, Dey, Daniela, Kuechler, Alma, Elgizouli, Magdeldin, Schara, Ulrike, Ambrozaityte, Laima, Burnyte, Birute, Schröder, Carmen, Kenawy, Asmaa, Kroisel, Peter, Demuth, Stephanie, Fekete, Gyorgy, Opladen, Thomas, Elbracht, Miriam, Eggermann, Thomas

المصدر: http://lobid.org/resources/99370675069506441#!, 16(1):42.

مصطلحات موضوعية: Clinical genetics and genomics, Silver-Russell Syndrome/genetics [MeSH], Targeted multigene panel NGS, Diagnostic detection rate, Humans [MeSH], Molecular Diagnostic Techniques [MeSH], Whole Exome Sequencing [MeSH], Next generation sequencing, Silver–Russell syndrome, Silver-Russell Syndrome/diagnosis [MeSH], DNA Methylation [MeSH], Research, Uniparental Disomy [MeSH], Whole exome sequencing, Phenotype [MeSH]

Relation: https://repository.publisso.de/resource/frl:6463757; https://doi.org/10.1186/s13023-021-01683-x; https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7821667/

الاتاحة: https://repository.publisso.de/resource/frl:6463757
https://doi.org/10.1186/s13023-021-01683-x
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7821667/

المؤلفون: Lausberg, Eva, Gießelmann, Sebastian, Dewulf, Joseph P., Wiame, Elsa, Holz, Anja, Salvarinova, Ramona, van Karnebeek, Clara D., Klemm, Patricia, Ohl, Kim, Mull, Michael, Braunschweig, Till, Weis, Joachim, Sommer, Clemens J., Demuth, Stephanie, Haase, Claudia, Stollbrink-Peschgens, Claudia, Debray, François-Guillaume, Libioulle, Cecile, Choukair, Daniela, Oommen, Prasad T., Borkhardt, Arndt, Surowy, Harald, Wieczorek, Dagmar, Wagner, Norbert, Meyer, Robert, Eggermann, Thomas, Begemann, Matthias, Van Schaftingen, Emile, Häusler, Martin, Tenbrock, Klaus, van den Heuvel, Lambert, Elbracht, Miriam, Kurth, Ingo, Kraft, Florian

المساهمون: UCL - SSS/DDUV/BCHM - Biochimie-Recherche métabolique, UCL - (SLuc) Service de biochimie médicale

المصدر: The Journal of clinical investigation, Vol. 131, no. 12, p. e143078 [1-13] (2021)

Relation: boreal:249654; http://hdl.handle.net/2078.1/249654; info:pmid/; urn:ISSN:0021-9738; urn:EISSN:1558-8238

الاتاحة: http://hdl.handle.net/2078.1/249654
https://doi.org/10.1172/jci143078

المؤلفون: Traschütz, Andreas, Schirinzi, Tommaso, Laugwitz, Lucia, Murray, Nathan, Bingman, Craig, Reich, Selina, Kern, Jan, Heinzmann, Anna, Vasco, Gessica, Bertini, Enrico, Zanni, Ginevra, Durr, Alexandra, Magri, Stefania, Taroni, Franco, Malandrini, Alessandro, Baets, Jonathan, de Jonghe, Peter, de Ridder, Willem, Bereau, Matthieu, Demuth, Stephanie, Ganos, Christos, Basak, a Nazli, Hanagasi, Hasmet, Kurul, Semra Hiz, Bender, Benjamin, Schöls, Ludger, Grasshoff, Ute, Klopstock, Thomas, Horvath, Rita, van de Warrenburg, Bart, Burglen, Lydie, Rougeot, Christelle, Ewenczyk, Claire, Koenig, Michel, Santorelli, Filippo, Anheim, Mathieu, Munhoz, Renato, Haack, Tobias, Distelmaier, Felix, Pagliarini, David, Puccio, Hélène, Synofzik, Matthis

