دوريات أكاديمية 183 مواد مؤتمر 18 موارد غير مطبوعة 10 مجلات 3

[sdv]life sciences [q-bio] 33 [sdv.can]life sciences [q-bio]/cancer 29 [sdv.gen.gh]life sciences [q-bio]/genetics/human genetics 27 intellectual disability 26 [sdv.mhep.geo]life sciences [q-bio]/human health and pathology/gynecology and obstetrics 21 molecular biology 14 [sdv.gen]life sciences [q-bio]/genetics 13 [sdv.mhep]life sciences [q-bio]/human health and pathology 12 [sdv.bbm]life sciences [q-bio]/biochemistry 11 علم الوراثة 11 mesh: humans 11 mesh: mutation 11 [sdv.ib.ima]life sciences [q-bio]/bioengineering/imaging 8 ampar 8 de novo mutations 8 nmdar 8 synaptic plasticity 8 ubiquitin 8 [chim]chemical sciences 7 [sdv.ib.mn]life sciences [q-bio]/bioengineering/nuclear medicine 7 exome sequencing 7 genetics (clinical) 7 kcc2 7 mesh: brain 7 mesh: catalytic domain 7 mesh: male 7 mesh: mental retardation 7 mesh: phosphorylation 7 microcephaly 7 missense 7 neurodevelopmental disease 7 x-linked 7 [chim.radio]chemical sciences/radiochemistry 6 hp1 6 البشر 6 kinetochores 6 male 6 mesh: loss of function mutation 6 microtubules 6 molecular medicine 6 x-linked intellectual disability 6 [info.info-im]computer science [cs]/medical imaging 5 drug discovery 5 mesh: protein serine-threonine kinases 5 mesh: symporters 5 mri 5 mutation 5 therapy 5 [sdv.imm.imm]life sciences [q-bio]/immunology/immunotherapy 4 [sdv.mhep.rsoa]life sciences [q-bio]/human health and pathology/rhumatology and musculoskeletal system 4

hal ccsd 128 وايلي 69 elsevier (cell press) 17 elsevier bv 15 إلزيفير 9  مجموعة ناتشر للنشر 8 cell press 5 ivyspring international publisher 5 oxford university press (oup) 5 الجمعية الملكية للكيمياء 5 springer science and business media llc 5  وايلي-بلاكويل 5 archeologie medievale 4 cnrs editions 4  الجمعية الكيميائية الأمريكية 3 frontiers 3 wiley-vch verlag 3 access intelligence llc 2 american chemical society (acs) 2 إيه سكولارشيب، جامعة كاليفورنيا 2 royal society of chemistry (rsc) 2 springeropen 2 american college of medical genetics and genomics 1 إلزيفير 1 frontiers media sa 1 georg thieme verlag kg 1 s. karger ag 1

الإنجليزية 191 الفرنسية 13 unknown 4

issn: 0197-3851 36 issn: 0002-9297 17 issn: 1098-3600 7 cheminform 6 issn: 1059-7794 6 issn: 1359-7345 5 issn: 0740-3194 4 issn: 0964-6906 4 issn: 1525-0016 4 issn: 1569-1993 4 issn: 0022-3263 3 issn: 1434-193x 3 $2 2 chemical engineering 2 chemmedchem 2 issn: 0010-8545 2 issn: 0968-0896 2 universidad de la sabana ; intellectum repositorio universidad de la sabana 2 american journal of human genetics, vol 100, iss 2 1 american journal of human genetics, vol 101, iss 5 1 cheminform ; volume 34, issue 20 ; issn 0931-7597 1522-2667 1 cheminform ; volume 34, issue 49 ; issn 0931-7597 1522-2667 1 cheminform ; volume 35, issue 40 ; issn 0931-7597 1522-2667 1 ejnmmi research ; volume 10, issue 1 ; issn 2191-219x 1 frontiers in oncology ; volume 11 ; issn 2234-943x 1 issn: 1018-4813 1 journal of pediatric gastroenterology and nutrition ; issn: 0277-2116 1 التغذية 1 pediatric dermatology ; volume 32, issue 3 ; issn 0736-8046 1525-1470 1

BASE 197 فهرس مكمل 6 فهرس تكميلي 3 Academic Search Index 1 Business Source Index 1 USPTO Patent Grants 1 USPTO Patent Applications 1 Networked Digital Library of Theses & Dissertations 1

فرنسا 16 clermont-ferrand 7 paris 5 lyon 4 ألمانيا 2 gottingen 2 352 - 363 1

Archive Ouverte Hal (Hyper Article En Ligne, Ccsd - Centre Pour La Communication Scientifique Directe) 29 Wiley Online Library (Open Access Articles Via Crossref) 21 Sciencedirect (Elsevier - Open Access Articles Via Crossref) 15 Hal Clermont Auvergne (Universite Blaise Pascal Clermont-Ferrand / Universite D'auvergne) 12 Institut National De La Recherche Agronomique: Prodinra 8 Inserm: Hal (Institut National De La Sante Et De La Recherche Medicale) 7 Universite De Nantes: Hal-Univ-Nantes 7 Universite De Rennes 1: Publications Scientifiques (Hal) 7 Normandie Universite: Hal 3 Universite De Bretagne Occidentale: Hal 3 Universite De Lyon: Hal 3 Universite De Montpellier: Hal 3 University Of Southampton: E-Prints Soton 3 Acik Erisim@Buu (Bursa Uludag Universitesi) 2 Hal Lyon 1 (University Claude Bernard Lyon 1) 2 Hal-Cea (Commissariat A L'energie Atomique Et Aux Energies Alternatives) 2 Hal-In2p3 (Institut National De Physique Nucleaire Et De Physique Des Particules) 2 Hospices Civils De Lyon (Hcl): Hal 2 Openedition 2 Repositorio Universidad De La Sabana 2 Universite De Lorraine: Hal 2 Universite Francois-Rabelais De Tours: Hal 2 Universite Jean Monnet - Saint-Etienne: Hal 2 University Of California: Escholarship 2 Cardiff University: Orca (Online Research @ Cardiff) 1 Di-Fusion : Depot Institutionnel De L'universite Libre De Bruxelles (Ulb) 1 Ephe (Ecole Pratique Des Hautes Etudes, Paris): Hal 1 Frontiers (Publisher - Via Crossref) 1 Ghent University Academic Bibliography 1 Lilloa (Hal Lille Open Archive, Universite De Lille) 1 Portail Hal De L'universite Lumiere Lyon 2 1 The University Of Queensland: Uq Espace 1 Universite De Bourgogne (Ub): Hal 1 Universite De Poitiers: Publications De Nos Chercheurs.Ses (Hal) 1 Universite De Reims Champagne-Ardenne: Archives Ouvertes (Hal) 1 Universite De Versailles Saint-Quentin-En-Yvelines: Hal-Uvsq 1 Universite Des Antilles (Uag): Hal 1 Universite Grenoble Alpes: Hal 1 Universite Jean Moulin - Lyon 3: Publications Scientifiques (Hal) 1 Universite Toulouse Iii - Paul Sabatier: Hal-Ups 1