X
Search Filters
Format Format
Format Format
X
Sort by Item Count (A-Z)
Filter by Count
Journal Article (128) 128
Newspaper Article (57) 57
Publication (27) 27
Book / eBook (6) 6
Book Review (6) 6
Conference Proceeding (2) 2
Reference (1) 1
more...
Subjects Subjects
Subjects Subjects
X
Sort by Item Count (A-Z)
Filter by Count
index medicus (65) 65
humans (63) 63
female (51) 51
male (50) 50
genetics & heredity (40) 40
adult (26) 26
mutation (25) 25
genetic aspects (22) 22
middle aged (22) 22
phenotype (21) 21
article (20) 20
adolescent (17) 17
genetics (17) 17
genes (16) 16
child (15) 15
child, preschool (15) 15
research (15) 15
aged (14) 14
mutations (13) 13
polymorphism, single nucleotide (12) 12
genome-wide association study (11) 11
genotype (11) 11
medical and health sciences (11) 11
medicin och hälsovetenskap (11) 11
risk factors (11) 11
animals (9) 9
biochemistry & molecular biology (9) 9
diagnosis (9) 9
gene expression (9) 9
intellectual disability (9) 9
autism (8) 8
cohort studies (8) 8
disease (8) 8
hospitals (8) 8
syndrome (8) 8
young adult (8) 8
analysis (7) 7
development and progression (7) 7
genetic predisposition to disease (7) 7
genomes (7) 7
infant (7) 7
medical research (7) 7
medicine (7) 7
multidisciplinary sciences (7) 7
phenotypes (7) 7
risk (7) 7
abridged index medicus (6) 6
aged, 80 and over (6) 6
gene (6) 6
genetic research (6) 6
health aspects (6) 6
neurodevelopmental disorders (6) 6
patients (6) 6
pediatrics (6) 6
physiological aspects (6) 6
proteins (6) 6
studies (6) 6
abnormalities, multiple - genetics (5) 5
de-novo mutations (5) 5
disease models, animal (5) 5
dogs (5) 5
epilepsy (5) 5
genome-wide association (5) 5
infant, newborn (5) 5
insulin (5) 5
intervertebral disc (5) 5
missense mutation (5) 5
mutation - genetics (5) 5
orthopedics (5) 5
prevalence (5) 5
surgery (5) 5
variants (5) 5
african americans (4) 4
age (4) 4
animal-models (4) 4
australia (4) 4
cancer (4) 4
care and treatment (4) 4
case-control studies (4) 4
chromosome deletion (4) 4
chronic pain (4) 4
clinical neurology (4) 4
developmental disabilities - genetics (4) 4
diabetes (4) 4
diabetes mellitus, type 2 (4) 4
diabetes mellitus, type 2 - genetics (4) 4
diagram consortium (4) 4
dna-binding proteins - genetics (4) 4
emergency medicine (4) 4
endocrinology & metabolism (4) 4
epidemiology (4) 4
european continental ancestry group (4) 4
expression (4) 4
family (4) 4
gene mutations (4) 4
genetic association studies (4) 4
genetic disorders (4) 4
genetic variation (4) 4
genomics (4) 4
genotypes (4) 4
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


by McRae, Jeremy F and Clayton, Stephen and Fitzgerald, Tomas W and Kaplanis, Joanna and Prigmore, Elena and Rajan, Diana and Sifrim, Alejandro and Aitken, Stuart and Akawi, Nadia and Alvi, Mohsan and Ambridge, Kirsty and Barrett, Daniel M and Bayzetinova, Tanya and Jones, Philip and Jones, Wendy D and King, Daniel and Krishnappa, Netravathi and Mason, Laura E and Singh, Tarjinder and Tivey, Adrian R and Ahmed, Munaza and Anjum, Uruj and Archer, Hayley and Armstrong, Ruth and Awada, Jana and Balasubramanian, Meena and Banka, Siddharth and Baralle, Diana and Barnicoat, Angela and Batstone, Paul and Baty, David