المؤلفون: Kenny, RPW, Millar, EB, Adesanya, A, Richmond, C, Beyer, F, Calderon, C, Rankin, J, Toledano, M, Feychting, M, Pearce, MS, Craig, D, Pearson, F

مصطلحات موضوعية: Science & Technology, Life Sciences & Biomedicine, Environmental Sciences, Environmental Sciences & Ecology, Radiofrequency exposure, Electromagnetic fields, Non-ionizing radiation, Fertility, Pregnancy outcomes, OCCUPATIONAL EXPOSURES, ELECTROMAGNETIC-FIELDS, RADIO, AGE, Adult, Female, Humans, Infant, Newborn, Male, Meta-Analysis as Topic, Observational Studies as Topic, Pregnancy, Premature Birth, Radio Waves, Systematic Reviews as Topic

العلاقة: Environment International; http://hdl.handle.net/10044/1/98311Test

الإتاحة: https://doi.org/10.1016Test/j.envint.2021.106968
http://hdl.handle.net/10044/1/98311Test

المؤلفون: Salpietro V, Dixon CL, Guo H, Bello OD, Vandrovcova J, Efthymiou S, Maroofian R, Heimer G, Burglen L, Valence S, Torti E, Hacke M, Rankin J, Tariq H, Colin E, Procaccio V, Striano P, Mankad K, Lieb A, Chen S, Pisani L, Bettencourt C, Männikkö R, Manole A, Brusco A, Grosso E, Ferrero GB, Armstrong-Moron J, Gueden S, Bar-Yosef O, Tzadok M, Monaghan KG, Santiago-Sim T, Person RE, Cho MT, Willaert R, Yoo Y, Chae JH, Quan Y, Wu H, Wang T, Bernier RA, Xia K, Blesson A, Jain M, Motazacker MM, Jaeger B, Schneider AL, Boysen K, Muir AM, Myers CT, Gavrilova RH, Gunderson L, Schultz-Rogers L, Klee EW, Dyment D, Osmond M, Parellada M, Llorente C, Gonzalez-Peñas J, Carracedo A, Van Haeringen A, Ruivenkamp C, Nava C, Heron D, Nardello R, Iacomino M, Minetti C, Skabar A, Fabretto A, SYNAPS Study Group, Raspall-Chaure M, Chez M, Tsai A, Fassi E, Shinawi M, Constantino JN, De Zorzi R, Fortuna S, Kok F, Keren B, Bonneau D, Choi M, Benzeev B, Zara F, Mefford HC, Scheffer IE, Clayton-Smith J, Macaya A, Rothman JE, Eichler EE, Kullmann DM, Houlden H, Hanna MG, Bugiardini E, Hostettler I, O'Callaghan B, Khan A, Cortese A, O'Connor E, Yau WY, Bourinaris T, Kaiyrzhanov R, Chelban V, Madej M, Diana MC, Vari MS, Pedemonte M, Bruno C, Balagura G, Scala M, Fiorillo C, Nobili L, Malintan NT, Zanetti MN, Krishnakumar SS, Lignani G, Jepson JEC, Broda P, Baldassari S, Rossi P, Fruscione F, Madia F, Traverso M, De-Marco P, Pérez-Dueñas B, Munell F, Kriouile Y, El-Khorassani M, Karashova B, Avdjieva D, Kathom H, Tincheva R, Van-Maldergem L, Nachbauer W, Boesch S, Gagliano A, Amadori E, Goraya JS, Sultan T, Kirmani S, Ibrahim S, Jan F, Mine J, Banu S, Veggiotti P, Zuccotti GV, Ferrari MD, Van Den Maagdenberg AMJ, Verrotti A, Marseglia GL, Savasta S, Soler MA, Scuderi C, Borgione E, Chimenz R, Gitto E, Dipasquale V, Sallemi A, Fusco M, Cuppari C, Cutrupi MC, Ruggieri M, Cama A, Capra V, Mencacci NE, Boles R, Gupta N, Kabra M, Papacostas S, Zamba-Papanicolaou E, Dardiotis E, Maqbool S, Rana N, Atawneh O, Lim SY, Shaikh F, Koutsis G, Breza M, Coviello DA, Dauvilliers YA, AlKhawaja I, AlKhawaja M, Al-Mutairi F, Stojkovic T, Ferrucci V, Zollo M, Alkuraya FS, Kinali M, Sherifa H, Benrhouma H, Turki IBY, Tazir M, Obeid M, Bakhtadze S, Saadi NW, Zaki MS, Triki CC, Benfenati F, Gustincich S, Kara M, Belcastro V, Specchio N, Capovilla G, Karimiani EG, Salih AM, Okubadejo NU, Ojo OO, Oshinaike OO, Oguntunde O, Wahab K, Bello AH, Abubakar S, Obiabo Y, Nwazor E, Ekenze O, Williams U, Iyagba A, Taiwo L, Komolafe M, Senkevich K, Shashkin C, Zharkynbekova N, Koneyev K, Manizha G, Isrofilov M, Guliyeva U, Salayev K, Khachatryan S, Rossi S, Silvestri G, Haridy N, Ramenghi LA, Xiromerisiou G, David E, Aguennouz M, Fidani L, Spanaki C, Tucci A.

