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1دورية أكاديمية
المؤلفون: S. Gangemi, A. Saija, A. Tomaino, F. Cimino, R. A. Merendino, P. L. Minciullo, S. Briuglia, M. V. Merlino, B. Dallapiccola, B. Ferlazzo, D. C. Salpietro
المصدر: Mediators of Inflammation, Vol 12, Iss 4, Pp 247-249 (2003)
مصطلحات موضوعية: Chronic mucocutaneous candidiasis, Familiar chronic nail candidiasis, Protein carbonyl groups, Oxidative stress., Pathology, RB1-214
وصف الملف: electronic resource
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2دورية أكاديمية
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المؤلفون: Antonio Novelli, Fabrizio Drago, Gessica Vasco, Paola Francalanci, B Dallapiccola, Rachele Adorisio, Anwar Baban, Marianna Cicenia, Antonio Amodeo, Lorena Travaglini, Enrico Bertini, Federica Calì
المصدر: Minerva pediatrics.
مصطلحات موضوعية: Pediatrics, medicine.medical_specialty, Ataxia, business.industry, Triplet repeat, Hypertrophic cardiomyopathy, Cardiomyopathy, medicine.disease, Peripheral blood, Heart failure, Pediatrics, Perinatology and Child Health, Medicine, Toddler, medicine.symptom, business, Early onset
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::594de317adbb035edae830a363303401Test
https://pubmed.ncbi.nlm.nih.gov/33820410Test -
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المؤلفون: Luigi Boccuto, Tiziana Nardo, Antonio Novelli, Maria Cristina Digilio, Donata Orioli, Giovanna Stefania Colafati, Elena Botta, Sabrina Rossi, B Dallapiccola, Antonella Cacchione, Angela Mastronuzzi, Emanuele Agolini, Iside Alessi, Giovanna Zambruno, Emanuele Bellacchio, Mariachiara Lodi, Martina Rinelli, Viola Alesi, Andrea Carai
مصطلحات موضوعية: Genetics, ERCC2, Related disorder, Biology, Gene, Spectrum (topology)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::7156b03b323c67b3febbeb7cd26be0eeTest
https://doi.org/10.1111/cge.13957/v2/response1Test -
5دورية أكاديمية
المؤلفون: L. Bernardini, S. Gimelli, M. Carella, A. Baban, G. Frontino, G. Barbano, M. T. Divizia, L. Fedele, A. Novelli, F. Bena, F. Lalatta, B. Dallapiccola, C.C.G. Gervasini, M.R. Miozzo
المساهمون: L. Bernardini, S. Gimelli, C.C.G. Gervasini, M. Carella, A. Baban, G. Frontino, G. Barbano, M.T. Divizia, L. Fedele, A. Novelli, F. Bena, F. Lalatta, M.R. Miozzo, B. Dallapiccola
مصطلحات موضوعية: Settore MED/03 - Genetica Medica
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/19889212; info:eu-repo/semantics/altIdentifier/wos/WOS:000272056200001; European conference of human genetics; volume:4; issue:1; firstpage:1; lastpage:6; numberofpages:6; journal:ORPHANET JOURNAL OF RARE DISEASES; http://hdl.handle.net/2434/72138Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-72849131881
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6دورية أكاديمية
المؤلفون: I. Bottillo, A. De Luca, A. Schirinzi, V. Guida, I. Torrente, S. Calmieri, A. Pizzuti, B. Dallapiccola, C. Gervasini, L. Larizza
المساهمون: I. Bottillo, A. De Luca, A. Schirinzi, V. Guida, I. Torrente, S. Calmieri, C. Gervasini, L. Larizza, A. Pizzuti, B. Dallapiccola
مصطلحات موضوعية: Settore MED/03 - Genetica Medica
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/17295913; info:eu-repo/semantics/altIdentifier/wos/WOS:000244329300001; volume:12; issue:8; firstpage:4; journal:BMC MEDICAL GENETICS; http://hdl.handle.net/2434/28690Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-33847314717
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المؤلفون: Claudia Ornstein, Anne S. Bassett, Matthew S. Hestand, Bruno Marino, Kelly Schoch, Tony J. Simon, Therese van Amelsvoort, Doron Gothelf, Carrie E. Bearden, Elemi J. Breetvelt, Michael P. Epstein, Tiffany Busa, Robert J. Shprintzen, David Cutler, Tao Wang, Leila Kushan-Wells, Donna M. McDonald-McGinn, Raquel E. Gur, Hayley Moss, Esther D. A. van Duin, B Dallapiccola, Joris Vermeesch, Clodagh M. Murphy, Yingjie Zhao, Rens Evers, María Angeles de la Fuente Sanches, Ann Swillen, H. Richard Johnston, Maria Pontillo, Steve Warren, Guido Lattanzi, Michael E. Zwick, Jacob A. S. Vorstman, Jeroen Breckpot, Oanh Tran, Stylianos E. Antonarakis, Stefano Vicari, Andrea Jin, Alexander Diacou, Miri Carmel, Christian R. Marshall, Abraham Weizman, Bernice E. Morrow, Fadi I Musfee, Wendy R. Kates, Michael John Owen, Fabio Di Fabio, Marco Armando, Erik Boot, Claudia Vingerhoets, Elizabeth Goldmuntz, Massimo Biondi, Kieran C. Murphy, Nancy Butcher, Declan G. Murphy, Candice K. Silversides, Isabelle Cleynen, T. Blaine Crowley, Vandana Shashi, Linda E. Campbell, Elaine H. Zackai, Ronnie Weinberger, Sixto García-Miñaur, Marianne Bernadette van den Bree, Fernando García Algas, Damian Heine-Suñer, Tracy Heung, Daniel E. McGinn, Maude Schneider, Stephan Eliez, Marta Unolt, Stephen R. Hooper, Kathryn McCabe, A. J. Agopian, Tingwei Guo, Zhengdong Zhang, Rosemarie Fritsch, Luis Fernández, Beverly S. Emanuel, Elfi Vergaelen, Alejandra Laorden-Nieto, Flora Tassone, Gabriela M. Repetto, Laura E. Mitchell, Antonino Buzzanca, Elena Michaelovsky, M. Cristina Digilio, Nicole Philip
