المؤلفون: Grozeva D, Carss K, Spasic Boskovic O, Tejada MI, Gecz J, Shaw M, Corbett M, Haan E, Thompson E, Friend K, Hussain Z, Hackett A, Field M, Renieri A, Stevenson R, Schwartz C, Floyd JA, Bentham J, Cosgrove C, Keavney B, Bhattacharya S, Italian X. linked Mental Retardation Project, UK10K Consortium, GOLD Consortium, Hurles M, Raymond F.L. Strangoni G, D' Avanzo G, Carnevale F, RESTA, Nicoletta, Scarano G, Mazzanti L, Borgatti R, Parini B, Marchina E, Strisciuglio P, Cavalli P, Bigoni S, Zammarchi E, Faravelli F, Di Rocco M, Lerone M, Gaslini G, D'Alessandro E, Selicorni A, Pantaleoni C, Bedeschi F, Rinaldi MM, Tenconi R, Verri A, Battaglia A, Guerrini R, Priolo M, Garavelli L, Neri G, Pergola M, Galasso C, Zelante L, Ferrero G, Memo L, Turolla L, Hladnik U, Romano C, Durbin R, Barrett J, Barroso I, Davey Smith G, Farooqi IS, O' Rahilly S, Palotie A, Soranzo N, Spector T, Zeggini E, Beales P, Blackwood D, Bolton P, Breen G, Chatterjee K, Collier D, Fitzpatrick D, Gallagher L, Geschwind D, Gurling H, Humphries S, McGuffin P, Monaco A, Muntoni F, Owen M, Raymond L, Savage D, Scambler P, Semple R, Skuse D, St Clair D, Timpson N, Van der Aa N, Ahmed A, Ajith VK, Archer H, Armstrong R, Balasubramanian M, Baralle D, Barnicoat A, Bennett C, Bernhard B, Bianciardi L, Bitner Glindzicz M, Blair E, van Bokhoven H, van Bon B, Bradley L, Brady A, Brewer C, Brunner H, Burke M, Caliebe A, Canham N, Castle B, Chandler K, Clarke A, Clayton Smith J, Clowes V, Cole T, Collins A, Cook J, Coughlin C, Cowe A, Cox H, Crow Y, Dabir T, Davies S, Deshpande D, Diderich KE, Dolling C, Donnai D, Donnelly D, Dooijes D, Dupont J, Ellis I, Van Esch H, De Filippis R, Firth H, Fisher R, Foulds N, Franco B, Fry A, Fryer A, Fuchs G, Garcia S, Gardiner C, Gibbons R, Goodship J, Green A, Greenhalgh L, Guanti G, Guilbert P, Halest MV, Haroon M, Harvey J, Henderson A, Hennekam R, Holden S, Holder S, Homfray T, Hurst J, Ionnides A, Jarvis J, Johnson DS, Jones E, Jones L, Jongmans M, Josifova D, Joss S, Kenny J, Kerr B, Kingston H, Kini U, Kivuva E, Kooy F, Kraus A, Kurian M, Lachlan K, Lam W, Lees M, Lindsay S, Longman C, Lynch S, Magee A, Van Maldergem L, Male A, Mari F, McConnell V, McGeb A, McKee S, McKeown C, McWilliam C, Medeira A, Mehta S, Metcalfe K, Mohammed S, Morton J, Murday V, Newbury Ecob R, Nik Zainal' S, Norman A, Park SM, Parker MJ, Prescott K, Price S, Procter A, Quarrell O, Rankin J, Rea G, Reardon W, Robert L, Rosser E, Sandford R, Scott R, Scurr I, Senger G, Sharif S, Shaw A, Shaw C, Shears D, Smithson S, Splitt M, Stewart A, Stewart F, Stewart H, Suri M, Sweeney E, Taffinder S, Tanteles G, Temple K, Thompson J, Tocher J, Tomkins S, Turner C, Turnpenny P, Vanderstein A, Vasudevan P, Villard L, Visser L, Wakeling E, Weber A, Williams D, Wilson L, Woods G, Wright M, Writzl K, Yates L.