المساهمون: Salpietro, V, Dixon, Cl, Guo, H, Bello, Od, Vandrovcova, J, Efthymiou, S, Maroofian, R, Heimer, G, Burglen, L, Valence, S, Torti, E, Hacke, M, Rankin, J, Tariq, H, Colin, E, Procaccio, V, Striano, P, Mankad, K, Lieb, A, Chen, S, Pisani, L, Bettencourt, C, Männikkö, R, Manole, A, Brusco, A, Grosso, E, Ferrero, Gb, Armstrong-Moron, J, Gueden, S, Bar-Yosef, O, Tzadok, M, Monaghan, Kg, Santiago-Sim, T, Person, Re, Cho, Mt, Willaert, R, Yoo, Y, Chae, Jh, Quan, Y, Wu, H, Wang, T, Bernier, Ra, Xia, K, Blesson, A, Jain, M, Motazacker, Mm, Jaeger, B, Schneider, Al, Boysen, K, Muir, Am, Myers, Ct, Gavrilova, Rh, Gunderson, L, Schultz-Rogers, L, Klee, Ew, Dyment, D, Osmond, M, Parellada, M, Llorente, C, Gonzalez-Peñas, J, Carracedo, A, Van Haeringen, A, Ruivenkamp, C, Nava, C, Heron, D, Nardello, R, Iacomino, M, Minetti, C, Skabar, A, Fabretto, A, SYNAPS Study, Group, Raspall-Chaure, M, Chez, M, Tsai, A, Fassi, E, Shinawi, M, Constantino, Jn, De Zorzi, R, Fortuna, S, Kok, F, Keren, B, Bonneau, D, Choi, M, Benzeev, B, Zara, F, Mefford, Hc, Scheffer, Ie, Clayton-Smith, J, Macaya, A, Rothman, Je, Eichler, Ee, Kullmann, Dm, Houlden, H, Hanna, Mg, Bugiardini, E, Hostettler, I, O'Callaghan, B, Khan, A, Cortese, A, O'Connor, E

مصطلحات موضوعية: Adolescent, Adult, Brain, Child, Preschool, Cohort Studie, Female, Heterozygote, Human, Infant, Intellectual Disability, Loss of Function Mutation, Magnetic Resonance Imaging, Male, Neurodevelopmental Disorder, Receptors, AMPA, Young Adult

وصف الملف: ELETTRONICO

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/31300657; info:eu-repo/semantics/altIdentifier/wos/WOS:000475295700001; volume:10; firstpage:1; lastpage:16; numberofpages:16; journal:NATURE COMMUNICATIONS; http://hdl.handle.net/11567/973820Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85068965744

