X
Search Filters
Format Format
Subjects Subjects
Subjects Subjects
X
Sort by Item Count (A-Z)
Filter by Count
humans (126) 126
genetics & heredity (96) 96
female (78) 78
male (73) 73
mutation (41) 41
index medicus (36) 36
child (34) 34
child, preschool (34) 34
syndrome (33) 33
adult (30) 30
genetics (30) 30
abnormalities, multiple - genetics (28) 28
phenotype (28) 28
pedigree (25) 25
gene (23) 23
infant (22) 22
infant, newborn (21) 21
animals (20) 20
biochemistry & molecular biology (20) 20
adolescent (19) 19
article (16) 16
base sequence (16) 16
chromosome mapping (16) 16
molecular sequence data (16) 16
amino acid sequence (15) 15
genetic aspects (15) 15
human genetics (15) 15
research (15) 15
mutations (14) 14
pregnancy (14) 14
mice (13) 13
middle aged (13) 13
facies (12) 12
gene deletion (12) 12
medical genetics (12) 12
mental-retardation (11) 11
dna mutational analysis (10) 10
face - abnormalities (10) 10
genetic disorders (10) 10
in situ hybridization, fluorescence (10) 10
intellectual disability - genetics (10) 10
williams syndrome - genetics (10) 10
abnormalities, multiple - diagnosis (9) 9
dna-binding proteins - genetics (9) 9
gene mutations (9) 9
genes (9) 9
genes, recessive (9) 9
k km genetics & heredity (9) 9
mental retardation (9) 9
polymerase chain reaction (9) 9
family (8) 8
genotype (8) 8
medicine, general & internal (8) 8
mutation - genetics (8) 8
proteins (8) 8
report (8) 8
sequence homology, amino acid (8) 8
craniofacial abnormalities - genetics (7) 7
deletion (7) 7
dna (7) 7
epilepsy (7) 7
gene expression (7) 7
genetic linkage (7) 7
point mutation (7) 7
prenatal diagnosis (7) 7
x chromosome (7) 7
abnormalities, multiple - pathology (6) 6
children (6) 6
chromosomes (6) 6
developmental disabilities - genetics (6) 6
diagnosis (6) 6
elastin - genetics (6) 6
eye abnormalities - genetics (6) 6
fetus (6) 6
genes, dominant (6) 6
genomics (6) 6
intellectual disability (6) 6
medicine (6) 6
pediatrics (6) 6
sequence analysis, dna (6) 6
transcription factors (6) 6
translocation (6) 6
young adult (6) 6
abnormalities (5) 5
analysis (5) 5
care and treatment (5) 5
chromosome deletion (5) 5
chromosomes, human, pair 7 (5) 5
congenital defects (5) 5
development (5) 5
developmental disabilities (5) 5
disorders (5) 5
genetic markers (5) 5
genetic testing (5) 5
hand deformities, congenital - genetics (5) 5
heart defects, congenital - genetics (5) 5
hemizygosity (5) 5
hospitals (5) 5
hydrocephalus - genetics (5) 5
mosaicism (5) 5
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


European Journal of Human Genetics, ISSN 1018-4813, 12/2017, Volume 25, Issue 2, pp. S33 - S34
Journal Article
BMJ, ISSN 1756-1833, 8/2016, Volume 354, p. i4637
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
Journal Article
Nature Genetics, ISSN 1061-4036, 2016, Volume 48, Issue 7, pp. 777 - 784
Journal Article
by Ansari, Morad and Poke, Gemma and Ferry, Quentin and Williamson, Kathleen and Aldridge, Roland and Meynert, Alison M and Bengani, Hemant and Chan, Cheng Yee and Kayserili, Hülya and Avci, Şahin and Hennekam, Raoul C M and Lampe, Anne K and Redeker, Egbert and Homfray, Tessa and Ross, Alison and Falkenberg Smeland, Marie and Mansour, Sahar and Parker, Michael J and Cook, Jacqueline A and Splitt, Miranda and Fisher, Richard B and Fryer, Alan and Magee, Alex C and Wilkie, Andrew and Barnicoat, Angela and Brady, Angela F and Cooper, Nicola S and Mercer, Catherine and Deshpande, Charu and Bennett, Christopher P and Pilz, Daniela T and Ruddy, Deborah and Cilliers, Deirdre and Johnson, Diana S and Josifova, Dragana and Rosser, Elisabeth and Thompson, Elizabeth M and Wakeling, Emma and Kinning, Esther and Stewart, Fiona and Flinter, Frances and Girisha, Katta M and Cox, Helen and Firth, Helen V and Kingston, Helen and Wee, Jamie S and Hurst, Jane A and Clayton-Smith, Jill and Tolmie, John and Vogt, Julie and Tatton–Brown, Katrina and Chandler, Kate and Prescott, Katrina and Wilson, Louise and Behnam, Mahdiyeh and McEntagart, Meriel and Davidson, Rosemarie and Lynch, Sally-Ann and Sisodiya, Sanjay and Mehta, Sarju G and McKee, Shane A and Mohammed, Shehla and Holden, Simon and Park, Soo-Mi and Holder, Susan E and Harrison, Victoria and McConnell, Vivienne and Lam, Wayne K and Green, Andrew J and Donnai, Dian and Bitner-Glindzicz, Maria and Donnelly, Deirdre E and Nellåker, Christoffer and Taylor, Martin S and FitzPatrick, David R
Journal of Medical Genetics, ISSN 0022-2593, 10/2014, Volume 51, Issue 10, pp. 659 - 668
Journal Article
Nature genetics, ISSN 1061-4036, 2009, Volume 41, Issue 1, pp. 95 - 100
Journal Article
Journal of Medical Genetics, ISSN 0022-2593, 07/2007, Volume 44, Issue 7, pp. 480 - 480
  Many formal tributes have been made in print enumerating Bob Gorlin's major contributions to medicine and dentistry, listing his academic appointments, his... 
GENETICS & HEREDITY | Biography | Influence | Geneticists | Personalities | Human genetics | Patients | Dentistry | Obituary
Journal Article
Journal of Clinical Investigation, ISSN 0021-9738, 09/2015, Volume 125, Issue 9, pp. 3585 - 3599
Journal Article
European Journal of Human Genetics, ISSN 1018-4813, 04/2012, Volume 20, Issue 4, pp. 381 - 388
Journal Article