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1. 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, 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
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2. Full Text Clinical and molecular consequences of disease-associated de novo mutations in SATB2
by Bengani, Hemant and Handley, Mark and Alvi, Mohsan and Ibitoye, Rita and Lees, Melissa and Lynch, Sally Ann and Lam, Wayne and Fannemel, Madeleine and Nordgren, Ann and Malmgren, H and Kvarnung, M and Mehta, Sarju and McKee, Shane and Whiteford, Margo and Stewart, Fiona and Connell, Fiona and Clayton-Smith, Jill and Mansour, Sahar and Mohammed, Shehla and Fryer, Alan and Morton, Jenny and Grozeva, Detelina and Asam, Tara and Moore, David and Sifrim, Alejandro and McRae, Jeremy and Hurles, Matthew E and Firth, Helen V and Raymond, F. Lucy and Kini, Usha and Nellåker, Christoffer and FitzPatrick, David R and DDD Study and UK10K Consortium
Genetics in Medicine, ISSN 1098-3600, 08/2017, Volume 19, Issue 8, pp. 900 - 908
Purpose: To characterize features associated with de novo mutations affecting SATB2 function in individuals ascertained on the basis of intellectual... 
Absent speech | Intellectual disability | De novo mutation | CUT domain | SATB2 | de novo mutation | CLEFT-PALATE | absent speech | GENETICS & HEREDITY | MODEL | EXPRESSION | intellectual disability | RANGE | Cell Line | Haploinsufficiency - genetics | Protein Binding - genetics | Transcription Factors - physiology | Loss of Function Mutation | Genetic Association Studies | Humans | Mutation, Missense | Transcription Factors - genetics | Intellectual Disability - genetics | Whole Genome Sequencing | Intellectual Disability - physiopathology | Matrix Attachment Region Binding Proteins - genetics | HeLa Cells | Cohort Studies | Matrix Attachment Region Binding Proteins - physiology | Proteins | Intellectual disabilities | Mutation | Original
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3. Full Text Turning a blind eye: Explicit removal of biases and variation from deep neural network embeddings
by Alvi, Mohsan and Zisserman, Andrew and Nellåker, Christoffer
Lecture Notes in Computer Science (including subseries Lecture Notes in Artificial Intelligence and Lecture Notes in Bioinformatics), ISSN 0302-9743, 2019, Volume 11129, pp. 556 - 572
Ancestral origin dataset | Dataset bias | Face attribute classification
Conference Proceeding
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4. Full Text PURA syndrome: Clinical delineation and genotype-phenotype study in 32 individuals with review of published literature
by Reijnders, Margot R.F and Janowski, Robert and Alvi, Mohsan and Self, Jay E and Van Essen, Ton J and Vreeburg, Maaike and Rouhl, Rob P. W and Stevens, Servi J. C and Stegmann, Alexander P. A and Schieving, Jolanda and Pfundt, Rolph and Van Dijk, Katinke and Smeets, Eric and Stumpel, Connie T.R. M and Bok, Levinus A and Cobben, Jan Maarten and Engelen, Marc and Mansour, Sahar and Whiteford, Margo and Chandler, Kate E and Douzgou, Sofia and Cooper, Nicola S and Tan, Ene-Choo and Foo, Roger and Lai, Angeline H.M and Rankin, Julia and Green, Andrew and Lönnqvist, Tuula and Isohanni, Pirjo and Williams, Shelley and Ruhoy, Ilene and Carvalho, Karen S and Dowling, James J and Lev, Dorit L and Sterbova, Katalin and Lassuthova, Petra and Neupauerová, Jana and Waugh, Jeff L and Keros, Sotirios and Clayton-Smith, Jill and Smithson, Sarah F and Brunner, Han G and Van Hoeckel, Ceciel and Anderson, Mel and Clowes, Virginia E and Siu, Victoria Mok and Ddd Study, The and Selber, Paulo and Leventer, Richard J and Nellaker, Christoffer and Niessing, Dierk and Hunt, David and Baralle, Diana and DDD Study
Journal of Medical Genetics, ISSN 0022-2593, 02/2018, Volume 55, Issue 2, pp. 104 - 113
Background De novo mutations in PURA have recently been described to cause PURA syndrome, a neurodevelopmental disorder characterised by severe intellectual... 