الإتاحة: https://doi.org/10.1038/s41467-019-10910-wTest
http://hdl.handle.net/11567/973820Test

المؤلفون: Boyle, B., Addor, M.C., Arriola, L., Barisic, I., Bianchi, F., Csáky-Szunyogh, M., de Walle, HEK, Dias, C.M., Draper, E., Gatt, M., Garne, E., Haeusler, M., Källén, K., Latos-Bielenska, A., McDonnell, B., Mullaney, C., Nelen, V., Neville, A.J., O'Mahony, M., Queisser-Wahrendorf, A., Randrianaivo, H., Rankin, J., Rissmann, A., Ritvanen, A., Rounding, C., Tucker, D., Verellen-Dumoulin, C., Wellesley, D., Wreyford, B., Zymak-Zakutnia, N., Dolk, H.

المصدر: Archives of disease in childhood. Fetal and neonatal edition, vol. 103, no. 1, pp. F22-F28

مصطلحات موضوعية: Abortion, Induced/statistics & numerical data, Adult, Congenital Abnormalities/diagnosis, Congenital Abnormalities/epidemiology, Europe/epidemiology, Female, Fetal Death/prevention & control, Fetal Mortality, Gestational Age, Global Burden of Disease/methods, Global Burden of Disease/statistics & numerical data, Humans, Infant, Infant Death/prevention & control, Infant Mortality, Newborn, Male, Pregnancy, Pregnancy Outcome/epidemiology, Prenatal Diagnosis/methods, Prenatal Diagnosis/statistics & numerical data, Prevalence, Registries/statistics & numerical data, Stillbirth/epidemiology, Congenital anomaly, DALY, Global Burden of Disease, YLL, mortality

وصف الملف: application/pdf

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/28667189; info:eu-repo/semantics/altIdentifier/eissn/1468-2052; info:eu-repo/semantics/altIdentifier/urn/urn:nbn:ch:serval-BIB_E47F473324D27; https://serval.unil.ch/notice/serval:BIB_E47F473324D2Test; urn:issn:1359-2998; https://serval.unil.ch/resource/serval:BIB_E47F473324D2.P001/REF.pdfTest; http://nbn-resolving.org/urn/resolver.pl?urn=urn:nbn:ch:serval-BIB_E47F473324D27Test

الإتاحة: https://doi.org/10.1136/archdischild-2016-311845Test
https://serval.unil.ch/notice/serval:BIB_E47F473324D2Test
https://serval.unil.ch/resource/serval:BIB_E47F473324D2.P001/REF.pdfTest
http://nbn-resolving.org/urn/resolver.pl?urn=urn:nbn:ch:serval-BIB_E47F473324D27Test

المؤلفون: Morris, J.K., Springett, A.L., Greenlees, R., Loane, M., Addor, M.C., Arriola, L., Barisic, I., Bergman, JEH, Csaky-Szunyogh, M., Dias, C., Draper, E.S., Garne, E., Gatt, M., Khoshnood, B., Klungsoyr, K., Lynch, C., McDonnell, R., Nelen, V., Neville, A.J., O'Mahony, M., Pierini, A., Queisser-Luft, A., Randrianaivo, H., Rankin, J., Rissmann, A., Kurinczuk, J., Tucker, D., Verellen-Dumoulin, C., Wellesley, D., Dolk, H.

المصدر: PloS one, vol. 13, no. 4, pp. e0194986

مصطلحات موضوعية: Congenital Abnormalities/diagnosis, Congenital Abnormalities/epidemiology, Congenital Abnormalities/etiology, Congenital Abnormalities/history, Europe/epidemiology, Female, History, Humans, Male, Population Surveillance, Pregnancy, Prevalence, Registries

الوقت: 20th Century, 21st Century

وصف الملف: application/pdf

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/29621304; info:eu-repo/semantics/altIdentifier/eissn/1932-6203; info:eu-repo/semantics/altIdentifier/urn/urn:nbn:ch:serval-BIB_CA5D91F2E3309; https://serval.unil.ch/notice/serval:BIB_CA5D91F2E330Test; urn:issn:1932-6203; https://serval.unil.ch/resource/serval:BIB_CA5D91F2E330.P001/REF.pdfTest; http://nbn-resolving.org/urn/resolver.pl?urn=urn:nbn:ch:serval-BIB_CA5D91F2E3309Test

