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Journal of Medical Genetics, ISSN 0022-2593, 10/1923, Volume 41, Issue 4, p. 241
Tendons and ligaments within the upper and lower limbs are some of the more common sites of musculoskeletal injuries during physical activity. Several... 
Journal Article
2016, Colloquium series on genomic and molecular medicine, ISBN 1615047182, Volume 6
Current knowledge of the etiology of congenital malformations of the human gastrointestinal tract is covered in this book, prefaced by some introductory notes... 
Gastrointestinal Tract | Gastrointestinal system | Abnormalities | Molecular aspects
Web Resource
by Sen, Partha and Yang, Yaping and Navarro, Colby and Silva, Iris and Szafranski, Przemyslaw and Kolodziejska, Katarzyna E and Dharmadhikari, Avinash V and Mostafa, Hasnaa and Kozakewich, Harry and Kearney, Debra and Cahill, John B and Whitt, Merrissa and Bilic, Masha and Margraf, Linda and Charles, Adrian and Goldblatt, Jack and Gibson, Kathleen and Lantz, Patrick E and Garvin, A. Julian and Petty, John and Kiblawi, Zeina and Zuppan, Craig and McConkie‐Rosell, Allyn and McDonald, Marie T and Peterson‐Carmichael, Stacey L and Gaede, Jane T and Shivanna, Binoy and Schady, Deborah and Friedlich, Philippe S and Hays, Stephen R and Palafoll, Irene Valenzuela and Siebers‐Renelt, Ulrike and Bohring, Axel and Finn, Laura S and Siebert, Joseph R and Galambos, Csaba and Nguyen, Lananh and Riley, Melissa and Chassaing, Nicolas and Vigouroux, Adeline and Rocha, Gustavo and Fernandes, Susana and Brumbaugh, Jane and Roberts, Kari and Ho‐ming, Luk and Lo, Ivan F. M and Lam, Stephen and Gerychova, Romana and Jezova, Marta and Valaskova, Iveta and Fellmann, Florence and Afshar, Katayoun and Giannoni, Eric and Muhlethaler, Vincent and Liang, Jinlong and Beckmann, Jacques S and Lioy, Janet and Deshmukh, Hitesh and Srinivasan, Lakshmi and Swarr, Daniel T and Sloman, Melissa and Shaw‐Smith, Charles and Loon, Rosa Laura and Hagman, Cecilia and Sznajer, Yves and Barrea, Catherine and Galant, Christine and Detaille, Thierry and Wambach, Jennifer A and Cole, F. Sessions and Hamvas, Aaron and Prince, Lawrence S and Diderich, Karin E.M and Brooks, Alice S and Verdijk, Robert M and Ravindranathan, Hari and Sugo, Ella and Mowat, David and Baker, Michael L and Langston, Claire and Welty, Stephen and Stankiewicz, Pawel and Paediatrics (Lund) and Lund University and Lunds universitet and Pediatrik, Lund
Human Mutation, ISSN 1059-7794, 06/2013, Volume 34, Issue 6, pp. 801 - 811
Journal Article
12/2015, Colloquium Series on Genomic and Molecular Medicine, ISBN 1615047182, 127
Current knowledge of the etiology of congenital malformations of the human gastrointestinal tract is covered in this book, prefaced by some introductory notes... 
Gastrointestinal system | Biology, life sciences | Life Sciences | Science | Genetics & Genomics | Molecular aspects
eBook
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 | 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
Diabetes, ISSN 0012-1797, 03/2013, Volume 62, Issue 3, pp. 993 - 997
Journal Article
CLINICAL NEPHROLOGY, ISSN 0301-0430, 06/2019, Volume 91, Issue 6, pp. 386 - 388
Journal Article
Journal Article
Nature Genetics, ISSN 1061-4036, 2011, Volume 44, Issue 1, pp. 20 - 22
Journal Article
Nature, ISSN 0028-0836, 04/2006, Volume 440, Issue 7087, pp. 1045 - 1049
Journal Article
Human Mutation, ISSN 1059-7794, 09/2018, Volume 39, Issue 9, pp. 1226 - 1237
Journal Article