المؤلفون: Ivanovski I, Djuric O, Broccoli S, Caraffi SG, Accorsi P, Adam MP, Avela K, Badura-Stronka M, Bayat A, Clayton-Smith J, Cocco I, Cordelli DM, Cuturilo G, Di Pisa V, Garcia JD, Gastaldi R, Giordano L, Guala A, Hoei-Hansen C, Inaba M, Iodice A, Nielsen JEK, Kuburovic V, Lazalde-Medina B, Malbora B, Mizuno S, Moldovan O, Moller RS, Muschke P, Otelli V, Pantaleoni C, Piscopo C, Poch-Olive ML, Prpic I, Reina PM, Raviglione F, Ricci E, Scarano E, Simonte G, Smigiel R, Tanteles G, Tarani L, Trimouille A, Valera ET, Vergano SS, Writzl K, Callewaert B, Savasta S, Street ME, Iughetti L, Bernasconi S, Rossi PG, Garavelli L

المساهمون: Ivanovski, I, Djuric, O, Broccoli, S, Caraffi, Sg, Accorsi, P, Adam, Mp, Avela, K, Badura-Stronka, M, Bayat, A, Clayton-Smith, J, Cocco, I, Cordelli, Dm, Cuturilo, G, Di Pisa, V, Garcia, Jd, Gastaldi, R, Giordano, L, Guala, A, Hoei-Hansen, C, Inaba, M, Iodice, A, Nielsen, Jek, Kuburovic, V, Lazalde-Medina, B, Malbora, B, Mizuno, S, Moldovan, O, Moller, R, Muschke, P, Otelli, V, Pantaleoni, C, Piscopo, C, Poch-Olive, Ml, Prpic, I, Reina, Pm, Raviglione, F, Ricci, E, Scarano, E, Simonte, G, Smigiel, R, Tanteles, G, Tarani, L, Trimouille, A, Valera, Et, Vergano, S, Writzl, K, Callewaert, B, Savasta, S, Street, Me, Iughetti, L, Bernasconi, S, Rossi, Pg, Garavelli, L

مصطلحات موضوعية: Mowat-Wilson syndrome, ZEB2, Growth chart, Weight, Length, Height, Head circumference, Body mass index, BMI

Relation: info:eu-repo/semantics/altIdentifier/pmid/32539836; info:eu-repo/semantics/altIdentifier/wos/WOS:000542252700002; volume:15; issue:1; numberofpages:12; journal:ORPHANET JOURNAL OF RARE DISEASES; http://hdl.handle.net/11584/344613; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85086624343

الاتاحة: http://hdl.handle.net/11584/344613
https://doi.org/10.1186/s13023-020-01418-4

المؤلفون: Ivanovski, I, Djuric, O, Caraffi, SG, Santodirocco, D, Pollazzon, M, Rosato, S, Cordelli, D M, Abdalla, E, Accorsi, P, Adam, MP, Ajmone, PF, Badura-Stronka, M, Baldo, C, Baldi, M, Bayat, A, Bigoni, S, Bonvicini, F, Breckpot, J, Callewaert, B, Cocchi, G, Cuturilo, G, De Brasi, D, DeVriendt, K, Dinulos, MB, Hjortshoj, TD, Epifanio, R, Faravelli, F, Fiumara, A, Formisano, D, Giordano, L, Grasso, M, Gronborg, S, Iodice, A, Iughetti, L, Kuburovic, V, Kutkowska-Kazmierczak, A, Lacombe, D, Lo Rizzo, C, Luchetti, A, Malbora, B, Mammi, I, Mari, F, Montorsi, G, Moutton, S, Moller, RS, Muschke, P, Nielsen, JEK, Obersztyn, E, Pantaleoni, C, Pellicciari, A, Pisanti, MA, Prpic, I, Poch-Olive, ML, Raviglione, F, Renieri, A, Ricci, E, Rivieri, F, Santen, GW, Savasta, S, Scarano, G, Schanze, I, Selicorni, A, Silengo, M, Smigiel, R, Spaccini, L, Sorge, G, Szczaluba, K, Tarani, L, Tone, LG, Toutain, A, Trimouille, A, Valera, ET, Vergano, SS, Zanotta, N, Zenker, M, Conidi, Andrea, Zollino, M, Rauch, A, Zweier, C, Garavelli, L

المصدر: Ivanovski , I , Djuric , O , Caraffi , SG , Santodirocco , D , Pollazzon , M , Rosato , S , Cordelli , D M , Abdalla , E , Accorsi , P , Adam , MP , Ajmone , PF , Badura-Stronka , M , Baldo , C , Baldi , M , Bayat , A , Bigoni , S , Bonvicini , F , Breckpot , J , Callewaert , B , Cocchi , G , Cuturilo , G , De Brasi , D , DeVriendt , K , Dinulos , MB , Hjortshoj ....

