المؤلفون: Lardelli P. F., Jermini L. M. M., Milani G. P., Peeters G. G. A. M., Ramelli G. P., Zgraggen L., Terrani I., Bianchetti M. G., Vanoni F., Fare P. B., Lava S. A. G.

المساهمون: P.F. Lardelli, L.M.M. Jermini, G.P. Milani, G.G.A.M. Peeter, G.P. Ramelli, L. Zgraggen, I. Terrani, M.G. Bianchetti, F. Vanoni, P.B. Fare, S.A.G. Lava

مصطلحات موضوعية: Settore MED/38 - Pediatria Generale e Specialistica

Relation: info:eu-repo/semantics/altIdentifier/pmid/32479658; info:eu-repo/semantics/altIdentifier/wos/WOS:000544235500001; volume:74; issue:10; firstpage:1; lastpage:6; numberofpages:6; journal:INTERNATIONAL JOURNAL OF CLINICAL PRACTICE; http://hdl.handle.net/2434/805500; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85087215866

الاتاحة: http://hdl.handle.net/2434/805500
https://doi.org/10.1111/ijcp.13567

المؤلفون: Ramelli V., Rinoldi P. O., Bianchetti M. G., Lava S. A. G., Ramelli G. P., Milani G. P.

المساهمون: V. Ramelli, P.O. Rinoldi, M.G. Bianchetti, S.A.G. Lava, G.P. Ramelli, G.P. Milani

مصطلحات موضوعية: Settore MED/38 - Pediatria Generale e Specialistica

Relation: info:eu-repo/semantics/altIdentifier/pmid/31630232; info:eu-repo/semantics/altIdentifier/wos/WOS:000491524900001; volume:178; issue:12; firstpage:1913; lastpage:1914; numberofpages:2; journal:EUROPEAN JOURNAL OF PEDIATRICS; http://hdl.handle.net/2434/805561; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85074359768

الاتاحة: http://hdl.handle.net/2434/805561
https://doi.org/10.1007/s00431-019-03472-y

المؤلفون: Adams, Mark, Berger, Thomas M, Borradori-Tolsa, Cristina, Bickle-Graz, Myriam, Grunt, Sebastian, Gerull, Roland, Bassler, Dirk, Natalucci, Giancarlo, For the Swiss Neonatal Network & Follow-Up Group, Anderegg, Meyer C, Mori, A Capone, Kaeppeli, D, Schulzke, S, Weber, P, Ramelli, G P, Simonetti, B Goeggel, Nelle, M, Wagner, B, Steinlin, M, Grunt, S, Gebauer, M, Hassink, R, Bär, W, Keller, E, Killer, Ch, Fuhrer, K, Pfister, R E, Hüppi, P S, Borradori-Tolsa, C, Tolsa, J-F, Roth-kleiner, M, Bickle-graz, M, Berger, T M, Schmitt-Mechelke, T, Bauder, F, Pezzoli, V, Erkert, B, Mueller, A, Ecoffey, M, Malzacher, A, Micallef, J P, Lang-Dullenkopf, A, Hegi, L, Rhein, M Von, Bassler, D, Arlettaz, R, Bernet, V, Latal, B, Natalucci, G, Moenkhoff, M

مصطلحات موضوعية: Research

وصف الملف: text/html

Relation: http://bmjopen.bmj.com/cgi/content/short/9/3/e024560; http://dx.doi.org/10.1136/bmjopen-2018-024560

الاتاحة: http://bmjopen.bmj.com/cgi/content/short/9/3/e024560
https://doi.org/10.1136/bmjopen-2018-024560

المؤلفون: Capoferri G., Milani G. P., Ramelli G. P., Ferrarini A., Bianchetti M. G., Lava S. A. G.

