X
Search Filters
Format Format
Subjects Subjects
Subjects Subjects
X
Sort by Item Count (A-Z)
Filter by Count
genetics & heredity (4) 4
index medicus (4) 4
female (3) 3
humans (3) 3
male (3) 3
mutation (3) 3
adolescent (2) 2
autism (2) 2
cdc2 protein kinase - chemistry (2) 2
cdc2 protein kinase - genetics (2) 2
child (2) 2
congenital diseases (2) 2
de-novo mutations (2) 2
developmental disabilities - genetics (2) 2
exome (2) 2
exome sequencing (2) 2
further section (2) 2
genetics (2) 2
genomes (2) 2
health aspects (2) 2
heart (2) 2
intellectual disability - genetics (2) 2
kinases (2) 2
mutation - genetics (2) 2
rna polymerase (2) 2
syndrome (2) 2
06 biological sciences (1) 1
11 medical and health sciences (1) 1
1506 (1) 1
[ sdv.gen ] life sciences [q-bio]/genetics (1) 1
abnormalities (1) 1
abnormalities, multiple - genetics (1) 1
accurate (1) 1
actb (1) 1
actins (1) 1
actins - biosynthesis (1) 1
actins - genetics (1) 1
addictive behaviors (1) 1
adult (1) 1
aged (1) 1
analysis (1) 1
animals (1) 1
architecture (1) 1
article (1) 1
autoantigens (1) 1
autoantigens - genetics (1) 1
beta-actin (1) 1
biology and life sciences (1) 1
biomedical research (1) 1
birth weight (1) 1
blepharophimosis (1) 1
blood pressure (1) 1
brain mapping (1) 1
cancer-diagnosis (1) 1
cardiovascular disease (1) 1
cardiovascular diseases (1) 1
cdc2 protein kinase (1) 1
cdk13 (1) 1
cell cycle (1) 1
cell cycle - genetics (1) 1
cell proliferation (1) 1
cell proliferation - genetics (1) 1
child, preschool (1) 1
chromatin (1) 1
clinical genetics, congenital heart defects, genetics research (1) 1
codon (1) 1
codon, nonsense - genetics (1) 1
cognitive ability (1) 1
coloboma (1) 1
coloboma - genetics (1) 1
congenital heart defects (1) 1
congenital heart disease (1) 1
conserved sequence (1) 1
coronary artery disease (1) 1
corpus callosum (1) 1
craniofacial syndromes (1) 1
crystal structure (1) 1
cytoskeleton (1) 1
data descriptor (1) 1
datasets (1) 1
deciphering developmental disorders study (1) 1
defects (1) 1
delay (1) 1
depression (1) 1
development and progression (1) 1
developmental biology (1) 1
developmental disabilities (1) 1
developmental disorder (1) 1
discovery (1) 1
disease (1) 1
dynamics (1) 1
echo-planar images (1) 1
eeg (1) 1
electroencephalography - eeg (1) 1
emotion (1) 1
emotional behavior (1) 1
exome - genetics (1) 1
facies (1) 1
frameshift mutation (1) 1
frameshift mutation - genetics (1) 1
more...
Language Language
Publication Date Publication Date
Click on a bar to filter by decade
Slide to change publication date range


by Sifrim, Alejandro and Hitz, Marc-Phillip and Wilsdon, Anna and Breckpot, Jeroen and Turki, Saeed H. Al and Thienpont, Bernard and McRae, Jeremy and Fitzgerald, Tomas W and Singh, Tarjinder and Swaminathan, Ganesh Jawahar and Prigmore, Elena and Rajan, Diana and Abdul-Khaliq, Hashim and Banka, Siddharth and Bauer, Ulrike M.M and Bentham, Jamie and Berger, Felix and Bhattacharya, Shoumo and Bu'Lock, Frances and Canham, Natalie and Colgiu, Irina-Gabriela and Cosgrove, Catherine and Cox, Helen and Daehnert, Ingo and Daly, Allan and Danesh, John and Fryer, Alan and Gewillig, Marc and Hobson, Emma and Hoff, Kirstin and Homfray, Tessa and Kahlert, Anne-Karin and Ketley, Ami and Kramer, Hans-Heiner and Lachlan, Katherine and Lampe, Anne Katrin and Louw, Jacoba J and Manickara, Ashok Kumar and Manase, Dorin and McCarthy, Karen P and Metcalfe, Kay and Moore, Carmel and Newbury-Ecob, Ruth and Omer, Seham Osman and Ouwehand, Willem H and Park, Soo-Mi and Parker, Michael J and Pickardt, Thomas and Pollard, Martin O and Robert, Leema and Roberts, David J and Sambrook, Jennifer and Setchfield, Kerry and Stiller, Brigitte and Thornborough, Chris and Toka, Okan and Watkins, Hugh and Williams, Denise and Wright, Michael and Mital, Seema and Daubeney, Piers E.F and Keavney, Bernard and Goodship, Judith and Abu-Sulaiman, Riyadh Mahdi and Klaassen, Sabine and Wright, Caroline F and Firth, Helen V and Barrett, Jeffrey C and Devriendt, Koenraad and Fitzpatrick, David R and Brook, J David and Hurles, Matthew E and INTERVAL Study and Deciphering Dev Disorders Study and UK10K Consortium and the INTERVAL Study and the Deciphering Developmental Disorders Study and the UK10K Consortium
Nature Genetics, ISSN 1061-4036, 09/2016, Volume 48, Issue 9, pp. 1060 - 1065
Congenital heart defects (CHDs) have a neonatal incidence of 0.8-1% (refs. 1,2). Despite abundant examples of monogenic CHD in humans and mice, CHD has a low... 
