المؤلفون: Caroline St. Peter, Waheeda A. Hossain, Scott Lovell, Syed K. Rafi, Merlin G. Butler

المصدر: International Journal of Molecular Sciences, Vol 25, Iss 5, p 2838 (2024)

مصطلحات موضوعية: Mowat–Wilson syndrome (MWS), case report, review, ZEB2 gene variants, ZEB2 protein domains and defects, ZEB2 functional molecular interactions, Biology (General), QH301-705.5, Chemistry, QD1-999

Relation: https://www.mdpi.com/1422-0067/25/5/2838; https://doaj.org/toc/1661-6596; https://doaj.org/toc/1422-0067; https://doaj.org/article/d32a5696b1614d8d9a078fcd4defe72e

الاتاحة: https://doi.org/10.3390/ijms25052838
https://doaj.org/article/d32a5696b1614d8d9a078fcd4defe72e

المؤلفون: Agnieszka Tronina, Marta Świerczyńska, Erita Filipek

المصدر: Medicina; Volume 59; Issue 1; Pages: 101

مصطلحات موضوعية: Mowat Wilson syndrome, MWS, developmental cataract, Smad interaction protein 1, SIP 1, ZEB2 gene

وصف الملف: application/pdf

Relation: Ophthalmology; https://dx.doi.org/10.3390/medicina59010101

الاتاحة: https://doi.org/10.3390/medicina59010101

المؤلفون: M. Yu. Bobylova, V. S. Kakaulina, M. O. Abramov, K. Yu. Mukhin

المصدر: Русский журнал детской неврологии, Vol 16, Iss 3, Pp 10-20 (2021)

مصطلحات موضوعية: mowat-wilson syndrome, zeb2 gene, epilepsy, electroencephalography, video electroencephalography monitoring, differential diagnosis with angelman syndrome, Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

Relation: https://rjdn.abvpress.ru/jour/article/view/370; https://doaj.org/toc/2073-8803; https://doaj.org/toc/2412-9178

URL الوصول: https://doaj.org/article/c01e639bb6524fe9bcfb8c396003f20f

المؤلفون: Cano Sierra J.D., Mestra C.F., Ronderos Dumit M.A.

المصدر: instname:Universidad del Rosario ; reponame:Repositorio Institucional EdocUR

مصطلحات موضوعية: Anamnesis, Artery ligation, Article, Bronchoscopy, Case report, Clinical article, Echocardiography, Failure to thrive, Gastroesophageal reflux, Gene, Genetic disorder, Heart dilatation, Human, Image reconstruction, Incidental finding, Infant, Intensive care unit, Male, Mowat wilson syndrome, Patent ductus arteriosus, Physical examination, Pulmonary arterial sling, Pulmonary artery, Pulmonary artery malformation, Sequence analysis, Systolic heart murmur, Time to treatment, X-ray computed tomography, Zeb2 gene, Abnormalities

وصف الملف: application/pdf

Relation: https://www.scopus.com/inward/record.uri?eid=2-s2.0-85049300172&doi=10.1017%2fS1047951118000689&partnerID=40&md5=ca09a4484be74e1028af10b7fb276a92; https://doi.org/10.1017/S1047951118000689; https://repository.urosario.edu.co/handle/10336/23640

الاتاحة: https://doi.org/10.1017/S1047951118000689
https://repository.urosario.edu.co/handle/10336/23640