المساهمون: G. Capoferri, G.P. Milani, G.P. Ramelli, A. Ferrarini, M.G. Bianchetti, S.A.G. Lava

مصطلحات موضوعية: Acute benign myalgia cruri, Acute toe-walking, Benign childhood myositi, Bottom shuffling, Frankenstein walk, Review, Settore MED/38 - Pediatria Generale e Specialistica

Relation: info:eu-repo/semantics/altIdentifier/pmid/29653699; info:eu-repo/semantics/altIdentifier/wos/WOS:000435056300008; volume:28; issue:5; firstpage:443; lastpage:449; numberofpages:7; journal:NEUROMUSCULAR DISORDERS; http://hdl.handle.net/2434/805543; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85045120128

الاتاحة: http://hdl.handle.net/2434/805543
https://doi.org/10.1016/j.nmd.2018.02.005

المؤلفون: Ramelli, V, Ramelli, G P, Lava, S A G, Siegenthaler, G M, Bianchetti, M G, Ceschi, A

المصدر: Ramelli, V; Ramelli, G P; Lava, S A G; Siegenthaler, G M; Bianchetti, M G; Ceschi, A (2014). Vitamin D status among children and adolescents on anticonvulsant drugs in Southern Switzerland. Swiss Medical Weekly, 144(144):w13996.

مصطلحات موضوعية: Clinic for Clinical Pharmacology and Toxicology, 610 Medicine & health

وصف الملف: application/pdf

Relation: https://www.zora.uzh.ch/id/eprint/101397/1/Vit%20D-anticonvulsants_SMW_2014.pdf; info:pmid/25118788; urn:issn:1424-3997

الاتاحة: https://www.zora.uzh.ch/id/eprint/101397/
https://doi.org/10.4414/smw.2014.13996

المؤلفون: Garzoni, L., Vanoni, F., Rizzi, M., Simonetti, G. D., Simonetti, B. G., Ramelli, G. P., Bianchetti, M. G.

المصدر: Rheumatology ; volume 48, issue 12, page 1524-1529 ; ISSN 1462-0324 1462-0332

الاتاحة: http://dx.doi.org/10.1093/rheumatology/kep282
http://academic.oup.com/rheumatology/article-pdf/48/12/1524/5051357/kep282.pdf

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

Relation: 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/11365/1126831; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85066447016

