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Journal of Medical Genetics, ISSN 0022-2593, 09/2015, Volume 52, Issue 9, pp. 599 - 606
Journal Article
Stem Cells and Development, ISSN 1547-3287, 09/2015, Volume 24, Issue 17, pp. 232 - 2040
Journal Article
Journal of Clinical Investigation, ISSN 0021-9738, 11/2014, Volume 124, Issue 11, p. 4773
  There are 3 major sweat-producing glands present in skin; eccrine, apocrine, and apoeccrine glands. Due to the high rate of secretion, eccrine sweating is a... 
Proteins | Studies | Heat | Microscopy | Biopsy | Laboratories | Morphology | Families & family life | Net losses | Skin | Genomes | Mutation
Journal Article
Clinical Pharmacology & Therapeutics, ISSN 0009-9236, 06/2010, Volume 87, Issue 6, pp. 727 - 734
Journal Article
Journal of Clinical Investigation, ISSN 0021-9738, 11/2014, Volume 124, Issue 11, pp. 4773 - 4773
There are 3 major sweat-producing glands present in skin; eccrine, apocrine, and apoeccrine glands. Due to the high rate of secretion, eccrine sweating is a... 
Journal Article
Spine Deformity, ISSN 2212-134X, 2019
Study Design: Reproducibility study. Objectives: To report the agreement and reliability for commonly used sagittal plane measurements. Summary of Background... 
Agreement | Adult | Reliability | Reproducibility | Spine
Journal Article
Journal of Medical Genetics, ISSN 0022-2593, 03/1998, Volume 52, Issue 3, p. 195
Background Fetal akinesia deformation sequence syndrome (FADS, OMIM 208150) is characterised by decreased fetal movement (fetal akinesia) as well as... 
Journal Article
by Ventham, N.T and Kennedy, N.A and Adams, A.T and Kalla, R and Heath, S and O'Leary, K.R and Drummond, H and Wilson, D.C and Gut, I.G and Nimmo, E.R and Satsangi, J and Lauc, Gordan and Campbell, Harry and McGovern, Dermot P.B and Annese, Vito and Zoldoš, Vlatka and Permberton, Iain K and Wuhrer, Manfred and Kolarich, Daniel and Fernandes, Daryl L and Theorodorou, Evropi and Merrick, Victoria and Spencer, Daniel I and Gardner, Richard A and Doran, Ray and Shubhakar, Archana and Boyapati, Ray and Rudan, Igor and Lionetti, Paolo and Akmačić, Irena Trbojević and Krištić, Jasminka and Vučković, Frano and Štambuk, Jerko and Novokmet, Mislav and Pučić-Baković, Maja and Gornik, Olga and Andriulli, Angelo and Cantoro, Laura and Sturniolo, Giancarlo and Fiorino, Gionata and Manetti, Natalia and Latiano, Anna and Kohn, Anna and D'Incà, Renata and Danese, Silvio and Arnott, Ian D and Noble, Colin L and Lees, Charlie W and Shand, Alan G and Ho, Gwo-Tzer and Dunlop, Malcolm G and Murphy, Lee and Gibson, Jude and Evenden, Louise and Wrobel, Nicola and Gilchrist, Tamara and Fawkes, Angie and Kammeijer, Guinevere S.M and Clerc, Florent and De Haan, Noortje and Vojta, Aleksandar and Samaržija, Ivana and Markulin, Dora and Klasić, Marija and Dobrinić, Paula and Aulchenko, Yurii and Van Den Heuve, Tim and Jonkers, Daisy and Pierik, Marieke and Vatn, Simen and Ricanek, Petr and Jahnsen, Jørgen and You, Panpan and Sølvernes, Janne and Frengen, Anna B and Tannæs, Tone M and Moen, Aina E.F and Dahl, Fredrik A