المساهمون: Grozeva, D, Carss, K, Spasic Boskovic, O, Tejada, Mi, Gecz, J, Shaw, M, Corbett, M, Haan, E, Thompson, E, Friend, K, Hussain, Z, Hackett, A, Field, M, Renieri, A, Stevenson, R, Schwartz, C, Floyd, Ja, Bentham, J, Cosgrove, C, Keavney, B, Bhattacharya, S, Italian X., linked Mental Retardation Project, Uk10k, Consortium, Gold, Consortium, Hurles, M, Strangoni G, Raymond F. L., D' Avanzo, G, Carnevale, F, Resta, Nicoletta, Scarano, G, Mazzanti, L, Borgatti, R, Parini, B, Marchina, E, Strisciuglio, P, Cavalli, P, Bigoni, S, Zammarchi, E, Faravelli, F, Di Rocco, M, Lerone, M, Gaslini, G, D'Alessandro, E, Selicorni, A, Pantaleoni, C, Bedeschi, F, Rinaldi, Mm, Tenconi, R, Verri, A, Battaglia, A, Guerrini, R, Priolo, M, Garavelli, L, Neri, G, Pergola, M, Galasso, C, Zelante, L, Ferrero, G, Memo, L, Turolla, L, Hladnik, U, Romano, C, Durbin, R, Barrett, J, Barroso, I, Davey Smith, G, Farooqi, I, O' Rahilly, S, Palotie, A, Soranzo, N, Spector, T, Zeggini, E, Beales, P, Blackwood, D, Bolton, P, Breen, G, Chatterjee, K, Collier, D, Fitzpatrick, D, Gallagher, L, Geschwind, D, Gurling, H, Humphries, S, Mcguffin, P, Monaco, A, Muntoni, F, Owen, M, Raymond, L, Savage, D, Scambler, P, Semple, R, Skuse, D, St Clair, D, Timpson, N, Van der Aa, N, Ahmed, A

مصطلحات موضوعية: SETD5, ATRX, CUL4B, MECP2

Relation: info:eu-repo/semantics/altIdentifier/pmid/26350204; info:eu-repo/semantics/altIdentifier/wos/WOS:000364788500012; volume:36; issue:12; firstpage:1197; lastpage:1204; numberofpages:8; journal:HUMAN MUTATION; http://hdl.handle.net/11586/178176; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84947019265

الاتاحة: http://hdl.handle.net/11586/178176
https://doi.org/10.1002/humu.22901

المؤلفون: Filoni, C., Caciotti, A., Carraresi, L., Cavicchi, C., Parini, R., Antuzzi, D., Zampetti, A., Feriozzi, S., Poisetti, P., Garman, S.C., Guerrini, R., Zammarchi, E., Donati, M.A., Morrone, A.

المساهمون: Clinic of Pediatric Neurology, San Gerardo Hospital, Catholic University Hospital “A. Gemelli”, Belcolle Hospital, Piacenza Hospital

المصدر: ISSN: 0925-4439 ; Biochimica et Biophysica Acta - Molecular Basis of Disease ; https://hal.archives-ouvertes.fr/hal-00556270 ; Biochimica et Biophysica Acta - Molecular Basis of Disease, Elsevier, 2010, ⟨10.1016/j.bbadis.2009.11.003⟩.

مصطلحات موضوعية: Fabry disease, 1-deoxygalactonojirimicin, Chaperones, α-galactosidase, [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology

Relation: hal-00556270; https://hal.archives-ouvertes.fr/hal-00556270; https://hal.archives-ouvertes.fr/hal-00556270/document; https://hal.archives-ouvertes.fr/hal-00556270/file/PEER_stage2_10.1016%252Fj.bbadis.2009.11.003.pdf

الاتاحة: https://hal.archives-ouvertes.fr/hal-00556270
https://hal.archives-ouvertes.fr/hal-00556270/document
https://hal.archives-ouvertes.fr/hal-00556270/file/PEER_stage2_10.1016%252Fj.bbadis.2009.11.003.pdf
https://doi.org/10.1016/j.bbadis.2009.11.003

