X
Search Filters
Format Format
Subjects Subjects
Subjects Subjects
X
Sort by Item Count (A-Z)
Filter by Count
humans (15) 15
index medicus (14) 14
genetics & heredity (13) 13
male (12) 12
female (11) 11
physics (11) 11
114 physical sciences (9) 9
experiment (9) 9
nuclear and particle physics. atomic energy. radioactivity (9) 9
adolescent (8) 8
child (8) 8
hadron-hadron scattering (8) 8
high energy physics (8) 8
mutation (8) 8
nuclear and high energy physics (7) 7
[phys.hexp]physics [physics]/high energy physics - experiment [hep-ex] (6) 6
adult (6) 6
high energy physics - experiment (6) 6
cern lhc coll (5) 5
child, preschool (5) 5
elementary particles, quantum field theory (5) 5
experimental results (5) 5
genetic aspects (5) 5
intellectual disability - genetics (5) 5
nuclear experiment (5) 5
phenomenology (5) 5
phenotype (5) 5
quantum field theories, string theory (5) 5
classical and quantum gravitation, relativity theory (4) 4
gene (4) 4
genetics (4) 4
infant (4) 4
patient (4) 4
physics of elementary particles and fields (4) 4
quantum physics (4) 4
short stature (4) 4
x-linked intellectual disability (4) 4
young adult (4) 4
13000 gev-cms (3) 3
exome (3) 3
family (3) 3
genes (3) 3
genetic association studies (3) 3
life sciences (3) 3
medical education (3) 3
mental-retardation (3) 3
microcephaly - genetics (3) 3
middle aged (3) 3
mutation, missense (3) 3
p p: colliding beams (3) 3
p p: scattering (3) 3
pedigree (3) 3
physics - high energy physics - experiment (3) 3
physics and astronomy (3) 3
syndrome (3) 3
zebrafish (3) 3
abnormalities (2) 2
animals (2) 2
au+au (2) 2
brain - pathology (2) 2
channel cross section: branching ratio: upper limit (2) 2
cms (2) 2
developmental delay (2) 2
developmental disabilities - genetics (2) 2
developmental disabilities - pathology (2) 2
differentiation (2) 2
electroweak interaction (2) 2
epilepsy (2) 2
epilepsy - genetics (2) 2
face - abnormalities (2) 2
facies (2) 2
females (2) 2
gene dosage (2) 2
gene mutations (2) 2
genetic diseases, x-linked - genetics (2) 2
growth disorders - genetics (2) 2
hep (2) 2
identification (2) 2
instrumentation and detectors (2) 2
intellectual disabilities (2) 2
intellectual disability (2) 2
intellectual disability - pathology (2) 2
kinematics (2) 2
magnetic resonance imaging (2) 2
medicine (2) 2
medicine, research & experimental (2) 2
mental retardation, x-linked - genetics (2) 2
microcephaly (2) 2
mouse model (2) 2
nervous system malformations - genetics (2) 2
nervous system malformations - pathology (2) 2
particle physics (2) 2
phenotypes (2) 2
proteins (2) 2
proton-proton scattering (2) 2
quark gluon plasma (2) 2
resonance: production (2) 2
x‐linked intellectual disability (2) 2
z0: hadronic decay (2) 2
z0: leptonic decay (2) 2
more...
Language Language
Publication Date Publication Date
Click on a bar to filter by decade
Slide to change publication date range


European journal of human genetics : EJHG, ISSN 1476-5438, 2017, Volume 26, Issue 1, pp. 64 - 74
Journal Article
Journal of Medical Genetics, ISSN 0022-2593, 09/2017, Volume 54, Issue 9, pp. 613 - 623
Journal Article
American journal of human genetics, ISSN 0002-9297, 12/2015, Volume 97, Issue 6, pp. 790 - 800
Journal Article
European Journal of Medical Genetics, ISSN 1769-7212, 2016, Volume 59, Issue 10, pp. 522 - 525
Abstract Mutations in MECP2 (MIM #312750), located on Xq28 and encoding a methyl CpG binding protein, are classically associated with Rett syndrome in female... 
