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by Hu, H and Haas, S.A and Chelly, J and Esch, H. Van and Raynaud, M and Brouwer, A.P. de and Weinert, S and Froyen, G and Frints, S.G and Laumonnier, F and Zemojtel, T and Love, M.I and Richard, H and Emde, A.K and Bienek, M and Jensen, C and Hambrock, M and Fischer, U and Langnick, C and Feldkamp, M and Wissink-Lindhout, W and Lebrun, N and Castelnau, L and Rucci, J and Montjean, R and Dorseuil, O and Billuart, P and Stuhlmann, T and Shaw, M and Corbett, M.A and Gardner, A and Willis-Owen, S and Tan, C and Friend, K.L and Belet, S and Roozendaal, K.E. van and Jimenez-Pocquet, M and Moizard, M.P and Ronce, N and Sun, R and O'Keeffe, S and Chenna, R and Bommel, A. van and Goke, J and Hackett, A and Field, M and Christie, L and Boyle, J and Haan, E and Nelson, J and Turner, G and Baynam, G and Gillessen-Kaesbach, G and Muller, U and Steinberger, D and Budny, B and Badura-Stronka, M and Latos-Bielenska, A and Ousager, L.B and Wieacker, P and Roiguez Criado, G and Bondeson, M.L and Anneren, G and Dufke, A and Cohen, M and Maldergem, L. Van and Vincent-Delorme, C and Echenne, B and Simon-Bouy, B and Kleefstra, T and Willemsen, M.H and Fryns, J.P and Devriendt, K and Ullmann, R and Vingron, M and Wrogemann, K and Wienker, T.F and Tzschach, A and Bokhoven, H. van and Gecz, J and Jentsch, T.J and Chen, W and Ropers, H.H and Kalscheuer, V.M and Medicinska fakulteten and Medicinska och farmaceutiska vetenskapsområdet and Institutionen för immunologi, genetik och patologi and Uppsala universitet and Medicinsk genetik och genomik
Molecular Psychiatry, ISSN 1359-4184, 2016, Volume 21, Issue 1, pp. 133 - 148
X-linked intellectual disability (XLID) is a clinically and genetically heterogeneous disorder. During the past two decades in excess of 100 X-chromosome ID... 
LYSOSOMAL STORAGE DISEASE | HOMEODOMAIN TRANSCRIPTION FACTORS | PSYCHIATRY | BIOCHEMISTRY & MOLECULAR BIOLOGY | SPINE MORPHOGENESIS | AUTISM SPECTRUM DISORDERS | RIBOSOME BIOGENESIS | NEUROSCIENCES | LINKED MENTAL-RETARDATION | DE-NOVO MUTATIONS | NEURITE OUTGROWTH | MARTIN-PROBST SYNDROME | CHLORIDE CHANNEL | Neurons - pathology | Humans | Histone Acetyltransferases - genetics | Male | Chloride Channels - genetics | RNA, Messenger - metabolism | Genetic Variation | Transcription Factor TFIID - genetics | Mental Retardation, X-Linked - genetics | Adult | Neurons - metabolism | Cyclin-Dependent Kinases - genetics | Nuclear Proteins - genetics | Intracellular Signaling Peptides and Proteins - genetics | Microfilament Proteins - genetics | Cells, Cultured | TATA-Binding Protein Associated Factors - genetics | Mice, Knockout | Chloride Channels - metabolism | Animals | Adaptor Proteins, Signal Transducing - genetics | Adolescent | High-Throughput Nucleotide Sequencing | Ubiquitin-Protein Ligases - genetics | Cohort Studies | Complications and side effects | Usage | Care and treatment | Genetic aspects | Nucleotide sequencing | Mental retardation | DNA sequencing | Original | Basic Medicine | Neurosciences | Medical and Health Sciences | Medicin och hälsovetenskap | Medicinsk bioteknologi | Klinisk medicin | Medical Biotechnology (with a focus on Cell Biology (including Stem Cell Biology), Molecular Biology, Microbiology, Biochemistry or Biopharmacy) | Medicinsk bioteknologi (med inriktning mot cellbiologi (inklusive stamcellsbiologi), molekylärbiologi, mikrobiologi, biokemi eller biofarmaci) | Medical Biotechnology | Clinical Medicine | Medicinska och farmaceutiska grundvetenskaper | Psykiatri | Psychiatry | Neurovetenskaper
Journal Article
Journal Article
Optics Letters, ISSN 0146-9592, 05/2017, Volume 42, Issue 10, pp. 1931 - 1934
We report the enhancement of infrared absorption of chemisorbed carbon monoxide on platinum in the gap of plasmonic nanoantennas. Our method is based on the... 
RAMAN-SCATTERING | DESORPTION | FANO RESONANCES | ATR-IR | VIBRATIONAL SPECTROSCOPY | OPTICS | GOLD NANOANTENNAS | ARRAYS | MONOLAYERS | REAL-TIME
Journal Article
Nature Genetics, ISSN 1061-4036, 2008, Volume 40, Issue 1, pp. 32 - 34
We identified loss-of-function mutations in ATP6V0A2, encoding the a2 subunit of the V-type H+ ATPase, in several families with autosomal recessive cutis laxa... 
V-ATPASE | COMPLEX-FORMATION | DEFECTS | PATHWAY | GENETICS & HEREDITY | DEFICIENCY REVEALS | CONGENITAL DISORDER | Cutis Laxa - metabolism | Golgi Apparatus | Proton-Translocating ATPases - genetics | Humans | Female | Infant | Male | Cutis Laxa - genetics | Glycosylation | Proteins | Genetics | Skin diseases | Biochemistry | Mutation
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 07/2012, Volume 91, Issue 1, pp. 73 - 82
Journal Article
Journal of the American Chemical Society, ISSN 0002-7863, 2000, Volume 122, Issue 51, pp. 12842 - 12847
Using 27Al MAS and 27Al MQ MAS NMR, dealumination of zeolite H-Beta has been observed at specific T-positions in the framework. 27Al MQ MAS NMR is able to... 
Journal Article
Catalysis Science & Technology, ISSN 2044-4753, 06/2019, Volume 9, Issue 12, pp. 3081 - 3089
We compare two reactor setups commonly used to make operando measurements of catalyst behavior using X-rays in terms of the degree to which they may be... 
Journal Article