X
Search Filters
Format Format
Format Format
X
Sort by Item Count (A-Z)
Filter by Count
Journal Article (92) 92
Publication (19) 19
Conference Proceeding (6) 6
Newspaper Article (6) 6
Report (2) 2
Book / eBook (1) 1
Magazine Article (1) 1
more...
Subjects Subjects
Subjects Subjects
X
Sort by Item Count (A-Z)
Filter by Count
index medicus (36) 36
humans (31) 31
female (22) 22
genetics & heredity (17) 17
male (16) 16
mutation (15) 15
genetic aspects (13) 13
child, preschool (12) 12
phenotype (12) 12
adult (11) 11
child (11) 11
gene expression (11) 11
article (10) 10
medicine (10) 10
analysis (9) 9
genetics (9) 9
intellectual disability (9) 9
neurosciences (9) 9
research (9) 9
adolescent (8) 8
clinical neurology (8) 8
epilepsy (8) 8
genes (8) 8
genomics (8) 8
risk factors (8) 8
animals (7) 7
gene expression profiling (7) 7
genetic research (7) 7
laser capture microdissection (7) 7
life sciences (7) 7
mutations (7) 7
oligonucleotide array sequence analysis (7) 7
proteins (7) 7
science (7) 7
framework (6) 6
mice (6) 6
middle aged (6) 6
multidisciplinary sciences (6) 6
affymetrix microarrays (5) 5
aged (5) 5
biochemistry & molecular biology (5) 5
biology (5) 5
de-novo mutations (5) 5
encephalopathy (5) 5
expression profiling (5) 5
gene mutations (5) 5
gene-expression (5) 5
genetic variation (5) 5
infant (5) 5
neuron (5) 5
phenotypes (5) 5
protein (5) 5
research article (5) 5
abridged index medicus (4) 4
aged, 80 and over (4) 4
deoxyribonucleic acid--dna (4) 4
diagnosis (4) 4
disease (4) 4
dna (4) 4
epigenetics (4) 4
gene (4) 4
gene expression regulation (4) 4
genotype (4) 4
genotype & phenotype (4) 4
health aspects (4) 4
hippocampus (4) 4
intellectual disabilities (4) 4
nerve tissue proteins - genetics (4) 4
neurodevelopmental disorders (4) 4
neurofibrillary tangles (4) 4
neurons (4) 4
ophthalmology (4) 4
pediatrics (4) 4
physiological aspects (4) 4
polymorphism, single nucleotide (4) 4
reverse transcriptase polymerase chain reaction (4) 4
rna, messenger - metabolism (4) 4
seizures (4) 4
studies (4) 4
young adult (4) 4
228 (3) 3
age (3) 3
algorithms (3) 3
apoptosis (3) 3
blood (3) 3
brain - metabolism (3) 3
brain - pathology (3) 3
cell biology (3) 3
children (3) 3
cohort studies (3) 3
deletion (3) 3
deoxyribonucleic acid (3) 3
development and progression (3) 3
diseases (3) 3
disorders (3) 3
dna microarrays (3) 3
dna sequencing (3) 3
dystonia (3) 3
epilepsy - genetics (3) 3
etiology (3) 3
more...
Library Location Library Location
Language Language
Publication Date Publication Date
Click on a bar to filter by decade
Slide to change publication date range


PLoS ONE, ISSN 1932-6203, 2011, Volume 6, Issue 2, p. e16715
Journal Article
Journal Article
Physiological Genomics, ISSN 1094-8341, 04/2008, Volume 33, Issue 2, pp. 240 - 256
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 05/2018, Volume 102, Issue 5, pp. 995 - 1007
Journal Article
PLoS ONE, ISSN 1932-6203, 07/2015, Volume 10, Issue 7, p. e0131797
A 3-year-old female patient presenting with an unknown syndrome of a neonatal progeroid appearance, lipodystrophy, pulmonary hypertension, cutis marmorata,... 
ALIGNMENT | DYSTROPHY | MULTIDISCIPLINARY SCIENCES | SECONDARY | HUMANS | CONGENITAL GENERALIZED LIPODYSTROPHY | GENETIC-VARIANTS | PHENOTYPES | HYPERTENSION | DEFICIENCY | CAVEOLIN-1 | Severity of Illness Index | Lipodystrophy, Congenital Generalized - genetics | Frameshift Mutation | Humans | Caveolin 1 - genetics | Child, Preschool | Fetal Growth Retardation - genetics | Phosphatidate Phosphatase - genetics | Codon, Nonsense | Progeria - genetics | Acyltransferases - genetics | Fetal Growth Retardation - pathology | Phenotype | Lipodystrophy, Congenital Generalized - pathology | Sequence Analysis, RNA | Progeria - pathology | Female | High-Throughput Nucleotide Sequencing | Caveolin-1 | Neonates | Membranes | Senescence | Adipose tissue | Genomics | Genes | Heterozygotes | Genomes | Biosynthesis | Mitochondrial DNA | Adipocytes | Kinases | DNA repair | Western blotting | Gene sequencing | Defects | Lysates | Signal transduction | Parents & parenting | Consent | Peripheral blood | Aging | Fibroblasts | Physiology | Deoxyribonucleic acid--DNA | Age | Hypertension | Congenital diseases | Caveolae | Review boards | Metabolism | Ribonucleic acid--RNA | Pulmonary hypertension | DNA biosynthesis | Plasma membranes | Lipodystrophy | Insulin resistance | Skin | Mutation | Apoptosis | RNA | Deoxyribonucleic acid | Ribonucleic acid | DNA
Journal Article
