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1. Lives of Jonathan Edwards and David Brainerd
by Miller, Samuel, 1769-1850 and Peabody, William Bourn Oliver, 1799-1847
1854, Library of American biography, Volume 8, x, 373 p., [2] leaves of plates
Edwards, Jonathan, 1703-1758 | Brainerd, David, 1718-1747 | Clergy | Congregational churches
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2. Lives of Sir William Phips, Israel Putnam, Lucretia Maria Davidson, and David Rittenhouse
by Bowen, Francis, 1811-1890 and Peabody, William Bourn Oliver, 1799-1847 and Renwick, James, 1792-1863
1854, Library of American biography, Volume 7, xii, 398 p., [1] leaf of plates
Putnam, Israel, 1718-1790 | Rittenhouse, David, 1732-1796 | Davidson, Lucretia Maria, 1808-1825 | United States | Phips, William, Sir, 1651-1695
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3. Full Text Bi-allelic Loss-of-Function CACNA1B Mutations in Progressive Epilepsy-Dyskinesia
by Gorman, Kathleen M and Meyer, Esther and Grozeva, Detelina and Spinelli, Egidio and Carss, Keren J and Reich, Adi and Schneider, Amy L and Simpson, Michael A and Debelle, Geoff D and Wassmer, Evangeline and Morton, Jenny and Sieciechowicz, Diana and King, Mary D and Cross, J. Helen and Mefford, Heather C and Scheffer, Ingrid E and Haack, Tobias B and Clayton, Stephen and Prigmore, Elena and Aitken, Stuart and Akawi, Nadia and Alvi, Mohsan and Barrett, Daniel M and Bayzetinova, Tanya and Jones, Philip and King, Daniel and Krishnappa, Netravathi and Singh, Tarjinder and Tivey, Adrian R and Anjum, Uruj and Archer, Hayley and Awada, Jana and Balasubramanian, Meena and Baralle, Diana and Barnicoat, Angela and Baty, David and Bennett, Chris and Bernhard, Birgitta and Bevan, A. Paul and Blyth, Moira and Bohanna, David and Bourdon, Louise and Brady, Angela and Brent, Simon and Brewer, Carole and Brunstrom, Kate and Bunyan, David J and Burn, John and Castle, Bruce and Chandler, Kate and Chatzimichali, Elena 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 Cox, Helen and Cresswell, Lara and Cross, Gareth and Crow, Yanick and D’Alessandro, Mariella and Davidson, Rosemarie and de Vries, Dylan and Deshpande, Charu and Donaldson, Alan and Donnai, Dian and Donnelly, Deirdre and Douzgou, Sofia and Duncan, Alexis and Eason, Jacqueline and Ellis, Ian and Evans, Karenza and Everest, Sarah and Fendick, Tina and Fisher, Richard and Flinter, Frances and Fry, Andrew and Fryer, Alan and Gardiner, Carol and Gaunt, Lorraine and Ghali, Neeti and Gibbons, Richard and Goodship, Judith and Goudie, David and Gray, Emma and Green, Andrew and Harrison, Rachel and Harrison, Lucy and Harrison, Victoria and Hawkins, Rose and He, Liu and Hellens, Stephen and Henderson, Alex and Hewitt, Sarah and Hildyard, Lucy and ... and Deciphering Developmental Disorders Study and NIHR BioResource and UK10K Consortium and Deciphering Dev Disorders Study
American journal of human genetics, ISSN 0002-9297, 05/2019, Volume 104, Issue 5, pp. 948 - 956
epilepsy | CACNA1B | epilepsy-dyskinesia | developmental and epileptic encephalopathy (DEE) | yes | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Calcium Channels, N-Type - genetics | Calcium - metabolism | Humans | Child, Preschool | Dyskinesias - pathology | Infant | Male | Loss of Heterozygosity | Synaptic Transmission | Pedigree | Adolescent | Epilepsy - genetics | Female | Mutation | Child | Epilepsy - pathology | Dyskinesias - genetics | Allelomorphism | Gene mutations | Epilepsy | Development and progression | Genetic aspects | Research | Risk factors | Index Medicus | Report
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4. Full Text Mainstreaming genomic medicine
by Bourn, David
The Lancet (British edition), ISSN 0140-6736, 09/2017, Volume 390, Issue 10101, pp. 1486 - 1486
Medicine, General & Internal | Life Sciences & Biomedicine | General & Internal Medicine | Science & Technology | Prejudice | Health Policy | Genomics | Mainstreaming (Education) | Precision medicine | Genomes | Index Medicus | Abridged Index Medicus
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5. Education and social change
: connecting local and global perspectives
by Elliott, Geoffrey, Dr and Fourali, Chahid and Issler, Sally
2010, ISBN 0826444091, xviii, 314 p. cm.
Education and globalization | Social aspects | Education | Social change
Book
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6. Full Text Prevalence and architecture of de novo mutations in developmental disorders
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 (London), ISSN 0028-0836, 02/2017, Volume 542, Issue 7642, pp. 433 - 438
Science & Technology - Other Topics | Multidisciplinary Sciences | Science & Technology | 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 | Index Medicus | 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
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7. Education and social change
: connecting local and global perspectives
by Elliott, Geoffrey, Dr and Fourali, Chahid and Issler, Sally
2010, ISBN 0826444091, xviii, 314 p. cm.
