X
Search Filters
Format Format
Subjects Subjects
Subjects Subjects
X
Sort by Item Count (A-Z)
Filter by Count
humans (31) 31
index medicus (30) 30
genetics & heredity (29) 29
female (26) 26
male (25) 25
life sciences (21) 21
genetics (16) 16
phenotype (16) 16
mutation (15) 15
adult (14) 14
child (14) 14
adolescent (11) 11
intellectual disability (11) 11
gene (10) 10
clinical neurology (9) 9
diagnosis (8) 8
human genetics (8) 8
intellectual disabilities (8) 8
phenotypes (8) 8
biochemistry & molecular biology (7) 7
genes (7) 7
intellectual disability - genetics (7) 7
[sdv.gen.gh]life sciences [q-bio]/genetics/human genetics (6) 6
[sdv]life sciences [q-bio] (6) 6
genetic aspects (6) 6
genomics (6) 6
infant (6) 6
middle aged (6) 6
mutations (6) 6
child, preschool (5) 5
deletions (5) 5
dystonia (5) 5
epilepsy (5) 5
gene mutations (5) 5
genetic association studies (5) 5
genomes (5) 5
human health and pathology (5) 5
molecular sequence data (5) 5
patients (5) 5
research (5) 5
surgery (5) 5
[ sdv.gen ] life sciences [q-bio]/genetics (4) 4
[ sdv.gen.gh ] life sciences [q-bio]/genetics/human genetics (4) 4
[ sdv.neu ] life sciences [q-bio]/neurons and cognition [q-bio.nc] (4) 4
[sdv.gen]life sciences [q-bio]/genetics (4) 4
base sequence (4) 4
deep brain stimulation (4) 4
deletion (4) 4
gene frequency (4) 4
genotype (4) 4
genotype & phenotype (4) 4
mental-retardation (4) 4
neurons and cognition (4) 4
pedigree (4) 4
sequence deletion (4) 4
young adult (4) 4
[ sdv ] life sciences [q-bio] (3) 3
[sdv.neu]life sciences [q-bio]/neurons and cognition [q-bio.nc] (3) 3
animals (3) 3
article (3) 3
biochemistry, molecular biology (3) 3
dysplasia (3) 3
dystrophin - genetics (3) 3
expression (3) 3
functional neurosurgery (3) 3
genetic disorders (3) 3
genetic research (3) 3
genotypes (3) 3
globus pallidus (3) 3
haploinsufficiency (3) 3
heterozygote (3) 3
in situ hybridization, fluorescence (3) 3
infant, newborn (3) 3
localization (3) 3
mental retardation (3) 3
microcephaly - genetics (3) 3
molecular chaperones - genetics (3) 3
mosaicism (3) 3
neurosciences (3) 3
next-generation sequencing (3) 3
nuclear proteins - genetics (3) 3
pregnancy (3) 3
syndrome (3) 3
transcription (3) 3
[sdv.mhep]life sciences [q-bio]/human health and pathology (2) 2
abnormalities, multiple - genetics (2) 2
abridged index medicus (2) 2
aged (2) 2
alleles (2) 2
amino acid sequence (2) 2
amino acid substitution (2) 2
apoptosis regulatory proteins - genetics (2) 2
array-cgh (2) 2
biomedicine (2) 2
bradykinesia (2) 2
brain - metabolism (2) 2
brain - pathology (2) 2
breakpoints (2) 2
case report (2) 2
case-control studies (2) 2
more...