مصطلحات موضوعية: /dk/atira/pure/keywords/researchprograms/AFL001000/EMCMGC021302, name=EMC MGC-02-13-02

وصف الملف: application/pdf

الاتاحة: https://pure.eur.nl/en/publications/4b4c8f16-695b-49be-91d2-48752f3de9da
https://doi.org/10.1038/gim.2017.221
https://pure.eur.nl/ws/files/47977608/RePub-114496-OA.pdf
http://hdl.handle.net/1765/114496

المؤلفون: Garavelli L, Ivanovski I, Caraffi SG, Santodirocco D, Pollazzon M, Cordelli DM, Abdalla E, Accorsi P, Adam MP, Baldo C, Bayat A, Belligni E, Bonvicini F, Breckpot J, Callewaert B, Cocchi G, Cuturilo G, Devriendt K, Dinulos MB, Djuric O, Epifanio R, Faravelli F, Formisano D, Giordano L, Grasso M, Grønborg S, Iodice A, Iughetti L, Lacombe D, Maggi M, Malbora B, Mammi I, Moutton S, Møller R, Muschke P, Napoli M, Pantaleoni C, Pascarella R, Pellicciari A, Poch-Olive ML, Raviglione F, Rivieri F, Russo C, Savasta S, Scarano G, Selicorni A, Silengo M, Sorge G, Tarani L, Tone LG, Toutain A, Trimouille A, Valera ET, Vergano SS, Zanotta N, Zollino M, Dobyns WB, Paciorkowski AR

المساهمون: Garavelli, L, Ivanovski, I, Caraffi, Sg, Santodirocco, D, Pollazzon, M, Cordelli, Dm, Abdalla, E, Accorsi, P, Adam, Mp, Baldo, C, Bayat, A, Belligni, E, Bonvicini, F, Breckpot, J, Callewaert, B, Cocchi, G, Cuturilo, G, Devriendt, K, Dinulos, Mb, Djuric, O, Epifanio, R, Faravelli, F, Formisano, D, Giordano, L, Grasso, M, Grønborg, S, Iodice, A, Iughetti, L, Lacombe, D, Maggi, M, Malbora, B, Mammi, I, Moutton, S, Møller, R, Muschke, P, Napoli, M, Pantaleoni, C, Pascarella, R, Pellicciari, A, Poch-Olive, Ml, Raviglione, F, Rivieri, F, Russo, C, Savasta, S, Scarano, G, Selicorni, A, Silengo, M, Sorge, G, Tarani, L, Tone, Lg, Toutain, A, Trimouille, A, Valera, Et, Vergano, S, Zanotta, N, Zollino, M, Dobyns, Wb, Paciorkowski, Ar

مصطلحات موضوعية: agenesis of corpus callosum, brain MRI, Genotype-phenotype correlation Mowat-wilson syndrome

Relation: info:eu-repo/semantics/altIdentifier/pmid/27831545; info:eu-repo/semantics/altIdentifier/wos/WOS:000402517400012; volume:19; issue:6; firstpage:691; lastpage:700; numberofpages:10; journal:GENETICS IN MEDICINE; https://hdl.handle.net/11584/349546; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85020205876

الاتاحة: https://hdl.handle.net/11584/349546
https://doi.org/10.1038/gim.2016.176

