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Joakim Klar
Joakim Klar
Verified email at igp.uu.se - Homepage
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Cited by
Year
Gaia data release 2-summary of the contents and survey properties
AGA Brown, A Vallenari, T Prusti, JHJ De Bruijne, C Babusiaux, ...
Astronomy & astrophysics 616, A1, 2018
8890*2018
The gene encoding ribosomal protein S19 is mutated in Diamond-Blackfan anaemia
N Draptchinskaia, P Gustavsson, B Andersson, M Pettersson, TN Willig, ...
Nature genetics 21 (2), 169-175, 1999
9851999
Vascular endothelial growth factor B controls endothelial fatty acid uptake
CE Hagberg, A Falkevall, X Wang, E Larsson, J Huusko, I Nilsson, ...
Nature 464 (7290), 917-921, 2010
5652010
CALIFA, the Calar Alto Legacy Integral Field Area survey-II. First public data release
B Husemann, K Jahnke, SF Sánchez, D Barrado, S Bekerait, DJ Bomans, ...
Astronomy & Astrophysics 549, A87, 2013
2732013
Vascular endothelial growth factor-B induces myocardium-specific angiogenesis and arteriogenesis via vascular endothelial growth factor receptor-1–and neuropilin receptor-1 …
JE Lähteenvuo, MT Lähteenvuo, A Kivelä, C Rosenlew, A Falkevall, ...
Circulation 119 (6), 845-856, 2009
2402009
Isolated oligodontia associated with mutations in EDARADD, AXIN2, MSX1, and PAX9 genes
B Bergendal, J Klar, C Stecksén‐Blicks, J Norderyd, N Dahl
American Journal of Medical Genetics Part A 155 (7), 1616-1622, 2011
2032011
Mutations in the fatty acid transport protein 4 gene cause the ichthyosis prematurity syndrome
J Klar, M Schweiger, R Zimmerman, R Zechner, H Li, H Törmä, ...
The American Journal of Human Genetics 85 (2), 248-253, 2009
1812009
Alpha-cardiac actin mutations produce atrial septal defects
H Matsson, J Eason, CS Bookwalter, J Klar, P Gustavsson, J Sunnegårdh, ...
Human molecular genetics 17 (2), 256-265, 2008
1782008
Mutations in the gene encoding fibroblast growth factor 10 are associated with aplasia of lacrimal and salivary glands
M Entesarian, H Matsson, J Klar, B Bergendal, L Olson, R Arakaki, ...
Nature genetics 37 (2), 125-128, 2005
1752005
The MUSE-Wide Survey: survey description and first data release
T Urrutia, L Wisotzki, J Kerutt, KB Schmidt, EC Herenz, J Klar, R Saust, ...
Astronomy & Astrophysics 624, A141, 2019
1102019
Welander Distal Myopathy Caused by an Ancient Founder Mutation in TIA1 Associated with Perturbed Splicing
J Klar, M Sobol, A Melberg, K Mäbert, A Ameur, ACV Johansson, L Feuk, ...
Human mutation 34 (4), 572-577, 2013
1102013
WNT10A mutations account for ¼ of population‐based isolated oligodontia and show phenotypic correlations
PS Arzoo, J Klar, B Bergendal, J Norderyd, N Dahl
American Journal of Medical Genetics Part A 164 (2), 353-359, 2014
1042014
A single-nucleotide deletion in the POMP 5′ UTR causes a transcriptional switch and altered epidermal proteasome distribution in KLICK genodermatosis
J Dahlqvist, J Klar, N Tiwari, J Schuster, H Törmä, J Badhai, R Pujol, ...
The American Journal of Human Genetics 86 (4), 596-603, 2010
972010
Variant phenotype of Best vitelliform macular dystrophy associated with compound heterozygous mutations in VMD2
P Schatz, J Klar, S Andréasson, V Ponjavic, N Dahl
Ophthalmic genetics 27 (2), 51-56, 2006
912006
Fibroblast growth factor 10 haploinsufficiency causes chronic obstructive pulmonary disease
J Klar, P Blomstrand, C Brunmark, J Badhai, HF Håkansson, CS Brange, ...
Journal of medical genetics 48 (10), 705-709, 2011
852011
WNT10A missense mutation associated with a complete odonto-onycho-dermal dysplasia syndrome
S Nawaz, J Klar, M Wajid, M Aslam, M Tariq, J Schuster, SM Baig, N Dahl
European journal of human genetics 17 (12), 1600-1605, 2009
822009
Congenital ichthyosis: mutations in ichthyin are associated with specific structural abnormalities in the granular layer of epidermis
J Dahlqvist, J Klar, I Hausser, I Anton-Lamprecht, MH Pigg, T Gedde-Dahl, ...
Journal of medical genetics 44 (10), 615-620, 2007
812007
Abolished InsP3R2 function inhibits sweat secretion in both humans and mice
J Klar, C Hisatsune, SM Baig, M Tariq, ACV Johansson, M Rasool, ...
The Journal of clinical investigation 124 (11), 4773-4780, 2014
802014
Mutations in Frizzled 6 cause isolated autosomal-recessive nail dysplasia
AS Fröjmark, J Schuster, M Sobol, M Entesarian, MBC Kilander, ...
The American Journal of Human Genetics 88 (6), 852-860, 2011
792011
A Meniere's disease gene linked to chromosome 12p12. 3
J Klar, C Frykholm, U Friberg, N Dahl
American Journal of Medical Genetics Part B: Neuropsychiatric Genetics 141 …, 2006
732006
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