المؤلفون: IVANOVSKI, IVAN, Djuric, Olivera, Caraffi, Stefano Giuseppe, Santodirocco, Daniela, Pollazzon, Marzia, Rosato, Simonetta, Cordelli, Duccio Maria, Abdalla, Ebtesam, Accorsi, Patrizia, Adam, Margaret P, Ajmone, Paola Francesca, Badura-Stronka, Magdalena, Baldo, Chiara, Baldi, Maddalena, Bayat, Allan, Bigoni, Stefania, Bonvicini, Federico, Breckpot, Jeroen, Callewaert, Bert, Cocchi, Guido, Cuturilo, Goran, De Brasi, Daniele, Devriendt, Koenraad, Dinulos, Mary Beth, Hjortshøj, Tina Duelund, Epifanio, Roberta, Faravelli, Francesca, Fiumara, Agata, Formisano, Debora, Giordano, Lucio, Grasso, Marina, Grønborg, Sabine, Iodice, Alessandro, Iughetti, Lorenzo, Kuburovic, Vladimir, Kutkowska-Kazmierczak, Anna, Lacombe, Didier, Lo Rizzo, Caterina, Luchetti, Anna, Malbora, Baris, Mammi, Isabella, Mari, Francesca, MONTORSI, GIULIA, Moutton, Sebastien, Møller, Rikke S, Muschke, Petra, Nielsen, Jens Erik Klint, Obersztyn, Ewa, Pantaleoni, Chiara, Pellicciari, Alessandro, Pisanti, Maria Antonietta, Prpic, Igor, Poch-Olive, Maria Luisa, Raviglione, Federico, Renieri, Alessandra, Ricci, Emilia, Rivieri, Francesca, Santen, Gijs W, Savasta, Salvatore, Scarano, Gioacchino, Schanze, Ina, Selicorni, Angelo, Silengo, Margherita, Smigiel, Robert, Spaccini, Luigina, Sorge, Giovanni, Szczaluba, Krzysztof, Tarani, Luigi, Tone, Luis Gonzaga, Toutain, Annick, Trimouille, Aurelien, Valera, Elvis Terci, Vergano, Samantha Schrier, Zanotta, Nicoletta, Zenker, Martin, Conidi, Andrea, Zollino, Marcella, Rauch, Anita, Zweier, Christiane, Garavelli, Livia

المساهمون: Ivanovski, Ivan, Djuric, Olivera, Caraffi, Stefano Giuseppe, Santodirocco, Daniela, Pollazzon, Marzia, Rosato, Simonetta, Cordelli, Duccio Maria, Abdalla, Ebtesam, Accorsi, Patrizia, Adam, Margaret P, Ajmone, Paola Francesca, Badura-Stronka, Magdalena, Baldo, Chiara, Baldi, Maddalena, Bayat, Allan, Bigoni, Stefania, Bonvicini, Federico, Breckpot, Jeroen, Callewaert, Bert, Cocchi, Guido, Cuturilo, Goran, De Brasi, Daniele, Devriendt, Koenraad, Dinulos, Mary Beth, Hjortshøj, Tina Duelund, Epifanio, Roberta, Faravelli, Francesca, Fiumara, Agata, Formisano, Debora, Giordano, Lucio, Grasso, Marina, Grønborg, Sabine, Iodice, Alessandro, Iughetti, Lorenzo, Kuburovic, Vladimir, Kutkowska-Kazmierczak, Anna, Lacombe, Didier, Lo Rizzo, Caterina, Luchetti, Anna, Malbora, Bari, Mammi, Isabella, Mari, Francesca, Montorsi, Giulia, Moutton, Sebastien, Møller, Rikke S, Muschke, Petra, Nielsen, Jens Erik Klint, Obersztyn, Ewa, Pantaleoni, Chiara, Pellicciari, Alessandro, Pisanti, Maria Antonietta, Prpic, Igor, Poch-Olive, Maria Luisa, Raviglione, Federico, Renieri, Alessandra, Ricci, Emilia, Rivieri, Francesca, Santen, Gijs W, Savasta, Salvatore, Scarano, Gioacchino, Schanze, Ina, Selicorni, Angelo, Silengo, Margherita, Smigiel, Robert, Spaccini, Luigina, Sorge, Giovanni, Szczaluba, Krzysztof, Tarani, Luigi, Tone, Luis Gonzaga, Toutain, Annick, Trimouille, Aurelien, Valera, Elvis Terci, Vergano, Samantha Schrier, Zanotta, Nicoletta, Zenker, Martin, Conidi, Andrea, Zollino, Marcella, Rauch, Anita, Zweier, Christiane, Garavelli, Livia