المؤلفون: Garavelli, L, Ivanovski, I, Caraffi, SG, Santodirocco, D, Pollazzon, M, Cordelli, DM, Abdalla, E, Accorsi, P, Adam, MP, Ajmone, P, Badura-Stronka, M, Baldo, C, Bayat, A, Belligni, E, Bigoni, S, Bonvicini, F, Breckpot, Jeroen, Callewaert, B, Gocchi, G, Cuturilo, G, De Brasi, D, Devriendt, Koenraad, Dinulos, MB, Djuric, O, Duelund HJortshoj, T, Epifanio, R, Faravelli, F, Fiumara, A, Formisano, D, Giordano, L, Grasso, M, Gronborg, S, Iodice, A, Iughetti, L, Kuburovic, V, Kutkowska-Kazmierczak, A, Lacombe, D, Lo Rizzo, C, Luchetti, A, Malbora, B, Mammi, I, Mari, F, Moutton, S, Moller, R, Muschke, P, Obersztyn, E, Pantaleoni, C, Pellicciari, A, Pisanti, MA, Poch Olive, ML, Raviglione, F, Rivieri, F, Savasta, S, Scarano, G, Schanze, I, Selicorni, A, Silengo, M, Smigiel, R, Spaccini, L, Sorge, G, Szczaluba, K, Tarani, L, Gonzaga Tone, L, Toutain, A, Trimouille, A, Terci Valera, E, Schrier Vergano, S, Zanotta, N, Zenker, M, Zollino, M, Zweieer, C, Dobyns, WB, Paciorkowski, AR

Relation: Genetic Counseling vol:27 issue:4 pages:550-553; Twenty-seventh European meeting on Dysmorphology location:Strasbourg, France date:7-9 September 2016; https://lirias.kuleuven.be/handle/123456789/560172

الاتاحة: https://lirias.kuleuven.be/handle/123456789/560172

المؤلفون: Cordelli DM, Garavelli L, Savasta S, Guerra A, Pellicciari A, Giordano L, Bonetti S, Cecconi I, Wischmeijer A, Seri M, Rosato S, Gelmini C, Della Giustina E, Ferrari AR, Zanotta N, Epifanio R, Grioni D, Malbora B, Mammi I, Mostardini R, Pantaleoni C, Doz M, Poch Olivé ML, Rivieri F, Sorge G, Simonte G, Licata F, Tarani L, Terazzi E, Mazzanti L, Cerruti Mainardi P, Boni A, Faravelli F, Grasso M, Bianchi P, Zollino M, Franzoni E., MARI, FRANCESCA, BUONI, SABRINA, GROSSO, SALVATORE

المساهمون: Cordelli, Dm, Garavelli, L, Savasta, S, Guerra, A, Pellicciari, A, Giordano, L, Bonetti, S, Cecconi, I, Wischmeijer, A, Seri, M, Rosato, S, Gelmini, C, Della Giustina, E, Ferrari, Ar, Zanotta, N, Epifanio, R, Grioni, D, Malbora, B, Mammi, I, Mari, Francesca, Buoni, Sabrina, Mostardini, R, Grosso, Salvatore, Pantaleoni, C, Doz, M, Poch Olivé, Ml, Rivieri, F, Sorge, G, Simonte, G, Licata, F, Tarani, L, Terazzi, E, Mazzanti, L, Cerruti Mainardi, P, Boni, A, Faravelli, F, Grasso, M, Bianchi, P, Zollino, M, Franzoni, E.

وصف الملف: STAMPA

Relation: info:eu-repo/semantics/altIdentifier/pmid/23322667; info:eu-repo/semantics/altIdentifier/wos/WOS:000314150600008; volume:161; issue:2; firstpage:273; lastpage:284; numberofpages:12; journal:AMERICAN JOURNAL OF MEDICAL GENETICS. PART A; http://hdl.handle.net/11365/43728; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84872913059

الاتاحة: http://hdl.handle.net/11365/43728
https://doi.org/10.1002/ajmg.a.35717

المؤلفون: Cordelli, Dm, Garavelli, L, Savasta, S, Guerra, A, Pellicciari, A, Giordano, L, Bonetti, S, Cecconi, I, Wischmeijer, A, Seri, M, Rosato, S, Gelmini, C, Della Giustina, E, Ferrari, Ar, Zanotta, N, Epifanio, R, Grioni, D, Malbora, B, Mammi, I, Mari, F, Buoni, S, Mostardini, R, Grosso, S, Pantaleoni, C, Doz, M, Poch Olivé, Ml, Rivieri, F, Sorge, G, Simonte, G, Licata, F, Tarani, L, Terazzi, E, Mazzanti, L, Cerruti Mainardi, P, Boni, A, Faravelli, F, Grasso, M, Bianchi, P, Zollino, Marcella, Franzoni, E., Zollino, Marcella (ORCID:0000-0003-4871-9519)

