X
Search Filters
Format Format
Subjects Subjects
Subjects Subjects
X
Sort by Item Count (A-Z)
Filter by Count
humans (33) 33
index medicus (21) 21
male (21) 21
female (19) 19
mutation (14) 14
obesity (14) 14
child (12) 12
genetic aspects (12) 12
genetics & heredity (11) 11
multidisciplinary sciences (11) 11
mice (10) 10
research (10) 10
adolescent (9) 9
animals (9) 9
adult (8) 8
alleles (8) 8
child, preschool (8) 8
dna mutational analysis (8) 8
genetic association studies (8) 8
obesity - genetics (8) 8
pedigree (8) 8
article (7) 7
base sequence (7) 7
case-control studies (7) 7
genetic variation (7) 7
heterozygote (7) 7
health aspects (6) 6
leptin (6) 6
medicine, research & experimental (6) 6
middle aged (6) 6
models, molecular (6) 6
abridged index medicus (5) 5
gene expression (5) 5
genes (5) 5
hek293 cells (5) 5
hypothalamus (5) 5
infant (5) 5
molecular sequence data (5) 5
mutation, missense (5) 5
nervous system (5) 5
phenotype (5) 5
studies (5) 5
amino acid sequence (4) 4
biochemistry & molecular biology (4) 4
biomedical research (4) 4
brain (4) 4
chromosome mapping (4) 4
expression (4) 4
gene (4) 4
gene frequency (4) 4
gene mutations (4) 4
genetics (4) 4
genome, human (4) 4
genotype (4) 4
obesity - metabolism (4) 4
polymorphism, single nucleotide (4) 4
protein conformation (4) 4
syndrome (4) 4
uk10k consortium (4) 4
united kingdom (4) 4
young adult (4) 4
3111 biomedicine (3) 3
adaptor proteins, signal transducing - genetics (3) 3
aged (3) 3
aged, 80 and over (3) 3
alternative splicing (3) 3
analysis (3) 3
autism (3) 3
brief report (3) 3
care and treatment (3) 3
cell biology (3) 3
children (3) 3
cohort studies (3) 3
craniosynostoses - pathology (3) 3
dna copy number variations - genetics (3) 3
energy balance (3) 3
european continental ancestry group (3) 3
fgfr2 (3) 3
food-intake (3) 3
gene expression regulation, developmental (3) 3
genetic predisposition to disease (3) 3
genetic research (3) 3
genome-wide association study (3) 3
genomes (3) 3
genomics (3) 3
haplotypes (3) 3
homeodomain proteins - genetics (3) 3
homeodomain proteins - metabolism (3) 3
homeostasis (3) 3
identification and classification (3) 3
insulin (3) 3
mutations (3) 3
nerve tissue proteins - genetics (3) 3
obesity - pathology (3) 3
penetrance (3) 3
physiological aspects (3) 3
risk (3) 3
rodents (3) 3
saethre-chotzen-syndrome (3) 3
science (3) 3
more...
Language Language
Publication Date Publication Date
Click on a bar to filter by decade
Slide to change publication date range


Nature Genetics, ISSN 1061-4036, 2013, Volume 45, Issue 9, pp. 1055 - 1060
Journal Article
Journal Article
The New England Journal of Medicine, ISSN 0028-4793, 01/2012, Volume 366, Issue 3, pp. 243 - 249
Journal Article
PLoS ONE, ISSN 1932-6203, 03/2013, Volume 8, Issue 3, p. e59061
Journal Article
Journal Article
Cell, ISSN 0092-8674, 11/2013, Volume 155, Issue 4, pp. 765 - 777
Journal Article
Journal Article
by Gorman, Kathleen M and Meyer, Esther and Grozeva, Detelina and Spinelli, Egidio and McTague, Amy and Sanchis-Juan, Alba and Carss, Keren and Carss, Keren J and Bryant, Emily and Reich, Adi and Schneider, Amy L and Pressler, Ronit M and Simpson, Michael A and Debelle, Geoff D and Wassmer, Evangeline and Morton, Jenny and Sieciechowicz, Diana and Jan-Kamsteeg, Eric and Paciorkowski, Alex R and King, Daniel and King, Mary D and Cross, J. Helen and Cross, Gareth and Poduri, Annapurna and Mefford, Heather C and Scheffer, Ingrid E and Haack, Tobias B and McCullagh, Gary 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, Philip and Jones, Elizabeth and Jones, Wendy D 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 Bennett, David 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, John R and Bradley, Lisa and Brady, Angela and Brady, Angie 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, Guy and Coates, Andrea and Cole, Trevor and Colgiu, Irina and Collins, Amanda and Collins, Peter and Collinson, Morag N and Connell, Fiona and Cooper, Nichola and Cooper, Nicola and Cox, Tony and ... and NIHR BioResource and Deciphering Dev Disorders Study and UK10K Consortium and Deciphering Developmental Disorders Study
The American Journal of Human Genetics, ISSN 0002-9297, 05/2019, Volume 104, Issue 5, pp. 948 - 956
The occurrence of non-epileptic hyperkinetic movements in the context of developmental epileptic encephalopathies is an increasingly recognized phenomenon.... 
epilepsy | CACNA1B | epilepsy-dyskinesia | developmental and epileptic encephalopathy (DEE) | ENCEPHALOPATHIES | CLASSIFICATION | DE-NOVO MUTATIONS | CALCIUM-CHANNELS | GENETICS & HEREDITY | MYOCLONUS-DYSTONIA
Journal Article