مصطلحات موضوعية: ZEB2 gene. Mowat-Wilson syndrome, intellectual disability

Relation: info:eu-repo/semantics/altIdentifier/pmid/29300384; info:eu-repo/semantics/altIdentifier/wos/WOS:000445531800009; volume:20; issue:9; firstpage:965; lastpage:975; numberofpages:11; journal:GENETICS IN MEDICINE; http://hdl.handle.net/11380/1170967; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85050603332

الاتاحة: http://hdl.handle.net/11380/1170967
https://doi.org/10.1038/gim.2017.221

المؤلفون: Garavelli, Livia, Ivanovski, Ivan, Caraffi, Stefano Giuseppe, Santodirocco, Daniela, Pollazzon, Marzia, Cordelli, Duccio Maria, Abdalla, Ebtesam, Accorsi, Patrizia, Adam, Margaret P, Baldo, Chiara, Bayat, Allan, Belligni, Elga, Bonvicini, Federico, Breckpot, Jeroen, Callewaert, Bert, Cocchi, Guido, Cuturilo, Goran, Devriendt, Koenraad, Dinulos, Mary Beth, Djuric, Olivera, Epifanio, Roberta, Faravelli, Francesca, Formisano, Debora, Giordano, Lucio, Grasso, Marina, Grønborg, Sabine, Iodice, Alessandro, IUGHETTI, Lorenzo, Lacombe, Didier, Maggi, Massimo, Malbora, Baris, Mammi, Isabella, Moutton, Sebastien, Møller, Rikke, Muschke, Petra, Napoli, Manuela, Pantaleoni, Chiara, Pascarella, Rosario, Pellicciari, Alessandro, Poch Olive, Maria Luisa, Raviglione, Federico, Rivieri, Francesca, Russo, Carmela, Savasta, Salvatore, Scarano, Gioacchino, Selicorni, Angelo, Silengo, Margherita, Sorge, Giovanni, Tarani, Luigi, Tone, Luis Gonzaga, Toutain, Annick, Trimouille, Aurelien, Valera, Elvis Terci, Vergano, Samantha Schrier, Zanotta, Nicoletta, Zollino, Marcella, Dobyns, William B, Paciorkowski, Alex R.

المساهمون: Garavelli, Livia, Ivanovski, Ivan, Caraffi, Stefano Giuseppe, Santodirocco, Daniela, Pollazzon, Marzia, Cordelli, Duccio Maria, Abdalla, Ebtesam, Accorsi, Patrizia, Adam, Margaret P, Baldo, Chiara, Bayat, Allan, Belligni, Elga, Bonvicini, Federico, Breckpot, Jeroen, Callewaert, Bert, Cocchi, Guido, Cuturilo, Goran, Devriendt, Koenraad, Dinulos, Mary Beth, Djuric, Olivera, Epifanio, Roberta, Faravelli, Francesca, Formisano, Debora, Giordano, Lucio, Grasso, Marina, Grønborg, Sabine, Iodice, Alessandro, Iughetti, Lorenzo, Lacombe, Didier, Maggi, Massimo, Malbora, Bari, Mammi, Isabella, Moutton, Sebastien, Møller, Rikke, Muschke, Petra, Napoli, Manuela, Pantaleoni, Chiara, Pascarella, Rosario, Pellicciari, Alessandro, Poch Olive, Maria Luisa, Raviglione, Federico, Rivieri, Francesca, Russo, Carmela, Savasta, Salvatore, Scarano, Gioacchino, Selicorni, Angelo, Silengo, Margherita, Sorge, Giovanni, Tarani, Luigi, Tone, Luis Gonzaga, Toutain, Annick, Trimouille, Aurelien, Valera, Elvis Terci, Vergano, Samantha Schrier, Zanotta, Nicoletta, Zollino, Marcella, Dobyns, William B, Paciorkowski, Alex R.

