Sortiert nach
Clinical genetics, 2018-02, Vol.93 (2), p.301-309
2018
Volltextzugriff (PDF)
Clinical genetics, 2015-07, Vol.88 (1), p.34-40
2015
Volltextzugriff (PDF)
Clinical genetics, 2017-01, Vol.91 (1), p.92-99
2017
Volltextzugriff (PDF)
American journal of medical genetics. Part A, 2024-06, p.e63789
2024
Volltextzugriff (PDF)
Clinical genetics, 2010-11, Vol.78 (5), p.424-431
2010
Volltextzugriff (PDF)
Pediatric research, 2000, Vol.47 (1), p.43-45
2000
Volltextzugriff (PDF)
MSTO1 mutations cause mtDNA depletion, manifesting as muscular dystrophy with cerebellar involvement
- Donkervoort, S.
- Sabouny, R.
- Yun, P.
- Gauquelin, L.
- Chao, K. R.
- Hu, Y.
- Al Khatib, I.
- Töpf, A.
- Mohassel, P.
- Cummings, B. B.
- Kaur, R.
- Saade, D.
- Moore, S. A.
- Waddell, L. B.
- Farrar, M. A.
- Goodrich, J. K.
- Uapinyoying, P.
- Chan, S.H. S.
- Javed, A.
- Leach, M. E.
- Karachunski, P.
- Dalton, J.
- Medne, L.
- Harper, A.
- Thompson, C.
- Thiffault, I.
- Specht, S.
- Lamont, R. E.
- Saunders, C.
- Racher, H.
- Bernier, F. P.
- Mowat, D.
- Witting, N.
- Vissing, J.
- Hanson, R.
- Coffman, K. A.
- Hainlen, M.
- Parboosingh, J. S.
- Carnevale, A.
- Yoon, G.
- Schnur, R. E.
- Boycott, K. M.
- Mah, J. K.
- Straub, V.
- Foley, A. Reghan
- Innes, A. M.
- Bönnemann, C. G.
- Shutt, T. E.
2019
Volltextzugriff (PDF)
Clinical genetics, 2017-09, Vol.92 (3), p.281-289
- Balci, T.B.
- Hartley, T.
- Xi, Y.
- Dyment, D.A.
- Beaulieu, C.L.
- Bernier, F.P.
- Dupuis, L.
- Horvath, G.A.
- Mendoza‐Londono, R.
- Prasad, C.
- Richer, J.
- Yang, X.‐R.
- Armour, C.M.
- Bareke, E.
- Fernandez, B.A.
- McMillan, H.J.
- Lamont, R.E.
- Majewski, J.
- Parboosingh, J.S.
- Prasad, A.N.
- Rupar, C.A.
- Schwartzentruber, J.
- Smith, A.C.
- Tétreault, M.
- Innes, A.M.
- Boycott, K.M.
2017
Volltextzugriff (PDF)
Molecular syndromology, 2012-04, Vol.2 (3-5), p.202-212
- Willemsen, M.H.
- Vulto-van Silfhout, A.T.
- Nillesen, W.M.
- Wissink-Lindhout, W.M.
- van Bokhoven, H.
- Philip, N.
- Berry-Kravis, E.M.
- Kini, U.
- van Ravenswaaij-Arts, C.M.A.
- Delle Chiaie, B.
- Innes, A.M.M.
- Houge, G.
- Kosonen, T.
- Cremer, K.
- Fannemel, M.
- Stray-Pedersen, A.
- Reardon, W.
- Ignatius, J.
- Lachlan, K.
- Mircher, C.
- Helderman van den Enden, P.T.J.M.
- Mastebroek, M.
- Cohn-Hokke, P.E.
- Yntema, H.G.
- Drunat, S.
- Kleefstra, T.
2012
Volltextzugriff (PDF)
Clinical otolaryngology, 2011-12, Vol.36 (6), p.575-578
2011
Volltextzugriff (PDF)
Science (American Association for the Advancement of Science), 2004-03, Vol.303 (5666), p.2033-2036
2004
Volltextzugriff (PDF)
European journal of medical genetics, 2014-09, Vol.57 (9), p.524-526
2014
Volltextzugriff (PDF)
Clinical genetics, 2016-04, Vol.89 (4), p.501-506
- Avila, M.
- Dyment, D.A.
- Sagen, J.V.
- St-Onge, J.
- Moog, U.
- Chung, B.H.Y.
- Mo, S.
- Mansour, S.
- Albanese, A.
- Garcia, S.
- Martin, D.O.
- Lopez, A.A.
- Claudi, T.
- König, R.
- White, S.M.
- Sawyer, S.L.
- Bernstein, J.A.
- Slattery, L.
- Jobling, R.K.
- Yoon, G.
- Curry, C.J.
- Merrer, M.L.
- Luyer, B.L.
- Héron, D.
- Mathieu-Dramard, M.
- Bitoun, P.
- Odent, S.
- Amiel, J.
- Kuentz, P.
- Thevenon, J.
- Laville, M.
- Reznik, Y.
- Fagour, C.
- Nunes, M.-L.
- Delesalle, D.
- Manouvrier, S.
- Lascols, O.
- Huet, F.
- Binquet, C.
- Faivre, L.
- Rivière, J.-B.
- Vigouroux, C.
