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1. Full Text Anomalous midline location of the descending aorta: A cause of compression of the carina and left mainstem bronchus in infants
by Donnelly, L.F and Bisset III, G.S and McDermott, B
American Journal of Roentgenology, ISSN 0361-803X, 1995, Volume 164, Issue 3, pp. 705 - 707
RADIOLOGY & NUCLEAR MEDICINE | Aorta, Thoracic - abnormalities | Magnetic Resonance Imaging | Bronchial Diseases - etiology | Tracheal Stenosis - diagnosis | Constriction, Pathologic | Humans | Female | Infant | Male | Bronchial Diseases - diagnosis | Tracheal Stenosis - etiology
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2. Placement of peripherally inserted central catheters without fluoroscopy in children: Initial catheter tip position
by Fricke, Bradley L and Racadio, John M and Duckworth, Tracy and Donnelly, Lane F and Tamer, Robert M and Johnson, Neil D
Radiology, ISSN 0033-8419, 03/2005, Volume 234, Issue 3, pp. 887 - 892
PURPOSE: To determine how often placement of peripherally inserted central catheters (PICCs) without imaging guidance results in an initially correct central... 
ANATOMY | PRESSURE CATHETERS | LANDMARK | VEINS | CARINA | CENTRAL VENOUS CATHETERS | CARDIAC-TAMPONADE | RADIOLOGY, NUCLEAR MEDICINE & MEDICAL IMAGING | Catheterization, Peripheral - methods | Radiography, Interventional | Humans | Catheterization, Central Venous - methods | Child, Preschool | Infant | Male | Treatment Outcome | Fluoroscopy | Chi-Square Distribution | Time Factors | Adolescent | Adult | Female | Retrospective Studies | Child | Infant, Newborn
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3. 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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4. Full Text Genome-wide association identifies nine common variants associated with fasting proinsulin levels and provides new insights into the pathophysiology of type 2 diabetes
by Strawbridge, Rona J and Dupuis, Josée and Prokopenko, Inga and Barker, Adam and Ahlqvist, Emma and Rybin, Denis and Petrie, John R and Travers, Mary E and Bouatia-Naji, Nabila and Dimas, Antigone S and Nica, Alexana and Wheeler, Eleanor and Chen, Han and Voight, Benjamin F and Taneera, Jalal and Kanoni, Stavroula and Peden, John F and Turrini, Fabiola and Gustafsson, Stefan and Zabena, Carina and Almgren, Peter and Barker, David J. P and Barnes, Daniel and Dennison, Elaine M and Eriksson, Johan G and Eriksson, Per and Eury, Elodie and Folkersen, Lasse and Fox, Caroline S and Frayling, Timothy M and Goel, Anuj and Gu, Harvest F and Horikoshi, Momoko and Isomaa, Bo and Jackson, Anne U and Jameson, Karen A and Kajantie, Eero and Kerr-Conte, Julie and Kuulasmaa, Teemu and Kuusisto, Johanna and Loos, Ruth J. F and Luan, Jian'an and Makrilakis, Konstantinos and Manning, Alisa K and Martínez-Larrad, María Teresa and Narisu, Narisu and Nastase Mannila, Maria and Ohrvik, John and Osmond, Clive and Pascoe, Laura and Payne, Felicity and Sayer, Avan A and Sennblad, Bengt and Silveira, Angela and Stancáková, Alena and Stirrups, Kathy and Swift, Amy J and Syvänen, Ann-Christine and Tuomi, Tiinamaija and van 't Hooft, Ferdinand M and Walker, Mark and Weedon, Michael N and Xie, Weijia and Zethelius, Björn and Ongen, Halit and Mälarstig, Anders and Hopewell, Jemma C and Saleheen, Danish and Chambers, John and Parish, Sarah and Danesh, John and Kooner, Jaspal and Ostenson, Claes-Göran and Lind, Lars and Cooper, Cyrus C and Serrano-Ríos, Manuel and Ferrannini, Ele and Forsen, Tom J and Clarke, Robert and Franzosi, Maria Grazia and Seedorf, Udo and Watkins, Hugh and Froguel, Philippe and Johnson, Paul and Deloukas, Panos and Collins, Francis S and Laakso, Markku and Dermitzakis, Emmanouil T and Boehnke, Michael and McCarthy, Mark I and Wareham, Nicholas J and Groop, Leif and Pattou, François and Gloyn, Anna L and Dedoussis, George V and Lyssenko, Valeriya and Meigs, James B and Barroso, Inês and Watanabe, Richard M and Ingelsson, Erik and ... and C4D Consortium and DIAGRAM Consortium and GIANT Consortium and CARDIoGRAM Consortium and MuTHER Consortium and the MuTHER Consortium and the CARDIoGRAM Consortium and the C4D Consortium and the DIAGRAM Consortium and the GIANT Consortium and Medicinska fakulteten and Science for Life Laboratory, SciLifeLab and Medicinska och farmaceutiska vetenskapsområdet and Molekylär medicin and Geriatrik and Uppsala universitet and Institutionen för medicinska vetenskaper and Institutionen för folkhälso- och vårdvetenskap
Diabetes, ISSN 0012-1797, 2011, Volume 60, Issue 10, pp. 2624 - 2634
Proinsulin is a precursor of mature insulin and C-peptide. Higher circulating proinsulin levels are associated with impaired β-cell function, raised glucose... 