الإتاحة: https://doi.org/10.1371/journal.pone.0194986Test
https://serval.unil.ch/notice/serval:BIB_CA5D91F2E330Test
https://serval.unil.ch/resource/serval:BIB_CA5D91F2E330.P001/REF.pdfTest
http://nbn-resolving.org/urn/resolver.pl?urn=urn:nbn:ch:serval-BIB_CA5D91F2E3309Test

المؤلفون: Anastasius, M, Lau, JK, Hyun, K, D'Souza, M, Patel, A, Rankin, J, Walters, D, Juergens, C, Aliprandi-Costa, B, Yan, AT, Goodman, SG, Chew, D, Brieger, D

المصدر: urn:ISSN:0167-5273 ; urn:ISSN:1874-1754 ; International Journal of Cardiology, 240, 30-36

مصطلحات موضوعية: Clinical Trials and Supportive Activities, Heart Disease, Cardiovascular, Atherosclerosis, Clinical Research, Heart Disease - Coronary Heart Disease, Acute Coronary Syndrome, Aged, 80 and over, Australia, Drug Therapy, Combination, Drug Utilization, Female, Humans, Male, Middle Aged, Platelet Aggregation Inhibitors, Prospective Studies, Registries, Dual antiplatelet therapy, anzsrc-for: 1102 Cardiorespiratory Medicine and Haematology, anzsrc-for: 1117 Public Health and Health Services

وصف الملف: application/pdf

العلاقة: http://hdl.handle.net/1959.4/unsworks_73824Test; https://unsworks.unsw.edu.au/bitstreams/fb7d3488-4956-4607-abd8-6cab85e8a515/downloadTest; https://doi.org/10.1016Test/j.ijcard.2017.04.077

الإتاحة: https://doi.org/10.1016Test/j.ijcard.2017.04.077
http://hdl.handle.net/1959.4/unsworks_73824Test
https://unsworks.unsw.edu.au/bitstreams/fb7d3488-4956-4607-abd8-6cab85e8a515/downloadTest

المؤلفون: Pagnamenta A. T., Kaiyrzhanov R., Zou Y., Da'As S. I., Maroofian R., Donkervoort S., Dominik N., Lauffer M., Ferla M. P., Orioli A., Giess A., Tucci A., Beetz C., Sedghi M., Ansari B., Barresi R., Basiri K., Cortese A., Elgar G., Fernandez-Garcia M. A., Yip J., Foley A. R., Gutowski N., Jungbluth H., Lassche S., Lavin T., Marcelis C., Marks P., Marini-Bettolo C., Medne L., Moslemi A. -R., Sarkozy A., Reilly M. M., Muntoni F., Millan F., Muraresku C. C., Need A. C., Nemeth A. H., Neuhaus S. B., Norwood F., O'Donnell M., O'Driscoll M., Rankin J., Yum S. W., Zolkipli-Cunningham Z., Brusius I., Wunderlich G., Karakaya M., Wirth B., Fakhro K. A., Tajsharghi H., Bonnemann C. G., Taylor J. C., Houlden H.

المساهمون: Pagnamenta, A. T., Kaiyrzhanov, R., Zou, Y., Da'As, S. I., Maroofian, R., Donkervoort, S., Dominik, N., Lauffer, M., Ferla, M. P., Orioli, A., Giess, A., Tucci, A., Beetz, C., Sedghi, M., Ansari, B., Barresi, R., Basiri, K., Cortese, A., Elgar, G., Fernandez-Garcia, M. A., Yip, J., Foley, A. R., Gutowski, N., Jungbluth, H., Lassche, S., Lavin, T., Marcelis, C., Marks, P., Marini-Bettolo, C., Medne, L., Moslemi, A. -R., Sarkozy, A., Reilly, M. M., Muntoni, F., Millan, F., Muraresku, C. C., Need, A. C., Nemeth, A. H., Neuhaus, S. B., Norwood, F., O'Donnell, M., O'Driscoll, M., Rankin, J., Yum, S. W., Zolkipli-Cunningham, Z., Brusius, I., Wunderlich, G., Karakaya, M., Wirth, B., Fakhro, K. A., Tajsharghi, H., Bonnemann, C. G., Taylor, J. C., Houlden, H.