Language Language
Publication Date Publication Date
Click on a bar to filter by decade
Slide to change publication date range


Genetics in Medicine, ISSN 1098-3600, 09/2017, Volume 19, Issue 9, pp. 989 - 997
Journal Article
by Mignot, Cyril and McMahon, Aoife C and Bar, Claire and Campeau, Philippe M and Davidson, Claire and Buratti, Julien and Nava, Caroline and Jacquemont, Marie-Line and Tallot, Marilyn and Milh, Mathieu and Edery, Patrick and Marzin, Pauline and Barcia, Giulia and Barnerias, Christine and Besmond, Claude and Bienvenu, Thierry and Bruel, Ange-Line and Brunga, Ledia and Ceulemans, Berten and Coubes, Christine and Cristancho, Ana G and Cunningham, Fiona and Dehouck, Marie-Bertille and Donner, Elizabeth J and Duban-Bedu, Bénédicte and Dubourg, Christèle and Gardella, Elena and Gauthier, Julie and Geneviève, David and Gobin-Limballe, Stéphanie and Goldberg, Ethan M and Hagebeuk, Eveline and Hamdan, Fadi F and Hančárová, Miroslava and Hubert, Laurence and Ioos, Christine and Ichikawa, Shoji and Janssens, Sandra and Journel, Hubert and Kaminska, Anna and Keren, Boris and Koopmans, Marije and Lacoste, Caroline and Laššuthová, Petra and Lederer, Damien and Lehalle, Daphné and Marjanovic, Dragan and Métreau, Julia and Michaud, Jacques L and Miller, Kathryn and Minassian, Berge A and Morales, Joannella and Moutard, Marie-Laure and Munnich, Arnold and Ortiz-Gonzalez, Xilma R and Pinard, Jean-Marc and Prchalová, Darina and Putoux, Audrey and Quelin, Chloé and Rosen, Alyssa R and Roume, Joelle and Rossignol, Elsa and Simon, Marleen E. H and Smol, Thomas and Shur, Natasha and Shelihan, Ivan and Štěrbová, Katalin and Vyhnálková, Emílie and Vilain, Catheline and Soblet, Julie and Smits, Guillaume and Yang, Samuel P and van der Smagt, Jasper J and van Hasselt, Peter M and van Kempen, Marjan and Weckhuysen, Sarah and Helbig, Ingo and Villard, Laurent and Héron, Delphine and Koeleman, Bobby and Møller, Rikke S and Lesca, Gaetan and Helbig, Katherine L and Nabbout, Rima and Verbeek, Nienke E and Depienne, Christel
Genetics in Medicine, ISSN 1098-3600, 04/2019, Volume 21, Issue 4, pp. 837 - 849
Journal Article
by Mignot, Cyril and McMahon, Aoife C and Bar, Claire and Campeau, Philippe M and Davidson, Claire and Buratti, Julien and Nava, Caroline and Jacquemont, Marie-Line and Tallot, Marilyn and Milh, Mathieu and Edery, Patrick and Marzin, Pauline and Barcia, Giulia and Barnerias, Christine and Besmond, Claude and Bienvenu, Thierry and Bruel, Ange-Line and Brunga, Ledia and Ceulemans, Berten and Coubes, Christine and Cristancho, Ana G and Cunningham, Fiona and Dehouck, Marie-Bertille and Donner, Elizabeth J and Duban-Bedu, Bénédicte and Dubourg, Christèle and Gardella, Elena and Gauthier, Julie and Geneviève, David and Gobin-Limballe, Stéphanie and Goldberg, Ethan M and Hagebeuk, Eveline and Hamdan, Fadi F and Hančárová, Miroslava and Hubert, Laurence and Ioos, Christine and Ichikawa, Shoji and Janssens, Sandra and Journel, Hubert and Kaminska, Anna and Keren, Boris and Koopmans, Marije and Lacoste, Caroline and Laššuthová, Petra and Lederer, Damien and Lehalle, Daphné and Marjanovic, Dragan and Métreau, Julia and Michaud, Jacques L and Miller, Kathryn and Minassian, Berge A and Morales, Joannella and Moutard, Marie-Laure and Munnich, Arnold and Ortiz-Gonzalez, Xilma R and Pinard, Jean-Marc and Prchalová, Darina and Putoux, Audrey and Quelin, Chloé and Rosen, Alyssa R and Roume, Joelle and Rossignol, Elsa and Simon, Marleen E H and Smol, Thomas and Shur, Natasha and Shelihan, Ivan and Štěrbová, Katalin and Vyhnálková, Emílie and Vilain, Catheline and Soblet, Julie and Smits, Guillaume and Yang, Samuel P and van der Smagt, Jasper J and van Hasselt, Peter M and van Kempen, Marjan and Weckhuysen, Sarah and Helbig, Ingo and Villard, Laurent and Héron, Delphine and Koeleman, Bobby and Møller, Rikke S and Lesca, Gaetan and Helbig, Katherine L and Nabbout, Rima and Verbeek, Nienke E and Depienne, Christel
Genetics in medicine : official journal of the American College of Medical Genetics, ISSN 1098-3600, 08/2019, Volume 21, Issue 8, pp. 1897 - 1898
This Article was originally published under Nature Research's License to Publish, but has now been made available under a CC BY 4.0 license. The PDF and HTML... 
Journal Article
Brain, ISSN 0006-8950, 7/2007, Volume 130, Issue 7, pp. 1942 - 1956
Journal Article
Annals of the Rheumatic Diseases, ISSN 0003-4967, 07/2017, Volume 76, Issue 7, pp. 1191 - 1198
ObjectivesInflammasomes are multiprotein complexes that sense pathogens and trigger biological mechanisms to control infection. Nucleotide-binding... 