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

المؤلفون: D'Angelo, D., Lebon, S., Chen, Q., Martin-Brevet, S., Snyder, L. G., Hippolyte, L., Hanson, E., Maillard, A. M., Faucett, W. A., Mace, A., Pain, A., Bernier, R., Chawner, S. J. R. A., David, A., Andrieux, J., Aylward, E., Baujat, G., Caldeira, I., Conus, P., Ferrari, C., Forzano, F., Gerard, M., Goin-Kochel, R. P., Grant, E., Hunter, J. V., Isidor, B., Jacquette, A., Jonch, A. E., Keren, B., Lacombe, D., Le Caignec, C., Martin, C. L., Mannik, K., Metspalu, A., Mignot, C., Mukherjee, P., Owen, M. J., Passeggeri, M., Rooryck-Thambo, C., Rosenfeld, J. A., Spence, S. J., Steinman, K. J., Tjernagel, J., Van Haelst, M., Shen, Y., Draganski, B., Sherr, E. H., Ledbetter, D. H., van den Bree, M. B. M., Beckmann, J. S., Spiro, J. E., Reymond, A., Jacquemont, S., Chung, W. K., Knoers, N. V. A. M., Martinet, D., Belfiore, M., Cuvellier, J. -C., Devries, B., Delrue, M. -A., Doco-Fenzy, M., Lebel, R., Leheup, B., Lewis, S., Mencarelli, M. A., Minet, J. -C., Vincent-Delorme, C., Moerman, A., Mucciolo, M., Ounap, K., Rajcan-Separovic, E., Renieri, A., Sanlaville, D., Faas, B. H., Koolen, D. A., Vulto-Van Silfhout, A., de Leeuw, N., Rosanfeld, J. A., Filges, I., Achatz, E., Roetzer, K. M., Bonneau, D., Guichet, A., Lazaro, L., Plessis, G., Kroisel, P. M., Reis, A., Jonveaux, P., Chantot-Bastaraud, S., Rauch, A., Demeer, B., Nordgren, A., Labalme, A., Ferrarini, A., Ramelli, G. P., Guilmatre, A., Joly-Helas, G., Haize, S., Layet, V., Le Gallic, S., de Freminville, B., Touraine, R., Van Binsbergen, E., Mathieu-Dramard, M., Barth, M., Blaumeiser, B., Masurel, A., Cailler, P., Olivier-Faivre, L., Malacarne, M., Coutton, C., Dieterich, K., Satre, V., Wallgren-Pettersson, C., Tensgrom, C., Kaksonen, S., Duban-Bedu, B., Holder, M., Rossi, M., Gaillard, D., Bock, D., Bednarek, N., Guillin, O., Bizzarri, V., Flori, E., Silengo, M., Kooy, R. F., Aboura, A., Beri, M., Delobel, B., Drunat, S., Jaros, Z., Kolk, A., Reigo, A., Zufferey, F., Beckmann, N., Faravelli, F., Alupay, H., Aaronson, B., Ackerman, S., Ankenman, K., Anwar, A., Atwell, C., Bowe, A., Beaudet, A. L., Benedetti, M., Berg, J., Berman, J., Berry, L. N., Bibb, A. L., Blaskey, L., Brennan, J., Brewton, C. M., Buckner, R., Bukshpun, P., Burko, J., Cali, P., Cerban, B., Chang, Y., Cheong, M., Chow, V., Chu, Z., Chudnovskaya, D., Cornew, L., Dale, C., Dell, J., Dempsey, A. G., Deschamps, T., Earl, R., Edgar, J., Elgin, J., Endre, J., Evans, Y. L., Findlay, A., Fischbach, G. D., Fisk, C., Fregeau, B., Gaetz, B., Gaetz, L., Garza, S., Gerdts, J., Glenn, O., Gobuty, S. E., Golembski, R., Greenup, M., Heiken, K., Hines, K., Hinkley, L., Jackson, F. I., Jenkins, J., Jeremy, R. J., Johnson, K., Kanne, S. M., Kessler, S., Khan, S. Y., Ku, M., Kuschner, E., Laakman, A. L., Lam, P., Lasala, M. W., Lee, H., La, K., Levy, S., Lian, A., Llorens, A. V., Loftus, K., Luks, T. L., Marco, E. J., Martin, S., Martin, A. J., Marzano, G., Masson, C., Mcgovern, K. E., Keehn, R. M., Miller, D. T., Miller, F. K., Moss, T. J., Murray, R., Nagarajan, S. S., Nowell, K. P., Owen, J., Paal, A. M., Packer, A., Page, P. Z., Paul, B. M., Peters, A., Peterson, D., Poduri, A., Pojman, N. J., Porche, K., Proud, M. B., Qasmieh, S., Ramocki, M. B., Reilly, B., Roberts, T. P. L., Shaw, D., Sinha, T., Smith, B., Snow, A., Swarnakar, V., Thieu, T., Triantafallou, C., Vaughan, R., Wakahiro, M., Wallace, A., Ward, T., Wenegrat, J., Wolken, A.

