X
Search Filters
Format Format
Format Format
X
Sort by Item Count (A-Z)
Filter by Count
Journal Article (231) 231
Publication (31) 31
Book Chapter (4) 4
Reference (3) 3
Patent (2) 2
Conference Proceeding (1) 1
Dissertation (1) 1
more...
Subjects Subjects
Subjects Subjects
X
Sort by Item Count (A-Z)
Filter by Count
humans (122) 122
index medicus (112) 112
male (87) 87
female (86) 86
child (62) 62
clinical neurology (55) 55
child, preschool (54) 54
mutation (50) 50
infant (47) 47
genetics & heredity (46) 46
pediatrics (46) 46
adolescent (44) 44
life sciences (34) 34
children (28) 28
magnetic resonance imaging (28) 28
genetics (27) 27
neurology (26) 26
phenotype (26) 26
mutations (22) 22
brain - pathology (21) 21
epilepsy (20) 20
genetic aspects (20) 20
neurosciences (20) 20
research (19) 19
abridged index medicus (17) 17
adult (17) 17
medical research (17) 17
patients (17) 17
human genetics (16) 16
article (15) 15
biochemistry & molecular biology (15) 15
care and treatment (15) 15
disease (15) 15
health aspects (15) 15
infant, newborn (15) 15
brain (14) 14
diagnosis (14) 14
pedigree (14) 14
young adult (14) 14
gene mutations (13) 13
genes (13) 13
medicine, experimental (13) 13
retrospective studies (13) 13
risk factors (13) 13
follow-up studies (12) 12
gene (12) 12
molecular sequence data (12) 12
seizures (12) 12
expression (11) 11
proteins (11) 11
[sdv.gen.gh]life sciences [q-bio]/genetics/human genetics (10) 10
deficiency (10) 10
disease progression (10) 10
dna mutational analysis (10) 10
genetic disorders (10) 10
medicine, research & experimental (10) 10
muscular dystrophy (10) 10
mutation - genetics (10) 10
analysis (9) 9
animals (9) 9
base sequence (9) 9
childhood (9) 9
disorders (9) 9
gene expression (9) 9
intellectual disability (9) 9
medicine (9) 9
severity of illness index (9) 9
[sdv.gen]life sciences [q-bio]/genetics (8) 8
age of onset (8) 8
clinical trials (8) 8
dystrophy (8) 8
electroencephalography (8) 8
encephalopathy (8) 8
metabolism (8) 8
mutation, missense (8) 8
prognosis (8) 8
prospective studies (8) 8
studies (8) 8
age (7) 7
duchenne muscular dystrophy (7) 7
heterozygote (7) 7
interferon (7) 7
mental-retardation (7) 7
mice (7) 7
mitochondria (7) 7
phenotypes (7) 7
treatment outcome (7) 7
[ sdv.gen ] life sciences [q-bio]/genetics (6) 6
autism (6) 6
basal ganglia (6) 6
dystrophin - genetics (6) 6
electromyography (6) 6
france (6) 6
genotype (6) 6
immunology (6) 6
infantile spasms (6) 6
intellectual disability - genetics (6) 6
muscle, skeletal - pathology (6) 6
neurodegeneration (6) 6
physiological aspects (6) 6
more...
