X
Search Filters
Format Format
Subjects Subjects
Subjects Subjects
X
Sort by Item Count (A-Z)
Filter by Count
index medicus (100) 100
humans (95) 95
female (65) 65
genetics & heredity (64) 64
male (58) 58
adult (29) 29
mutation (28) 28
phenotype (24) 24
child (23) 23
medical and health sciences (21) 21
medicin och hälsovetenskap (21) 21
analysis (20) 20
biochemistry & molecular biology (19) 19
child, preschool (19) 19
genetics (19) 19
life sciences (19) 19
adolescent (18) 18
genes (18) 18
middle aged (17) 17
infant (15) 15
mutations (15) 15
base sequence (14) 14
chromosome deletion (14) 14
comparative genomic hybridization (14) 14
dermatology (14) 14
young adult (14) 14
cell biology (13) 13
gene (13) 13
molecular sequence data (13) 13
genetic aspects (12) 12
aged (11) 11
albinism (11) 11
in situ hybridization, fluorescence (11) 11
medical education (11) 11
oculocutaneous albinism (11) 11
risk factors (11) 11
clinical medicine (10) 10
cytogenetics (10) 10
diagnosis (10) 10
gene deletion (10) 10
klinisk medicin (10) 10
obesity (10) 10
array-cgh (9) 9
children (9) 9
genetic predisposition to disease (9) 9
global health (9) 9
research (9) 9
rubinstein-taybi syndrome (9) 9
syndrome (9) 9
abnormalities, multiple - genetics (8) 8
abridged index medicus (8) 8
animals (8) 8
cohort studies (8) 8
genotype (8) 8
health sciences (8) 8
hälsovetenskaper (8) 8
pedigree (8) 8
phenotypes (8) 8
pregnancy (8) 8
adults (7) 7
albinism, oculocutaneous - genetics (7) 7
developmental delay (7) 7
disease (7) 7
epidemiology (7) 7
expression (7) 7
intellectual disability (7) 7
intellectual disability - genetics (7) 7
karyotyping (7) 7
medical genetics (7) 7
medicine, general & internal (7) 7
mutation - genetics (7) 7
oncology (7) 7
patients (7) 7
proteins (7) 7
rubinstein-taybi syndrome - genetics (7) 7
sequence deletion (7) 7
article (6) 6
blood pressure (6) 6
chromosome mapping (6) 6
chromosomes, human, pair 11 (6) 6
cloning, molecular (6) 6
creb-binding protein - genetics (6) 6
deletion (6) 6
dna mutational analysis (6) 6
epilepsy (6) 6
gene mutations (6) 6
genomics (6) 6
heterozygote (6) 6
human genetics (6) 6
internal medicine (6) 6
locus (6) 6
mental-retardation (6) 6
neurosciences (6) 6
prevalence (6) 6
public, environmental & occupational health (6) 6
skin (6) 6
abnormalities (5) 5
abnormalities, multiple - pathology (5) 5
amino acid sequence (5) 5
association (5) 5
more...
