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Annual review of genomics and human genetics, 2017-08, Vol.18 (1), p.257-275
2017
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The Journal of pathology, 2017-01, Vol.241 (2), p.236-250
2017
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Annals of neurology, 2015-05, Vol.77 (5), p.753-759
2015
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EMBO molecular medicine, 2018-06, Vol.10 (6), p.n/a
2018
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European journal of human genetics : EJHG, 2023-02, Vol.31 (2), p.148-163
2023
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American journal of human genetics, 2016-05, Vol.98 (5), p.993-1000
2016
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Genome Biology, 2020-09, Vol.21 (1), p.248-34, Article 248
2020
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Human mutation, 2011-11, Vol.32 (11), p.1319-1325
2011
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American journal of human genetics, 2016-10, Vol.99 (4), p.860-876
- Thompson, Kyle
- Majd, Homa
- Dallabona, Cristina
- Reinson, Karit
- King, Martin S.
- Alston, Charlotte L.
- He, Langping
- Lodi, Tiziana
- Jones, Simon A.
- Fattal-Valevski, Aviva
- Fraenkel, Nitay D.
- Saada, Ann
- Haham, Alon
- Isohanni, Pirjo
- Vara, Roshni
- Barbosa, Inês A.
- Simpson, Michael A.
- Deshpande, Charu
- Puusepp, Sanna
- Bonnen, Penelope E.
- Rodenburg, Richard J.
- Suomalainen, Anu
- Õunap, Katrin
- Elpeleg, Orly
- Ferrero, Ileana
- McFarland, Robert
- Kunji, Edmund R.S.
- Taylor, Robert W.
2016
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American journal of human genetics, 2015-08, Vol.97 (2), p.319-328
- Powell, Christopher A.
- Kopajtich, Robert
- D’Souza, Aaron R.
- Rorbach, Joanna
- Kremer, Laura S.
- Husain, Ralf A.
- Dallabona, Cristina
- Donnini, Claudia
- Alston, Charlotte L.
- Griffin, Helen
- Pyle, Angela
- Chinnery, Patrick F.
- Strom, Tim M.
- Meitinger, Thomas
- Rodenburg, Richard J.
- Schottmann, Gudrun
- Schuelke, Markus
- Romain, Nadine
- Haller, Ronald G.
- Ferrero, Ileana
- Haack, Tobias B.
- Taylor, Robert W.
- Prokisch, Holger
- Minczuk, Michal
2015
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Journal of medical genetics, 2017-02, Vol.54 (2), p.73
2017
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American journal of human genetics, 2016-07, Vol.99 (1), p.246-246
2016
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Annals of neurology, 2016-11, Vol.80 (5), p.686-692
2016
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EMBO molecular medicine, 2020-11, Vol.12 (11), p.e12619-n/a
2020
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American journal of human genetics, 2016-09, Vol.99 (3), p.674-682
- Kennedy, Hannah
- Haack, Tobias B.
- Hartill, Verity
- Mataković, Lavinija
- Baumgartner, E. Regula
- Potter, Howard
- Mackay, Richard
- Alston, Charlotte L.
- O’Sullivan, Siobhan
- McFarland, Robert
- Connolly, Grainne
- Gannon, Caroline
- King, Richard
- Mead, Scott
- Crozier, Ian
- Chan, Wandy
- Florkowski, Chris M.
- Sage, Martin
- Höfken, Thomas
- Alhaddad, Bader
- Kremer, Laura S.
- Kopajtich, Robert
- Feichtinger, René G.
- Sperl, Wolfgang
- Rodenburg, Richard J.
- Minet, Jean Claude
- Dobbie, Angus
- Strom, Tim M.
- Meitinger, Thomas
- George, Peter M.
- Johnson, Colin A.
- Taylor, Robert W.
- Prokisch, Holger
- Doudney, Kit
- Mayr, Johannes A.
2016
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Biochimica et biophysica acta, 2014-01, Vol.1842 (1), p.56-64
2014
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European journal of human genetics : EJHG, 2015-07, Vol.23 (7), p.935-939
2015
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Molecular genetics and metabolism, 2020-09, Vol.131 (1-2), p.53-65
2020
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The genetics of mitochondrial disease: dissecting mitochondrial pathology using multi‐omic pipelines
2021
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Journal of inherited metabolic disease, 2020-01, Vol.43 (1), p.36-50
2020
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American journal of human genetics, 2016-12, Vol.99 (6), p.1405-1405
- Thompson, Kyle
- Majd, Homa
- Dallabona, Cristina
- Reinson, Karit
- King, Martin S.
- Alston, Charlotte L.
- He, Langping
- Lodi, Tiziana
- Jones, Simon A.
- Fattal-Valevski, Aviva
- Fraenkel, Nitay D.
- Saada, Ann
- Haham, Alon
- Isohanni, Pirjo
- Vara, Roshni
- Barbosa, Inês A.
- Simpson, Michael A.
- Deshpande, Charu
- Puusepp, Sanna
- Bonnen, Penelope E.
- Rodenburg, Richard J.
- Suomalainen, Anu
- Õunap, Katrin
- Elpeleg, Orly
- Ferrero, Ileana
- McFarland, Robert
- Kunji, Edmund R.S.
- Taylor, Robert W.
2016
Link zum Volltext
Methods in molecular biology (Clifton, N.J.), 2023, Vol.2615, p.397
2023
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Molecular cell, 2016-08, Vol.63 (4), p.621-632
- Floyd, Brendan J.
- Wilkerson, Emily M.
- Veling, Mike T.
- Minogue, Catie E.
- Xia, Chuanwu
- Beebe, Emily T.
- Wrobel, Russell L.
- Cho, Holly
- Kremer, Laura S.
- Alston, Charlotte L.
- Gromek, Katarzyna A.
- Dolan, Brendan K.
- Ulbrich, Arne
- Stefely, Jonathan A.
- Bohl, Sarah L.
- Werner, Kelly M.
- Jochem, Adam
- Westphall, Michael S.
- Rensvold, Jarred W.
- Taylor, Robert W.
- Prokisch, Holger
- Kim, Jung-Ja P.
- Coon, Joshua J.
- Pagliarini, David J.
2016
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JAMA : the journal of the American Medical Association, 2014-07, Vol.312 (1), p.68
- 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
- Turnbull, Douglass M
- Santibanez-Koref, Mauro
- McFarland, Robert
- Horvath, Rita
- Chinnery, Patrick F
2014
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JIMD reports, 2020-07, Vol.54 (1), p.45-53
- Cotta, Ana
- Alston, Charlotte L.
- Baptista‐Junior, Sidney
- Paim, Julia F.
- Carvalho, Elmano
- Navarro, Monica M.
- Appleton, Marie
- Ng, Yi Shiau
- Valicek, Jaquelin
- da‐Cunha‐Junior, Antonio L.
- Lima, Maria I.
- Rocque Ferreira, Alessandra
- Takata, Reinaldo I.
- Hargreaves, Iain P.
- Gorman, Gráinne S.
- McFarland, Robert
- Pierre, Germaine
- Taylor, Robert W.
2020
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- American Journal Of Human Genetics
- Journal Of The Neurological Sciences
- Neuromuscular Disorders : Nmd
- European Journal Of Human Genetics : Ejhg
- Human Mutation
- Journal Of Neuropathology And Experimental Neurology
- Annals Of Clinical And Translational Neurology
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