مصطلحات موضوعية: EMG, genetics: neuropathy, hereditary motor and sensory neuropathie, nerve conduction studie, whole-genome sequencing, Adult, Aged, Animal, Behavior, Child, Extracellular Matrix Protein, Female, Hereditary Sensory and Motor Neuropathy, Human, Male, Middle Aged, Muscle, Skeletal, Mutation, Pedigree, Young Adult, Zebrafish

وصف الملف: STAMPA

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/33559681; info:eu-repo/semantics/altIdentifier/wos/WOS:000880372000033; volume:144; issue:2; firstpage:584; lastpage:600; numberofpages:17; journal:BRAIN; http://hdl.handle.net/11571/1450144Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85102905606; https://academic.oup.com/brain/article/144/2/584/6103826Test

الإتاحة: https://doi.org/10.1093/brain/awaa420Test
http://hdl.handle.net/11571/1450144Test
https://academic.oup.com/brain/article/144/2/584/6103826Test

المؤلفون: Morris, J.K., Rankin, J., Garne, E., Loane, M., Greenlees, R., Addor, M.C., Arriola, L., Barisic, I., Bergman, J.E., Csaky-Szunyogh, M., Dias, C., Draper, E.S., Gatt, M., Khoshnood, B., Klungsoyr, K., Kurinczuk, J.J., Lynch, C., McDonnell, R., Nelen, V., Neville, A.J., O'Mahony, M.T., Pierini, A., Randrianaivo, H., Rissmann, A., Tucker, D., Verellen-Dumoulin, C., de Walle, H.E., Wellesley, D., Wiesel, A., Dolk, H.

المصدر: BMJ (Clinical research ed.), vol. 354, pp. i4721

مصطلحات موضوعية: Europe/epidemiology, Female, Fetal Death, Humans, Male, Microcephaly/diagnosis, Microcephaly/epidemiology, Population Surveillance, Pregnancy, Prenatal Diagnosis, Prevalence, Registries, Retrospective Studies, Surveys and Questionnaires

وصف الملف: application/pdf

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/27623840; info:eu-repo/semantics/altIdentifier/eissn/1756-1833; info:eu-repo/semantics/altIdentifier/urn/urn:nbn:ch:serval-BIB_7D152A6C8C072; https://serval.unil.ch/notice/serval:BIB_7D152A6C8C07Test; urn:issn:0959-535X; https://serval.unil.ch/resource/serval:BIB_7D152A6C8C07.P001/REF.pdfTest; http://nbn-resolving.org/urn/resolver.pl?urn=urn:nbn:ch:serval-BIB_7D152A6C8C072Test

الإتاحة: https://serval.unil.ch/notice/serval:BIB_7D152A6C8C07Test
https://serval.unil.ch/resource/serval:BIB_7D152A6C8C07.P001/REF.pdfTest
http://nbn-resolving.org/urn/resolver.pl?urn=urn:nbn:ch:serval-BIB_7D152A6C8C072Test

