X
Search Filters
Format Format
Subjects Subjects
Subjects Subjects
X
Sort by Item Count (A-Z)
Filter by Count
humans (26) 26
female (20) 20
index medicus (20) 20
male (20) 20
genetics & heredity (12) 12
phenotype (12) 12
adult (11) 11
middle aged (11) 11
child (9) 9
mutation (8) 8
aged (7) 7
abnormalities, multiple - genetics (6) 6
adolescent (6) 6
child, preschool (6) 6
infant (6) 6
retrospective studies (6) 6
analysis (5) 5
cohort studies (5) 5
exome (5) 5
genetic disorders (5) 5
genetics (5) 5
health aspects (5) 5
medical research (5) 5
research (5) 5
risk factors (5) 5
syndrome (5) 5
animals (4) 4
article (4) 4
chromosome deletion (4) 4
deletion (4) 4
genetic aspects (4) 4
journal article (4) 4
medicine, experimental (4) 4
physiological aspects (4) 4
proteins (4) 4
treatment outcome (4) 4
young adult (4) 4
biochemistry & molecular biology (3) 3
carrier proteins - genetics (3) 3
chromosomes, human, pair 16 - genetics (3) 3
comparative genomic hybridization (3) 3
copy number variation (3) 3
diagnosis (3) 3
gene mutations (3) 3
genetic variation (3) 3
heterozygote (3) 3
mutation - genetics (3) 3
noncardiac surgery (3) 3
obesity (3) 3
obesity - genetics (3) 3
patient (3) 3
psychiatry (3) 3
abnormalities, multiple - diagnosis (2) 2
age of onset (2) 2
aged, 80 and over (2) 2
aging (2) 2
anesthesia (2) 2
antidepressive agents - adverse effects (2) 2
antipsychotic agents - adverse effects (2) 2
arthroplasty, replacement, hip (2) 2
association (2) 2
autism (2) 2
blood pressure - drug effects (2) 2
blood transfusion (2) 2
body mass index (2) 2
cardiac-surgery (2) 2
case-control studies (2) 2
children (2) 2
chromosomes (2) 2
cilia (2) 2
circular binary segmentation (2) 2
clonal deletion (2) 2
clozapine (2) 2
cognition disorders (2) 2
cohort (2) 2
complications (2) 2
depression (2) 2
dna mutational analysis (2) 2
energy metabolism (2) 2
environmental sciences (2) 2
europe (2) 2
facies (2) 2
fibroblasts - metabolism (2) 2
follow-up studies (2) 2
frameshift mutation (2) 2
gene expression (2) 2
genetic association studies (2) 2
genetic predisposition to disease (2) 2
genome-wide association study (2) 2
genomics (2) 2
haploinsufficiency (2) 2
haploinsufficiency - genetics (2) 2
hek293 cells (2) 2
high-throughput nucleotide sequencing (2) 2
homozygote (2) 2
hypertension - chemically induced (2) 2
hypertrichosis - genetics (2) 2
identification and classification (2) 2
in-situ hybridization (2) 2
infant, newborn (2) 2
more...
Language Language
Publication Date Publication Date
Click on a bar to filter by decade
Slide to change publication date range


by Jacquemont, S and Reymond, A and Zufferey, F and Harewood, L and Walters, R.G and Kutalik, Z and Martinet, D and Shen, Y and Valsesia, A and Beckmann, N.D and Thorleifsson, G and Belfiore, M and Bouquillon, S and Campion, D and Leeuw, N. de and Vries, L.B.A. de and Esko, T and Fernandez, B.A and Fernandez-Aranda, F and Fernandez-Real, J.M and Gratacos, M and Guilmatre, A and Hoyer, J and Jarvelin, M.R and Kooy, R.F and Kurg, A and Caignec, C. Le and Mannik, K and Platt, O.S and Sanlaville, D and Haelst, M.M. van and Villatoro Gomez, S and Walha, F and Wu, B.L and Yu, Y and Aboura, A and Addor, M.C and Alembik, Y and Antonarakis, S.E and Arveiler, B and Barth, M and Bednarek, N and Bena, F and Bergmann, S and Beri, M and Bernardini, L and Blaumeiser, B and Bonneau, D and Bottani, A and Boute, O and Brunner, H.G and Cailley, D and Callier, P and Chiesa, J and Chrast, J and Coin, L and Coutton, C and Cuisset, J.M and Cuvellier, J.C and David, A and Freminville, B. de and Delobel, B and Delrue, M.A and Demeer, B and Descamps, D and Didelot, G and Dieterich, K and Disciglio, V and Doco-Fenzy, M and nat, S and Duban-Bedu, B and Dubourg, C and El-Sayed Moustafa, J.S and Elliott, P and Faas, B.H.W and Faivre, L and Faudet, A and Fellmann, F and Ferrarini, A and Fisher, R and Flori, E and Forer, L and Gaillard, D and Gerard, M and Gieger, C and Gimelli, S and Gimelli, G and Grabe, H.J and Guichet, A and Guillin, O and Hartikainen, A.L and Heron, D and Hippolyte, L and Holder, M and Homuth, G and Isidor, B and Jaillard, S and Jaros, Z and Jimenez-Murcia, S and Helas, G.J and ...
