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Best practice & research. Clinical obstetrics & gynaecology, ISSN 1521-6934, 2010, Volume 25, Issue 1, pp. 3 - 14
Journal Article
by McRae, Jeremy F and Aitken, Stuart and Akawi, Nadia and Alvi, Mohsan and Barrett, Daniel M and Jones, Wendy D and Krishnappa, Netravathi and Mason, Laura E and Singh, Tarjinder and Ahmed, Munaza and Anjum, Uruj and Barnicoat, Angela and Batstone, Paul and Bevan, A. Paul and Blyth, Moira and Canham, Natalie and Clarke, Angus and Clasper, Susan and Clayton-Smith, Jill and Coates, Andrea and Collinson, Morag N and Cooper, Nicola and Cox, Helen and Cross, Gareth and Crow, Yanick and D'Alessandro, Mariella and De Vries, Dylan and Deshpande, Charu and Devlin, Gemma and Dobbie, Angus and Donnai, Dian and Ellard, Sian and Elmslie, Frances and Fry, Andrew and Gaunt, Lorraine and Gray, Emma and Harrison, Rachel and Harrison, Victoria and Henderson, Alex and Hewitt, Sarah and Holden, Simon and Holder, Susan and Hollingsworth, Georgina and Homfray, Tessa and Hurst, Jane and Jarvis, Joanna and Kaemba, Beckie and Kazembe, Sandra and Kelsell, Rosemary and Kerr, Bronwyn and Kinning, Esther and Kivuva, Emma and Kumar, Dhavendra and Ajith Kumar, V.K and Lam, Wayne and Langman, Caroline and Marks, Karen and McConnell, Vivienne and McKee, Shane and McMullan, Dominic J and Mehta, Sarju and Middleton, Anna and Montgomery, Tara and Naik, Swati and Nevitt, Louise and Newbury-Ecob, Ruth and Norman, Andrew and O'Shea, Rosie and Park, Soo-Mi and Patel, Chirag and Payne, Stewart and Phipps, Julie and Pilz, Daniela T and Pottinger, Caroline and Pratt, Norman and Prescott, Katrina and Price, Sue and Rahbari, Raheleh and Raymond, Lucy and Roberts, Jonathan and Roberts, Paul and Selby, Ann and Seller, Anneke and Sheridan, Eamonn and Smith, Kath and Smithson, Sarah and Splitt, Miranda and Squires, Miranda and Stewart, Fiona and Suri, Mohnish and Sutton, Vivienne and Swaminathan, Ganesh Jawahar and Turnpenny, Peter and Tysoe, Carolyn and Vogt, Julie and Wellesley, Diana and Wright, Michael and Nellåker, Chris and FitzPatrick, David R and Barrett, Jeffrey C 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
Journal Article
Journal Article
by Feig, Denice S and Donovan, Lois E and Corcoy, Rosa and Amiel, Stephanie A and Hunt, Katharine F and Asztalos, Elizabeth and Barrett, Jon F R and de Leiva, Alberto and Hod, Moshe and Jovanovic, Lois and Keely, Erin and McManus, Ruth and Hutton, Eileen K and Stewart, Zoe A and Wysocki, Tim and O'Brien, Robert and Kollman, Craig and Tomlinson, George and Murphy, Helen R and Grisoni, Jeannie and Byrne, Carolyn and Davenport, Katy and Neoh, Sandra and Gougeon, Claire and Oldford, Carolyn and Young, Catherine and Green, Louisa and Rossi, Benedetta and Rogers, Helen and Cleave, Barbara and Strom, Michelle and Adelantado, Juan María and Tundidor, Diana and Henry, Kathy and Morris, Damian and Rayman, Gerry and Fowler, Duncan and Mitchell, Susan and Rosier, Josephine and Temple, Rosemary and Turner, Jeremy and Hewapathirana, Niranjala and Piper, Leanne and Kudirka, Anne and Watson, Margaret and Bonomo, Matteo and Pintaudi, Basilio and Bertuzzi, Federico and Daniela, Giuseppina and Mion, Elena and Lowe, Julia and Halperin, Ilana and Rogowsky, Anna and Adib, Sapida and Carty, David and Crawford, Isobel and Mackenzie, Fiona and McInnes, Natalia and Smith, Ada and Stanton, Irene and Tazzeo, Tracy and Weisnagel, John and Jones, Nia and MacDougall, Malcolm and Chilton, Sharon and Scott, Eleanor and Endersby, Del and Novodorsky, Peter and Hudson, Sue and Nisbet, Chloe and Coolen, Jill and Baxendale, Darlene and Holt, Richard and Forbes, Jane and Martin, Nicki and Conway, Sharon and Egan, Aoife and Kirwin, Collette and Maresh, Michael and Kearney, Gretta and Quinn, Susan and Bilous, Rudy and Godbout, Ariane and Lubina, Alexandra and Jackson, Margaret and Paul, Emma and Taylor, Julie and Houlden, Robyn and Breen, Adriana and Banerjee, Anita and Reid, Anna and Singh, Claire and Newstead-Angel, Jill and Baxter, Janet and Philip, Sam and Murray, Lynne and Castorino, Kristin and Frase, Donna and Lou, Olivia and Pragnell, Marlon and CONCEPTT Collaborative Group and CONCEPTT Collaborative Grp
The Lancet (British edition), ISSN 0140-6736, 11/2017, Volume 390, Issue 10110, pp. 2347 - 2359
Journal Article