المؤلفون: Morrone, A, Cavicchi, C, Bardelli, T, Antuzzi, D, Parini, R, Di Rocco, M, Feriozzi, S, Gabrielli, O, Barone, R, Pistone, G, Spisni, C, Ricci, R, Zammarchi, E

مصطلحات موضوعية: Online mutation reports

وصف الملف: text/html

Relation: http://jmg.bmj.com/cgi/content/short/40/8/e103; http://dx.doi.org/10.1136/jmg.40.8.e103

الاتاحة: http://jmg.bmj.com/cgi/content/short/40/8/e103
https://doi.org/10.1136/jmg.40.8.e103

المؤلفون: Zhou, XY, van der Spoel, A, Rottier, R, Hale, G, Willemsen, R, Berry, GT, Strisciuglio, P, Morrone, A, Zammarchi, E, Andria, G, d'Azzo, A

مصطلحات موضوعية: ARTICLES

وصف الملف: text/html

Relation: http://hmg.oxfordjournals.org/cgi/content/short/5/12/1977; http://dx.doi.org/10.1093/hmg/5.12.1977

الاتاحة: http://hmg.oxfordjournals.org/cgi/content/short/5/12/1977
https://doi.org/10.1093/hmg/5.12.1977

المؤلفون: Falcini, F., Pignone, A., Matucci-cerinic, M., Camiciottoli, G., Taccetti, G., Trapani, S., Zammarchi, E., Lombardi, A., Bartolozzi, G., Cagnoni, M.

المصدر: Scandinavian Journal of Rheumatology ; volume 21, issue 2, page 82-84 ; ISSN 0300-9742 1502-7732

الاتاحة: http://dx.doi.org/10.3109/03009749209095073
http://www.tandfonline.com/doi/pdf/10.3109/03009749209095073

المؤلفون: Cosma, M, Pepe, S, Parenti, G, Settembre, C, Annunziata, I, Wade-Martins, R, Di Domenico, C, Di Natale, P, Mankad, A, Cox, B, Uziel, G, Mancini, G, Zammarchi, E, Donati, M, Kleijer, W, Filocamo, M, Carrozzo, R, Carella, M, Ballabio, A

Relation: https://ora.ox.ac.uk/objects/uuid:a1951c54-bc20-446a-be39-00aae344cb1c; https://doi.org/10.1002/humu.20040

الاتاحة: https://doi.org/10.1002/humu.20040
https://ora.ox.ac.uk/objects/uuid:a1951c54-bc20-446a-be39-00aae344cb1c

المؤلفون: Caicchi C, Donati A, Pasquini E, Parini R, Furlan F, Sibilio M, Dionisi Vici C, Bartuli A, Papadia F, Zammarchi E, Guerrini R, Morrone A., PARENTI, GIANCARLO

المساهمون: Caicchi, C, Donati, A, Pasquini, E, Parini, R, Furlan, F, Sibilio, M, Parenti, Giancarlo, Dionisi Vici, C, Bartuli, A, Papadia, F, Zammarchi, E, Guerrini, R, Morrone, A.

وصف الملف: STAMPA

Relation: volume:31; firstpage:23; lastpage:23; numberofpages:1; journal:JOURNAL OF INHERITED METABOLIC DISEASE; http://hdl.handle.net/11588/481983

الاتاحة: http://hdl.handle.net/11588/481983

المؤلفون: CACIOTTI A., DONATI M. A., BONEH A., D'AZZO A., FEDERICO A., PARINI R., ANTUZZI D., BARDELLI T., NOSI D., KIMONIS V., ZAMMARCHI E., MORRONE A.

المساهمون: Caciotti, A., Donati, M. A., Boneh, A., D'Azzo, A., Federico, A., Parini, R., Antuzzi, D., Bardelli, T., Nosi, D., Kimonis, V., Zammarchi, E., Morrone, A.