and Bennett, Chris and Berg, Jonathan and Bernhard, Birgitta and Bevan, A. Paul and Bitner-Glindzicz, Maria and Blair, Edward and Blyth, Moira and Bohanna, David and Bourdon, Louise and Bourn, David and Bradley, Lisa and Brady, Angela and Brent, Simon and Brewer, Carole and Brunstrom, Kate and Bunyan, David J and Burn, John and Canham, Natalie and Castle, Bruce and Chandler, Kate and Chatzimichali, Elena and Cilliers, Deirdre and Clarke, Angus and Clasper, Susan and Clayton-Smith, Jill and Clowes, Virginia and Coates, Andrea and Cole, Trevor and Colgiu, Irina and Collins, Amanda and Collinson, Morag N and Connell, Fiona and Cooper, Nicola and Cox, Helen and Cresswell, Lara and Cross, Gareth and Crow, Yanick and D'Alessandro, Mariella and Dabir, Tabib and Davidson, Rosemarie and Davies, Sally and De Vries, Dylan and Dean, John and Deshpande, Charu and Devlin, Gemma and Dixit, Abhijit and Dobbie, Angus and Donaldson, Alan and Donnai, Dian and Donnelly, Deirdre and Donnelly, Carina and Douglas, Angela and Douzgou, Sofia and Duncan, Alexis and Eason, Jacqueline and Ellard, Sian and Ellis, Ian and Elmslie, Frances and Evans, Karenza and Everest, Sarah and Fendick, Tina and Fisher, Richard and Flinter, Frances and Foulds, Nicola and Fry, Andrew and Fryer, Alan and Gardiner, Carol and Gaunt, Lorraine and Ghali, Neeti and ... and Deciphering Developmental Disorders Study
Nature, ISSN 0028-0836, 02/2017, Volume 542, Issue 7642, pp. 433 - 438
The genomes of individuals with severe, undiagnosed developmental disorders are enriched in damaging de novo mutations (DNMs) in developmentally important... 
INTELLECTUAL DISABILITY | METAANALYSIS | VARIANTS | GENETICS | HEART-DEFECTS | MULTIDISCIPLINARY SCIENCES | GENES | SEQUENCE | FRAMEWORK | DISCOVERY | GENOME | Prevalence | Humans | Middle Aged | Parents | Male | Mi-2 Nucleosome Remodeling and Deacetylase Complex - genetics | Developmental Disabilities - genetics | Casein Kinase II - genetics | Autoantigens - genetics | Young Adult | ras GTPase-Activating Proteins - genetics | Adult | Female | Child | CDC2 Protein Kinase - genetics | Histone-Lysine N-Methyltransferase - genetics | Repressor Proteins - genetics | Sex Characteristics | Transcription Factors - genetics | DNA-Binding Proteins - genetics | Mutation - genetics | Nerve Tissue Proteins - genetics | Sequence Analysis, DNA | Homeodomain Proteins - genetics | DEAD-box RNA Helicases - genetics | Exome - genetics | Phenotype | Myeloid-Lymphoid Leukemia Protein - genetics | Adolescent | Heredity - genetics | Protein Phosphatase 2C - genetics | Cohort Studies | Child development deviations | Genetic aspects | Genetic disorders | Developmental disabilities | Distribution | Genes | Families & family life | Births | Genomes | Mutation | Causality | Estimates | Age | TRIO | MYT1L | EHMT1 | HNRNPU | SUV420H1 | COL4A3BP | SYNGAP1 | PPP2R1A | POGZ | EP300 | KCNH1 | SCN1A | MEF2C | CDKL5 | CSNK2A1 | DYRK1A | CASK | ALG13 | FOXP1 | KAT6B | TBL1XR1 | KAT6A | SCN8A | KCNQ2 | EEF1A2 | KCNQ3 | ADNP | PhenIcons | SET | KMT2A | ANKRD11 | STXBP1 | FOXG1 | ZC4H2 | ITPR1 | De novo mutation | Seizures | ZBTB18 | CREBBP | SMAD4 | PDHA1 | IQSEC2 | AUTS2 | BCL11A | BRAF | SMARCA2 | GRIN2B | MED13L | GNAO1 | CNOT3 | TCF4 | SCN2A | CDK13 | GABRB3 | SETD5 | KDM5B | Developmental Disease | DDX3X | CHD8 | PTEN | CHD4 | TCF20 | CTCF | CHD2 | WDR45 | SLC6A1 | MECP2 | CHAMP1 | KIF1A | Average Faces | MSL3 | PPP2R5D | SMC1A | ARID1B | DNM1 | CNKSR2 | PACS1 | WAC | ZMYND11 | AHDC1 | NFIX | SATB2 | HDAC8 | PPM1D | GNAI1 | PURA | PUF60 | NSD1 | Intellectual Disability | SLC35A2 | DYNC1H1 | NAA10 | USP9X | PTPN11 | GATAD2B | ASXL1 | KANSL1 | ASXL3 | CTNNB1 | QRICH1
Journal Article
by Newton-Cheh, Christopher and Johnson, Toby and Gateva, Vesela and Tobin, Martin D and Bochud, Murielle and Coin, Lachlan and Najjar, Samer S and Zhao, Jing Hua and Heath, Simon C and Eyheramendy, Susana and Papadakis, Konstantinos and Voight, Benjamin F and Scott, Laura J and Zhang, Feng and Farrall, Martin and Tanaka, Toshiko and Wallace, Chris and Chambers, John C and Khaw, Kay-Tee and Nilsson, Peter and van der Harst, Pim and Polidoro, Silvia and Grobbee, Diederick E and Onland-Moret, N. Charlotte and Bots, Michiel L and Wain, Louise V and Elliott, Katherine S and Teumer, Alexander and Luan, Jian'an and Lucas, Gavin and Kuusisto, Johanna and Burton, Paul R and Hadley, David and McArdle, Wendy L and Brown, Morris and Dominiczak, Anna and Newhouse, Stephen J and Samani, Nilesh J and Webster, John and Zeggini, Eleftheria and Beckmann, Jacques S and Bergmann, Sven and Lim, Noha and Song, Kijoung and Vollenweider, Peter and Waeber, Gerard and Waterworth, Dawn M and Yuan, Xin and Groop, Leif and Orho-Melander, Marju and Allione, Alessana and Di Gregorio, Alessana and Guarrera, Simonetta and Panico, Salvatore and Ricceri, Fulvio and Romanazzi, Valeria and Sacerdote, Carlotta and Vineis, Paolo and Barroso, Ines and Sandhu, Manjinder S and Luben, Robert N and Crawford, Gabriel J and Jousilahti, Pekka and Perola, Markus and Boehnke, Michael and Bonnycastle, Lori L and Collins, Francis S and Jackson, Anne U and Mohlke, Karen L and Stringham, Heather M and Valle, Timo T and Willer, Cristen J and Bergman, Richard N and Morken, Mario A and Doering, Angela and Gieger, Christian and Illig, Thomas and Meitinger, Thomas and Org, Elin and Pfeufer, Arne and Wichmann, H. Erich and Kathiresan, Sekar and Marrugat, Jaume and O'Donnell, Christopher J and Schwartz, Stephen M and Siscovick, David S and Subirana, Isaac and Freimer, Nelson B and Hartikainen, Anna-Liisa and McCarthy, Mark I and O'Reilly, Paul F and Peltonen, Leena and Pouta, Anneli and de Jong, Paul E and Snieder, Harold and van Gilst, Wiek H and Clarke, Robert and Goel, Anuj and Hamsten, Anders and Peden, John F and ... and Wellcome Trust Case Control Consor and Wellcome Trust Case Control Consortium and Medicinska fakulteten and Medicinska och farmaceutiska vetenskapsområdet and Molekylär medicin and Uppsala universitet and Institutionen för medicinska vetenskaper
Nature Genetics, ISSN 1061-4036, 06/2009, Volume 41, Issue 6, pp. 666 - 676
Journal Article
Journal of the National Cancer Institute, ISSN 0027-8874, 11/2013, Volume 105, Issue 21, p. 1595
  Cowden syndrome (OMIM No. 158350) and Bannayan-Riley-Ruvalcaba syndrome (BRRS) (OMIM No. 153480) are autosomal dominant conditions described before the... 