epilepsy and seizures | neonatal problems | PURA syndrome | hypotonia | intellectual disability | 5Q31.3 MICRODELETION SYNDROME | GENES | GENETICS & HEREDITY | POSTNATAL BRAIN-DEVELOPMENT | ALPHA | PATIENT | REVEALS | Genotype | Glycosylation | Genetic disorders | Research | Analysis | Neonates | Phenotypes | Computational neuroscience | Epilepsy | Neurodevelopmental disorders | Feeding | Proteins | Genotype & phenotype | Convulsions & seizures | Startle response | Questionnaires | Computer applications | Photographs | Mutation | Genotypes | Hypothermia | 1506
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5. 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 Davies, Sally and Demos, Michelle K and Goldman, Amy and Gill, Harinder and Horton, Rachel and Kerr, Bronwyn and Kumar, Dhavendra and Kumar, V.K. Ajith and Lehman, Anna and McKee, Shane and Morton, Jenny and Parker, Michael 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 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, Jeffrey C and Barrett, Daniel M and Bayzetinova, Tanya and Jones, Wendy D and Jones, Philip and Jones, Elizabeth 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 Castle, Bruce and Chandler, Kate and Chatzimichali, Elena and Cilliers, Deirdre and Clarke, Angus and Clasper, Susan 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 ... and Clin Assessment Utility Sequencin and Deciphering Dev Disorders DD and Clinical Assessment of the Utility of Sequencing and Evaluation as a Service (CAUSES) Study and Deciphering Developmental Disorders (DDD) Study
The American Journal of Human Genetics, ISSN 0002-9297, 01/2018, Volume 102, Issue 1, pp. 175 - 187
Histone lysine methyltransferases (KMTs) and demethylases (KDMs) underpin gene regulation. Here we demonstrate that variants causing haploinsufficiency of KMTs... 
KDM5B | histone lysine methyltransferase | KMT2C | histone lysine demethylase | KMT2B | Developmental disorders | chromatin remodeling | KMT5B | ASH1L | MLL2 | LOSS-OF-FUNCTION | AUTISM | DE-NOVO MUTATIONS | VARIANTS | GENES | DISEASE | SEQUENCE | GENETICS & HEREDITY | DELETIONS | HAPLOINSUFFICIENCY | Histone-Lysine N-Methyltransferase - genetics | Developmental Disabilities - enzymology | Humans | Adolescent | Child, Preschool | Female | Male | Developmental Disabilities - genetics | Mutation | Child | Histone Demethylases - genetics | Haploinsufficiency | Report
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6. Full Text De Novo and Inherited Loss-of-Function Variants in TLK2: Clinical and Genotype-Phenotype Evaluation of a Distinct Neurodevelopmental Disorder
by Reijnders, Margot R.F and Miller, Kerry A and Alvi, Mohsan and Goos, Jacqueline A.C and Lees, Melissa M and de Burca, Anna and Henderson, Alex and Kraus, Alison and Mikat, Barbara and de Vries, Bert B.A and Isidor, Bertrand and Kerr, Bronwyn and Marcelis, Carlo and Schluth-Bolard, Caroline and Deshpande, Charu and Ruivenkamp, Claudia A.L and Wieczorek, Dagmar and Baralle, Diana and Blair, Edward M and Engels, Hartmut and Lüdecke, Hermann-Josef and Eason, Jacqueline and Santen, Gijs W.E and Clayton-Smith, Jill and Chandler, Kate and Tatton-Brown, Katrina and Payne, Katelyn and Helbig, Katherine and Radtke, Kelly and Nugent, Kimberly M and Cremer, Kirsten and Strom, Tim M and Bird, Lynne M and Sinnema, Margje and Bitner-Glindzicz, Maria and van Dooren, Marieke F and Alders, Marielle and Koopmans, Marije and Brick, Lauren and Kozenko, Mariya and Harline, Megan L and Klaassens, Merel and Steinraths, Michelle and Cooper, Nicola S and Edery, Patrick and Yap, Patrick and Terhal, Paulien A and van der Spek, Peter J and Lakeman, Phillis and Taylor, Rachel L and Littlejohn, Rebecca O and Pfundt, Rolph and Mercimek-Andrews, Saadet and Stegmann, Alexander P.A and Kant, Sarina G and McLean, Scott and Joss, Shelagh and Swagemakers, Sigrid M.A and Douzgou, Sofia and Wall, Steven A and Küry, Sébastien and Calpena, Eduardo and Koelling, Nils and McGowan, Simon J and Twigg, Stephen R.F and Mathijssen, Irene M.J and Nellaker, Christoffer and Brunner, Han G and Wilkie, Andrew O.M and Deciphering Dev Disorders Study and Deciphering Developmental Disorders Study
The American Journal of Human Genetics, ISSN 0002-9297, 06/2018, Volume 102, Issue 6, pp. 1195 - 1203
Next-generation sequencing is a powerful tool for the discovery of genes related to neurodevelopmental disorders (NDDs). Here, we report the identification of... 