المؤلفون: O'Donnell-Luria A. H., Pais L. S., Faundes V., Wood J. C., Sveden A., Luria V., Abou Jamra R., Accogli A., Amburgey K., Anderlid B. M., Azzarello-Burri S., Basinger A. A., Bianchini C., Bird L. M., Buchert R., Carre W., Ceulemans S., Charles P., Cox H., Culliton L., Curro A., McRae J. F., Clayton S., Fitzgerald T. W., Kaplanis J., Prigmore E., Rajan D., Sifrim A., Aitken S., Akawi N., Alvi M., Ambridge K., Barrett D. M., Bayzetinova T., Jones P., Jones W. D., King D., Krishnappa N., Mason L. E., Singh T., Tivey A. R., Ahmed M., Anjum U., Archer H., Armstrong R., Awada J., Balasubramanian M., Banka S., Baralle D., Barnicoat A., Batstone P., Baty D., Bennett C., Berg J., Bernhard B., Bevan A. P., Bitner-Glindzicz M., Blair E., Blyth M., Bohanna D., Bourdon L., Bourn D., Bradley L., Brady A., Brent S., Brewer C., Brunstrom K., Bunyan D. J., Burn J., Canham N., Castle B., Chandler K., Chatzimichali E., Cilliers D., Clarke A., Clasper S., Clayton-Smith J., Clowes V., Coates A., Cole T., Colgiu I., Collins A., Collinson M. N., Connell F., Cooper N., Cresswell L., Cross G., Crow Y., D'Alessandro M., Dabir T., Davidson R., Davies S., de Vries D., Dean J., Deshpande C., Devlin G., Dixit A., Dobbie A., Donaldson A., Donnai D., Donnelly D., Donnelly C., Douglas A., Douzgou S., Duncan A., Eason J., Ellard S., Ellis I., Elmslie F., Evans K., Everest S., Fendick T., Fisher R., Flinter F., Foulds N., Fry A., Fryer A., Gardiner C., Gaunt L., Ghali N., Gibbons R., Gill H., Goodship J., Goudie D., Gray E., Green A., Greene P., Greenhalgh L., Gribble S., Harrison R., Harrison L., Harrison V., Hawkins R., He L., Hellens S., Henderson A., Hewitt S., Hildyard L., Hobson E., Holden S., Holder M., Holder S., Hollingsworth G., Homfray T., Humphreys M., Hurst J., Hutton B., Ingram S., Irving M., Islam L., Jackson A., Jarvis J., Jenkins L., Johnson D., Jones E., Josifova D., Joss S., Kaemba B., Kazembe S., Kelsell R., Kerr B., Kingston H., Kini U., Kinning E., Kirby G., Kirk C., Kivuva E., Kraus A., Kumar D., Kumar V. K. A., Lachlan K., Lam W., Lampe A., Langman C., Lees M., Lim D., Longman C., Lowther G., Lynch S. A., Magee A., Maher E., Male A., Mansour S., Marks K., Martin K., Maye U., McCann E., McConnell V., McEntagart M., McGowan R., McKay K., McKee S., McMullan D. J., McNerlan S., McWilliam C., Mehta S., Metcalfe K., Middleton A., Miedzybrodzka Z., Miles E., Mohammed S., Montgomery T., Moore D., Morgan S., Morton J., Mugalaasi H., Murday V., Murphy H., Naik S., Nemeth A., Nevitt L., Newbury-Ecob R., Norman A., O'Shea R., Ogilvie C., Ong K. -R., Park S. -M., Parker M. J., Patel C., Paterson J., Payne S., Perrett D., Phipps J., Pilz D. T., Pollard M., Pottinger C., Poulton J., Pratt N., Prescott K., Price S., Pridham A., Procter A., Purnell H., Quarrell O., Ragge N., Rahbari R., Randall J., Rankin J., Raymond L., Rice D., Robert L., Roberts E., Roberts J., Roberts P., Roberts G., Ross A., Rosser E., Saggar A., Samant S., Sampson J., Sandford R., Sarkar A., Schweiger S., Scott R., Scurr I., Selby A., Seller A., Sequeira C., Shannon N., Sharif S., Shaw-Smith C., Shearing E., Shears D., Sheridan E., Simonic I., Singzon R., Skitt Z., Smith A., Smith K., Smithson S., Sneddon L., Splitt M., Squires M., Stewart F., Stewart H., Straub V., Suri M., Sutton V., Swaminathan G. J., Sweeney E., Tatton-Brown K., Taylor C., Taylor R., Tein M., Temple I. K., Thomson J., Tischkowitz M., Tomkins S., Torokwa A., Treacy B., Turner C., Turnpenny P., Tysoe C., Vandersteen A., Varghese V., Vasudevan P., Vijayarangakannan P., Vogt J., Wakeling E., Wallwark S., Waters J., Weber A., Wellesley D., Whiteford M., Widaa S., Wilcox S., Wilkinson E., Williams D., Williams N., Wilson L., Woods G., Wragg C., Wright M., Yates L., Yau M., Nellaker C., Parker M., Firth H. V., Wright C. F., FitzPatrick D. R., Barrett J. C., Hurles M. E., Demurger F., Dowling J. J., Duban-Bedu B., Dubourg C., Eiset S. E., Escobar L. F., Ferrarini A., Haack T. B., Hashim M., Heide S., Helbig K. L., Helbig I., Heredia R., Heron D., Isidor B., Jonasson A. R., Joset P., Keren B., Kok F., Kroes H. Y., Lavillaureix A., Lu X., Maas S. M., Maegawa G. H. B., Marcelis C. L. M., Mark P. R., Masruha M. R., McLaughlin H. M., McWalter K., Melchinger E. U., Mercimek-Andrews S., Nava C., Pendziwiat M., Person R., Ramelli G. P., Ramos L. L. P., Rauch A., Reavey C., Renieri A., Riess A., Sanchez-Valle A., Sattar S., Saunders C., Schwarz N., Smol T., Srour M., Steindl K., Syrbe S., Taylor J. C., Telegrafi A., Thiffault I., Trauner D. A., van der Linden H., van Koningsbruggen S., Villard L., Vogel I., Weber Y. G., Wentzensen I. M., Widjaja E., Zak J., Baxter S., Rodan L. H.