Language Language
Publication Date Publication Date
Click on a bar to filter by decade
Slide to change publication date range


Journal of Experimental Medicine, ISSN 0022-1007, 05/2017, Volume 214, Issue 5, pp. 1547 - 1555
Journal Article
European Journal of Paediatric Neurology, ISSN 1090-3798, 2017, Volume 21, pp. e13 - e13
Journal Article
Journal Article
The New England Journal of Medicine, ISSN 0028-4793, 12/2018, Volume 379, Issue 23, pp. 2275 - 2277
Journal Article
European Journal of Human Genetics, ISSN 1018-4813, 04/2013, Volume 21, Issue 4, pp. 381 - 385
Journal Article
Canadian Psychology/Psychologie canadienne, ISSN 0708-5591, 09/2019
Journal Article
Annals of Neurology, ISSN 0364-5134, 10/2010, Volume 68, Issue 4, pp. 511 - 520
Journal Article
Nature Genetics, ISSN 1061-4036, 11/2012, Volume 44, Issue 11, pp. 1255 - 1259
Journal Article
PLoS ONE, ISSN 1932-6203, 02/2009, Volume 4, Issue 2, p. e4415
Journal Article
by Wahbi, Karim and Ben Yaou, Rabah and Gandjbakhch, Estelle and Anselme, Frédéric and Gossios, Thomas and Lakdawala, Neal K and Stalens, Caroline and Sacher, Frédéric and Babuty, Dominique and Trochu, Jean-Noel and Moubarak, Ghassan and Savvatis, Kostantinos and Porcher, Raphaël and Laforêt, Pascal and Fayssoil, Abdallah and Marijon, Eloi and Stojkovic, Tanya and Béhin, Anthony and Leonard-Louis, Sarah and Sole, Guilhem and Labombarda, Fabien and Richard, Pascale and Metay, Corinne and Quijano-Roy, Susana and Dabaj, Ivana and Klug, Didier and Vantyghem, Marie-Christine and Chevalier, Philippe and Ambrosi, Pierre and Salort, Emmanuelle and Sadoul, Nicolas and Waintraub, Xavier and Chikhaoui, Khadija and Mabo, Philippe and Combes, Nicolas and Maury, Philippe and Sellal, Jean-Marc and Tedrow, Usha B and Kalman, Jonathan M and Vohra, Jitendra and Androulakis, Alexander F.A and Zeppenfeld, Katja and Thompson, Tina and Barnerias, Christine and Bécane, Henri-Marc and Bieth, Eric and Boccara, Franck and Bonnet, Damien and Bouhour, Françoise and Boulé, Stéphane and Brehin, Anne-Claire and Chapon, Françoise and Cintas, Pascal and Cuisset, Jean-Marie and Davy, Jean-Marc and De Sandre-Giovannoli, Annachiara and Demurger, Florence and Desguerre, Isabelle and Dieterich, Klaus and Durigneux, Julien and Echaniz-Laguna, Andoni and Eschalier, Romain and Ferreiro, Ana and Ferrer, Xavier and Francannet, Christine and Fradin, Mélanie and Gaborit, Bénédicte and Gay, Arnaud and Hagège, Albert and Isapof, Arnaud and Jeru, Isabelle and Juntas Morales, Raul and Lagrue, Emmanuelle and Lamblin, Nicolas and Lascols, Olivier and Laugel, Vincent and Lazarus, Arnaud and Leturcq, France and Levy, Nicolas and Magot, Armelle and Manel, Véronique and Martins, Raphaël and Mayer, Michèle and Mercier, Sandra and Meune, Christophe and Michaud, Maud and Minot-Myhié, Marie-Christine and Muchir, Antoine and Nadaj-Pakleza, Aleksandra and Péréon, Yann and Petiot, Philippe and Petit, Florence and Praline, Julien and Rollin, Anne and Sabouraud, Pascal and Sarret, Catherine and Schaeffer, Stéphane and Taithe, Frederic and Tard, Céline and Tiffreau, Vincent and ...
Circulation, ISSN 0009-7322, 07/2019, Volume 140, Issue 4, pp. 293 - 302
BACKGROUND:An accurate estimation of the risk of life-threatening (LT) ventricular tachyarrhythmia (VTA) in patients with LMNA mutations is crucial to select... 
ARRHYTHMIAS | implantable | CARDIAC & CARDIOVASCULAR SYSTEMS | death | PREVENTION | ventricular | SUBDISTRIBUTION | HAZARDS MODEL | sudden | LAMIN A/C GENE | PERIPHERAL VASCULAR DISEASE | tachycardia | MUTATIONS | defibrillators | Tachycardia | Models | Health risk assessment | Risk factors | Life Sciences | Human health and pathology | Genetics | Cardiology and cardiovascular system
Journal Article
Medecine Therapeutique Pediatrie, ISSN 1286-5494, 07/2014, Volume 17, Issue 3, pp. 156 - 159
Journal Article
Nature Genetics, ISSN 1061-4036, 2014, Volume 46, Issue 5, pp. 503 - 509
Journal Article