Language Language
Publication Date Publication Date
Click on a bar to filter by decade
Slide to change publication date range


by Abarca-Gómez, Leandra and Abdeen, Ziad A and Hamid, Zargar Abdul and Abu-Rmeileh, Niveen M and Acosta-Cazares, Benjamin and Acuin, Cecilia and Adams, Robert J and Aekplakorn, Wichai and Afsana, Kaosar and Aguilar-Salinas, Carlos A and Agyemang, Charles and Ahmadvand, Alireza and Ahrens, Wolfgang and Ajlouni, Kamel and Akhtaeva, Nazgul and Al-Hazzaa, Hazzaa M and Al-Othman, Amani Rashed and Al-Raddadi, Rajaa and Al Buhairan, Fadia and Al Dhukair, Shahla and Ali, Osman and Ali, Mohamed M and Alkerwi, Ala'a and Alvarez-Pedrerol, Mar and Aly, Eman and Amarapurkar, Deepak N and Amouyel, Philippe and Amuzu, Antoinette and Andersen, Lars Bo and Anderssen, Sigmund A and Andrade, Dolores S and Ängquist, Lars H and Anjana, Ranjit Mohan and Aounallah-Skhiri, Hajer and Araújo, Joana and Ariansen, Inger and Aris, Tahir and Arlappa, Nimmathota and Arveiler, Dominique and Aryal, Krishna K and Aspelund, Thor and Assah, Felix K and Assunção, Maria Cecília F and Aung, May Soe and Avdicová, Mária and Azevedo, Ana and Azizi, Fereidoun and Babu, Bontha V and Bahijri, Suhad and Baker, Jennifer L and Balakrishna, Nagalla and Bamoshmoosh, Mohamed and Banach, Maciej and Bandosz, Piotr and Banegas, José R and Barbagallo, Carlo M and Barceló, Alberto and Barkat, Amina and Barros, Aluisio JD and Barros, Mauro VG and Bata, Iqbal and Batieha, Anwar M and Batista, Rosangela L and Batyrbek, Assembekov and Baur, Louise A and Beaglehole, Robert and Romdhane, Habiba Ben and Benedics, Judith and Benet, Mikhail and Bennett, James E and Bernabe-Ortiz, Antonio and Bernotiene, Gailute and Bettiol, Heloisa and Bhagyalaxmi, Aroor and Bharadwaj, Sumit and Bhargava, Santosh K and Bhatti, Zaid and Bhutta, Zulfiqar A and Bi, Hongsheng and Bi, Yufang and Biehl, Anna and Bikbov, Mukharram and Bista, Bihungum and Bjelica, Dusko J and Bjerregaard, Peter and Bjertness, Marius B and Bjertness, Espen and Björkelund, Cecilia and Blokstra, Anneke and Bo, Simona and Bobak, Martin and Boddy, Lynne M and Boehm, Bernhard O and Boeing, Heiner and Boggia, Jose G and Boissonnet, Carlos P and Bonaccio, Marialaura and Bongard, Vanina and Bovet, Pascal and Braeckevelt, Lien and ... and NCD Risk Factor Collaboration (NCD-RisC) and Högskolan Dalarna and Akademin Utbildning, hälsa och samhälle and Omvårdnad
The Lancet, ISSN 0140-6736, 12/2017, Volume 390, Issue 10113, pp. 2627 - 2642
Journal Article
Journal of Medical Genetics, ISSN 0022-2593, 11/2016, Volume 53, Issue 11, pp. 752 - 760
BackgroundOculo-auriculo-vertebral spectrum (OAVS) is a developmental disorder involving first and second branchial arches derivatives, mainly characterised by... 
GOLDENHAR SYNDROME | NERVOUS-SYSTEM | OCULOAURICULOVERTEBRAL SPECTRUM | TRANSGENIC MOUSE | ZINC-FINGER | GENETICS & HEREDITY | AURICULO-VERTEBRAL SPECTRUM | HEMIFACIAL MICROSOMIA | OF-THE-LITERATURE | EXPRESSION | RETINOIC ACID EMBRYOPATHY | Transcription factors | Mutation (Biology) | Research
Journal Article