المساهمون: Blaumeiser, Bettina, Kooy, Frank, Other departments, Cardiff University Experiences of Children With Copy Number Variants (ECHO) Study, 16p11.2 European Consortium, Simons Variation in Individuals Project (VIP) Consortium, Knoers, VA., Martinet, D., Belfiore, M., Cuvellier, JC., de Vries, B., Delrue, MA., Doco-Fenzy, M., Lebel, R., Leheup, B., Lewis, S., Mencarelli, MA., Minet, JC., Vincent-Delorme, C., Moerman, A., Mucciolo, M., Ounap, K., Rajcan-Separovic, E., Renieri, A., Sanlaville, D., Faas, BH., Koolen, DA., Vulto-van Silfhout, A., de Leeuw, N., Rosenfeld, JA., Filges, I., Achatz, E., Roetzer, KM., Bonneau, D., Guichet, A., Lazaro, L., Plessis, G., Kroisel, PM., Reis, A., Jonveaux, P., Chantot-Bastaraud, S., Rauch, A., Demeer, B., Nordgren, A., Labalme, A., Ferrarini, A., Ramelli, GP., Guilmatre, A., Joly-Helas, G., Haize, S., Layet, V., Le Gallic, S., de Fréminville, B., Touraine, R., Van Binsbergen, E., Mathieu-Dramard, M., Barth, M., Blaumeiser, B., Masurel, A., Cailler, P., Olivier-Faivre, L., Malacarne, M., Coutton, C., Dieterich, K., Satre, V., Wallgren-Pettersson, C., Tensgrom, C., Kaksonen, S., Duban-Bedu, B., Holder, M., Rossi, M., Gaillard, D., Bock, D., Bednarek, N., Guillin, O., Bizzarri, V., Flori, E., Silengo, M., Kooy, RF., Aboura, A., Beri, M., Delobel, B., Drunat, S., Jaros, Z., Kolk, A., Reigo, A., Zufferey, F., Beckmann, N., Faravelli, F., Alupay, H., Aaronson, B., Ackerman, S., Ankenman, K., Anwar, A., Atwell, C., Bowe, A., Beaudet, AL., Benedetti, M., Berg, J., Berman, J., Berry, LN., Bibb, AL., Blaskey, L., Brennan, J., Brewton, CM., Buckner, R., Bukshpun, P., Burko, J., Cali, P., Cerban, B., Chang, Y., Cheong, M., Chow, V., Chu, Z., Chudnovskaya, D., Cornew, L., Dale, C., Dell, J., Dempsey, AG., Deschamps, T., Earl, R., Edgar, J., Elgin, J., Olson, JE., Evans, YL., Findlay, A., Fischbach, GD., Fisk, C., Fregeau, B., Gaetz, B., Gaetz, L., Garza, S., Gerdts, J., Glenn, O., Gobuty, SE., Golembski, R., Greenup, M., Heiken, K., Hines, K., Hinkley, L., Jackson, FI., Jenkins J.3rd, Jeremy, RJ., Johnson, K., Kanne, SM., Kessler, S., Khan, SY., Ku, M., Kuschner, E., Laakman, AL., Lam, P., Lasala, MW., Lee, H., LaGuerre, K., Levy, S., Lian Cavanagh, A., Llorens, AV., Loftus Campe, K., Luks, TL., Marco, EJ., Martin, S., Martin, AJ., Marzano, G., Masson, C., McGovern, KE., McNally Keehn, R., Miller, DT., Miller, FK., Moss, TJ., Murray, R., Nagarajan, SS., Nowell, KP., Owen, J., Paal, AM., Packer, A., Page, PZ., Paul, BM., Peters, A., Peterson, D., Poduri, A., Pojman, NJ., Porche, K., Proud, MB., Qasmieh, S., Ramocki, MB., Reilly, B., Roberts, TP., Shaw, D., Sinha, T., Smith-Packard, B., Snow Gallagher, A., Swarnakar, V., Thieu, T., Triantafallou, C., Vaughan, R., Wakahiro, M., Wallace, A., Ward, T., Wenegrat, J., Wolken, A., Human genetics, Amsterdam Neuroscience - Complex Trait Genetics, Amsterdam Reproduction & Development (AR&D)

المصدر: JAMA psychiatry
Cardiff University Experiences of Children With Copy Number Variants (ECHO) Study 2016, ' Defining the Effect of the 16p11.2 Duplication on Cognition, Behavior, and Medical Comorbidities ', JAMA Psychiatry, vol. 73, no. 1, pp. 20-30 . https://doi.org/10.1001/jamapsychiatry.2015.2123
JAMA PSYCHIATRY
JAMA psychiatry, 73(1), 20-30. American Medical Association
JAMA Psychiatry, 73, 1, pp. 20-30
JAMA Psychiatry
Jama Psychiatry, vol. 73, no. 1, pp. 20-30
JAMA Psychiatry, 73(1), 20. American Medical Association
JAMA Psychiatry, 73(1), 20-30. American Medical Association
JAMA Psychiatry, 73, 20-30