المساهمون: Eberhard Karls Universität Tübingen = University of Tübingen, German Research Center for Neurodegenerative Diseases - Deutsches Zentrum für Neurodegenerative Erkrankungen (DZNE), Università degli Studi di Roma Tor Vergata Roma, Italia = University of Rome Tor Vergata Rome, Italy = Université de Rome Tor Vergata Rome, Italie, IRCCS Ospedale Pediatrico Bambino Gesù = Bambino Gesù Children’s Hospital, University Children's Hospital of Tübingen, Partenaires INRAE, Morgridge Institute for Research Madison, University of Wisconsin-Madison, Sorbonne Université (SU), CHU Pitié-Salpêtrière AP-HP, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Institut du Cerveau = Paris Brain Institute (ICM), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Pitié-Salpêtrière AP-HP, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Sorbonne Université (SU)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), Fondazione IRCCS Istituto Neurologico "Carlo Besta", Università degli Studi di Siena = University of Siena (UNISI), University of Antwerp (UA), Antwerp University Hospital Edegem (UZA), Centre Hospitalier Régional Universitaire de Besançon (CHRU Besançon), Université de Franche-Comté (UFC), Université Bourgogne Franche-Comté COMUE (UBFC), Université de Genève = University of Geneva (UNIGE), Praxis für Humangenetik, Charité - UniversitätsMedizin = Berlin University Medicine, Koç University, Istanbul University, Dokuz Eylül Üniversitesi = Dokuz Eylül University Izmir (DEÜ), Ludwig Maximilian University Munich = Ludwig Maximilians Universität München (LMU), Munich Cluster for systems neurology Munich (SyNergy), Technische Universität Munchen - Technical University Munich - Université Technique de Munich (TUM)-Ludwig Maximilian University Munich = Ludwig Maximilians Universität München (LMU), University of Cambridge UK (CAM), Newcastle University Newcastle, Radboud University Medical Center Nijmegen (RadboudUMC), Imagine - Institut des maladies génétiques (IHU) (Imagine - U1163), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Cité (UPCité), CHU Trousseau APHP, Hôpital Femme Mère Enfant CHU - HCL (HFME), Hospices Civils de Lyon (HCL), Laboratoire de génétique des maladies rares. Pathologie moleculaire, etudes fonctionnelles et banque de données génétiques (LGMR), Université Montpellier 1 (UM1)-IFR3, Université Montpellier 1 (UM1)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Montpellier (UM), Centre Hospitalier Régional Universitaire Montpellier (CHRU Montpellier), Université de Montpellier (UM), IRCCS Fondazione Stella Maris Pisa, Les Hôpitaux Universitaires de Strasbourg (HUS), Hôpital de Hautepierre Strasbourg, Fédération de Médecine Translationnelle de Strasbourg (FMTS), Université de Strasbourg (UNISTRA), Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), Université de Strasbourg (UNISTRA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), University of Toronto, Heinrich Heine Universität Düsseldorf = Heinrich Heine University Düsseldorf, ANR-15-RAR3-0011,PREPARE,Preparing for therapies in autosomal recessive ataxias(2015)

المصدر: ISSN: 0364-5134.

مصطلحات موضوعية: [SDV]Life Sciences [q-bio]

Relation: info:eu-repo/semantics/altIdentifier/pmid/32337771; PUBMED: 32337771; PUBMEDCENTRAL: PMC7877690

الاتاحة: https://hal.science/hal-03616328
https://hal.science/hal-03616328v1/document
https://hal.science/hal-03616328v1/file/Annals%20of%20Neurology%20-%202020%20-%20Trasch%20tz%20-%20Clinico%25u2010Genetic%20Imaging%20and%20Molecular%20Delineation%20of%20COQ8A%25u2010Ataxia%20A%20Multicenter.pdf
https://doi.org/10.1002/ana.25751