مصطلحات الفهرس: Adolescent, Anticonvulsants, Child, Child, Preschool, DNA Mutational Analysis, Electroencephalography, Facies, Female, Hirschsprung Disease, Homeodomain Proteins, Humans, Intellectual Disability, Male, Microcephaly, Mutation, Phenotype, Repressor Proteins, Retrospective Studies, Seizures, Valproic Acid, Young Adult, Settore MED/03 - GENETICA MEDICA, info:eu-repo/semantics/article

URL: http://hdl.handle.net/10807/52253
info:eu-repo/semantics/altIdentifier/pmid/23322667
info:eu-repo/semantics/altIdentifier/wos/WOS:000314150600008
volume:161A
issue:2
firstpage:273
lastpage:284
numberofpages:12
issueyear:2013
journal:AMERICAN JOURNAL OF MEDICAL GENETICS. PART A

المؤلفون: Laura Mazzanti, Chiara Gelmini, Roberta Epifanio, Maria Luisa Poch-Olive, Livia Garavelli, Duccio Maria Cordelli, Alessandro Pellicciari, Luigi Tarani, Isabella Mammi, Paolo Emilio Bianchi, Morena Doz, Marina Grasso, Elvio Della Giustina, Baris Malbora, Graziella Simonte, Marcella Zollino, Emanuela Terazzi, Silvia Bonetti, Antonella Boni, Salvatore Savasta, Sabrina Buoni, Azzurra Guerra, Francesca Mari, Anita Wischmeijer, Simonetta Rosato, Paola Cerruti Mainardi, Francesca Licata, I. Cecconi, Chiara Pantaleoni, Nicoletta Zanotta, Emilio Franzoni, Salvatore Grosso, Anna Rita Ferrari, Francesca Rivieri, Marco Seri, Francesca Faravelli, Rosa Mostardini, Daniele Grioni, Giovanni Sorge, Lucio Giordano

المساهمون: Cordelli DM, Garavelli L, Savasta S, Guerra A, Pellicciari A, Giordano L, Bonetti S, Cecconi I, Wischmeijer A, Seri M, Rosato S, Gelmini C, Della Giustina E, Ferrari AR, Zanotta N, Epifanio R, Grioni D, Malbora B, Mammi I, Mari F, Buoni S, Mostardini R, Grosso S, Pantaleoni C, Doz M, Poch-Olivé ML, Rivieri F, Sorge G, Simonte G, Licata F, Tarani L, Terazzi E, Mazzanti L, Cerruti Mainardi P, Boni A, Faravelli F, Grasso M, Bianchi P, Zollino M, Franzoni E.

مصطلحات موضوعية: Male, Pediatrics, medicine.medical_specialty, Microcephaly, Adolescent, ZEB2 gene, Atypical absence seizures, Mowat–Wilson syndrome, DNA Mutational Analysis, Settore MED/03 - GENETICA MEDICA, zeb2, Young Adult, Epilepsy, Intellectual Disability, mowat-wilson syndrome, Genetics, medicine, Humans, Hirschsprung Disease, epilepsy, seizures, eeg, Preschool, Child, Genetics (clinical), Retrospective Studies, Zinc Finger E-box Binding Homeobox 2, Slow-wave sleep, Homeodomain Proteins, Valproic Acid, business.industry, Seizure types, Facies, Spike-and-wave, Electroencephalography, medicine.disease, Repressor Proteins, Phenotype, Child, Preschool, Mutation, Anticonvulsants, Female, business, medicine.drug

وصف الملف: STAMPA

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6384560dfdc581cc02a3e55898ac3ee7
http://hdl.handle.net/11365/43728

المؤلفون: DEL GIUDICE, ENNIO, Romano A.

المساهمون: Narbona J, Poch-Olivé ML, DEL GIUDICE, Ennio, Romano, A.

وصف الملف: STAMPA

Relation: info:eu-repo/semantics/altIdentifier/isbn/8460051358; ispartofbook:Neuropsychologie infantile. Données récentes.; firstpage:131; lastpage:146; numberofpages:16; http://hdl.handle.net/11588/469514

الاتاحة: http://hdl.handle.net/11588/469514