POPULATION | TCF7L2 | GLUCOSE-HOMEOSTASIS | OBESITY | METAANALYSIS | ENDOCRINOLOGY & METABOLISM | SUSCEPTIBILITY LOCI | RISK | CORONARY HEART-DISEASE | INSULIN SENSITIVITY | BETA-CELL FUNCTION | Proinsulin - blood | Diabetes Mellitus, Type 2 - genetics | Humans | Genotype | Male | Diabetes Mellitus, Type 2 - metabolism | Insulin - blood | Genetic Variation | Diabetes Mellitus, Type 2 - blood | Fasting - blood | Polymorphism, Single Nucleotide - genetics | Adult | Female | Genome, Human | Type 2 diabetes | Genetic susceptibility | Genetic variation | Physiological aspects | Genetic aspects | Research | Health aspects | Risk factors | Genetics | Medical and Health Sciences | Medicin och hälsovetenskap
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5. Full Text Coordination of European policy inside the British government
by Donnelly, Martin
Public Administration, ISSN 0033-3298, 03/2019, Volume 97, Issue 1, pp. 226 - 230
This article looks at the structures of UK coordination of European policy from 1973 to 2016, from the perspective of an insider for much of that period. I... 
PUBLIC ADMINISTRATION | POLITICAL SCIENCE | Civil service | Coordination | Public policy | Decision making | Trust | EU membership
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6. 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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7. Full Text Use of early corticosteroid therapy on ICU admission in patients affected by severe pandemic (H1N1)v influenza A infection
by Martin-Loeches, I and Lisboa, T and Rhodes, A and Moreno, R P and Silva, E and Sprung, C and Chiche, J D and Barahona, D and Villabon, M and Balasini, C and Pearse, R M and Matos, R and Rello, J and ESICM H1N1 Registry Contributors and The ESICM H1N1 Registry Contributors
Intensive Care Medicine, ISSN 0342-4642, 2/2011, Volume 37, Issue 2, pp. 272 - 283
Early use of corticosteroids in patients affected by pandemic (H1N1)v influenza A infection, although relatively common, remains controversial.Prospective,... 
Pediatrics | Pain Medicine | Pneumology/Respiratory System | Emergency Medicine | Medicine & Public Health | Community acquired pneumonia | Intensive / Critical Care Medicine | Pandemic (H1N1)v influenza A infection | Corticosteroid therapy | Anesthesiology | ARDS | SYNDROME SARS | ADULT PATIENTS | COMMUNITY-ACQUIRED PNEUMONIA | DISTRESS-SYNDROME | ACUTE LUNG INJURY | ACUTE RESPIRATORY SYNDROME | INTENSIVE-CARE-UNIT | SEPTIC SHOCK | CRITICALLY-ILL PATIENTS | H1N1 INFLUENZA | CRITICAL CARE MEDICINE | Severity of Illness Index | Intensive Care Units | Pandemics | Prospective Studies | Pneumonia - epidemiology | Humans | Middle Aged | Europe - epidemiology | Male | Adrenal Cortex Hormones - therapeutic use | Influenza A Virus, H1N1 Subtype - drug effects | Adrenal Cortex Hormones - adverse effects | Likelihood Functions | Registries - statistics & numerical data | Survival Analysis | Adult | Female | Influenza, Human - drug therapy | Adrenal Cortex Hormones - administration & dosage | Cross Infection - epidemiology | Dosage and administration | Corticosteroids | Research | Diagnosis | Drug therapy | Swine influenza | Medical and Health Sciences | Medicin och hälsovetenskap
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8. 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
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