Nature, ISSN 0028-0836, 2011, Volume 478, Issue 7367, pp. 97 - 102
Both obesity and being underweight have been associated with increased mortality. Underweight, defined as a body mass index (BMI) DEPENDENT PROBE AMPLIFICATION | FAILURE-TO-THRIVE | METABOLIC SYNDROME | RELATIVE QUANTIFICATION | SNP GENOTYPING DATA | HIDDEN-MARKOV MODEL | MULTIDISCIPLINARY SCIENCES | BODY-MASS INDEX | TIME QUANTITATIVE PCR | COPY NUMBER VARIATION | CIRCULAR BINARY SEGMENTATION | Humans | Middle Aged | Child, Preschool | RNA, Messenger - analysis | Head - anatomy & histology | Infant | Male | Developmental Disabilities - genetics | Gene Expression Profiling | North America | Obesity - genetics | Case-Control Studies | Young Adult | Mental Disorders - genetics | Aging | Gene Duplication - genetics | Adult | Female | Transcription, Genetic | Energy Metabolism - genetics | Child | Infant, Newborn | Chromosomes, Human, Pair 16 - genetics | Body Mass Index | Gene Dosage - genetics | Genetic Predisposition to Disease - genetics | Genome-Wide Association Study | Europe | RNA, Messenger - genetics | Mutation - genetics | Body Height - genetics | Thinness - genetics | Phenotype | Comparative Genomic Hybridization | Adolescent | Heterozygote | Aged | Cohort Studies | Sequence Deletion - genetics | Obesity | Chromosome mapping | Usage | Genetic variation | Genetic aspects | Cognition disorders | Research | Risk factors | Schizophrenia | Gender | Behavior | Gene expression | Bias | Life Sciences | Human health and pathology | Genetics | Endocrinology and metabolism | Gene Duplication | Developmental Disabilities | Sequence Deletion | Thinness | genetics | Genetic Predisposition to Disease | Head | Gene Dosage | analysis | Energy Metabolism | Mental Disorders | Chromosomes, Human, Pair 16 | Body Height | Mutation | anatomy & histology | RNA, Messenger
Journal Article
American Journal of Human Genetics, ISSN 0002-9297, 2015, Volume 96, Issue 5, pp. 784 - 796
Journal Article
Journal Article
American Journal of Hypertension, ISSN 0895-7061, 2/2012, Volume 25, Issue 2, pp. 223 - 228
Journal Article
Nature Genetics, ISSN 1061-4036, 2012, Volume 44, Issue 7, pp. 793 - 796
Journal Article
American Journal of Human Genetics, ISSN 0002-9297, 2015, Volume 97, pp. 99 - 110
Ablepharon macrostomia syndrome (AMS) and Barber-Say syndrome (BSS) are rare congenital ectodermal dysplasias characterized by similar clinical features. To... 
Journal Article
Nature Genetics, ISSN 1061-4036, 2012, Volume 44, pp. 793 - 796
Cantu syndrome is characterized by congenital hypertrichosis, distinctive facial features, osteochondrodysplasia and cardiac defects. By using family-based... 
Journal Article
by Walters, R.G and Jacquemont, S and Valsesia, A and De Smith, A.J and Martinet, D and Andersson, J and Falchi, M and Chen, F and Andrieux, J and Lobbens, S and Delobel, B and Stutzmann, F and El-Sayed Moustafa, J.S and Chèvre, J.-C and Lecoeur, C and Vatin, V and Bouquillon, S and Buxton, J.L and Boute, O and Holder-Espinasse, M and Cuisset, J.-M and Lemaitre, M.-P and Ambresin, A.-E and Brioschi, A and Gaillard, M and Giusti, V and Fellmann, F and Ferrarini, A and Hadjikhani, N and Campion, D and Guilmatre, A and Goldenberg, A and Calmels, N and Mandel, J.-L and Le Caignec, C and David, A and Isidor, B and Cordier, M.-P and Dupuis-Girod, S and Labalme, A and Sanlaville, D and Béri-Dexheimer, M and Jonveaux, P and Leheup, B and Õunap, K and Bochukova, E.G and Henning, E and Keogh, J and Ellis, R.J and MacDermot, K.D and Van Haelst, M.M and Vincent-Delorme, C and Plessis, G and Touraine, R and Philippe, A and Malan, V and Mathieu-Dramard, M and Chiesa, J and Blaumeiser, B and Kooy, R.F and Caiazzo, R and Pigeyre, M and Balkau, B and Sladek, R and Bergmann, S and Mooser, V and Waterworth, D and Reymond, A and Vollenweider, P and Waeber, G and Kurg, A and Palta, P and Esko, T and Metspalu, A and Nelis, M and Elliott, P and Hartikainen, A.-L and McCarthy, M.I and Peltonen, L and Carlsson, L and Jacobson, P and Sjöström, L and Huang, N and Hurles, M.E and O'Rahilly, S and Farooqi, I.S and Männik, K and Jarvelin, M.-R and Pattou, F and Meyre, D and Walley, A.J and Coin, L.J.M and Blakemore, A.I.F and Froguel, P and Beckmann, J.S and Sahlgrenska akademin and Institute of Medicine, Department of Molecular and Clinical Medicine and Institutionen för medicin, avdelningen för molekylär och klinisk medicin and Göteborgs universitet and Gothenburg University and Sahlgrenska Academy
Nature, ISSN 0028-0836, 02/2010, Volume 463, Issue 7281, pp. 671 - 675
Journal Article
Tijdschrift voor Kindergeneeskunde, ISSN 0376-7442, 08/2012, Volume 80, Issue 4, pp. 86 - 91
Journal Article
Cilia, ISSN 2046-2530, 2015, Volume 4, Issue 1, p. 8
BACKGROUND: Ciliopathies give rise to a multitude of organ-specific pathologies; obtaining relevant primary patient material is useful for both diagnostics and... 
Proteins | Pediatrics | Children | Medical centers | Health aspects
Journal Article