Arthritis | Inflammation | Fever Syndromes | Juvenile Idiopathic Arthritis | CELLS | SYSTEMIC-LUPUS-ERYTHEMATOSUS | DISEASES | SUBPOPULATIONS | FAMILIAL MEDITERRANEAN FEVER | JUVENILE IDIOPATHIC ARTHRITIS | MECHANISMS | INFLAMMASOMES | RHEUMATOLOGY | PYRIN | BLOOD | Interleukin-18 - immunology | Skin Diseases - genetics | Humans | Male | Precursor Cells, B-Lymphoid - immunology | Caspase 1 - immunology | Autoimmune Diseases - genetics | Netherlands | Apoptosis Regulatory Proteins - genetics | Female | Algeria | Child | Autoimmune Diseases - complications | Autoimmune Diseases - immunology | Hereditary Autoinflammatory Diseases - immunology | European Continental Ancestry Group | Skin Diseases - immunology | Arthritis, Juvenile - genetics | Syndrome | Hereditary Autoinflammatory Diseases - complications | Homozygote | Skin Diseases - complications | B-Lymphocytes - immunology | Arthritis, Juvenile - immunology | Adaptor Proteins, Signal Transducing - genetics | Adolescent | Arthritis, Juvenile - complications | Consanguinity | Mutation | African Continental Ancestry Group | Hereditary Autoinflammatory Diseases - genetics | Research | Gene mutations | Autoimmune diseases | NLRP proteins | Dyskeratosis | Pathogens | Cytokines | Transcription | Caspase | Patients | Inflammatory diseases | Caspase-1 | Interleukin 18 | Proteins | Vitiligo | Pyrin protein | Lymphocytes B | Rheumatoid arthritis | Gene mapping | Age | Immune system | Life Sciences | Human health and pathology | Rhumatology and musculoskeletal system
Journal Article
Human Mutation, ISSN 1059-7794, 12/2016, Volume 37, Issue 12, pp. 1329 - 1339
Journal Article
Genetics in medicine : official journal of the American College of Medical Genetics, ISSN 1098-3600, 04/2019, Volume 21, Issue 11, pp. 2504 - 2511
Next-generation sequencing has revealed the major impact of de novo variants (DNVs) in developmental disorders (DD) such as intellectual disability, autism,... 
Journal Article
by Mignot, Cyril and McMahon, Aoife and Bar, Claire and Campeau, Philippe and Davidson, David and Buratti, Julien and Nava, Caroline and Jacquemont, Marie-Line and Tallot, Marilyn and Milh, Mathieu and Edery, Patrick and Marzin, Pauline and Barcia, Giulia and Barnerias, Christine and Besmond, Claude and Bienvenu, Thierry and Bruel, Ange-Line and Brunga, Ledia and Ceulemans, Berten and Coubes, Christine and Cristancho, Ana and Cunningham, Fiona and Dehouck, Marie-Bertille and Donner, Elizabeth and Duban-Bedu, Bénédicte and Dubourg, Christèle and Gardella, Elena and Gauthier, Julie and Genevieve, David and Gobin-Limballe, Stéphanie and Goldberg, Ethan and Hagebeuk, Eveline and Hamdan, Fadi and Hančárová, Miroslava and Hubert, Laurence and Ioos, Christine and Ichikawa, Shoji and Janssens, Sandra and Journel, Hubert and Kaminska, Anna and Keren, Boris and Koopmans, Marije and Lacoste, Caroline and Laššuthová, Petra and Lederer, Damien and Lehalle, Daphne and Marjanovic, Dragan and Metreau, Julia and Michaud, Jacques and Miller, Kathryn and Minassian, Berge and Morales, Joannella and Moutard, Marie-Laure and Munnich, Arnold and Ortiz-Gonzalez, Xilma and Pinard, Jean-Marc and Prchalová, Darina and Putoux, Audrey and Quélin, Chloé and Rosen, Alyssa and Roume, Joëlle and Rossignol, Elsa and Simon, Marleen and Smol, Thomas and Shur, Natasha and Shelihan, Ivan and Štěrbová, Katalin and Vyhnálková, Emílie and Vilain, Catheline and Soblet, Julie and Smits, Guillaume and Yang, Samuel and Van Der Smagt, Jasper and van Hasselt, Peter and van Kempen, Marjan and Weckhuysen, Sarah and Helbig, Ingo and Villard, Laurent and Héron, Delphine and Koeleman, Bobby and Møller, Rikke and Lesca, Gaetan and Helbig, Katherine L and Nabbout, Rima and Verbeek, Nienke E and Depienne, Christel
Genetics in Medicine, ISSN 1098-3600, 09/2018, Volume 21, Issue 8, pp. 1897 - 1898
Journal Article
Journal Article
JOURNAL OF NEUROSURGERY, ISSN 0022-3085, 07/2014, Volume 121, Issue 1, pp. 114 - 122
Journal Article
Journal of Medical Genetics, ISSN 0022-2593, 11/2011, Volume 48, Issue 11, pp. 741 - 751
Journal Article
Genetics in Medicine, ISSN 1098-3600, 01/2016, Volume 18, Issue 1, pp. 49 - 56
Journal Article