Medical Education | X-linked intellectual disability | PPM-X syndrome | MECP2 gene | Rett syndrome | Angelman-like phenotype | MENTAL-RETARDATION | RETT-SYNDROME | GENE | MOUSE MODEL | GENETICS & HEREDITY | Rett Syndrome - complications | Mental Retardation, X-Linked - complications | Microcephaly - genetics | Humans | Middle Aged | Genetic Diseases, X-Linked - complications | Mental Retardation, X-Linked - physiopathology | Intellectual Disability - complications | Male | Epilepsy - physiopathology | Methyl-CpG-Binding Protein 2 - genetics | Ocular Motility Disorders - genetics | Intellectual Disability - genetics | Mental Retardation, X-Linked - genetics | Adult | Epilepsy - genetics | Female | Genetic Diseases, X-Linked - genetics | Microcephaly - physiopathology | Ataxia - genetics | Genetic Diseases, X-Linked - physiopathology | Ataxia - physiopathology | Microcephaly - complications | Genes, X-Linked - genetics | Rett Syndrome - physiopathology | Epilepsy - complications | Intellectual Disability - physiopathology | Phenotype | Pedigree | Muscle Spasticity - complications | Aged | Ataxia - complications | Muscle Spasticity - physiopathology | Ocular Motility Disorders - complications | Ocular Motility Disorders - physiopathology | Rett Syndrome - genetics | Muscle Spasticity - genetics | Family | Genetic aspects | Mental illness | Language acquisition | Protein binding
Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 06/2020, Volume 182, Issue 6, pp. 1537 - 1539
Journal Article
Journal Article
Molecular Genetics and Metabolism, ISSN 1096-7192, 04/2018, Volume 123, Issue 4, pp. 463 - 471
Journal Article
Journal Article
American journal of medical genetics. Part A, ISSN 1552-4825, 11/2016, Volume 170, Issue 11, pp. 2927 - 2933
Journal Article
Orphanet journal of rare diseases, ISSN 1750-1172, 04/2013, Volume 8, Issue 1, pp. 63 - 63
Journal Article
by Erö, J and König, A and Rad, N and Strauss, J and Waltenberger, W and Wittmann, J and Wulz, C.-E and Chekhovsky, V and Moortgat, S and Tavernier, S and Van Mulders, P and De Lentdecker, G and Favart, L and Goldouzian, R and Seva, T and Cimmino, A and Gul, M and Salva, S and Tytgat, M and Brochet, S and Delcourt, M and Francois, B and Komm, M and Lemaitre, V and Musich, M and Wertz, S and Alves, F.L and Brito, L and Pol, M.E and Carvalho, W and Chinellato, J and Custódio, A and Nogima, H and Ruiz Vargas, J.C and Shopova, M and Litov, L and Bian, J.G and Chen, H.S and Romeo, F and Shaheen, S.M and Wang, C and Li, Q and Liu, S and Mao, Y and Avila, C and González Hernández, C.F and Ruiz Alvarez, J.D and Courbon, B and Sculac, T and Starodumov, A and Carrera Jarrin, E and Dewanjee, R.K and Eerola, P and Härkönen, J and Järvinen, T and Kinnunen, R and Tuominiemi, J and Gras, P and Machet, M and Negro, G and Rander, J and Abdulsalam, A and Antropov, I and Cadamuro, L and Jo, M and Regnard, S and Sauvan, J.B and Sirois, Y and Stahl Leiton, A.G and Andrea, J and Bloch, D and Chanon, N and Conte, E and Coubez, X and Goerlach, U and Tonon, N and Bernet, C and Chierici, R and Depasse, P and El Mamouni, H and Fay, J and Gascon, S and Laktineh, I.B and Lethuillier, M and Perries, S and Popov, A and Toriashvili, T and Bagaturia, I and Beranek, S and Albert, A and Endres, M and Hamer, M and Hoepfner, K and Meyer, A and Mukherjee, S and Thüer, S and Kress, T and Nehrkorn, A and Asawatangtrakuldee, C and Beernaert, K and ... and The CMS Collaboration and Fermi National Accelerator Lab. (FNAL), Batavia, IL (United States) and Lawrence Livermore National Lab. (LLNL), Livermore, CA (United States)
Physics Letters B, ISSN 0370-2693, 05/2018, Volume 780, Issue C, pp. 432 - 454
A search for long-lived particles was performed with data corresponding to an integrated luminosity of 2.6 fb−1 collected at a center-of-mass energy of 13 TeV... 
Long-lived particles | CMS | Physics | PHYSICS OF ELEMENTARY PARTICLES AND FIELDS
Journal Article
Journal Article
by Erö, J and König, A and Rad, N and Suarez Gonzalez, J and Janssen, X and D'Hondt, J and De Clercq, J and Deroover, K and Flouris, G and Moreels, L and Van Doninck, W and Brun, H and Clerbaux, B and Yonamine, R and Zhang, F and Cimmino, A and Cornelis, T and Tytgat, M and Bondu, O and De Visscher, S and Delaere, C and Vidal Marono, M and Aldá Júnior, W.L and Alves, G.A and Da Costa, E.M and Huertas Guativa, L.M and Malbouisson, H and Mora Herrera, C and Santoro, A and Sznajder, A and Tonelli Manganote, E.J and Vilela Pereira, A and Gregores, E.M and Padula, Sandra S and Hadjiiska, R and Iaydjiev, P and Rodozov, M and Jiang, C.H and Liao, H and Spiezia, A and Wang, Z and Zhang, S and Chen, G and Avila, C and Cabrera, A and Lelas, D and Antunovic, Z and Kovac, M and Brigljevic, V and Susa, T and Rykaczewski, H and Assran, Y and Mahrous, A and Kadastik, M and Eerola, P and Voutilainen, M and Lampén, T and Lehti, S and Besancon, M and Titov, M and Beaudette, F and Busson, P and Charlot, C and Ortona, G and Pigard, P and Zabi, A and Zghiche, A and Agram, J.-L and Chabert, E.C and Gelé, D and Le Bihan, A.-C and Contardo, D and Grenier, G and Ille, B and Mirabito, L and Perries, S and Vander Donckt, M and Schomakers, C and Schulz, J and Zhukov, V and Albert, A and Endres, M and Hamer, M and Heidemann, C and Hoepfner, K and Meyer, A and Mukherjee, S and Pook, T and Thüer, S and Kress, T and Nehrkorn, A and Asawatangtrakuldee, C and Beernaert, K and Behnke, O and Bermúdez Martínez, A and Bin Anuar, A.A and Borras, K and Botta, V and Diez Pardos, C and Harb, A and ... and The CMS Collaboration
Physics Letters B, ISSN 0370-2693, 07/2018, Volume 782, pp. 474 - 496
Journal Article