Skip to contents

  1. Abdullaev, F.Kh [Contributor]; Abdullaev, N. A [Contributor]; Agrawal, G. G [Contributor]; Albuquerque, E. L [Contributor]; Alieva, L. N [Contributor]; Almeida, N. S [Contributor]; Anastassakis, E [Contributor]; Aoyama, M [Contributor]; Atabekyan, R. R [Contributor]; Bandyopadhyay, S [Contributor]; Bansal, R. S [Contributor]; Bechstedt, F [Contributor]; Bhuniya, R. C [Contributor]; Bose, D. N [Contributor]; Caneppele, S [Contributor]; Canessa, E [Contributor]; Capozzi, V [Contributor]; Cardona, M [Contributor]; Castellani, N. J [Contributor]; Chaikovskii, I. A [Contributor]; Chakeaborty, S [Contributor]; Chashoo, G. J [Contributor]; Da Silva, F. W. O [Contributor]; Deb, S. K [Contributor]; [...]

    Physica status solidi : Volume 129, Number 1: May 1 - [Reprint 2021]

    Books
    View online
    Close

    Bookmarks

    You can manage bookmarks using lists, please log in to your user account for this.

    Berlin; Boston: De Gruyter, [2022] ; [Online-Ausgabe]

    Published in: Physica status solidi ; Volume 129, Number 1 ; B

  2. Abdullaeva, S. G [Contributor]; Ambrazevičius, G [Contributor]; Andronik, K. I [Contributor]; Antic-Fidancev, E [Contributor]; Arushanov, E [Contributor]; Asano, S [Contributor]; Babonas, G [Contributor]; Baier, V. N [Contributor]; Banar, V. F [Contributor]; Bansal, R. S [Contributor]; Bao, Tran Thoai Duy [Contributor]; Baryshevskii, V. G [Contributor]; Bashenov, V. K [Contributor]; Belevich, N. N [Contributor]; Blaise, M. Lemaitre [Contributor]; Brand, M. G. E [Contributor]; Bugaev, L. A [Contributor]; Buishvili, L. L [Contributor]; Carles, R [Contributor]; Chao, K. A [Contributor]; Chelidze, L. T [Contributor]; Chernyakova, A. P [Contributor]; Cianchi, L [Contributor]; Colocci, M [Contributor]; [...]

    Physica status solidi : Volume 133, Number 1: January 1 - [Reprint 2021]

    Books
    View online
    Close

    Bookmarks

    You can manage bookmarks using lists, please log in to your user account for this.

    Berlin; Boston: De Gruyter, [2022] ; [Online-Ausgabe]

    Published in: Physica status solidi ; Volume 133, Number 1 ; B

  3. Abdeest, A. M [Contributor]; Abdel-Gawad, M. M [Contributor]; Aly, A. A [Contributor]; Arnold, M [Contributor]; Bacewicz, R [Contributor]; Balagari, Prasanna K . J [Contributor]; Blinowski, J [Contributor]; Bosi, L [Contributor]; Brodskii, A. M [Contributor]; Bumeliene, S [Contributor]; Bussemer, P [Contributor]; Choudhary, S. N [Contributor]; Cofta, H [Contributor]; Collins, P.R [Contributor]; Cordts, W [Contributor]; Dabgys, A [Contributor]; Datsyuk, V . N [Contributor]; Diener, G [Contributor]; Dixon, J.M [Contributor]; Efros, A. L [Contributor]; Engelke, F [Contributor]; Ernazarova, L.A [Contributor]; Eränen, S [Contributor]; Fangqing, Zhang [Contributor]; [...]

    Physica status solidi : Volume 134, Number 1: March 1 - [Reprint 2021]

    Books
    View online
    Close

    Bookmarks

    You can manage bookmarks using lists, please log in to your user account for this.

    Berlin; Boston: De Gruyter, [2022] ; [Online-Ausgabe]

    Published in: Physica status solidi ; Volume 134, Number 1 ; B

  4. Godfrey, C.; Clement, E.; Mein, R.; Brockington, M.; Smith, J.; Talim, B.; Straub, V.; Robb, S.; Quinlivan, R.; Feng, L.; Jimenez-Mallebrera, C.; Mercuri, E.; Manzur, A. Y.; Kinali, M.; Torelli, S.; Brown, S. C.; Sewry, C. A.; Bushby, K.; Topaloglu, H.; North, K.; Abbs, S.; Muntoni, F.

    Refining genotype phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycan

    Articles
    View online
    Close

    Bookmarks

    You can manage bookmarks using lists, please log in to your user account for this.

    Oxford University Press (OUP), 2007

    Published in: Brain

  5. Durukan, T.; Önderoğlu, L.; Deren, Ö.; Saygan-Karamürsel, B.; Erdem, G.; Oram, O.; Gülsevin, M.; Yurdakök, S.; Özkutlu, S.; Çeliker, A.; Kale, G.; Çaglar, M.; Güçer, S.; Bulun, A.; Talim, B.; Büyükpamukçu, N.; Çiftçi, A.; Tunçbilek, E.; Balci, S.; Alanay, Y.

    Perinatal mortality rate – hospital based study during 1998–2001 at Hacettepe University

    Articles
    View online
    Close

    Bookmarks

    You can manage bookmarks using lists, please log in to your user account for this.