and Lindstrøm, Jonas Christoffer and Ekeland, Gunn S and Detlie, Trond Espen and Keita, Åsa V and Söderholm, Johan D and Hjortswang, Henrik and Halfvarson, Jonas and Bergemalm, Daniel and Gomollón, Fernando and D'Amato, Mauro and Törkvist, Leif and Hjelm, Fredrik and Gullberg, Mats and Nordberg, Niklas and Ocklind, Anette and Pettersson, Erik and Ekman, Daniel and Sundell, Mikael and Modig, Eddie and Veillard, Anne-Clémence and Schoemans, Renaud and Poncelet, Dominique and ... and IBD CHARACTER Consortiumw and IBD BIOM Consortium and IBD CHARACTER consortium and IBD BIOM consortium
Nature Communications, ISSN 2041-1723, 11/2016, Volume 7, Issue 1, pp. 13507 - 13507
Journal Article
by Jakubowska, A and Rozkrut, D and Antoniou, A and Hamann, U and Scott, R. J and McGuffog, L and Healy, S and Sinilnikova, O. M and Rennert, G and Lejbkowicz, F and Flugelman, A and Anulis, I. L and Glendon, G and Ozcelik, H and Thomassen, M and Paligo, M and Aretini, P and Kantala, J and Aroer, B and Von Wachenfeldt, A and Liljegren, A and Loman, N and Herbst, K and Kristoffersson, U and Rosenquist, R and Karlsson, P and Stenmark-Askmalm, M and Melin, B and Nathanson, K. L and Domchek, S. M and Byrski, T and Huzarski, T and Gronwald, J and Menkiszak, J and Cybulski, C and Serrano, P and Osorio, A and Cajal, T. R and Tsitlaidou, M and Benítez, J and Gilbert, M and Rookus, M and Aalfs, C. M and Kluijt, I and Boessenkool-Pape, J. L and Meijers-Heijboer, H. E. J and Oosterwijk, J. C and van Asperen, C. J and Blok, M. J and Nelen, M. R and van den Ouweland, A. M. W and Seynaeve, C and van der Luijt, R. B and Devilee, P and Easton, D. F and Peock, S and Frost, D and Platte, R and Ellis, S. D and Fineberg, E and Evans, D. G and Lalloo, F and Eeles, R and Jacobs, C and Adlard, J and Davidson, R and Eccles, D and Cole, T and Cook, J and Godwin, A and Bove, B and Stoppa-Lyonnet, D and Caux-Moncoutier, V and Belotti, M and Tirapo, C and Mazoyer, S and Barjhoux, L and Boutry-Kryza, N and Pujol, P and Coupier, I and Peyrat, J.-P and Vennin, P and Muller, D and Fricker, J.-P and Venat-Bouvet, L and Johannsson, O. Th and Isaacs, C and Schmutzler, R and Wappenschmidt, B and Meindl, A and Arnold, N and Varon-Mateeva, R and Niederacher, D and Sutter, C and Deissler, H and Preisler-Adams, S and Simard, J and Soucy, P and Durocher, F and Chenevix-Trench, G and ... and KConFab and EMBRACE and GEMO Study Collaborators and CIMBA and SWE BRCA and HEBON and OCGN and CIMBA, the Consortium of Investigators of Modifiers of BRCA1/2-Related Cancer and SWE-BRCA and on behalf of CIMBA, the Consortium of Investigators of Modifiers of BRCA1/2-Related Cancer and Medicinska fakulteten and Institutionen för strålningsvetenskaper and Onkologi and Umeå universitet
British journal of cancer, ISSN 0007-0920, 2012, Volume 106, Issue 12, pp. 2016 - 2024
Journal Article
Molecular Psychiatry, ISSN 1359-4184, 07/2018, Volume 23, Issue 7, pp. 1674 - 1684
Lissencephaly comprises a spectrum of brain malformations due to impaired neuronal migration in the developing cerebral cortex. Classical lissencephaly is... 