Education and globalization | Social aspects | Education | Social change
Book
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8. Full Text Histone Lysine Methylases and Demethylases in the Landscape of Human Developmental Disorders
by Faundes, Víctor and Newman, William G and Bernardini, Laura and Canham, Natalie and Clayton-Smith, Jill and Dallapiccola, Bruno and Davies, Sally J and Demos, Michelle K and Goldman, Amy and Gill, Harinder and Horton, Rachel and Kerr, Bronwyn and Kumar, Dhavendra and Lehman, Anna and McKee, Shane and Morton, Jenny and Parker, Michael J and Rankin, Julia and Robertson, Lisa and Temple, I. Karen and Adam, Shelin and du Souich, Christèle and Elliott, Alison M and Lehman, Anna and Mwenifumbo, Jill and Nelson, Tanya N and van Karnebeek, Clara and Friedman, Jan M and 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 ... and Clinical Assessment of the Utility of Sequencing and Evaluation as a Service (CAUSES) Study and The Deciphering Developmental Disorders (DDD) Study and Clin Assessment Utility Sequencin and Deciphering Dev Disorders DD and Deciphering Developmental Disorders (DDD) Study
American journal of human genetics, ISSN 0002-9297, 01/2018, Volume 102, Issue 1, pp. 175 - 187
KDM5B | histone lysine methyltransferase | KMT2C | histone lysine demethylase | KMT2B | Developmental disorders | chromatin remodeling | KMT5B | ASH1L | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Histone-Lysine N-Methyltransferase - genetics | Developmental Disabilities - enzymology | Humans | Adolescent | Child, Preschool | Female | Male | Developmental Disabilities - genetics | Mutation | Child | Histone Demethylases - genetics | Haploinsufficiency | Methyltransferases | Lysine | Analysis | Genomics | Cytogenetics | Methylation | Pediatric neurology | Index Medicus | Report
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9. Full Text Evidence for 28 genetic disorders discovered by combining healthcare and research data
by Kaplanis, Joanna and Samocha, Kaitlin E and Wiel, Laurens and Zhang, Zhancheng and Arvai, Kevin J and Eberhardt, Ruth Y and Gallone, Giuseppe and Lelieveld, Stefan H and Martin, Hilary C and McRae, Jeremy F and Short, Patrick J and Torene, Rebecca I and de Boer, Elke and Danecek, Petr and Gardner, Eugene J and Huang, Ni and Lord, Jenny and Martincorena, Inigo and Pfundt, Rolph and Reijnders, Margot R. F and Yeung, Alison and Yntema, Helger G and Vissers, Lisenka E. L. M and Juusola, Jane and Wright, Caroline F and Brunner, Han G and Firth, Helen V and FitzPatrick, David R and Barrett, Jeffrey C and Hurles, Matthew E and Gilissen, Christian and Retterer, Kyle and Deciphering Dev Disorders and Deciphering Developmental Disorders Study
Nature (London), ISSN 0028-0836, 10/2020, Volume 586, Issue 7831, pp. 757 - 3
Science & Technology - Other Topics | Multidisciplinary Sciences | Science & Technology | Discovery and exploration | Medical research | Usage | Genetic disorders | Analysis | Medicine, Experimental | Medical statistics | Evidence-based medicine | Proteins | Health care | Genotype & phenotype | Genes | Genomics | Disorders | Gender differences | Diagnostic systems | Mutation | Statistical tests | Index Medicus
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10. Full Text CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language (vol 9, 4619, 2018)
by Blok, Lot Snijders and Rousseau, Justine and Twist, Joanna and Ehresmann, Sophie and Takaku, Motoki and Venselaar, Hanka and Rodan, Lance H and Nowak, Catherine B and Douglas, Jessica and Swoboda, Kathryn J and Steeves, Marcie A and Sahai, Inderneel and Stumpel, Connie T. R. M and Stegmann, Alexander P. A and Wheeler, Patricia and Willing, Marcia and Fiala, Elise and Kochhar, Aaina and Gibson, William T and Cohen, Ana S. A and Agbahovbe, Ruky and Innes, A. Micheil and Au, P. Y. Billie and Rankin, Julia and Anderson, Ilse J and Skinner, Steven A and Louie, Raymond J and Warren, Hannah E and Afenjar, Alexandra and Keren, Boris and Nava, Caroline and Buratti, Julien and Isapof, Arnaud and Rodriguez, Diana and Lewandowski, Raymond and Propst, Jennifer and van Essen, Ton and Choi, Murim and Lee, Sangmoon and Chae, Jong H and Price, Susan and Schnur, Rhonda E and Douglas, Ganka and Wentzensen, Ingrid M and Zweier, Christiane and Reis, Andre and Bialer, Martin G and Moore, Christine and Koopmans, Marije and Brilstra, Eva H and Monroe, Glen R and van Gassen, Koen L. I and van Binsbergen, Ellen and Newbury-Ecob, Ruth and Bownass, Lucy and Bader, Ingrid and Mayr, Johannes A and Wortmann, Saskia B and Jakielski, Kathy J and Strand, Edythe A and Kloth, Katja and Bierhals, Tatjana and Roberts, John D and Petrovich, Robert M and