مصطلحات موضوعية: Male, 0301 basic medicine, Proband, Pediatrics, Autism Spectrum Disorder, Developmental Disabilities, Chromosome Disorders, Comorbidity, Nonverbal learning disorder, Cohort Studies, Cognition, 0302 clinical medicine, Cerebellum, Chromosome Duplication, Gene duplication, Copy-number variation, Non-U.S. Gov't, Child, 2. Zero hunger, Intelligence quotient, Research Support, Non-U.S. Gov't, Middle Aged, Psychiatry and Mental health, Microcephaly, Female, Schizophrenic Psychology, Chromosome Deletion, Psychology, Rare cancers Radboud Institute for Health Sciences [Radboudumc 9], Human, Adult, medicine.medical_specialty, Adolescent, DNA Copy Number Variations, Research Support, Nervous System Malformations, Article, Chromosomes, Young Adult, 03 medical and health sciences, Intellectual Disability, Journal Article, medicine, Humans, Autistic Disorder, Preschool, Psychiatry, Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7], Epilepsy, Pair 16, Other Research Radboud Institute for Health Sciences [Radboudumc 0], Case-control study, Autism Spectrum Disorder/epidemiology, Autism Spectrum Disorder/genetics, Autistic Disorder/epidemiology, Autistic Disorder/genetics, Case-Control Studies, Cerebellum/abnormalities, Child, Preschool, Chromosome Disorders/epidemiology, Chromosome Disorders/genetics, Chromosomes, Human, Pair 16/genetics, Developmental Disabilities/epidemiology, Developmental Disabilities/genetics, Epilepsy/epidemiology, Epilepsy/genetics, Intellectual Disability/epidemiology, Intellectual Disability/genetics, Microcephaly/epidemiology, Microcephaly/genetics, Nervous System Malformations/epidemiology, Nervous System Malformations/genetics, Schizophrenia/epidemiology, Schizophrenia/genetics, medicine.disease, 030104 developmental biology, Chromosomes, Human, Pair 16, Schizophrenia, Autism, Human medicine, 030217 neurology & neurosurgery

وصف الملف: image/pdf; pdf; application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::221714038bda1846e56d6e2e8e45f87a
http://archpsyc.jamanetwork.com/article.aspx?articleid=2471269

المؤلفون: Dell'Orto V. G., Belotti E. A., Goeggel-Simonetti B., Simonetti G. D., Ramelli G. P., Bianchetti M. G., Lava S. A. G.

المساهمون: Dell'Orto, V. G., Belotti, E. A., Goeggel-Simonetti, B., Simonetti, G. D., Ramelli, G. P., Bianchetti, M. G., Lava, S. A. G.

مصطلحات موضوعية: Acidosi, citraturia, hyperuricaemia, hypokalaemia, renal stone promotion, topiramate

Relation: info:eu-repo/semantics/altIdentifier/wos/WOS:000337519900006; volume:77; issue:6; firstpage:958; lastpage:964; numberofpages:7; journal:BRITISH JOURNAL OF CLINICAL PHARMACOLOGY; https://hdl.handle.net/11381/2939842; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84901320118

الاتاحة: https://hdl.handle.net/11381/2939842
https://doi.org/10.1111/bcp.12283

المؤلفون: Salvaterra, E., Giorda, R., Bassi, M. T., Borgatti, R., Knudsen, L., Martinuzzi, A., Nobile, M., Pozzoli, U., Ramelli, G. P., Reni, G. L., Rivolta, D., Stazi, M. A., Strazzer, S., Thijs, C., Toccaceli, V., Trabacca, A., Turconi, A. C., Zanini, S., Zucca, C., Bresolin, N., Lenzi, L.

المصدر: Salvaterra , E , Giorda , R , Bassi , M T , Borgatti , R , Knudsen , L , Martinuzzi , A , Nobile , M , Pozzoli , U , Ramelli , G P , Reni , G L , Rivolta , D , Stazi , M A , Strazzer , S , Thijs , C , Toccaceli , V , Trabacca , A , Turconi , A C , Zanini , S , Zucca , C , Bresolin , N & Lenzi , L 2014 , Research biobanks in pediatrics : Ethical, legal and social ....