مصطلحات موضوعية: β-galactosidosi, Elastic fiber, Elastin binding protein, GLB1L, ysosomal complex

وصف الملف: STAMPA

Relation: info:eu-repo/semantics/altIdentifier/pmid/15714521; info:eu-repo/semantics/altIdentifier/wos/WOS:000227362800008; volume:25; issue:3; firstpage:285; lastpage:292; numberofpages:8; journal:HUMAN MUTATION; http://hdl.handle.net/11365/27179; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-20144384266

الاتاحة: http://hdl.handle.net/11365/27179
https://doi.org/10.1002/humu.20147
http://onlinelibrary.wiley.com/doi/10.1002/humu.20147/abstract?systemMessage=Wiley+Online+Library+will+be+disrupted+on+26+May+from+10:00-12:00+BST+(05:00-07:00+EDT)+for+essential+maintenance

المؤلفون: MELIS, D., FULCERI, R., PARENTI, G., MARCOLONGO, P., GATTI, R., PARINI, R., RIVA, E., DELLA CASA, R., ZAMMARCHI, E., ANDRIA, G., BENEDETTI, A.

المساهمون: Melis, D., Fulceri, R., Parenti, G., Marcolongo, P., Gatti, R., Parini, R., Riva, E., DELLA CASA, R., Zammarchi, E., Andria, G., Benedetti, A.

مصطلحات موضوعية: glycogen storage disease type 1b, mutation analysi, neutropenia, recurrent infection, systemic complications

وصف الملف: STAMPA

Relation: info:eu-repo/semantics/altIdentifier/pmid/15906092; info:eu-repo/semantics/altIdentifier/wos/WOS:000230811500007; volume:164; issue:8; firstpage:501; lastpage:508; numberofpages:8; journal:EUROPEAN JOURNAL OF PEDIATRICS; http://hdl.handle.net/11365/2493; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-23044433600; http://dx.doi.org/10.1007/s00431-005-1657-4

الاتاحة: http://hdl.handle.net/11365/2493
https://doi.org/10.1007/s00431-005-1657-4

المؤلفون: MELIS, DANIELA, PARENTI, GIANCARLO, DELLA CASA, ROBERTO, ANDRIA, GENEROSO, FULCERI R, MARCOLONGO P, GATTI R, PARINI R, RIVA E, ZAMMARCHI E, BENEDETTI A.

المساهمون: Melis, Daniela, Fulceri, R, Parenti, Giancarlo, Marcolongo, P, Gatti, R, Parini, R, Riva, E, DELLA CASA, Roberto, Zammarchi, E, Andria, Generoso, Benedetti, A.

وصف الملف: STAMPA

Relation: volume:164; firstpage:501; lastpage:508; numberofpages:7; journal:EUROPEAN JOURNAL OF PEDIATRICS; http://hdl.handle.net/11588/201307

الاتاحة: http://hdl.handle.net/11588/201307

المؤلفون: Ricci R, Castorina M, Di Lillo M, Antuzzi D, Parini R, Menni F, Furlan F, Burlina A, Catuogno S, Gabrielli O, Burattini I, Borsini W, Buchner S, Ferriozzi S, Spisni C, De Vito R, Di Rocco M, Aricò M, Pistone G, Bongiorno AM, Morrone A, Cavicchi C, Zammarchi E., FRUSTACI, ANDREA

المساهمون: Ricci, R, Castorina, M, Di Lillo, M, Antuzzi, D, Frustaci, Andrea, Parini, R, Menni, F, Furlan, F, Burlina, A, Catuogno, S, Gabrielli, O, Burattini, I, Borsini, W, Buchner, S, Ferriozzi, S, Spisni, C, De Vito, R, Di Rocco, M, Aricò, M, Pistone, G, Bongiorno, Am, Morrone, A, Cavicchi, C, Zammarchi, E.

وصف الملف: STAMPA

Relation: info:eu-repo/semantics/altIdentifier/pmid/15678707; volume:19; issue:4; firstpage:269; lastpage:275; numberofpages:7; journal:ANNALI ITALIANI DI MEDICINA INTERNA; http://hdl.handle.net/11573/491091

الاتاحة: http://hdl.handle.net/11573/491091

المؤلفون: Filippi L., Cecchi A., Tronchin M., Dani C., Pezzati M., Seminara S., Gasperini S., Zammarchi E., Rubaltelli F. F.