المؤلفون: Traschuetz, Andreas, Schirinzi, Tommaso, Laugwitz, Lucia, Murray, Nathan H., Bingman, Craig A., Reich, Selina, Kern, Jan, Heinzmann, Anna, Vasco, Gessica, Bertini, Enrico, Zanni, Ginevra, Durr, Alexandra, Magri, Stefania, Taroni, Franco, Malandrini, Alessandro, Baets, Jonathan, De Jonghe, Peter, De Ridder, Willem, Bereau, Matthieu, Demuth, Stephanie, Ganos, Christos, Basak, A. Nazli, Hanagasi, Hasmet, Kurul, Semra Hiz, Bender, Benjamin, Schoels, Ludger, Grasshoff, Ute, Klopstock, Thomas, Horvath, Rita, van de Warrenburg, Bart, Burglen, Lydie, Rougeot, Christelle, Ewenczyk, Claire, Koenig, Michel, Santorelli, Filippo M., Anheim, Mathieu, Munhoz, Renato P., Haack, Tobias, Distelmaier, Felix, Pagliarini, David J., Puccio, Helene, Synofzik, Matthis

المصدر: 0364-5134 ; Annals of neurology

مصطلحات موضوعية: Human medicine

Relation: info:eu-repo/semantics/altIdentifier/isi/000539105500001

الاتاحة: https://hdl.handle.net/10067/1701980151162165141
https://repository.uantwerpen.be/docstore/d:irua:2138

المؤلفون: Meyer, Robert, Begemann, Matthias, Demuth, Stephanie, Kraft, Florian, Dey, Daniela, Schüler, Herdit, Busse, Sabine, Häusler, Martin, Zerres, Klaus, Kurth, Ingo, Eggermann, Thomas, Elbracht, Miriam

المساهمون: Deutsche Forschungsgemeinschaft

المصدر: Clinical Genetics ; volume 98, issue 4, page 408-412 ; ISSN 0009-9163 1399-0004

الاتاحة: http://dx.doi.org/10.1111/cge.13819
https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1111%2Fcge.13819
https://onlinelibrary.wiley.com/doi/pdf/10.1111/cge.13819
https://onlinelibrary.wiley.com/doi/full-xml/10.1111/cge.13819

المؤلفون: Bernstein, Ulrike, Demuth, Stephanie, Puk, Oliver, Eichhorn, Birgit, Schulz, Solveig

المصدر: Molecular Syndromology ; volume 10, issue 4, page 223-228 ; ISSN 1661-8769 1661-8777

الاتاحة: http://dx.doi.org/10.1159/000501183
https://www.karger.com/Article/Pdf/501183

المؤلفون: Martinelli, Simone, Krumbach, Oliver H.F., Pantaleoni, Francesca, Coppola, Simona, Amin, Ehsan, Pannone, Luca, Nouri, Kazem, Farina, Luciapia, Dvorsky, Radovan, Lepri, Francesca, Buchholzer, Marcel, Konopatzki, Raphael, Walsh, Laurence, Payne, Katelyn, Pierpont, Mary Ella, Vergano, Samantha Schrier, Langley, Katherine G., Larsen, Douglas, Farwell, Kelly D., Tang, Sha, Mroske, Cameron, Gallotta, Ivan, Di Schiavi, Elia, della Monica, Matteo, Lugli, Licia, Rossi, Cesare, Seri, Marco, Cocchi, Guido, Henderson, Lindsay, Baskin, Berivan, Alders, Mariëlle, Mendoza-Londono, Roberto, Dupuis, Lucie, Nickerson, Deborah A., Chong, Jessica X., Meeks, Naomi, Brown, Kathleen, Causey, Tahnee, Cho, Megan T., Demuth, Stephanie, Digilio, Maria Cristina, Gelb, Bruce D., Bamshad, Michael J., Zenker, Martin, Ahmadian, Mohammad Reza, Hennekam, Raoul C., Tartaglia, Marco, Mirzaa, Ghayda M.