by Debette, S and Kamatani, Y and Metso, T.M and Kloss, M and Chauhan, G and Engelter, S.T and Pezzini, S and Thijs, V and Markus, H.S and Dichgans, M and Wolf, C and Dittrich, R and Touze, E and Southerland, A.M and Samson, Y and Abboud, S and Bejot, Y and Caso, V and Bersano, A and Gschwendtner, A and Sessa, M and Cole, J and Lamy, C and Medeiros, E and Beretta, S and Bonati, L.H and Grau, A.J and Michel, P and Majersik, J.J and Sharma, P and Kalashnikova, L and Nazarova, M and Dobrynina, L and Bartels, E and Guillon, B and Herik, E.G. van den and Fernandez-Cadenas, I and Jood, K and Nalls, M.A and Leeuw, H.F. de and Jern, C and Cheng, Y.C and Werner, I and Metso, A.J and Lichy, C and Lyrer, P.A and Brandt, T and Boncoraglio, G.B and Wichmann, H.E and Gieger, C and Johnson, A.D and Bottcher, T and Castellano, M and Arveiler, D and Ikram, M.A and Breteler, M.M and Padovani, A and Meschia, J.F and Kuhlenbaumer, G and Rolfs, A and Worrall, B.B and Ringelstein, E.B and Zelenika, D and Tatlisumak, T and Lathrop, M and Leys, D and Amouyel, P and Dallongeville, J and CADISP Grp and Int Stroke Genetics Consortium and International Stroke Genetics Consortium and CADISP Group and the CADISP group and Institutionen för neurovetenskap och fysiologi, sektionen för klinisk neurovetenskap och rehabilitering and Sahlgrenska akademin and Göteborgs universitet and Gothenburg University and Sahlgrenska Academy and Institute of Neuroscience and Physiology, Department of Clinical Neuroscience and Rehabilitation
Nature Genetics, ISSN 1061-4036, 2015, Volume 47, Issue 1, pp. 78 - 83
Cervical artery dissection (CeAD), a mural hematoma in a carotid or vertebral artery, is a major cause of ischemic stroke in young adults although relatively... 
VASCULAR RISK-FACTORS | IDENTIFIES 3 | METAANALYSIS | AORTIC-ANEURYSMS | GENE | GENETICS & HEREDITY | INTRACRANIAL ANEURYSM | LOCI | ISCHEMIC-STROKE | MIGRAINE | GENOME-WIDE ASSOCIATION | Myocardial Infarction - epidemiology | Follow-Up Studies | Humans | Middle Aged | Brain Ischemia - genetics | Microfilament Proteins - physiology | Male | Vertebral Artery Dissection - genetics | Adult | Female | Hypertension - epidemiology | Odds Ratio | Microfilament Proteins - genetics | Hypercholesterolemia - epidemiology | Migraine Disorders - epidemiology | Brain Ischemia - epidemiology | Genetic Predisposition to Disease | Genome-Wide Association Study | Risk Factors | Genetic Pleiotropy | Vertebral Artery Dissection - epidemiology | Carotid Artery, Internal, Dissection - epidemiology | Carotid Artery, Internal, Dissection - genetics | Obesity - epidemiology | Alleles | Polymorphism, Single Nucleotide | Finland - epidemiology | Genetic aspects | Research | Genetic susceptibility | Genomics | Risk factors | Hematoma | Studies | Stroke | Genealogy | Genomes | Genetic testing | Dissection | Chromosomes | Deoxyribonucleic acid--DNA | Meta-analysis | Index Medicus | Bioengineering | Brain Ischemia | Neurons and Cognition | Neurobiology | Computer Vision and Pattern Recognition | Medical Imaging | Life Sciences | Carotid Artery, Internal, Dissection | Image Processing | Imaging | Computer Science | Hypertension | Obesity | Vertebral Artery Dissection | Signal and Image processing | Myocardial Infarction | Hypercholesterolemia | Microfilament Proteins | Migraine Disorders | Finland | Engineering Sciences | Medicinska grundvetenskaper | Basic Medicine
Journal Article
Presse Medicale, ISSN 0755-4982, 07/2017, Volume 46, Issue 7-8, pp. 648 - 654
Albinism is a genetic disease affecting 1/17,000 person worldwide. It constitutes the second cause of congenital loss of visual acuity after optic atrophy.... 
Journal Article
Epilepsia, ISSN 0013-9580, 10/2011, Volume 52, Issue 10, pp. 1820 - 1827
Journal Article
La Presse Médicale, ISSN 0755-4982, 07/2017, Volume 46, Issue 7-8, pp. 648 - 654
L’albinisme est une affection génétique touchant environ 1/17 000 personnes à travers le monde, et constitue la deuxième cause la plus fréquente de perte... 
Journal Article
Journal of Medical Genetics, ISSN 0022-2593, 12/2007, Volume 44, Issue 12, pp. 763 - 771
Journal Article