Systematic review | Genetic testing | Mutation | Autoimmune diseases | Health education
Journal Article
Conservation Biology, ISSN 0888-8892, 08/2019, Volume 33, Issue 4, pp. 760 - 768
Journal Article
by Chambers, John C and Zhang, Weihua and Sehmi, Joban and Li, Xinzhong and Wass, Mark N and van der Harst, Pim and Holm, Hilma and Sanna, Serena and Kavousi, Maryam and Baumeister, Sebastian E and Coin, Lachlan J and Deng, Guohong and Gieger, Christian and Heard-Costa, Nancy L and Hottenga, Jouke-Jan and Kühnel, Brigitte and Kumar, Vinod and Lagou, Vasiliki and Liang, Liming and Luan, Jian'an and Vidal, Peo Marques and Mateo Leach, Irene and O'Reilly, Paul F and Peden, John F and Rahmioglu, Nilufer and Soininen, Pasi and Speliotes, Elizabeth K and Yuan, Xin and Thorleifsson, Gudmar and Alizadeh, Behrooz Z and Atwood, Larry D and Borecki, Ingrid B and Brown, Morris J and Charoen, Pimphen and Cucca, Francesco and Das, Debashish and de Geus, Eco J. C and Dixon, Anna L and Döring, Angela and Ehret, Georg and Eyjolfsson, Gudmundur I and Farrall, Martin and Forouhi, Nita G and Frieich, Nele and Goessling, Wolfram and Gudbjartsson, Daniel F and Harris, Tamara B and Hartikainen, Anna-Liisa and Heath, Simon and Hirschfield, Gideon M and Hofman, Albert and Homuth, Georg and Hyppönen, Elina and Janssen, Harry L. A and Johnson, Toby and Kangas, Antti J and Kema, Ido P and Kühn, Jens P and Lai, Sana and Lathrop, Mark and Lerch, Markus M and Li, Yun and Liang, T. Jake and Lin, Jing-Ping and Loos, Ruth J. F and Martin, Nicholas G and Moffatt, Miriam F and Montgomery, Grant W and Munroe, Patricia B and Musunuru, Kiran and Nakamura, Yusuke and O'Donnell, Christopher J and Olafsson, Isleifur and Penninx, Brenda W and Pouta, Anneli and Prins, Bram P and Prokopenko, Inga and Puls, Ralf and Ruokonen, Aimo and Savolainen, Markku J and Schlessinger, David and Schouten, Jeoffrey N. L and Seedorf, Udo and Sen-Chowdhry, Srijita and Siminovitch, Katherine A and Smit, Johannes H and Spector, Timothy D and Tan, Wenting and Teslovich, Tanya M and Tukiainen, Taru and Uitterlinden, Ane G and van der Klauw, Melanie M and Vasan, Ramachanan S and Wallace, Chris and Wallaschofski, Henri and Wichmann, H.-Erich and Willemsen, Gonneke and Würtz, Peter and Xu, Chun and Yerges-Armstrong, Laura M and ... and Meta-Anal Glucose Insulin-Related and Diabet Genetics Replication and Genetic Invest Anthropometric and Genetics Liver Dis GOLD Consortium and Global Lipids Genetics Consortium and Alcohol Genome-wide Assoc AlcGen and Int Consortium Blood Pressure ICBP and Meta-analyses of Glucose and Insulin-Related Traits Consortium (MAGIC) and Alcohol Genome-wide Association (AlcGen) Consortium and Genetic Investigation of Anthropometric Traits (GIANT) Consortium and Diabetes Genetics Replication and Meta-analyses (DIAGRAM+) Study and International Consortium for Blood Pressure (ICBP-GWAS) and Genetics of Liver Disease (GOLD) Consortium
Nature genetics, ISSN 1061-4036, 2011, Volume 43, Issue 11, pp. 1131 - U129
Journal Article