X
Search Filters
Format Format
Format Format
X
Sort by Item Count (A-Z)
Filter by Count
Journal Article (107) 107
Publication (14) 14
Patent (13) 13
Book Review (1) 1
Conference Proceeding (1) 1
Newspaper Article (1) 1
Report (1) 1
more...
Subjects Subjects
Subjects Subjects
X
Sort by Item Count (A-Z)
Filter by Count
humans (55) 55
index medicus (36) 36
female (22) 22
male (22) 22
mutation (22) 22
genetics & heredity (19) 19
biochemistry (17) 17
proteins (15) 15
transcription factors - genetics (15) 15
animals (14) 14
microbiology (14) 14
beer (12) 12
biochemistry & molecular biology (12) 12
chemistry (12) 12
enzymology (12) 12
metallurgy (12) 12
mutation or genetic engineering (12) 12
phosphorylation (12) 12
spirits (12) 12
transcription factors - metabolism (12) 12
vinegar (12) 12
wine (12) 12
child (11) 11
signal transduction (11) 11
adolescent (10) 10
child, preschool (10) 10
diagnosis (10) 10
genetics (10) 10
hela cells (10) 10
multidisciplinary sciences (10) 10
nuclear proteins - genetics (10) 10
research (10) 10
expression (9) 9
genetic aspects (9) 9
human necessities (9) 9
hygiene (9) 9
medical or veterinary science (9) 9
medicine (9) 9
mice (9) 9
microtubule proteins - genetics (9) 9
preparations for medical, dental, or toilet purposes (9) 9
specific therapeutic activity of chemical compounds ormedicinal preparations (9) 9
analysis (8) 8
blotting, western (8) 8
compositions or test papers therefor (8) 8
condition-responsive control in microbiological orenzymological processes (8) 8
gene expression (8) 8
infant (8) 8
investigating or analysing materials by determining theirchemical or physical properties (8) 8
measuring (8) 8
measuring or testing processes involving enzymes, nucleicacids or microorganisms (8) 8
nuclear proteins - metabolism (8) 8
phenotype (8) 8
physics (8) 8
processes of preparing such compositions (8) 8
testing (8) 8
cancer (7) 7
cell line, tumor (7) 7
genes (7) 7
health aspects (7) 7
microtubule proteins - metabolism (7) 7
molecular sequence data (7) 7
mutations (7) 7
neurons (7) 7
science (7) 7
cell biology (6) 6
children (6) 6
fluorescent antibody technique (6) 6
ligases (6) 6
molecular biology (6) 6
oncology (6) 6
pedigree (6) 6
research article (6) 6
reverse transcriptase polymerase chain reaction (6) 6
risk factors (6) 6
rna, messenger - genetics (6) 6
syndrome (6) 6
adult (5) 5
base sequence (5) 5
brain (5) 5
cells, cultured (5) 5
deoxyribonucleic acid--dna (5) 5
disease (5) 5
dna mutational analysis (5) 5
embryonic structures (5) 5
g/bbb syndrome (5) 5
gene mutations (5) 5
genomes (5) 5
infant, newborn (5) 5
infectious diseases (5) 5
influenza (5) 5
influenza, human - diagnosis (5) 5
influenza, human - virology (5) 5
kinases (5) 5
macromolecular substances (5) 5
microtubules - metabolism (5) 5
mid1 (5) 5
nerve tissue proteins - genetics (5) 5
nuclear proteins (5) 5
opitz-syndrome (5) 5
more...
Language Language
Publication Date Publication Date
Click on a bar to filter by decade
Slide to change publication date range


Molecular Cancer, ISSN 1476-4598, 06/2014, Volume 13, Issue 1, p. 146
Journal Article
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
Proceedings of the National Academy of Sciences of the United States of America, ISSN 0027-8424, 12/2010, Volume 107, Issue 50, pp. 21830 - 21835
Journal Article
Journal Article
The Journal of Pathology, ISSN 0022-3417, 10/2017, Volume 243, Issue 2, pp. 242 - 254
Journal Article
Proceedings of the National Academy of Sciences of the United States of America, ISSN 0027-8424, 5/2011, Volume 108, Issue 21, pp. 8680 - 8685
Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 07/2019, Volume 179, Issue 7, pp. 1214 - 1225
The S‐Phase Cyclin A Associated Protein In The ER (SCAPER) gene is a ubiquitously expressed gene with unknown function in the brain. Recently, biallelic SCAPER... 
SCAPER | intellectual disability | CELL-CYCLE | GENETICS & HEREDITY | Genetic research | Codon | Neurons | Analysis | Genes | Clonal deletion | Nonsense mutation | Intellectual disabilities | Retinitis pigmentosa | Exons | Cyclin A | Cortex | Neural stem cells | Stop codon | Retinitis | Glutamatergic transmission | Gene deletion
Journal Article