X
Search Filters
Format Format
Format Format
X
Sort by Item Count (A-Z)
Filter by Count
Journal Article (218) 218
Publication (38) 38
Patent (34) 34
Book Review (6) 6
Book / eBook (4) 4
Conference Proceeding (3) 3
Book Chapter (2) 2
Magazine Article (1) 1
Report (1) 1
more...
Subjects Subjects
Subjects Subjects
X
Sort by Item Count (A-Z)
Filter by Count
index medicus (121) 121
humans (113) 113
female (65) 65
male (60) 60
mutation (49) 49
adult (37) 37
middle aged (33) 33
retinitis pigmentosa - genetics (32) 32
genetics & heredity (30) 30
genetic aspects (27) 27
pedigree (26) 26
retinitis pigmentosa (25) 25
animals (23) 23
genetics (23) 23
mutations (22) 22
aged (20) 20
eye proteins - genetics (19) 19
gene (19) 19
ophthalmology (19) 19
protein (18) 18
research (18) 18
dna mutational analysis (17) 17
genomes (17) 17
multidisciplinary sciences (17) 17
analysis (16) 16
disease (16) 16
molecular sequence data (16) 16
adolescent (15) 15
alleles (15) 15
amino acid sequence (15) 15
biochemistry & molecular biology (15) 15
genes (15) 15
medical and health sciences (15) 15
medicin och hälsovetenskap (15) 15
mice (15) 15
child (14) 14
genomics (14) 14
phenotype (14) 14
proteins (14) 14
base sequence (13) 13
cell line (13) 13
chemistry (13) 13
gene expression (13) 13
hematology (13) 13
metallurgy (13) 13
blasting (12) 12
eye proteins - metabolism (12) 12
heating (12) 12
identification (12) 12
lighting (12) 12
mechanical engineering (12) 12
medical genetics (12) 12
medicine (12) 12
mutation, missense (12) 12
peripheral vascular disease (12) 12
retina (12) 12
weapons (12) 12
adding materials to fuels or fires to reduce smoke orundesirable deposits or to facilitate soot removal (11) 11
article (11) 11
child, preschool (11) 11
combustion engines (11) 11
combustion engines in general (11) 11
controlling combustion engines (11) 11
firelighters (11) 11
fuels (11) 11
fuels not otherwise provided for (11) 11
genetic research (11) 11
genome-wide association study (11) 11
hot-gas or combustion-product engine plants (11) 11
internal-combustion piston engines (11) 11
liquefied petroleum gas (11) 11
lubricants (11) 11
natural gas (11) 11
neurosciences (11) 11
peat (11) 11
petroleum, gas or coke industries (11) 11
research article (11) 11
retinal degeneration (11) 11
sequence analysis, dna (11) 11
synthetic natural gas obtained by processes not covered bysubclasses c10g, c10k (11) 11
technical gases containing carbon monoxide (11) 11
abridged index medicus (10) 10
diagnosis (10) 10
dna (10) 10
medical research (10) 10
physics (10) 10
aged, 80 and over (9) 9
eye diseases (9) 9
gene mutations (9) 9
mutation - genetics (9) 9
patients (9) 9
polymorphism, single nucleotide (9) 9
young adult (9) 9
biology (8) 8
cell biology (8) 8
cells (8) 8
dna sequencing (8) 8
expression (8) 8
genes, dominant (8) 8
genes, recessive (8) 8
more...
Library Location Library Location
Language Language
Publication Date Publication Date
Click on a bar to filter by decade
Slide to change publication date range


PLoS ONE, ISSN 1932-6203, 07/2012, Volume 7, Issue 7, pp. e41902 - e41902
Journal Article
by Allen, H.L and Estrada Gil, Karol and Lettre, Guillaume and Berndt, Sonja and Rivadeneira Ramirez, Fernando and Willer, Cristen and Jackson, Anne and Vedantam, Sailaja and Raychaudhuri, Soumya and Ferreira, Teresa and Wood, Anew and Weyant, Robert and Segrè, Ayellet and Speliotes, Elizabeth and Wheeler, Eleanor and Soranzo, Nicole and Park, J.H and Yang, Joanna and Gudbjartsson, Daniel and Heard-Costa, Nancy and Randall, Joshua and Qi, Lu and Smith, Albert Vernon and Mägi, Reedik and Pastinen, Tomi and Liang, Liming and Heid, Iris and Luan, J and Thorleifsson, Gudmar and Winkler, Thomas and Goddard, Michael and Lo, K.S and Palmer, Cameron and Workalemahu, Tsegaselassie and Aulchenko, Yurii and Johansson, Åsa and Zillikens, Carola and Feitosa, Mary Furlan and Esko, Tõnu and Johnson, Toby and Ketkar, Shamika and Kraft, Peter and Mangino, Massimo and Prokopenko, Inga and Absher, Devin and Albrecht, Eva and Ernst, Florian and Glazer, Nicole and Hayward, Caroline and Hottenga, Jouke Jan and Jacobs, Kevin and Knowles, Joshua and Kutalik, Zoltán and Monda, Keri and Polasek, Ozren and Preuss, Michael and Rayner, Nigel William and Robertson, Neil and Steinthorsdottir, Valgerdur and Tyrer, Jonathan and Voight, Benjamin and Wiklund, Freik and Xu, Jianfeng and Zhao, Jing Hua and Nyholt, Dale and Pellikka, Niina and Perola, Markus and Perry, John and Surakka, Ida and Tammesoo, M.L and Altmaier, Elizabeth and Amin, Najaf and Aspelund, Thor and Bhangale, Tushar and Boucher, Gabrielle and Chasman, Daniel and Chen, Constance and Coin, Lachlan and Cooper, Matthew and Dixon, Anna and Gibson, Quince and Grundberg, Elin and Hao, Ke and Junttila, Juhani and Kaplan, Robert and Kettunen, Johannes and König, Inke and Kwan, Tony and Lawrence, Robert and Levinson, Douglas and Lorentzon, Mattias and McKnight, Barbara and Morris, Anew and Müller, Martina and Ngwa, J.S and Purcell, Shaun and Rafelt, Suzanne and Salem, Rany and Salvi, Erika and Sanna, Serena and ... and Procardis Consortium and Medicinska fakulteten and Medicinska och farmaceutiska vetenskapsområdet and Institutionen för genetik och patologi and Uppsala universitet
Nature: international weekly journal of science, ISSN 0028-0836, 10/2010, Volume 467, Issue 7317, pp. 832 - 838
Journal Article
Human molecular genetics, ISSN 0964-6906, 05/2002, Volume 11, Issue 10, pp. 1219 - 1227
Journal Article
Journal of Vascular Surgery, ISSN 0741-5214, 2016, Volume 63, Issue 1, pp. 8 - 15
Journal Article
PLoS ONE, ISSN 1932-6203, 06/2013, Volume 8, Issue 6, pp. e65574 - e65574
Background: Retinal dystrophies (RD) are a group of hereditary diseases that lead to debilitating visual impairment and are usually transmitted as a Mendelian... 