NEURONAL MIGRATION | PSYCHIATRY | BIOCHEMISTRY & MOLECULAR BIOLOGY | AXON GUIDANCE | MICROTUBULE-ASSOCIATED PROTEIN | DOUBLE CORTEX | RADIAL GLIA | NEUROSCIENCES | NEURAL STEM-CELLS | NEOCORTEX | NEURITE OUTGROWTH | LIS1 | DOUBLECORTIN-LIKE KINASE | Induced Pluripotent Stem Cells - physiology | Microtubule-Associated Proteins - genetics | Neurites - physiology | Humans | Cells, Cultured | Infant | Male | Neuropeptides - metabolism | Neuropeptides - physiology | Cell Movement - genetics | Cerebral Cortex - metabolism | Microtubule-Associated Proteins - physiology | Brain - metabolism | Neurogenesis - genetics | Cell Differentiation - genetics | Lissencephaly - metabolism | Lissencephaly - physiopathology | Fibroblasts | Neurons - metabolism | Neuropeptides - genetics | Neural Stem Cells - metabolism | Infant, Newborn | Induced Pluripotent Stem Cells - metabolism | Brain | Animal models | Cerebral cortex | Leukocyte migration | Cortex | Stem cell transplantation | Males | Neurogenesis | Proteins | Autopsy | Lissencephaly | Neurological complications | Morphology | Stem cells | Neural stem cells | Doublecortin protein | Mathematical models | Mutation | Differentiation | Pluripotency | Cell migration | Seizures | Thickening | Inhibitory postsynaptic potentials | Index Medicus | Basic Medicine | Medical Genetics | Medicinsk genetik | Medical and Health Sciences | Medicin och hälsovetenskap | Medicinska och farmaceutiska grundvetenskaper
Journal Article
by Ramus, Susan J and Antoniou, Antonis C and Kuchenbaecker, Karoline B and Soucy, Penny and Beesley, Jonathan and Chen, Xiaoqing and McGuffog, Lesley and Sinilnikova, Olga M and Healey, Sue and Barrowdale, Daniel and Lee, Anew and Thomassen, Mads and Gerdes, Anne-Marie and Kruse, Torben A and Jensen, Uffe Birk and Skytte, Anne-Bine and Caligo, Maria A and Liljegren, Annelie and Lindblom, Annika and Olsson, Håkan and Kristoffersson, Ulf and Stenmark-Askmalm, Marie and Melin, Beatrice and Domchek, Susan M and Nathanson, Katherine L and Rebbeck, Timothy R and Jakubowska, Anna and Lubinski, Jan and Jaworska, Katarzyna and Durda, Katarzyna and Złowocka, Elżbieta and Gronwald, Jacek and Huzarski, Tomasz and Byrski, Tomasz and Cybulski, Cezary and Toloczko-Grabarek, Aleksana and Osorio, Ana and Benitez, Javier and Duran, Mercedes and Tejada, Maria-Isabel and Hamann, Ute and Rookus, Matti and van Leeuwen, Flora E and Aalfs, Cora M and Meijers-Heijboer, Hanne E. J and van Asperen, Christi J and van Roozendaal, K. E. P and Hoogerbrugge, Nicoline and Collée, J. Margriet and Kriege, Mieke and van der Luijt, Rob B and Peock, Susan and Frost, Debra and Ellis, Steve D and Platte, Radka and Fineberg, Elena and Evans, D. Gareth and Lalloo, Fiona and Jacobs, Chris and Eeles, Ros and Adlard, Julian and Davidson, Rosemarie and Eccles, Diana and Cole, Trevor and Cook, Jackie and Paterson, Joan and Douglas, Fiona and Brewer, Carole and Hodgson, Shirley and Morrison, Patrick J and Walker, Lisa and Porteous, Mary E and Kennedy, M. John and Pathak, Harsh and Godwin, Anew K and Stoppa-Lyonnet, Dominique and Caux-Moncoutier, Virginie and de Pauw, Antoine and Gauthier-Villars, Marion and Mazoyer, Sylvie and Léoné, Mélanie and Calender, Alain and Lasset, Christine and Bonadona, Valérie and Hardouin, Agnès and Berthet, Pascaline and Bignon, Yves-Jean and Uhrhammer, Nancy and Faivre, Laurence and Loustalot, Catherine and Buys, Sauna and Daly, Mary and Miron, Alex and Terry, Mary Beth and Chung, Wendy K and John, Esther M and Southey, Melissa and Goldgar, David and Singer, Christian F and tea, Muy-Kheng and ... and EMBRACE and GEMO and HEBON and kConFab and OCGN and SWE-BRCA and Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA) and Linköpings universitet and Institutionen för klinisk och experimentell medicin and Diagnostikcentrum and Klinisk patologi och klinisk genetik and Östergötlands Läns Landsting and Onkologi and Hälsouniversitetet
Human mutation, ISSN 1059-7794, 2012, Volume 33, Issue 4, pp. 690 - 702
Journal Article