مصطلحات موضوعية: Disability, Congenital malformations, ZEB2 gene

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; http://hdl.handle.net/11380/1150468; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85020205876

الاتاحة: http://hdl.handle.net/11380/1150468
https://doi.org/10.1038/gim.2016.176

المؤلفون: Robert Śmigiel, Tatiana Chilarska, Małgorzata Krajewska-Walasek, Anna Latos-Bielenska, Anna Kutkowska-Kaźmierczak, Marzena Wiśniewska, Krzysztof Szczałuba, Natalia Braun-Walicka, Aleksandra Jakubiak, Anna Jakubiuk-Tomaszuk, Jolanta Wierzba, Magdalena Badura-Stronka, Karolina Pesz, Monika Kugaudo, Ewa Obersztyn, Jennifer Castaneda, Katarzyna Wołyńska, Monika Bielecka, Jacek Pilch

المصدر: Journal of Applied Genetics

مصطلحات موضوعية: 0301 basic medicine, Congenital anomalies, Pediatrics, medicine.medical_specialty, ZEB2 gene, Mowat–Wilson syndrome, Disease, 030105 genetics & heredity, Biology, 03 medical and health sciences, Epilepsy, Human Genetics • Original Paper, 0302 clinical medicine, Neurodevelopmental disorder, Intellectual Disability, Intellectual disability, Genetics, medicine, Humans, Mowat-Wilson syndrome, Hirschsprung Disease, Zinc Finger E-box Binding Homeobox 2, Psychomotor retardation, Facies, General Medicine, medicine.disease, Human genetics, Dysmorphism, Phenotype, Chromosomal region, Microcephaly, Poland, medicine.symptom, 030217 neurology & neurosurgery

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::67fc340aa4534e82efbb5687681df121
https://doi.org/10.1007/s13353-021-00636-1

المؤلفون: Juan D. Cano Sierra, Miguel Ronderos Dumit, Camilo F Mestra

المصدر: Repositorio EdocUR-U. Rosario
Universidad del Rosario
instacron:Universidad del Rosario

مصطلحات موضوعية: 0301 basic medicine, Male, Artery ligation, Microcephaly, Sling (implant), Hirschsprung disease, Patent ductus arteriosus, Intellectual disability, Pulmonary arterial sling, Anamnesis, Gene, Incidental finding, Imaging, Zeb2 gene, Three dimensional imaging, Ductus arteriosus, Zeb2, three-dimensional, Genetic disorder, Tomography, Ductus Arteriosus, Patent, Heart dilatation, education.field_of_study, Incidental Findings, Sequence analysis, General Medicine, Left pulmonary artery, Incidental findings, Intellectual impairment, patent, medicine.anatomical_structure, Gastroesophageal reflux, Echocardiography, Image reconstruction, Vascular surgical procedures, Diagnostic imaging, Pulmonary artery malformation, Abnormalities, Cardiology and Cardiovascular Medicine, Vascular Surgical Procedures, Human, medicine.medical_specialty, Clinical article, Mowat–Wilson syndrome, Population, Pulmonary Artery, Article, Mowat wilson syndrome, 03 medical and health sciences, Imaging, Three-Dimensional, Physical examination, Mowat-wilson syndrome, medicine.artery, Intellectual Disability, Bronchoscopy, Case report, Genetics, medicine, Humans, Intensive care unit, Hirschsprung Disease, education, Time to treatment, X-ray computed tomography, x-ray computed, business.industry, General cardiology, Facies, Infant, Failure to thrive, medicine.disease, Systolic heart murmur, Right pulmonary artery, Surgery, Pulmonary artery, Vascular surgery, 030104 developmental biology, Pediatrics, Perinatology and Child Health, 6th aortic arch, business, Tomography, X-Ray Computed, Complication

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1b0e7deb71eff1ae3ce275479e402136
https://pubmed.ncbi.nlm.nih.gov/29954473

المؤلفون: Jiang, Qian, Zhang, Tao, Wang, Shuo, Xiao, Ping, Zhang, Zhen, Ma, Yinan, Cheng, Wei, Su, Lin, Pan, Hong, Li, Qi, Li, Long