المساهمون: RS: MHeNs - R2 - Mental Health, Psychiatrie & Neuropsychologie, MUMC+: MA Med Staf Spec Psychiatrie (9), Antonarakis, Stylianos
المصدر: American Journal of Human Genetics, 106(1), 26-40. Cell Press
Am J Hum Genet
American Journal of Human Genetics, Vol. 106, No 1 (2020) pp. 26-40
American journal of human genetics, vol 106, iss 1مصطلحات موضوعية: Male, Heart disease, PREDICTION, Chromosomes, Human, Pair 22, Haploinsufficiency, Cardiovascular, Medical and Health Sciences, Genetic modifier, Proto-Oncogene Mas, Linkage Disequilibrium, Cohort Studies, Congenital, ddc:616.89, Segmental Duplications, Genomic, DiGeorge syndrome, 2.1 Biological and endogenous factors, Chromosome 22q11.2 deletion syndrome, Copy-number variation, Aetiology, Genetics (clinical), Heart Defects, Pediatric, Genetics & Heredity, Genetics, cardio-facial syndrome, II DEFICIENCY, 0303 health sciences, variants, MOLECULAR DEFINITION, 030305 genetics & heredity, TBX1, Single Nucleotide, Biological Sciences, Segmental Duplications, Complex trait, Heart Disease, Phenotype, Female, tbx1 haploinsufficiency, Chromosome Deletion, Human, Heart Defects, Congenital, prevalence, Biology, Polymorphism, Single Nucleotide, Chromosomes, Article, 03 medical and health sciences, Complete sequence, Clinical Research, LOW-COPY REPEATS, medicine, Humans, Polymorphism, Allele, Conotruncal heart defects, International 22q11.2 Brain and Behavior Consortium, 030304 developmental biology, Sequence (medicine), Congenital heart disease, Copy number variation, Human Genome, association, CRKL, medicine.disease, chromosome 22q11.2 deletion syndrome, complex trait, congenital heart disease, conotruncal heart defects, copy number variation, genetic association, genetic modifier, haploinsufficiency, Case-Control Studies, Genome-Wide Association Study, Genomic, Genetic association, Pair 22
وصف الملف: application/pdf; Print-Electronic
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8700304c185800fa1b2e56de201d2874Test
https://cris.maastrichtuniversity.nl/en/publications/fcebc151-7a92-4dbe-8f36-bd15cb7462bbTest -
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المؤلفون: A Terracciano, B Dallapiccola, Rossella Capolino, M.L. Dentici, Antonio Novelli, Emanuele Bellacchio, M. C. Digilio
المصدر: Clinical Genetics. 93:1223-1228
مصطلحات موضوعية: Male, 0301 basic medicine, Heterozygote, Microcephaly, Hamartoma, Michelin tire baby syndrome, Biology, medicine.disease_cause, Cutis Laxa, 03 medical and health sciences, Facial dysmorphism, symbols.namesake, Imaging, Three-Dimensional, 0302 clinical medicine, Tubulin, Genetics, medicine, Humans, Computer Simulation, Family, Child, Gene, Genetics (clinical), Skin, Cortical atrophy, Heterozygous mutation, Sanger sequencing, Mutation, Middle Aged, medicine.disease, 030104 developmental biology, Skin Abnormalities, symbols, 030217 neurology & neurosurgery
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1028e7be525f4487ad7af43333c03605Test
https://doi.org/10.1111/cge.13232Test -
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المؤلفون: Isabella Torrente, A. De Luca, N Laforgia, B Dallapiccola, Katia Margiotti, Bruno Marino, Federica Consoli, Luigi Memo, Simone Pizzi, Victor L. Ruiz-Perez, Marco Tartaglia, M. C. Digilio, Alessandro Bruselles, Valentina Guida, Alessandro Ferraris, M.L. Dentici, Marcello Niceta
المصدر: Clinical Genetics. 93:632-639
مصطلحات موضوعية: 0301 basic medicine, Genetics, Ectodermal dysplasia, Polydactyly, 030105 genetics & heredity, Gene mutation, Biology, medicine.disease, Compound heterozygosity, Loss of heterozygosity, 03 medical and health sciences, 030104 developmental biology, medicine, Missense mutation, Genetics (clinical), Ellis–van Creveld syndrome, Exome sequencing
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::a469408881524a62d553cce3fd521b63Test
https://doi.org/10.1111/cge.13128Test -
10دورية أكاديمية
المؤلفون: Paola Cerruti-mainardi, Giacomo Venturi, Marianna Spunton, Elena Favaron, Michela Zignani, Ro Provera, Bruno Dallapiccola, P. Cerruti-mainardi, M. Spunton, E. Favaron, M. Zignani, G. Venturi, S. Provera, B. Dallapiccola
المساهمون: The Pennsylvania State University CiteSeerX Archives
المصدر: ftp://ftp.ncbi.nlm.nih.gov/pub/pmc/7b/d2/Eur_J_Pediatr_2011_Nov_13_170(11)_1385-1390.tar.gz
وصف الملف: application/zip