المساهمون: Filippi, L., Cecchi, A., Tronchin, M., Dani, C., Pezzati, M., Seminara, S., Gasperini, S., Zammarchi, E., Rubaltelli, F. F.

مصطلحات موضوعية: Dopamine, Hypothyroidism, Hypothyroxinaemia of prematurity

Relation: volume:163; issue:1; firstpage:7; lastpage:13; numberofpages:7; journal:EUROPEAN JOURNAL OF PEDIATRICS; http://hdl.handle.net/11568/1072183; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-0742304105

الاتاحة: http://hdl.handle.net/11568/1072183
https://doi.org/10.1007/s00431-003-1359-8

المؤلفون: Melis D, Internicola M, Majo F, Parini R, Riva E, Burlina A, Dionisi Vici C, Papadia R, Zammarchi E, PARENTI, GIANCARLO, DELLA CASA, ROBERTO, ANDRIA, GENEROSO

المساهمون: Melis, D, Parenti, Giancarlo, DELLA CASA, Roberto, Internicola, M, Majo, F, Parini, R, Riva, E, Burlina, A, Dionisi Vici, C, Papadia, R, Zammarchi, E, Andria, Generoso

وصف الملف: STAMPA

Relation: volume:27; firstpage:203; lastpage:203; numberofpages:1; journal:JOURNAL OF INHERITED METABOLIC DISEASE; http://hdl.handle.net/11588/486972

الاتاحة: http://hdl.handle.net/11588/486972

المؤلفون: COSMA MP, PEPE S, SETTEMBRE, CARMINE, ANNUNZIATA I, WADE MARTINS R, DI, DOMENICO C, DI NATALE P, MANKAD A, COX B, UZIEL G, MANCINI GM, ZAMMARCHI E, DONATI MA, KLEIJER WJ, FILOCAMO M, CARROZZO R, CARELLA M, BALLABIO, ANDREA, PARENTI, GIANCARLO

المساهمون: Cosma, Mp, Pepe, S, Parenti, Giancarlo, Settembre, Carmine, Annunziata, I, WADE MARTINS, R, Di, Domenico, C, DI NATALE, P, Mankad, A, Cox, B, Uziel, G, Mancini, Gm, Zammarchi, E, Donati, Ma, Kleijer, Wj, Filocamo, M, Carrozzo, R, Carella, M, Ballabio, Andrea

وصف الملف: STAMPA

Relation: info:eu-repo/semantics/altIdentifier/pmid/15146462; volume:23; firstpage:576; lastpage:581; numberofpages:6; journal:HUMAN MUTATION; http://hdl.handle.net/11588/204160

الاتاحة: http://hdl.handle.net/11588/204160

المؤلفون: Filippi L., Bagnoli F., Margollicci M., Zammarchi E., Tronchin M., Rubaltelli F. F.

المساهمون: Filippi, L., Bagnoli, F., Margollicci, M., Zammarchi, E., Tronchin, M., Rubaltelli, F. F.

مصطلحات موضوعية: Acetazolamide, Bone marrow suppression, Citrate, Metabolic acidosi, Posthemorrhagic ventricular dilation

وصف الملف: STAMPA

Relation: volume:50; issue:2; firstpage:125; lastpage:132; numberofpages:8; journal:JOURNAL OF INVESTIGATIVE MEDICINE; http://hdl.handle.net/11568/1072171; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-0036207995

الاتاحة: http://hdl.handle.net/11568/1072171
https://doi.org/10.2310/6650.2002.31297

المؤلفون: BISANZI S, MORRONE A, DONATI MA, PASQUINI E, SPADA M, STRISCIUGLIO, PIETRO, PARINI R, PAPADIA F, ZAMMARCHI E., PARENTI, GIANCARLO

المساهمون: Bisanzi, S, Morrone, A, Donati, Ma, Pasquini, E, Spada, M, Strisciuglio, Pietro, Parenti, Giancarlo, Parini, R, Papadia, F, Zammarchi, E.