مصطلحات موضوعية: droit, hisphilso

Relation: https://curis.ku.dk/portal/da/publications/research-biobanks-in-pediatrics(1e837822-a7fb-41fd-9795-520e4262bfb6).html

الاتاحة: https://curis.ku.dk/portal/da/publications/research-biobanks-in-pediatrics(1e837822-a7fb-41fd-9795-520e4262bfb6).html

المؤلفون: Grunt, S., Mazenauer, L., Buerki, S. E., Boltshauser, E., Mori, A. C., Datta, A. N., Fluss, Joel Victor, Mercati, D., Keller, E., Maier, O., Poloni, C., Ramelli, G.-P., Schmitt-Mechelke, T., Steinlin, M.

المصدر: ISSN: 0031-4005 ; Pediatrics, vol. 135, no. 5 (2015) p. e1220-e1228.

مصطلحات موضوعية: info:eu-repo/classification/ddc/618

Relation: https://archive-ouverte.unige.ch/unige:83764; unige:83764

الاتاحة: https://archive-ouverte.unige.ch/unige:83764

المؤلفون: Peruzzo, M., Leuthardt, R., De Rosa, V., Hamitga, F., Wyttenbach, M., Bianchetti, M. G., Ramelli, G. P.

Relation: Peruzzo, M. and Leuthardt, R. and De Rosa, V. and Hamitga, F. and Wyttenbach, M. and Bianchetti, M. G. and Ramelli, G. P. (2011) La Malattia del pinguino. Medical Tribune, Vol. 76. pp. 387-389.; urn:ISSN:0170-1894

الاتاحة: http://edoc.unibas.ch/dok/A6008110
https://edoc.unibas.ch/31109/

المؤلفون: Buerki, S, Roellin, K, Remonda, L, Mercati, D G, Jeannet, P Y, Keller, E, Luetschg, J, Menache, C, Ramelli, G P, Schmitt-Mechelke, T, Weissert, M, Boltshauser, E, Steinlin, M

الاتاحة: https://dx.doi.org/10.5167/uzh-36767
https://www.zora.uzh.ch/id/eprint/36767

المؤلفون: Ramelli, G. P.

Relation: Ramelli, G. P. (2010) Dystrobrevin isoform expression in patients with neuromuscular disease. Clinical neuropathology, Vol. 29. pp. 254-261.; info:pmid/20569677

الاتاحة: http://edoc.unibas.ch/dok/A6005193
https://edoc.unibas.ch/26863/

المؤلفون: Ramelli, G. P., Silacci, C., Ferrarini, A., Cattaneo, C., Visconti, P., Pescia, G.

Relation: Ramelli, G. P. and Silacci, C. and Ferrarini, A. and Cattaneo, C. and Visconti, P. and Pescia, G. (2008) Microduplication 22q11.2 in a child with autism spectrum disorder : clinical and genetic study. Developmental medicine and child neurology, Vol. 50, H. 12. pp. 953-955.; info:pmid/19046189; urn:ISSN:0012-1622

الاتاحة: http://edoc.unibas.ch/dok/A6004274
https://edoc.unibas.ch/32674/
https://doi.org/10.1111/j.1469-8749.2008.03048.x

المؤلفون: Pavlovic, J., Kaufmann, F., Boltshauser, E., Capone Mori, A., Gubser Mercati, D., Haenggeli, C. A., Keller, E., Lutschg, J., Marcoz, J. P., Ramelli, G. P., Roulet Perez, E., Schmitt-Mechelke, T., Weissert, M., Steinlin, M.

المصدر: Neuropediatrics, vol. 37, no. 1, pp. 13-9

مصطلحات موضوعية: Adolescent Age Factors Brain Infarction/pathology/physiopathology Cerebrovascular Accident/*physiopathology Child Child, Preschool Educational Status Female Follow-Up Studies Humans Intelligence/*physiology Intelligence Tests Male Mental Processes/*physiology Neuropsychological Tests/*statistics & numerical data Outcome Assessment (Health Care) Sex Characteristics Switzerland/epidemiology

Relation: info:eu-repo/semantics/altIdentifier/pmid/16541363; info:eu-repo/semantics/altIdentifier/pissn/0174-304X; https://serval.unil.ch/notice/serval:BIB_1E8AE2EBE529