by Siekierska, Aleksandra and Stamberger, Hannah and Deconinck, Tine and Oprescu, Stephanie N and Partoens, Michèle and Zhang, Yifan and Sourbron, Jo and Adriaenssens, Elias and Mullen, Patrick and Wiencek, Patrick and Hardies, Katia and Lee, Jeong-Soo and Giong, Hoi-Khoanh and Distelmaier, Felix and Elpeleg, Orly and Helbig, Katherine L and Hersh, Joseph and Isikay, Sedat and Jordan, Elizabeth and Karaca, Ender and Kecskes, Angela and Lupski, James R and Kovacs-Nagy, Reka and May, Patrick and Narayanan, Vinodh and Pendziwiat, Manuela and Ramsey, Keri and Rangasamy, Sampathkumar and Shinde, Deepali N and Spiegel, Ronen and Timmerman, Vincent and von Spiczak, Sarah and Helbig, Ingo and Balak, Chris and Belnap, Newell and Claasen, Ana and Courtright, Amanda and de Both, Matt and Huentelman, Matthew J and Naymik, Marcus and Richholt, Ryan and Siniard, Ashley L and Szelinger, Szabolcs and Craig, David W and Schrauwen, Isabelle and Afawi, Zaid and Balling, Rudi and Baulac, Stéphanie and Barišić, Nina and Caglayan, Hande S and Craiu, Dana and Guerrero-López, Rosa and Guerrini, Renzo and Hjalgrim, Helle and Jähn, Johanna and Klein, Karl Martin and Leguern, Eric and Lemke, Johannes R and Lerche, Holger and Marini, Carla and Møller, Rikke S and Muhle, Hiltrud and Rosenow, Felix and Serratosa, Jose and Suls, Arvid and Stephani, Ulrich and Štěrbová, Katalin and Striano, Pasquale and Zara, Federico and Weckhuysen, Sarah and Francklyn, Christopher and Antonellis, Anthony and de Witte, Peter and De Jonghe, Peter and C4RCD Res Grp and AR Working Grp EuroEPINOMICS RES and AR working group of the EuroEPINOMICS RES Consortium and C4RCD Research Group
Nature Communications, ISSN 2041-1723, 12/2019, Volume 10, Issue 1, pp. 708 - 15
Aminoacyl tRNA synthetases (ARSs) link specific amino acids with their cognate transfer RNAs in a critical early step of protein translation. Mutations in ARSs... 
MUTATIONS CAUSE | HYPOMYELINATION | BIOGENESIS | MECHANISM | ILAE COMMISSION | MULTIDISCIPLINARY SCIENCES | GENES | PHENOTYPE | ONSET | TRNA(VAL) | TRANSFER-RNA-SYNTHETASE | Yeast | tRNA | Epilepsy | Amino acids | Zebrafish | Microcephaly | Neurodevelopmental disorders | Proteins | Neurological diseases | Microencephaly | Encephalopathy | Complementation | Mutation | Age
Journal Article
F1000Research, ISSN 2046-1402, 2017, Volume 6, p. 553
Mutations disrupting presynaptic protein TBC1D24 are associated with a variable neurological phenotype, including DOORS syndrome, myoclonic epilepsy,... 
Intellectual disabilities | Medical Genetics
Journal Article
by Zawerton, Ash and Mignot, Cyril and Sigafoos, Ashley and Blackburn, Patrick R and Haseeb, Abdul and McWalter, Kirsty and Ichikawa, Shoji and Nava, Caroline and Keren, Boris and Charles, Perrine and Marey, Isabelle and Tabet, Anne-Claude and Levy, Jonathan and Perrin, Laurence and Hartmann, Andreas and Lesca, Gaetan and Schluth-Bolard, Caroline and Monin, Pauline and Dupuis-Girod, Sophie and Guillen Sacoto, Maria J and Schnur, Rhonda E and Zhu, Zehua and Poisson, Alice and El Chehadeh, Salima and Alembik, Yves and Bruel, Ange-Line and Lehalle, Daphné and Nambot, Sophie and Moutton, Sébastien and Odent, Sylvie and Jaillard, Sylvie and Dubourg, Christèle and Hilhorst-Hofstee, Yvonne and Barbaro-Dieber, Tina and Ortega, Lucia and Bhoj, Elizabeth J and Masser-Frye, Diane and Bird, Lynne M and Lindstrom, Kristin and Ramsey, Keri M and Narayanan, Vinodh and Fassi, Emily and Willing, Marcia and Cole, Trevor and Salter, Claire G and Akilapa, Rhoda and Vandersteen, Anthony and Canham, Natalie and Rump, Patrick and Gerkes, Erica H and Klein Wassink-Ruiter, Jolien S and Bijlsma, Emilia and Hoffer, Mariëtte J. V and Vargas, Marcelo and Wojcik, Antonina and Cherik, Florian and Francannet, Christine and Rosenfeld, Jill A and Machol, Keren and Scott, Daryl A and Bacino, Carlos A and Wang, Xia and Clark, Gary D and Bertoli, Marta and Zwolinski, Simon and Thomas, Rhys H and Akay, Ela and Chang, Richard C and Bressi, Rebekah and Sanchez Russo, Rossana and Srour, Myriam and Russell, Laura and Goyette, Anne-Marie E and Dupuis, Lucie and Mendoza-Londono, Roberto and Karimov, Catherine and Joseph, Maries and Nizon, Mathilde and Cogné, Benjamin and Kuechler, Alma and Piton, Amélie and Klee, Eric W and Lefebvre, Véronique and Clark, Karl J and Depienne, Christel and Deciphering Developmental Disorder Study
Genetics in Medicine, ISSN 1098-3600, 10/2019
PURPOSE:Lamb-Shaffer syndrome (LAMSHF) is a neurodevelopmental disorder described in just over two dozen patients with heterozygous genetic alterations... 
Life Sciences | Genetics
Journal Article