kinase | Tousled-like | haploinsufficiency | facial averaging | intellectual disability | TOUSLED-LIKE KINASES | MUTATIONS | GENES | GENETICS & HEREDITY | Cell Line | Translocation, Genetic | Protein Kinases - genetics | Genetic Association Studies | Humans | RNA, Messenger - genetics | Child, Preschool | Infant | Male | Neurodevelopmental Disorders - genetics | RNA, Messenger - metabolism | Young Adult | Base Sequence | Adolescent | Facies | Inheritance Patterns - genetics | Adult | Female | Child | Loss of Function Mutation - genetics | Genetic variation | Child development deviations | Physiological aspects | Genetic aspects | Diagnosis | Research | Protein kinases | Developmental disabilities | Report
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7. Full Text Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy
by O’Donnell-Luria, Anne H and Pais, Lynn S and Faundes, Víctor and Wood, Jordan C and Sveden, Abigail and Luria, Victor and Abou Jamra, Rami and Accogli, Andrea and Amburgey, Kimberly and Anderlid, Britt Marie and Azzarello-Burri, Silvia and Basinger, Alice A and Bianchini, Claudia and Bird, Lynne M and Buchert, Rebecca and Carre, Wilfrid and Ceulemans, Sophia and Charles, Perrine and Cox, Helen and Culliton, Lisa and Currò, Aurora 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 Barrett, Jeffrey C and Bayzetinova, Tanya and Jones, Elizabeth 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 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 ... and Deciphering Developmental Disorders (DDD) Study
The American Journal of Human Genetics, ISSN 0002-9297, 06/2019, Volume 104, Issue 6, pp. 1210 - 1222
We delineate a -related neurodevelopmental disorder on the basis of 38 individuals in 36 families. This study includes 31 distinct heterozygous variants in (28... 
KMT2E | epilepsy | H3K4 methylation | global developmental delay | neurodevelopmental disorder | intellectual disability | epileptic encephalopathy | autism | Genetic aspects | Diagnosis | Research | Chromosomes | Epilepsy
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8. Full Text PURA syndrome: clinical delineation and genotype-phenotype study in 32 individuals with review of published literature
by Weed, D L and Reijnders, Margot R F and Janowski, Robert and Alvi, Mohsan and Self, Jay E and van Essen, Ton J and Vreeburg, Maaike and Rouhl, Rob P W and Stevens, Servi J C and Stegmann, Alexander P A and Schieving, Jolanda and Pfundt, Rolph and van Dijk, Katinke and Smeets, Eric and Stumpel, Connie T R M and Bok, Levinus A and Cobben, Jan Maarten and Engelen, Marc and Mansour, Sahar and Whiteford, Margo and Chandler, Kate E and Douzgou, Sofia and Cooper, Nicola S and Tan, Ene-Choo and Foo, Roger and Lai, Angeline H M and Rankin, Julia and Green, Andrew and Lönnqvist, Tuula and Isohanni, Pirjo and Williams, Shelley and Ruhoy, Ilene and Carvalho, Karen S and Dowling, James J and Lev, Dorit L and Sterbova, Katalin and Lassuthova, Petra and Neupauerová, Jana and Waugh, Jeff L and Keros, Sotirios and Clayton-Smith, Jill and Smithson, Sarah F and Brunner, Han G and van Hoeckel, Ceciel and Anderson, Mel and Clowes, Virginia E and Siu, Victoria Mok and DDD study, The and Selber, Paulo and Leventer, Richard J and Nellaker, Christoffer and Niessing, Dierk and Hunt, David and Baralle, Diana
Journal of Medical Genetics, ISSN 0022-2593, 02/2018, Volume 55, Issue 2, p. 104
BackgroundDe novo mutations in PURA have recently been described to cause PURA syndrome, a neurodevelopmental disorder characterised by severe intellectual... 
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