LEBER CONGENITAL AMAUROSIS | RP1 | GENE | USHER-SYNDROME | MULTIDISCIPLINARY SCIENCES | RECESSIVE RETINITIS-PIGMENTOSA | GENOTYPING MICROARRAY | MODIFIER ALLELES | MUTATIONS | IDENTIFICATION | SPANISH FAMILIES | Genetic Predisposition to Disease - genetics | Extracellular Matrix Proteins - genetics | Humans | Cyclic Nucleotide-Gated Cation Channels - genetics | Retinitis Pigmentosa - genetics | Male | Leber Congenital Amaurosis - genetics | Spain | Exome - genetics | ATP-Binding Cassette Transporters - genetics | Usher Syndromes - genetics | Pedigree | Adaptor Proteins, Signal Transducing - genetics | Nicotinamide-Nucleotide Adenylyltransferase - genetics | Female | Eye Proteins - genetics | Retinal Dystrophies - genetics | Genetic aspects | Genetic disorders | Disease transmission | Nucleotide sequencing | Genes | DNA sequencing | USH2A protein | Retinitis pigmentosa | Retina | Identification | Genomes | Hybridization | Medical diagnosis | Gene sequencing | Genetics | Diagnosis | Genotypes | Deoxyribonucleic acid--DNA | Visually handicapped people | Data analysis | Congenital diseases | Data processing | Patients | Hereditary diseases | Studies | Blindness | Acetylcholine receptors | Diagnostic systems | Retinitis | Mutation | Dystrophy | Genetic testing | Cost analysis | Index Medicus | Deoxyribonucleic acid | DNA
Journal Article
by Hoggart, Clive J and Venturini, Giulia and Mangino, Massimo and Gomez, Felicia and Ascari, Giulia and Zhao, Jing Hua and Teumer, Alexander and Winkler, Thomas W and Tšernikova, Natalia and Luan, Jian'an and Mihailov, Evelin and Ehret, Georg B and Zhang, Weihua and Lamparter, David and Esko, Tõnu and Macé, Aurelien and Rüeger, Sina and Bochud, Pierre-Yves and Barcella, Matteo and Dauvilliers, Yves and Benyamin, Beben and Evans, David M and Hayward, Caroline and Lopez, Mary F and Franke, Lude and Russo, Alessia and Heid, Iris M and Salvi, Erika and Vendantam, Sailaja and Arking, Dan E and Boerwinkle, Eric and Chambers, John C and Fiorito, Giovanni and Grallert, Harald and Guarrera, Simonetta and Homuth, Georg and Huffman, Jennifer E and Porteous, David and Moradpour, Darius and Iranzo, Alex and Hebebrand, Johannes and Kemp, John P and Lammers, Gert J and Aubert, Vincent and Heim, Markus H and Martin, Nicholas G and Montgomery, Grant W and Peraita-Aados, Rosa and Santamaria, Joan and Negro, Francesco and Schmidt, Carsten O and Scott, Robert A and Spector, Tim D and Strauch, Konstantin and Völzke, Henry and Wareham, Nicholas J and Yuan, Wei and Bell, Jordana T and Chakravarti, Aravinda and Kooner, Jaspal S and Peters, Annette and Matullo, Giuseppe and Wallaschofski, Henri and Whitfield, John B and Paccaud, Fred and Vollenweider, Peter and Bergmann, Sven and Beckmann, Jacques S and Tafti, Mehdi and Hastie, Nicholas D and Cusi, Daniele and Bochud, Murielle and Frayling, Timothy M and Metspalu, Anes and Jarvelin, Marjo-Riitta and Scherag, Ané and Smith, George Davey and Borecki, Ingrid B and Rousson, Valentin and Hirschhorn, Joel N and Rivolta, Carlo and Loos, Ruth J. F and Kutalik, Zoltán and de Bakker, P and Bültmann, U and Geleijnse, M and Harst, P. v d and Koppelman, G and Rosmalen, J. G. M and van Rossum, L and Smidt, H and Swertz, M. A and Stolk, R. P and Alizadeh, B and de Boer, R and Boezen, H. M and Bruinenberg, M and Franke, L and van der Harst, P and Hillege, H and ... and LifeLines Cohort Study and GIANT Consortium and Generation Scotland Consortium and LifeLines Cohort study and The LifeLines Cohort study and The GIANT Consortium
PLoS genetics, ISSN 1553-7390, 2014, Volume 10, Issue 7, pp. e1004508 - 12
Journal Article