المساهمون: National Institute of Neurological Disorders and Stroke (NINDS), Associazione Italiana per la Ricerca sul Cancro (AIRC), Fondazione Bambino Gesù (Vite Coraggiose, Italian Ministry of Health, E-Rare, International Research Training Group 1902 Intra- and Interorgan Communication of the Cardiovascular System, Medical Faculty of the Heinrich-Heine University Duesseldorf, National Human Genome Research Institute, National Heart, Lung, and Blood Institute, Eunice Kennedy Shriver National Institute of Child Health and Human Development, NIH Office of Research Infrastructure Programs

المصدر: The American Journal of Human Genetics ; volume 102, issue 2, page 309-320 ; ISSN 0002-9297

الاتاحة: http://dx.doi.org/10.1016/j.ajhg.2017.12.015
https://api.elsevier.com/content/article/PII:S0002929717305049?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S0002929717305049?httpAccept=text/plain

المؤلفون: Lausberg, Eva, Giesselmann, Sebastian, Braunschweig, Till, Weis, Joachim, Sommer, Clemens, Demuth, Stephanie, Haase, Claudia, Stollbrink-Peschgens, Claudia, Debray, Francois-Guillaume, Libioulle, Cecile, Choukair, Daniela, Oommen, Prasad T., Dewulf, Joseph P., Borkhardt, Arndt, Surowy, Harald, Wieczorek, Dagmar, Wagner, Norbert, Meyer, Robert, Eggermann, Thomas, Begemann, Matthias, Van Schaftingen, Emile, Haeusler, Martin, Tenbrock, Klaus, Wiame, Elsa, Van Den Heuvel, Lambert, Elbracht, Miriam, Kurth, Ingo, Kraft, Florian, Holz, Anja, Salvarinova, Ramona, Van Karnebeek, Clara, Klemm, Patricia, Ohl, Kim, Mull, Michael

المصدر: European journal of human genetics 30(Supplement 1), 86-87 (2022). doi:10.1172/JCI143078 special issue: "Abstracts from the 54th European Society of Human Genetics (ESHG) Conference" ; 54. European Society of Human Genetics Conference, ESHG 2021, online, 2021-08-28 - 2021-08-31

جغرافية الموضوع: DE

Relation: info:eu-repo/semantics/altIdentifier/wos/WOS:000779367700218; info:eu-repo/semantics/altIdentifier/issn/1018-4813; info:eu-repo/semantics/altIdentifier/issn/1476-5438; https://publications.rwth-aachen.de/record/945956; https://publications.rwth-aachen.de/search?p=id:%22RWTH-CONV-250909%22

الاتاحة: https://publications.rwth-aachen.de/record/945956
https://publications.rwth-aachen.de/search?p=id:%22RWTH-CONV-250909%22

المؤلفون: Li, Yun, Boegershausen, Nina, Alanay, Yasemin, Kiper, Pelin Ozlem Simsek, Plume, Nadine, Keupp, Katharina, Pohl, Esther, Pawlik, Barbara, Rachwalski, Martin, Milz, Esther, Thoenes, Michaela, Albrecht, Beate, Prott, Eva-Christina, Lehmkuehler, Margret, Demuth, Stephanie, Utine, Gulen Eda, Boduroglu, Koray, Frankenbusch, Katja, Borck, Guntram, Gillessen-Kaesbach, Gabriele, Yigit, Gökhan, Wieczorek, Dagmar, Wollnik, Bernd

المساهمون: Li, Yun, Boegershausen, Nina, Alanay, Yasemin, Kiper, Pelin Ozlem Simsek, Plume, Nadine, Keupp, Katharina, Pohl, Esther, Pawlik, Barbara, Rachwalski, Martin, Milz, Esther, Thoenes, Michaela, Albrecht, Beate, Prott, Eva-Christina, Lehmkuehler, Margret, Demuth, Stephanie, Utine, Gulen Eda, Boduroglu, Koray, Frankenbusch, Katja, Borck, Guntram, Gillessen-Kaesbach, Gabriele, Yigit, Gökhan, Wieczorek, Dagmar, Wollnik, Bernd

Relation: https://resolver.sub.uni-goettingen.de/purl?gro-2/49; 000297130600002; 3142624

الاتاحة: https://resolver.sub.uni-goettingen.de/purl?gro-2/49
https://doi.org/10.1007/s00439-011-1004-y

المؤلفون: Edler, Frederik, Miccoli, Ilio, Demuth, Stephanie, Pfnür, Herbert, Wippermann, S., Lücke, A., Schmidt, W.G., Tegenkamp, Christoph