DE-NOVO MUTATIONS | GENOTYPE | DISEASE | GENETICS & HEREDITY | FRAMEWORK | RECURRENCE | DISCOVERY | Genetic variation | Exome sequencing | Development and progression | Congenital heart disease | Genetic aspects | Identification and classification | Health aspects | Methods | Heart | Medical research | Biomedical research | Congenital diseases | Funding | Genes | Genomics | Genomes | RNA polymerase | Kinases | Defects | Autism | Mutation
Journal Article
Journal of Medical Genetics, ISSN 0022-2593, 01/2018, Volume 55, Issue 1, pp. 28 - 38
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 12/2017, Volume 101, Issue 6, pp. 1021 - 1033
Journal Article
by Sifrim, Alejandro and Hitz, Marc-Phillip and Wilsdon, Anna and Breckpot, Jeroen and Turki, Saeed H Al and Thienpont, Bernard and McRae, Jeremy and Fitzgerald, Tomas W and Singh, Tarjinder and Swaminathan, Ganesh Jawahar and Prigmore, Elena and Rajan, Diana and Abdul-Khaliq, Hashim and Banka, Siddharth and Bauer, Ulrike M M and Bentham, Jamie and Berger, Felix and Bhattacharya, Shoumo and Bu'Lock, Frances and Canham, Natalie and Colgiu, Irina-Gabriela and Cosgrove, Catherine and Cox, Helen and Daehnert, Ingo and Daly, Allan and Danesh, John and Fryer, Alan and Gewillig, Marc and Hobson, Emma and Hoff, Kirstin and Homfray, Tessa and Kahlert, Anne-Karin and Ketley, Ami and Kramer, Hans-Heiner and Lachlan, Katherine and Lampe, Anne Katrin and Louw, Jacoba J and Manickara, Ashok Kumar and Manase, Dorin and McCarthy, Karen P and Metcalfe, Kay and Moore, Carmel and Newbury-Ecob, Ruth and Omer, Seham Osman and Ouwehand, Willem H and Park, Soo-Mi and Parker, Michael J and Pickardt, Thomas and Pollard, Martin O and Robert, Leema and Roberts, David J and Sambrook, Jennifer and Setchfield, Kerry and Stiller, Brigitte and Thornborough, Chris and Toka, Okan and Watkins, Hugh and Williams, Denise and Wright, Michael and Mital, Seema and Daubeney, Piers E F and Keavney, Bernard and Goodship, Judith and Abu-Sulaiman, Riyadh Mahdi and Klaassen, Sabine and Wright, Caroline F and Firth, Helen V and Barrett, Jeffrey C and Devriendt, Koenraad and FitzPatrick, David R and Brook, J David and Hurles, Matthew E and INTERVAL Study and Deciphering Developmental Disorders Study and UK10K Consortium
Nature genetics, ISSN 1061-4036, 09/2016, Volume 48, Issue 9, p. 1060
Journal Article
SCIENTIFIC DATA, ISSN 2052-4463, 02/2019, Volume 6, Issue 1, p. 180308
Journal Article
by Babayan, Anahit and Erbey, Miray and Kumral, Deniz and Reinelt, Janis D and Reiter, Andrea M. F and Röbbig, Josefin and Lina Schaare, H and Uhlig, Marie and Anwander, Alfred and Bazin, Pierre-Louis and Horstmann, Annette and Lampe, Leonie and Nikulin, Vadim V and Okon-Singer, Hadas and Preusser, Sven and Pampel, André and Rohr, Christiane S and Sacher, Julia and Thöne-Otto, Angelika and Trapp, Sabrina and Nierhaus, Till and Altmann, Denise and Arelin, Katrin and Blöchl, Maria and Bongartz, Edith and Breig, Patric and Cesnaite, Elena and Chen, Sufang and Cozatl, Roberto and Czerwonatis, Saskia and Dambrauskaite, Gabriele and Dreyer, Maria and Enders, Jessica and Engelhardt, Melina and Fischer, Marie Michele and Forschack, Norman and Golchert, Johannes and Golz, Laura and Guran, C. Alexandrina and Hedrich, Susanna and Hentschel, Nicole and Hoffmann, Daria I and Huntenburg, Julia M and Jost, Rebecca and Kosatschek, Anna and Kunzendorf, Stella and Lammers, Hannah and Lauckner, Mark E and Mahjoory, Keyvan and Kanaan, Ahmad S and Mendes, Natacha and Menger, Ramona and Morino, Enzo and Näthe, Karina and Neubauer, Jennifer and Noyan, Handan and Oligschläger, Sabine and Panczyszyn-Trzewik, Patricia and Poehlchen, Dorothee and Putzke, Nadine and Roski, Sabrina and Schaller, Marie-Catherine and Schieferbein, Anja and Schlaak, Benito and Schmidt, Robert and Gorgolewski, Krzysztof J and Schmidt, Hanna Maria and Schrimpf, Anne and Stasch, Sylvia and Voss, Maria and Wiedemann, Annett and Margulies, Daniel S and Gaebler, Michael and Villringer, Arno
Scientific Data, 2019, Volume 6
Journal Article
International Archives of Allergy and Immunology, ISSN 1018-2438, 1995, Volume 107, Issue 1-3, pp. 470 - 474
Journal Article
International Archives of Allergy and Immunology, ISSN 1018-2438, 1995, Volume 107, Issue 1-3, pp. 1 - 10
Journal Article
International Archives of Allergy and Immunology, ISSN 1018-2438, 1995, Volume 107, Issue 1-3, pp. 467 - 469
Journal Article
No results were found for your search.

Cannot display more than 1000 results, please narrow the terms of your search.