X
Search Filters
Format Format
Subjects Subjects
Subjects Subjects
X
Sort by Item Count (A-Z)
Filter by Count
humans (30) 30
index medicus (28) 28
female (27) 27
male (23) 23
child (21) 21
genetics & heredity (19) 19
phenotype (19) 19
adolescent (18) 18
genetics (18) 18
life sciences (17) 17
adult (15) 15
child, preschool (15) 15
mutation (14) 14
autism (12) 12
infant (12) 12
intellectual disability - genetics (12) 12
clinical neurology (10) 10
neurosciences (10) 10
genes (9) 9
genetic aspects (9) 9
human genetics (8) 8
young adult (8) 8
analysis (7) 7
biochemistry & molecular biology (7) 7
intellectual disability (7) 7
middle aged (7) 7
psychiatry (7) 7
research (7) 7
de-novo mutations (6) 6
diagnosis (6) 6
gene (6) 6
gene mutations (6) 6
genomics (6) 6
mutations (6) 6
spectrum (6) 6
[ sdv.gen ] life sciences [q-bio]/genetics (5) 5
[ sdv.gen.gh ] life sciences [q-bio]/genetics/human genetics (5) 5
[sdv.gen.gh]life sciences [q-bio]/genetics/human genetics (5) 5
[sdv.gen]life sciences [q-bio]/genetics (5) 5
children (5) 5
chromosome deletion (5) 5
chromosomes (5) 5
cohort studies (5) 5
family (5) 5
genetic association studies (5) 5
genotype (5) 5
mental-retardation (5) 5
neurodevelopmental disorders (5) 5
patients (5) 5
schizophrenia (5) 5
animals (4) 4
article (4) 4
autism spectrum disorder (4) 4
autism spectrum disorder - genetics (4) 4
biochemistry, molecular biology (4) 4
clinical genetics (4) 4
clinical medicine (4) 4
cognition (4) 4
deletion (4) 4
disorder (4) 4
expression (4) 4
human health and pathology (4) 4
infantile spasms (4) 4
intellectual disability - diagnosis (4) 4
magnetic resonance imaging (4) 4
medical research (4) 4
medicine (4) 4
medicine, experimental (4) 4
microcephaly - genetics (4) 4
mutation - genetics (4) 4
myotonic dystrophy (4) 4
myotonic dystrophy - genetics (4) 4
nerve tissue proteins - genetics (4) 4
pediatrics (4) 4
psykiatri (4) 4
risk (4) 4
risk factors (4) 4
syndrome (4) 4
abnormalities, multiple - diagnosis (3) 3
abnormalities, multiple - genetics (3) 3
abridged index medicus (3) 3
association (3) 3
behavior (3) 3
brain (3) 3
care and treatment (3) 3
child development disorders, pervasive - genetics (3) 3
chromosome duplication (3) 3
cognition disorders - genetics (3) 3
cognitive ability (3) 3
comorbidity (3) 3
comparative genomic hybridization (3) 3
ctg repeat (3) 3
disorders (3) 3
dna copy number variations - genetics (3) 3
duplication (3) 3
electroencephalography (3) 3
encephalopathy (3) 3
epilepsy (3) 3
epilepsy - genetics (3) 3
epileptic encephalopathy (3) 3
more...