المصدر: Physical Review B 92 (2015), Nr. 8

مصطلحات موضوعية: ddc:530

Relation: http://dx.doi.org/10.15488/1879; http://www.repo.uni-hannover.de/handle/123456789/1904

الاتاحة: http://www.repo.uni-hannover.de/handle/123456789/1904
https://doi.org/10.15488/1879

المؤلفون: Meyer, Robert, Begemann, Matthias, Hübner, Christian Thomas, Dey, Daniela, Kuechler, Alma, Magdeldin Elgizouli, Schara, Ulrike, Ambrozaityte, Laima, Birute Burnyte, Schröder, Carmen, Kenawy, Asmaa, Kroisel, Peter, Demuth, Stephanie, Gyorgy Fekete, Opladen, Thomas, Elbracht, Miriam, Eggermann, Thomas

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::89b7c1eaea9daba2a8e62a67a2f11209

المؤلفون: Meyer, Robert, Begemann, Matthias, Hübner, Christian Thomas, Dey, Daniela, Kuechler, Alma, Magdeldin Elgizouli, Schara, Ulrike, Ambrozaityte, Laima, Birute Burnyte, Schröder, Carmen, Kenawy, Asmaa, Kroisel, Peter, Demuth, Stephanie, Gyorgy Fekete, Opladen, Thomas, Elbracht, Miriam, Eggermann, Thomas

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::21c20eb58b67fabb6c59e8634a53fcea

المؤلفون: Meyer, Robert, Begemann, Matthias, Hübner, Christian Thomas, Dey, Daniela, Kuechler, Alma, Magdeldin Elgizouli, Schara, Ulrike, Ambrozaityte, Laima, Birute Burnyte, Schröder, Carmen, Kenawy, Asmaa, Kroisel, Peter, Demuth, Stephanie, Gyorgy Fekete, Opladen, Thomas, Elbracht, Miriam, Eggermann, Thomas

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::716fc5e97be8a90a589b3e23b63be7bf

المؤلفون: Meyer, Robert, Begemann, Matthias, Hübner, Christian Thomas, Dey, Daniela, Kuechler, Alma, Magdeldin Elgizouli, Schara, Ulrike, Ambrozaityte, Laima, Birute Burnyte, Schröder, Carmen, Kenawy, Asmaa, Kroisel, Peter, Demuth, Stephanie, Gyorgy Fekete, Opladen, Thomas, Elbracht, Miriam, Eggermann, Thomas

مصطلحات موضوعية: Data_FILES

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3e96e19801641710d6b23783c4037066

المؤلفون: Horn, Denise, Wieczorek, Dagmar, Metcalfe, Kay, Barić, Ivo, Paležac, Lidija, Ćuk, Mario, Petković Ramadža, Danijela, Krüger, Ulrike, Demuth, Stephanie, Heinritz, Wolfram, Linden, Tobias, Koenig, Jens, Robinson, Peter N, Krawitz, Peter

المصدر: European Journal of Human Genetics ; volume 22, issue 6, page 762-767 ; ISSN 1018-4813 1476-5438

الاتاحة: http://dx.doi.org/10.1038/ejhg.2013.241
http://www.nature.com/articles/ejhg2013241.pdf
http://www.nature.com/articles/ejhg2013241

المؤلفون: UCL - SSS/DDUV/BCHM - Biochimie-Recherche métabolique, UCL - (SLuc) Service de biochimie médicale, Lausberg, Eva, Gießelmann, Sebastian, Dewulf, Joseph P., Wiame, Elsa, Holz, Anja, Salvarinova, Ramona, van Karnebeek, Clara D., Klemm, Patricia, Ohl, Kim, Mull, Michael, Braunschweig, Till, Weis, Joachim, Sommer, Clemens J., Demuth, Stephanie, Haase, Claudia, Stollbrink-Peschgens, Claudia, Debray, François-Guillaume, Libioulle, Cecile, Choukair, Daniela, Oommen, Prasad T., Borkhardt, Arndt, Surowy, Harald, Wieczorek, Dagmar, Wagner, Norbert, Meyer, Robert, Eggermann, Thomas, Begemann, Matthias, Van Schaftingen, Emile, Häusler, Martin, Tenbrock, Klaus, van den Heuvel, Lambert, Elbracht, Miriam, Kurth, Ingo, Kraft, Florian