المساهمون: O'Donnell-Luria, A. H., Pais, L. S., Faundes, V., Wood, J. C., Sveden, A., Luria, V., Abou Jamra, R., Accogli, A., Amburgey, K., Anderlid, B. M., Azzarello-Burri, S., Basinger, A. A., Bianchini, C., Bird, L. M., Buchert, R., Carre, W., Ceulemans, S., Charles, P., Cox, H., Culliton, L., Curro, A., Mcrae, J. F., Clayton, S., Fitzgerald, T. W., Kaplanis, J., Prigmore, E., Rajan, D., Sifrim, A., Aitken, S., Akawi, N., Alvi, M., Ambridge, K., Barrett, D. M., Bayzetinova, T., Jones, P., Jones, W. D., King, D., Krishnappa, N., Mason, L. E., Singh, T., Tivey, A. R., Ahmed, M., Anjum, U., Archer, H., Armstrong, R., Awada, J., Balasubramanian, M., Banka, S., Baralle, D., Barnicoat, A., Batstone, P., Baty, D., Bennett, C., Berg, J., Bernhard, B., Bevan, A. P., Bitner-Glindzicz, M., Blair, E., Blyth, M., Bohanna, D., Bourdon, L., Bourn, D., Bradley, L., Brady, A., Brent, S., Brewer, C., Brunstrom, K., Bunyan, D. J., Burn, J., Canham, N., Castle, B., Chandler, K., Chatzimichali, E., Cilliers, D., Clarke, A., Clasper, S., Clayton-Smith, J., Clowes, V., Coates, A., Cole, T., Colgiu, I., Collins, A., Collinson, M. N., Connell, F., Cooper, N., Cresswell, L., Cross, G., Crow, Y., D'Alessandro, M., Dabir, T., Davidson, R., Davies, S., de Vries, D., Dean, J., Deshpande, C., Devlin, G., Dixit, A., Dobbie, A., Donaldson, A., Donnai, D.