Language Language
Publication Date Publication Date
Click on a bar to filter by decade
Slide to change publication date range


PLoS Genetics, ISSN 1553-7390, 09/2014, Volume 10, Issue 9, p. e1004580
Journal Article
European Journal of Human Genetics, ISSN 1018-4813, 2014, Volume 22, Issue 1, pp. 71 - 78
Journal Article
by Böhm, Johann and Biancalana, Valerie and DeChene, Elizabeth T and Bitoun, Marc and Pierson, Christopher R and Schaefer, Elise and Karasoy, Hatice and Dempsey, Melissa A and Klein, Fabrice and Dondaine, Nicolas and Kretz, Christine and Haumesser, Nicolas and Poirson, Claire and Toussaint, Anne and Greenleaf, Rebecca S and Barger, Melissa A and Mahoney, Lane J and Kang, Peter B and Zanoteli, Edmar and Vissing, John and Witting, Nanna and Echaniz-Laguna, Andoni and Wallgren-Pettersson, Carina and Dowling, James and Merlini, Luciano and Oldfors, Anders and Ousager, Lilian Bomme and Melki, Judith and Krause, Amanda and Jern, Christina and Oliveira, Acary S.B and Petit, Florence and Jacquette, Aurélia and Chaussenot, Annabelle and Mowat, David and Leheup, Bruno and Cristofano, Michele and Aldea, Juan José Poza and Michel, Fabrice and Furby, Alain and Llona, Jose E. Barcena and Van Coster, Rudy and Bertini, Enrico and Urtizberea, Jon Andoni and Drouin-Garraud, Valérie and roud, Christophe Bé and Prudhon, Bernard and Bedford, Melanie and Mathews, Katherine and Erby, Lori A.H and Smith, Stephen A and Roggenbuck, Jennifer and Crowe, Carol A and Spitale, Allison Brennan and Johal, Sheila C and Amato, Anthony A and Demmer, Laurie A and Jonas, Jessica and Darras, Basil T and Bird, Thomas D and Laurino, Mercy and Welt, Selman I and Trotter, Cynthia and Guicheney, Pascale and Das, Soma and Mandel, Jean-Louis and Beggs, Alan H and Laporte, Jocelyn and Institutionen för biomedicin, avdelningen för medicinsk genetik och klinisk genetik and Göteborgs universitet and Gothenburg University and Institute of Biomedicine, Department of Pathology and Institute of Biomedicine, Department of Medical and Clinical Genetics and Sahlgrenska Academy and Institutionen för biomedicin, avdelningen för patologi and Sahlgrenska akademin
Human Mutation, ISSN 1059-7794, 06/2012, Volume 33, Issue 6, pp. 949 - 959
Journal Article
Orphanet Journal of Rare Diseases, ISSN 1750-1172, 2013, Volume 8, Issue 1, p. 80
Journal Article
American Journal of Medical Genetics Part C: Seminars in Medical Genetics, ISSN 1552-4868, 12/2017, Volume 175, Issue 4, pp. 417 - 430
Journal Article
Journal of Pediatrics, The, ISSN 0022-3476, 2017, Volume 185, pp. 160 - 166.e1
Journal Article
Orphanet journal of rare diseases, ISSN 1750-1172, 2014, Volume 9, Issue 1, p. 207
Journal Article
Epilepsia, ISSN 0013-9580, 10/2011, Volume 52, Issue 10, pp. 1820 - 1827
Journal Article
Amino Acids, ISSN 0939-4451, 12/2015, Volume 47, Issue 12, pp. 2647 - 2658
Journal Article
European Child and Adolescent Psychiatry, ISSN 1018-8827, 2009, Volume 18, Issue 12, pp. 705 - 715
Myotonic dystrophy type 1 (DM1) is the most frequent inherited neuromuscular disorder. The juvenile form has been associated with cognitive and psychiatric... 
Myotonic dystrophy type 1 | Cognitive profile | Juvenile form | Psychiatric phenotype | CTG REPEAT | PSYCHIATRY | PROTEIN-KINASE | PSYCHOLOGY, DEVELOPMENTAL | MUSCULAR-DYSTROPHY | CHILDHOOD | IMPAIRMENT | TYPE-1 DM-1 | ATTENTION-DEFICIT/HYPERACTIVITY DISORDER | PROFILE | PEDIATRICS | ONSET | AGE | Humans | Anxiety Disorders - diagnosis | Child, Preschool | Male | Intelligence - genetics | Intellectual Disability - genetics | Young Adult | Child Development Disorders, Pervasive - diagnosis | Myotonic Dystrophy - genetics | Female | Child | Depressive Disorder - genetics | Child Behavior Disorders - psychology | Child Behavior Disorders - diagnosis | Comorbidity | Self-Injurious Behavior - psychology | Depressive Disorder - diagnosis | Genotype | Anxiety Disorders - psychology | Self-Injurious Behavior - genetics | Phenotype | Attention Deficit Disorder with Hyperactivity - genetics | Child Development Disorders, Pervasive - psychology | Myotonic Dystrophy - psychology | Child Development Disorders, Pervasive - genetics | Intellectual Disability - diagnosis | Adolescent | Internal-External Control | Attention Deficit Disorder with Hyperactivity - psychology | Anxiety Disorders - genetics | Intellectual Disability - psychology | Child Behavior Disorders - genetics | Depressive Disorder - psychology | Genetic Carrier Screening | Neurosciences | Myotonic dystrophy | Analysis | Attention-deficit hyperactivity disorder | Genetic aspects | Learning disabilities | Anxiety
Journal Article