المصدر: Journal of Clinical Investigation, Vol. 131, no.12, p. 1-12 (2021)

مصطلحات الفهرس: info:eu-repo/semantics/article

URL: http://hdl.handle.net/2078.1/249654

المؤلفون: Horvath, Rita, Czermin, Birgit, Gulati, Sweena, Demuth, Stephanie, Houge, Gunnar, Pyle, Angela, Dineiger, Christine, Blakely, Emma L, Hassani, Adam, Foley, Charlotte, Brodhun, Michael, Storm, Karin, Kirschner, Janbernd, Gorman, Grainne S, Lochmüller, Hanns, Holinski-Feder, Elke, Taylor, Robert W, Chinnery, Patrick F

مصطلحات موضوعية: Movement disorders

وصف الملف: text/html

Relation: http://jnnp.bmj.com/cgi/content/short/83/2/174; http://dx.doi.org/10.1136/jnnp-2011-301258

الاتاحة: http://jnnp.bmj.com/cgi/content/short/83/2/174
https://doi.org/10.1136/jnnp-2011-301258

المؤلفون: Indrieri, Alessia, van Rahden, Vanessa Alexandra, Tiranti, Valeria, Morleo, Manuela, Iaconis, Daniela, Tammaro, Roberta, D’Amato, Ilaria, Conte, Ivan, Maystadt, Isabelle, Demuth, Stephanie, Zvulunov, Alex, Kutsche, Kerstin, Zeviani, Massimo, Franco, Brunella

المصدر: The American Journal of Human Genetics ; volume 91, issue 5, page 942-949 ; ISSN 0002-9297

الاتاحة: http://dx.doi.org/10.1016/j.ajhg.2012.09.016
https://api.elsevier.com/content/article/PII:S0002929712005241?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S0002929712005241?httpAccept=text/plain

المؤلفون: Başak, Ayşe Nazlı (ORCID 0000-0001-9257-3540 & YÖK ID 1512), Traschuetz, Andreas; Schirinzi, Tommaso; Laugwitz, Lucia; Murray, Nathan H.; Bingman, Craig A.; Reich, Selina; Kern, Jan; Heinzmann, Anna; Vasco, Gessica; Bertini, Enrico; Zanni, Ginevra; Durr, Alexandra; Magri, Stefania; Taroni, Franco; Malandrini, Alessandro; Baets, Jonathan; de Jonghe, Peter; de Ridder, Willem; Bereau, Matthieu; Demuth, Stephanie; Ganos, Christos; Hanagasi, Hasmet; Kurul, Semra Hız; Bender, Benjamin; Schoels, Ludger; Grasshoff, Ute; Klopstock, Thomas; Horvath, Rita; van de Warrenburg, Bart; Burglen, Lydie; Rougeot, Christelle; Ewenczyk, Claire; Koenig, Michel; Santorelli, Filippo M.; Anheim, Mathieu; Munhoz, Renato P.; Haack, Tobias; Distelmaier, Felix; Pagliarini, David J.; Puccio, Helene; Synofzik, Matthis, Koç University Research Center for Translational Medicine (KUTTAM) / Koç Üniversitesi Translasyonel Tıp Araştırma Merkezi (KUTTAM), School of Medicine

المصدر: Annals of Neurology

مصطلحات الفهرس: Medicine; Clinical neurology; Neurosciences, Coenzyme Q(10); Cerebellar-ataxia; Ubiquinone deficiency; Kinase; Mutations; ADCK3; Progression; Idebenone, Journal article, text/academic publication

URL: http://libdigitalcollections.ku.edu.tr/cdm/ref/collection/IR/id/8932
http://worldcat.org/oclc/1200731711/viewonline
Publisher version
Koç University Institutional Repository