المساهمون: Li, Q, Li, L (reprint author), Capital Inst Pediat, Dept Pediat Surg, 2 Yabao Rd, Beijing 100020, Peoples R China., Capital Inst Pediat, Dept Med Genet, Beijing Municipal Key Lab Child Dev & Nutri, Beijing, Peoples R China., Shanghai Jiao Tong Univ, Kowloon Hosp, Suzhou, Peoples R China., Beijing Mil Reg Gen Hosp, Bayi Childrens Hosp, Dept Nephrol & Rheumatol, Beijing, Peoples R China., Affiliated Childrens Hosp, Capital Inst Pediat, Dept Pathol, Beijing, Peoples R China., Capital Inst Pediat, Dept Pediat Surg, 2 Yabao Rd, Beijing 100020, Peoples R China., Peking Univ, Hosp 1, Dept Cent Lab, Beijing 100871, Peoples R China., Beijing United Family Hosp, Dept Surg, Beijing, Peoples R China., Monash Univ, Fac Med Nursing & Hlth Sci, Dept Paediat & Surg, Clayton, Vic 3800, Australia., Anhui Med Univ, Clin Coll PLA Affiliated, Reproduct Med Ctr, Hefei, Peoples R China.

المصدر: SCI

مصطلحات موضوعية: Mowat-Wilson syndrome, targeted exome sequencing, ZEB2 gene, nonsense mutation, Chinese, SMAD-INTERACTING PROTEIN-1, SHORT READ ALIGNMENT, HIRSCHSPRUNG-DISEASE, SEQUENCING DATA, MENTAL-RETARDATION, MUTATIONS, SIBLINGS, ZFHX1B, GENE, ZEB2

Relation: INTERNATIONAL JOURNAL OF CLINICAL AND EXPERIMENTAL PATHOLOGY.2016,9,(2),1195-+.; 1399054; http://hdl.handle.net/20.500.11897/438903; WOS:000371809200075

الاتاحة: https://hdl.handle.net/20.500.11897/438903

المؤلفون: Cordelli DM, Garavelli L, Savasta S, Guerra A, Pellicciari A, Giordano L, Bonetti S, Cecconi I, Wischmeijer A, 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, Cerruti Mainardi P, Boni A, Faravelli F, Grasso M, Bianchi P, Zollino M, SERI, MARCO, MAZZANTI, LAURA, FRANZONI, EMILIO

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: Mowat-Wilson syndrome, ZEB2 gene, Epilepsy

وصف الملف: STAMPA

Relation: 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; journal:AMERICAN JOURNAL OF MEDICAL GENETICS. PART A; http://hdl.handle.net/11585/133281; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84872913059

الاتاحة: http://hdl.handle.net/11585/133281
https://doi.org/10.1002/ajmg.a.35717

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: Garavelli L., Zollino M., Cerruti Mainardi P., Gurrieri F., Rivieri F., Soli F., Verri R., Albertini E., Favaron E., Zignani M., Orteschi D., Bianchi P., Faravelli F., Forzano F., Wischmeijer A., Pompilii E., Gnoli M., De Brasi D., Sperandeo M. P., Mari F., Uliana V., Mostardini R., Cecconi M., Grasso M., Sassi S., Sebastio G., Renieri A., Silengo M., Bernasconi S., Wakamatsu N., Neri G., SERI, MARCO, TURCHETTI, DANIELA, COCCHI, GUIDO, MAZZANTI, LAURA, BERGAMASCHI, ROSALBA

المساهمون: Garavelli L., Zollino M., Cerruti Mainardi P., Gurrieri F., Rivieri F., Soli F., Verri R., Albertini E., Favaron E., Zignani M., Orteschi D., Bianchi P., Faravelli F., Forzano F., Seri M., Wischmeijer A., Turchetti D., Pompilii E., Gnoli M., Cocchi G., Mazzanti L., Bergamaschi R., De Brasi D., Sperandeo M.P., Mari F., Uliana V., Mostardini R., Cecconi M., Grasso M., Sassi S., Sebastio G., Renieri A., Silengo M., Bernasconi S., Wakamatsu N., Neri G.