مصطلحات موضوعية: autism, epilepsy, epileptic encephalopathy, global developmental delay, H3K4 methylation, intellectual disability, KMT2E, neurodevelopmental disorder, Adolescent, Adult, Child, Preschool, DNA-Binding Protein, Female, Haploinsufficiency, Human, Infant, Male, Pedigree, Phenotype, Young Adult, Genetic Variation, Heterozygote

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/31079897; info:eu-repo/semantics/altIdentifier/wos/WOS:000470240000015; volume:104; issue:6; firstpage:1210; lastpage:1222; numberofpages:13; journal:AMERICAN JOURNAL OF HUMAN GENETICS; http://hdl.handle.net/11365/1126831Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85066447016

الإتاحة: https://doi.org/10.1016Test/j.ajhg.2019.03.021
http://hdl.handle.net/11365/1126831Test

المؤلفون: Santoro, M., Coi, A., Barišić, I., Garne, E., Addor, M.C., Bergman, JEH, Bianchi, F., Boban, L., Braz, P., Cavero-Carbonell, C., Gatt, M., Haeusler, M., Kinsner-Ovaskainen, A., Klungsøyr, K., Kurinczuk, J.J., Lelong, N., Luyt, K., Materna-Kiryluk, A., Mokoroa, O., Mullaney, C., Nelen, V., Neville, A.J., O'Mahony, M.T., Perthus, I., Randrianaivo, H., Rankin, J., Rissmann, A., Rouget, F., Schaub, B., Tucker, D., Wellesley, D., Yevtushok, L., Pierini, A.

المصدر: Neuroepidemiology, vol. 53, no. 3-4, pp. 169-179

مصطلحات موضوعية: Adult, Dandy-Walker Syndrome/epidemiology, Europe/epidemiology, Female, Humans, Male, Pregnancy, Pregnancy Complications/epidemiology, Pregnancy Outcome, Prenatal Diagnosis, Registries, Dandy-Walker malformation, Dandy-Walker variant, EUROCAT, Epidemiology, Prevalence

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/31302658; info:eu-repo/semantics/altIdentifier/eissn/1423-0208; https://serval.unil.ch/notice/serval:BIB_1A4571D1DFBBTest; urn:issn:0251-5350

الإتاحة: https://doi.org/10.1159/000501238Test
https://serval.unil.ch/notice/serval:BIB_1A4571D1DFBBTest

المؤلفون: Coi, A., Santoro, M., Garne, E., Pierini, A., Addor, M.C., Alessandri, J.L., Bergman, JEH, Bianchi, F., Boban, L., Braz, P., Cavero-Carbonell, C., Gatt, M., Haeusler, M., Klungsøyr, K., Kurinczuk, J.J., Lanzoni, M., Lelong, N., Luyt, K., Mokoroa, O., Mullaney, C., Nelen, V., Neville, A.J., O'Mahony, M.T., Perthus, I., Rankin, J., Rissmann, A., Rouget, F., Schaub, B., Tucker, D., Wellesley, D., Wisniewska, K., Zymak-Zakutnia, N., Barišić, I.

المصدر: American journal of medical genetics. Part A, vol. 179, no. 9, pp. 1791-1798

مصطلحات موضوعية: Achondroplasia/diagnosis, Achondroplasia/epidemiology, Achondroplasia/genetics, Achondroplasia/pathology, Adult, Europe/epidemiology, Female, Fetal Death, Humans, Infant, Newborn, Male, Maternal Age, Population/genetics, Pregnancy, Pregnancy Outcome, Prenatal Diagnosis, Rare Diseases/epidemiology, Rare Diseases/genetics, Rare Diseases/pathology, EUROCAT, achondroplasia, epidemiology, paternal age, prevalence, skeletal dysplasia

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/31294928; info:eu-repo/semantics/altIdentifier/eissn/1552-4833; https://serval.unil.ch/notice/serval:BIB_54824B35A3E3Test; urn:issn:1552-4825

الإتاحة: https://doi.org/10.1002/ajmg.a.61289Test
https://serval.unil.ch/notice/serval:BIB_54824B35A3E3Test