وصف الملف: STAMPA

Relation: info:eu-repo/semantics/altIdentifier/pmid/12083811; volume:76; firstpage:137; lastpage:144; numberofpages:8; journal:MOLECULAR GENETICS AND METABOLISM; http://hdl.handle.net/11588/157330

الاتاحة: http://hdl.handle.net/11588/157330

المؤلفون: LEUZZI, R., FULCERI, R., MARCOLONGO, P., BANHEGYI, G., ZAMMARCHI, E., STAFFORD, K., BURCHELL, A., BENEDETTI, A.

المساهمون: Leuzzi, R., Fulceri, R., Marcolongo, P., Banhegyi, G., Zammarchi, E., Stafford, K., Burchell, A., Benedetti, A.

مصطلحات موضوعية: Endoplasmic reticulum, Glucose-6-phosphatase system, Glucose-6-phosphate translocase, Hexose phosphate transport system, Von Gierke's disease

وصف الملف: STAMPA

Relation: info:eu-repo/semantics/altIdentifier/pmid/11439108; info:eu-repo/semantics/altIdentifier/wos/WOS:000170112500027; volume:357; issue:2; firstpage:557; lastpage:562; numberofpages:6; journal:BIOCHEMICAL JOURNAL; http://hdl.handle.net/11365/17781; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-0035878885

الاتاحة: http://hdl.handle.net/11365/17781
https://doi.org/10.1042/0264-6021:3570557

المؤلفون: ROSSI A, BIANCHERI R, GATTI R, SCHIAFFINO MC, FONDA C, ZAMMARCHI E, TORTORI DONATI P., CERONE, ROBERTO

المساهمون: Rossi, A, Cerone, Roberto, Biancheri, R, Gatti, R, Schiaffino, Mc, Fonda, C, Zammarchi, E, TORTORI DONATI, P.

وصف الملف: STAMPA

Relation: volume:22; firstpage:544; lastpage:563; journal:AJNR, AMERICAN JOURNAL OF NEURORADIOLOGY; http://hdl.handle.net/11567/211468

الاتاحة: http://hdl.handle.net/11567/211468

المؤلفون: DE SANCTIS, Luisa, SPADA, MARCO, PONZONE, Alberto, Alliaudi C, Farrugia R, Cerone R, Biasucci G, Meli C, Zammarchi E, Coskun T, Blau N, Dianzani I.

المساهمون: de Sanctis L, Alliaudi C, Spada M, Farrugia R, Cerone R, Biasucci G, Meli C, Zammarchi E, Coskun T, Blau N, Ponzone A, Dianzani I.

Relation: info:eu-repo/semantics/altIdentifier/pmid/10896287; info:eu-repo/semantics/altIdentifier/wos/WOS:000087985300009; volume:23; issue:4; firstpage:333; lastpage:337; numberofpages:5; journal:JOURNAL OF INHERITED METABOLIC DISEASE; http://hdl.handle.net/2318/8421; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-18344402636

الاتاحة: http://hdl.handle.net/2318/8421
https://doi.org/10.1023/A:1005662710891

المؤلفون: De Leo, V., La Marca, A., Morgante, G., Ciani, F., Zammarchi, E., Setacci, C.

المساهمون: De Leo, V., La Marca, A., Morgante, G., Ciani, F., Zammarchi, E., Setacci, C.

مصطلحات موضوعية: Cardiovascular risk, Folic acid, Homocysteine, Postmenopausal, Women

وصف الملف: ELETTRONICO

Relation: info:eu-repo/semantics/altIdentifier/pmid/11035344; info:eu-repo/semantics/altIdentifier/wos/WOS:000089983200031; volume:183; issue:4; firstpage:945; lastpage:947; numberofpages:3; journal:AMERICAN JOURNAL OF OBSTETRICS AND GYNECOLOGY; http://hdl.handle.net/11365/27178; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-0033792896

الاتاحة: http://hdl.handle.net/11365/27178
https://doi.org/10.1067/mob.2000.106345