مصطلحات موضوعية: MOWAT-WILSON SYNDROME, ZEB2 GENE, 2Q21-Q23 MICRODELETIONS

وصف الملف: STAMPA

Relation: info:eu-repo/semantics/altIdentifier/pmid/19215041; info:eu-repo/semantics/altIdentifier/wos/WOS:000264142300021; volume:149A; issue:3; firstpage:417; lastpage:426; numberofpages:10; journal:AMERICAN JOURNAL OF MEDICAL GENETICS. PART A; http://hdl.handle.net/11585/72201; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-61749091117; http://www.ncbi.nlm.nih.gov/pubmed/?term=Mowat-Wilson+syndrome%3A+Facial+phenotype+changing+with+age%3A+Study+of+19+Italian+patients+and+review+of+the+literature

الاتاحة: http://hdl.handle.net/11585/72201
https://doi.org/10.1002/ajmg.a.32693
http://www.ncbi.nlm.nih.gov/pubmed/?term=Mowat-Wilson+syndrome%3A+Facial+phenotype+changing+with+age%3A+Study+of+19+Italian+patients+and+review+of+the+literature

المؤلفون: Fiorella Gurrieri, Francesca Rivieri, D. De Brasi, Daniela Turchetti, Vera Uliana, R. Bergamaschi, Marco Seri, Livia Garavelli, Silvia Sassi, Giovanni Neri, S. Bernasconi, Eva Pompilii, M. Zignani, Francesca Faravelli, Rosa Mostardini, Alessandra Renieri, N. Wakamatsu, P. Cerruti Mainardi, Paolo Emilio Bianchi, Maurizia Grasso, Maria Pia Sperandeo, Margherita Silengo, Francesca Mari, Anita Wischmeijer, Maria Gnoli, F. Forzano, Daniela Orteschi, Gianfranco Sebastio, Guido Cocchi, F. Soli, Marcella Zollino, E. Favaron, R. Verri, Massimiliano Cecconi, Enrico Albertini, Laura Mazzanti

المساهمون: Garavelli L., Zollino M., Cerruti Mainardi P., Gurrieri F., Rivieri F., Soli F., Verri R., Albertini E., Favaron E., Zignani M., Orteschi D., Bianchi P., Faravelli F., Forzano F., Seri M., Wischmeijer A., Turchetti D., Pompilii E., Gnoli M., Cocchi G., Mazzanti L., Bergamaschi R., De Brasi D., Sperandeo M.P., Mari F., Uliana V., Mostardini R., Cecconi M., Grasso M., Sassi S., Sebastio G., Renieri A., Silengo M., Bernasconi S., Wakamatsu N., Neri G.

مصطلحات موضوعية: Male, Pediatrics, Aging, Chromosomes, Artificial, Bacterial, Indoles, Hirschsprung disease, facial phenotype, Disease, medicine.disease_cause, Polymerase Chain Reaction, Craniofacial Abnormalities, Epilepsy, ZEB2 GENE, Mowat-Wilson syndrome, Young adult, Agenesis of the corpus callosum, Child, Genetics (clinical), In Situ Hybridization, Fluorescence, Oligonucleotide Array Sequence Analysis, ZEB2, Mutation, Nucleic Acid Hybridization, Dextrans, Syndrome, 2Q21-Q23 MICRODELETIONS, Phenotype, Italy, Child, Preschool, Female, medicine.medical_specialty, Heterozygote, Adolescent, Mowat–Wilson syndrome, Young Adult, Intellectual Disability, Genetics, medicine, Humans, Abnormalities, Multiple, Fluorescent Dyes, Zinc Finger E-box Binding Homeobox 2, Homeodomain Proteins, business.industry, Infant, medicine.disease, Repressor Proteins, Hypospadias, business

وصف الملف: STAMPA

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::16874b268be4369ece48afc3f6f38358
http://hdl.handle.net/2318/58879

المؤلفون: Kılıç, Esra

المساهمون: Boduroğlu, Koray

مصطلحات موضوعية: ZEB2 gene

وصف الملف: application/pdf

Relation: http://hdl.handle.net/11655/840

الاتاحة: http://hdl.handle.net/11655/840