    Walter de Gruyter GmbH, 2003

    Published in: Journal of Perinatal Medicine

  6. Chauveau, C.; Bonnemann, C. G.; Julien, C.; Kho, A. L.; Marks, H.; Talim, B.; Maury, P.; Arne-Bes, M. C.; Uro-Coste, E.; Alexandrovich, A.; Vihola, A.; Schafer, S.; Kaufmann, B.; Medne, L.; Hubner, N.; Foley, A. R.; Santi, M.; Udd, B.; Topaloglu, H.; Moore, S. A.; Gotthardt, M.; Samuels, M. E.; Gautel, M.; Ferreiro, A.

    Recessive TTN truncating mutations define novel forms of core myopathy with heart disease

    Articles
    View online
    Close

    Bookmarks

    You can manage bookmarks using lists, please log in to your user account for this.

    Oxford University Press (OUP), 2014

    Published in: Human Molecular Genetics

  7. Taylor, Robert W.; Pyle, Angela; Griffin, Helen; Blakely, Emma L.; Duff, Jennifer; He, Langping; Smertenko, Tania; Alston, Charlotte L.; Neeve, Vivienne C.; Best, Andrew; Yarham, John W.; Kirschner, Janbernd; Schara, Ulrike; Talim, Beril; Topaloglu, Haluk; Baric, Ivo; Holinski-Feder, Elke; Abicht, Angela; Czermin, Birgit; Kleinle, Stephanie; Morris, Andrew A. M.; Vassallo, Grace; Gorman, Grainne S.; Ramesh, Venkateswaran; [...]

    Use of Whole-Exome Sequencing to Determine the Genetic Basis of Multiple Mitochondrial Respiratory Chain Complex Deficiencies

    Articles
    View online
    Close

    Bookmarks

    You can manage bookmarks using lists, please log in to your user account for this.

    American Medical Association (AMA), 2014

    Published in: JAMA

  8. Wong, Hui Hui; Seet, Sze Hwee; Maier, Michael; Gurel, Ayse; Traspas, Ricardo Moreno; Lee, Cheryl; Zhang, Shan; Talim, Beril; Loh, Abigail Y.T.; Chia, Crystal Y.; Teoh, Tze Shin; Sng, Danielle; Rensvold, Jarred; Unal, Sule; Shishkova, Evgenia; Cepni, Ece; Nathan, Fatima M.; Sirota, Fernanda L.; Liang, Chao; Yarali, Nese; Simsek-Kiper, Pelin O.; Mitani, Tadahiro; Ceylaner, Serdar; Arman-Bilir, Ozlem; [...]

    Loss of C2orf69 defines a fatal autoinflammatory syndrome in humans and zebrafish that evokes a glycogen-storage-associated mitochondriopathy

    Articles
    View online
    Close

    Bookmarks

    You can manage bookmarks using lists, please log in to your user account for this.

    Elsevier BV, 2021

    Published in: The American Journal of Human Genetics

  9. Wong, Hui Hui; Seet, Sze Hwee; Maier, Michael; Gurel, Ayse; Traspas, Ricardo Moreno; Lee, Cheryl; Zhang, Shan; Talim, Beril; Loh, Abigail Y.T.; Chia, Crystal Y.; Teoh, Tze Shin; Sng, Danielle; Rensvold, Jarred; Unal, Sule; Shishkova, Evgenia; Cepni, Ece; Nathan, Fatima M.; Sirota, Fernanda L.; Liang, Chao; Yarali, Nese; Simsek-Kiper, Pelin O.; Mitani, Tadahiro; Ceylaner, Serdar; Arman-Bilir, Ozlem; [...]

    Loss of C2orf69 defines a fatal autoinflammatory syndrome in humans and zebrafish that evokes a glycogen-storage-associated mitochondriopathy

    Articles
    View online
    Close

    Bookmarks

    You can manage bookmarks using lists, please log in to your user account for this.

    Elsevier BV, 2021

    Published in: The American Journal of Human Genetics

  10. Lomakina, Olga; Alekseeva, Ekaterina; Valieva, Sania; Bzarova, Tatiana; Nikishina, Irina; Zholobova, Elena; Rodionovskaya, Svetlana; Kaleda, Maria; Nakagishi, Yasuo; Shimizu, Masaki; Mizuta, Mao; Yachie, Akihiro; Sugita, Yuko; Okamoto, Nami; Shabana, Kousuke; Murata, Takuji; Tamai, Hiroshi; Smith, Eve M.; Yin, Peng; Jorgensen, Andrea L.; Beresford, Michael W.; Smith, Eve M.; Eleuteri, Antonio; Goilav, Beatrice; [...]

    Proceedings of the 23rd Paediatric Rheumatology European Society Congress: part two : Genoa, Italy. 28 September – 01 October 2016

    Articles
    View online
    Close

    Bookmarks

    You can manage bookmarks using lists, please log in to your user account for this.

    Springer Science and Business Media LLC, 2017

    Published in: Pediatric Rheumatology

  11. De Benedetti, F.; Anton, J.; Gattorno, M.; Lachmann, H.; Kone-Paut, I.; Ozen, S.; Frenkel, J.; Simon, A.; Zeft, A.; Ben-Chetrit, E.; Hoffman, H. M.; Joubert, Y.; Lheritier, K.; Speziale, A.; Guido, J.; Caorsi, Roberta; Penco, Federica; Grossi, Alice; Insalaco, Antonella; Alessio, Maria; Conti, Giovanni; Marchetti, Federico; Tommasini, Alberto; Martino, Silvana; [...]

    Proceedings of the 23rd Paediatric Rheumatology European Society Congress: part one : Genoa, Italy. 28 September–01 October 2016

    Articles
    View online
    Close

    Bookmarks

    You can manage bookmarks using lists, please log in to your user account for this.

    Springer Science and Business Media LLC, 2017

    Published in: Pediatric Rheumatology