الاتاحة: https://serval.unil.ch/notice/serval:BIB_1E8AE2EBE529
https://doi.org/10.1055/s-2006-923932

المؤلفون: Pavlovic, J, Kaufmann, F, Boltshauser, E, Capone Mori, A, Gubser Mercati, D, Haenggeli, Charles-Antoine, Keller, E, Lütschg, J, Marcoz, J-P, Ramelli, G-P, Roulet Perez, E, Schmitt-Mechelke, T, Weissert, M, Steinlin, M

المصدر: ISSN: 0174-304X ; Neuropediatrics, vol. 37, no. 1 (2006) p. 13-19.

مصطلحات موضوعية: info:eu-repo/classification/ddc/618, Adolescent, Age Factors, Brain Infarction/pathology/physiopathology, Child, Preschool, Educational Status, Female, Follow-Up Studies, Humans, Intelligence/physiology, Intelligence Tests, Male, Mental Processes/physiology, Neuropsychological Tests/statistics & numerical data, Outcome Assessment (Health Care), Sex Characteristics, Stroke/physiopathology, Switzerland/epidemiology

Relation: info:eu-repo/semantics/altIdentifier/pmid/16541363; https://archive-ouverte.unige.ch/unige:54943; unige:54943

الاتاحة: https://archive-ouverte.unige.ch/unige:54943

المؤلفون: Ramelli, G P, Joncourt, F, Luetschg, J, Weis, J, Tolnay, M, Burgunder, J M

المصدر: Ramelli, G P; Joncourt, F; Luetschg, J; Weis, J; Tolnay, M; Burgunder, J M (2006). Becker muscular dystrophy with marked divergence between clinical and molecular genetic findings: case series. Swiss medical weekly, 136(11-12), pp. 189-93. Muttenz: EMH Schweizerischer Ärzteverlag

Relation: https://boris.unibe.ch/20959/

الاتاحة: https://boris.unibe.ch/20959/

المؤلفون: Steinlin, M., Pfister, I., Pavlovic, J., Everts, R., Boltshauser, E., Capone Mori, A., Gubser Mercati, D., Hanggeli, C. A., Keller, E., Luetschg, J., Marcoz, J., Ramelli, G. P., Roulet Perez, E., Schmitt-Mechelke, T., Weissert, M.

المصدر: Neuropediatrics, vol. 36, no. 2, pp. 90-7

مصطلحات موضوعية: Adolescent Age Factors Analysis of Variance Brain Infarction/diagnosis Cerebrovascular Accident/classification/*epidemiology Child Child, Preschool *Cohort Studies Female Functional Laterality History, Ancient Humans Incidence Infant Magnetic Resonance Imaging/methods Male Neurologic Examination/methods Questionnaires *Registries Retrospective Studies Risk Factors Switzerland/epidemiology Time Factors

Relation: info:eu-repo/semantics/altIdentifier/pmid/15822021; info:eu-repo/semantics/altIdentifier/pissn/0174-304X; https://serval.unil.ch/notice/serval:BIB_DA3B73C9CBD4

الاتاحة: https://serval.unil.ch/notice/serval:BIB_DA3B73C9CBD4
https://doi.org/10.1055/s-2005-837658

المؤلفون: Tosi, F., Bianda, N. D., Truttmann, A. C., Crosazzo, L., Bianchetti, M. G., Bettinelli, A., Ramelli, G. P.

المصدر: American Journal of Medicine, vol. 116, no. 8, pp. 573-574

مصطلحات موضوعية: Adolescent Adult Child Child, Preschool Female Humans Kidney Diseases/*blood/genetics Magnesium/*blood Male

Relation: info:eu-repo/semantics/altIdentifier/pmid/15063827; info:eu-repo/semantics/altIdentifier/pissn/0002-9343; https://serval.unil.ch/notice/serval:BIB_C638599D2E99

الاتاحة: https://serval.unil.ch/notice/serval:BIB_C638599D2E99
https://doi.org/10.1016/j.amjmed.2003.11.030