- Njølstad, P.R.
- Innes, A.M.
- Thauvin-Robinet, C.
2016
Volltextzugriff (PDF)
Cell death and differentiation, 2016-12, Vol.23 (12), p.1973-1984
- Zak, J
- Vives, V
- Szumska, D
- Vernet, A
- Schneider, J E
- Miller, P
- Slee, E A
- Joss, S
- Lacassie, Y
- Chen, E
- Escobar, L F
- Tucker, M
- Aylsworth, A S
- Dubbs, H A
- Collins, A T
- Andrieux, J
- Dieux-Coeslier, A
- Haberlandt, E
- Kotzot, D
- Scott, D A
- Parker, M J
- Zakaria, Z
- Choy, Y S
- Wieczorek, D
- Innes, A M
- Jun, K R
- Zinner, S
- Prin, F
- Lygate, C A
- Pretorius, P
- Rosenfeld, J A
- Mohun, T J
- Lu, X
2016
Volltextzugriff (PDF)
Journal of medical genetics, 2003-11, Vol.40 (11), p.e126-126
2003
Volltextzugriff (PDF)
American journal of medical genetics, 2003-07, Vol.120A (3), p.423-428
2003
Volltextzugriff (PDF)
Journal of neurosurgery, 2001-09, Vol.95 (3), p.513
2001
Volltextzugriff (PDF)
Journal of child neurology, 2001-10, Vol.16 (10), p.778-778
2001
Volltextzugriff (PDF)
Clinical genetics, 2002-04, Vol.61 (4), p.263-267
2002
Volltextzugriff (PDF)
Molecular genetics and metabolism, 2001-05, Vol.73 (1), p.55-63
2001
Volltextzugriff (PDF)
Neuropediatrics, 2007-04, Vol.38 (2), p.64
2007
Volltextzugriff (PDF)
Cochrane database of systematic reviews, 2000 (2), p.CD001961
2000
Volltextzugriff (PDF)
Clinical genetics, 2016-03, Vol.89 (3), p.275-284
- Sawyer, S.L.
- Hartley, T.
- Dyment, D.A.
- Beaulieu, C.L.
- Schwartzentruber, J.
- Smith, A.
- Bedford, H.M.
- Bernard, G.
- Bernier, F.P.
- Brais, B.
- Bulman, D.E.
- Warman Chardon, J.
- Chitayat, D.
- Deladoëy, J.
- Fernandez, B.A.
- Frosk, P.
- Geraghty, M.T.
- Gerull, B.
- Gibson, W.
- Gow, R.M.
- Graham, G.E.
- Green, J.S.
- Heon, E.
- Horvath, G.
- Innes, A.M.
- Jabado, N.
- Kim, R.H.
- Koenekoop, R.K.
- Khan, A.
- Lehmann, O.J.
- Mendoza-Londono, R.
- Michaud, J.L.
- Nikkel, S.M.
- Penney, L.S.
- Polychronakos, C.
- Richer, J.
- Rouleau, G.A.
- Samuels, M.E.
- Siu, V.M.
- Suchowersky, O.
- Tarnopolsky, M.A.
- Yoon, G.
- Zahir, F.R.
- Majewski, J.
- Boycott, K.M.
2016
Volltextzugriff (PDF)
Complementary therapies in medicine, 2002-03, Vol.10 (1), p.27-32
2002
Volltextzugriff (PDF)
Journal of clinical pharmacy and therapeutics, 2000-12, Vol.25 (6), p.399-409
2000
Volltextzugriff (PDF)
Suchergebnisse filtern
Filter anzeigenNur zeigen
Publikationsform
Sprache
Erscheinungsjahr
n.n
n.n
Thema
- Science & Technology
- Life Sciences & Biomedicine
- Humans
- Female
- Biological And Medical Sciences
- Male
- Animals
- Adult
- Fundamental And Applied Biological Sciences. Psychology
- Medical Sciences
- Middle Aged
- Physical Sciences
- Social Sciences
- Genetics & Heredity
- Adolescent
- Child
- Aged
- Physics
- General & Internal Medicine
- Plant Sciences
Kollektion
- MEDLINE
- EZB Electronic Journals Library
- IngentaConnect
- Journals@OVID
- Publisher or Other Site
- ScienceDirect Journals (5 years ago - present)
- Wiley Journals
- IngentaConnect Journals
- Elsevier Journal Backfiles on ScienceDirect (DFG Nationallizenzen)
- Wiley Online Library Full Collection 2018
- JSTOR
- Springer Journals
- APS: American Physical Society E-Journals (Physics)
- Oxford Journals
- PROLA - Physical Review Online Archive
- SpringerLINK Contemporary (Konsortium Baden-Württemberg)
- Psychology & Behavioral Sciences Collection
- Taylor & Francis:Master (3349 titles)
- Taylor & Francis Journals Auto-Holdings Collection
- Taylor & Francis
Zeitschrift / Serie
- Physical Review Letters
- Physical Review. D, Particles And Fields
- Veterinary And Comparative Orthopaedics And Traumatology
- The Lancet
- Physical Review. D
- American Journal Of Human Genetics
- Canadian Journal Of Emergency Medicine
- Thorax
- The Astrophysical Journal
- Cjem. Canadian Journal Of Emergency Medical Care/cjem
Neu hinzugefügt