X
Search Filters
Format Format
Subjects Subjects
Subjects Subjects
X
Sort by Item Count (A-Z)
Filter by Count
index medicus (5) 5
mutation (3) 3
adolescent (2) 2
adult (2) 2
biochemistry, genetics and molecular biology (2) 2
chemistry (2) 2
child (2) 2
child, preschool (2) 2
disorders (2) 2
encephalopathy (2) 2
epilepsy (2) 2
female (2) 2
hereditary diseases (2) 2
humans (2) 2
hypotonia (2) 2
infant (2) 2
ion channels in the nervous system (2) 2
male (2) 2
neurodevelopmental disorders (2) 2
next-generation sequencing (2) 2
phenotype (2) 2
phenotypes (2) 2
physics and astronomy (2) 2
seizures (2) 2
synaptic development (2) 2
workflow (2) 2
young adult (2) 2
abnormalities (1) 1
aged (1) 1
algorithms (1) 1
annotations (1) 1
article (1) 1
ataxia (1) 1
autism (1) 1
bioinformatics (1) 1
biology and life sciences (1) 1
brain - diagnostic imaging (1) 1
calcium (1) 1
calcium ions (1) 1
channels (1) 1
clinical genetics (1) 1
clonal deletion (1) 1
cohort studies (1) 1
creatine (1) 1
creatine kinase (1) 1
de-novo mutations (1) 1
defects (1) 1
deficient (1) 1
dehydrogenase (1) 1
dehydrogenases (1) 1
delay (1) 1
delayed gross motor development (1) 1
diagnosis (1) 1
diagnostic systems (1) 1
dysphagia (1) 1
electric potential (1) 1
emg (1) 1
emg: myopathic abnormalities (1) 1
enzymatic activity (1) 1
episodic generalized hypotonia (1) 1
exons (1) 1
extracellular matrix (1) 1
fibroblasts (1) 1
fusion protein (1) 1
gene expression (1) 1
gene fusion (1) 1
gene sequencing (1) 1
genetic association studies - methods (1) 1
genetic diseases, inborn - diagnosis (1) 1
genetic diseases, inborn - genetics (1) 1
genetic disorders (1) 1
genetic engineering (1) 1
genetic markers (1) 1
genetic predisposition to disease (1) 1
genetic screening (1) 1
genomes (1) 1
genomics (1) 1
glucose (1) 1
glucose dehydrogenase (1) 1
glur2 (1) 1
glutamatergic transmission (1) 1
glycobiology (1) 1
glycolipids (1) 1
grin2a (1) 1
health sciences (1) 1
heredity (1) 1
heterozygote (1) 1
identification methods (1) 1
inheritance patterns (1) 1
intellectual disability (1) 1
intellectual disability - genetics (1) 1
kinases (1) 1
laboratories (1) 1
loss of function mutation (1) 1
lumbar kyphoscoliosis (1) 1
lung diseases (1) 1
magnetic resonance imaging (1) 1
mechanism (1) 1
medicine and health sciences (1) 1
mice (1) 1
more...
Language Language
Publication Date Publication Date
Click on a bar to filter by decade
Slide to change publication date range


Nature communications, ISSN 2041-1723, 12/2019, Volume 10, Issue 1, pp. 3094 - 16
Journal Article
by Hengel, Holger and Bosso-Lefèvre, C. lia and Grady, George and Szenker-Ravi, Emmanuelle and Li, Hankun and Pierce, Sarah and Lebigot, Élise and Tan, Thong-Teck and Eio, Michelle Y and Narayanan, Gunaseelan and Utami, Kagistia Hana and Yau, Monica and Handal, Nader and Deigendesch, Werner and Keimer, Reinhard and Marzouqa, Hiyam M and Gunay-Aygun, Meral and Muriello, Michael J and Verhelst, Helene and Weckhuysen, Sarah and Mahida, Sonal and Naidu, Sakkubai and Thomas, Terrence G and Lim, Jiin Ying and Tan, Ee Shien and Haye, Damien and Willemsen, Michèl A. A. P and Oegema, Renske and Mitchell, Wendy G and Pierson, Tyler Mark and Anews, Marisa V and Willing, Marcia C and Rodan, Lance H and Barakat, Tahsin Stefan and van Slegtenhorst, Marjon and Gavrilova, Ralitza H and Martinelli, Diego and Gilboa, Tal and Tamim, Abdullah M and Hashem, Mais O and AlSayed, Moeenaldeen D and Abdulrahim, Maha M and Al-Owain, Mohammed and Awaji, Ali and Mahmoud, Adel A. H and Faqeih, Eissa A and Asmari, Ali Al and Algain, Sulwan M and Jad, Lamyaa A and Aldhalaan, Hesham M and Helbig, Ingo and Koolen, David A and Riess, Angelika and Kraegeloh-Mann, Ingeborg and Bauer, Peter and Gulsuner, Suleyman and Stamberger, Hannah and Ng, Alvin Yu Jin and Tang, Sha and Tohari, Sumanty and Keren, Boris and Schultz-Rogers, Laura E and Klee, Eric W and Barresi, Sabina and Tartaglia, Marco and Mor-Shaked, Hagar and Maddirevula, Sateesh and Begtrup, Amber and Telegrafi, Aida and Pfundt, Rolph and Schüle, Rebecca and Ciruna, Brian and Bonnard, Carine and Pouladi, Mahmoud A and Stewart, James C and Claridge-Chang, Adam and Lefeber, Dirk J and Alkuraya, Fowzan S and Mathuru, Ajay S and Venkatesh, Byrappa and Barycki, Joseph J and Simpson, Melanie A and Jamuar, Saumya S and Schöls, Ludger and Reversade, Bruno
Nature communications, ISSN 2041-1723, 2020, Volume 11, Issue 1, pp. 595 - 16
Developmental epileptic encephalopathies are devastating disorders characterized by intractable epileptic seizures and developmental delay. Here, we report an... 
Dehydrogenases | Oligomerization | Proteoglycans | Stability | Oxidoreductase | Epilepsy | Zebrafish | Glucose | Dehydrogenase | Delay | UDP-glucose 6-dehydrogenase | Glucose dehydrogenase | Hypotonia | Organoids | Enzymatic activity | Glycolipids | Encephalopathy | Fibroblasts | Neural stem cells | Extracellular matrix | Mutation | Seizures
Journal Article
Nature Communications, ISSN 2041-1723, 12/2019, Volume 10, Issue 1
AMPA receptors (AMPARs) are tetrameric ligand-gated channels made up of combinations of GluA1-4 subunits encoded by GRIA1-4 genes. GluA2 has an especially... 
Chemistry(all) | Biochemistry, Genetics and Molecular Biology(all) | yes | Physics and Astronomy(all)
Journal Article
Human molecular genetics, ISSN 0964-6906, 03/2020, Volume 29, Issue 5, pp. 845 - 858
SPECC1L mutations have been identified in patients with rare atypical orofacial clefts and with syndromic cleft lip and/or palate (CL/P). These mutations... 
Journal Article
No results were found for your search.

Cannot display more than 1000 results, please narrow the terms of your search.