المؤلفون: GANDIN, ILARIA, FALETRA, FLAVIO, PECILE, VANNA, BELCARO, CHIARA, VOZZI, Diego, D'ADAMO, ADAMO PIO, Faletra F, Carella M, Ferrero GB, Biamino E, Palumbo P, Palumbo O, Bosco P, Romano C

المساهمون: Gandin, Ilaria, Faletra, Flavio, Faletra, F, Carella, M, Pecile, Vanna, Ferrero, Gb, Biamino, E, Palumbo, P, Palumbo, O, Bosco, P, Romano, C, Belcaro, Chiara, Vozzi, Diego, D'Adamo, ADAMO PIO

مصطلحات موضوعية: Inbreeding Depression, intellectual disability

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/25232855; info:eu-repo/semantics/altIdentifier/wos/WOS:000354096900011; firstpage:""; lastpage:""; journal:GENETICS IN MEDICINE; http://hdl.handle.net/11368/2807735Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84928888838

الإتاحة: https://doi.org/10.1038/gim.2014.118Test
http://hdl.handle.net/11368/2807735Test

المؤلفون: Matarazzo, Lorenza, Martellossi, Stefano, Chiaffoni, Gian Paolo, Faletra, Flavio, Zanon, Davide, Ventura, Alessandro, MAGGIORE, GIUSEPPE

المساهمون: Matarazzo, Lorenza, Martellossi, Stefano, Chiaffoni, Gian Paolo, Faletra, Flavio, Zanon, Davide, Maggiore, Giuseppe, Ventura, Alessandro

وصف الملف: STAMPA

العلاقة: volume:46; firstpage:105; lastpage:106; numberofpages:2; journal:DIGESTIVE AND LIVER DISEASE; http://hdl.handle.net/11568/776718Test

الإتاحة: http://hdl.handle.net/11568/776718Test

المؤلفون: Morgan, Anna, Dipresa, Savina, Turolla, Licia, La Bianca, Martina, Faletra, Flavio, Girotto, Giorgia

المصدر: Human Mutation; Feb2021, Vol. 42 Issue 2, p213-215, 3p

المؤلفون: Rocca, Maria Santa, Faletra, Flavio, Devescovi, Raffaella, Gasparini, Paolo, Pecile, Vanna

المساهمون: Rocca, Maria Santa, Faletra, Flavio, Devescovi, Raffaella, Gasparini, Paolo, Pecile, Vanna

مصطلحات موضوعية: Cryptorchidism, Deletion 2p23, DTNB, SNP array, Child, Preschool, Comparative Genomic Hybridization, Developmental Disabilitie, Facie, Human, Infant, Male, Muscle Hypotonia, Phenotype, Polymorphism, Single Nucleotide, Chromosome Deletion, Chromosomes, Pair 2, Genetic, Genetics (clinical)

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/23142270; volume:56; issue:1; firstpage:62; lastpage:65; numberofpages:4; journal:EUROPEAN JOURNAL OF MEDICAL GENETICS; http://hdl.handle.net/11368/2935128Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84871701218

الإتاحة: https://doi.org/10.1016/j.ejmg.2012.10.008Test
http://hdl.handle.net/11368/2935128Test

المؤلفون: Bortot, Barbara, Cosentini, Dora, Faletra, Flavio, Biffi, Stefania, Carrozzi, Marco, Severini, Giovanni Maria, DE MARTINO, ELEONORA

المساهمون: Bortot, Barbara, Cosentini, Dora, Faletra, Flavio, Biffi, Stefania, DE MARTINO, Eleonora, Carrozzi, Marco, Severini, Giovanni Maria

مصطلحات موضوعية: ALG6, Mutation, N-glycosylation, Phenotype-genotype correlation, PMM2-CDG, Aged, Child, Preschool, Congenital Disorders of Glycosylation, DNA Mutational Analysi, Female, Genetic Association Studie, Genotype, Human, Middle Aged, Pedigree, Phenotype, Phosphotransferases (Phosphomutases), Genetics

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/23988505; info:eu-repo/semantics/altIdentifier/wos/WOS:000326846800050; volume:531; issue:2; firstpage:506; lastpage:509; numberofpages:4; journal:GENE; http://hdl.handle.net/11368/2893716Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84885435588

الإتاحة: https://doi.org/10.1016/j.gene.2013.07.083Test
http://hdl.handle.net/11368/2893716Test

المؤلفون: d’Apolito, Maria, Pisanelli, Daniela, Faletra, Flavio, Giardino, Ida, Gigante, Maddalena, Pettoello-Mantovani, Massimo, Goulet, Olivier, Gasparini, Paolo, Campanozzi, Angelo

المصدر: World Journal of Pediatrics ; volume 12, issue 2, page 219-224 ; ISSN 1708-8569 1867-0687

مصطلحات موضوعية: Pediatrics, Perinatology and Child Health

الإتاحة: https://doi.org/10.1007/s12519-015-0070-yTest

المؤلفون: Rocca, Maria Santa, Fabretto, Antonella, Faletra, Flavio, Carlet, Ombretta, Skabar, Aldo, Gasparini, Paolo, Pecile, Vanna

المساهمون: Rocca, Maria Santa, Fabretto, Antonella, Faletra, Flavio, Carlet, Ombretta, Skabar, Aldo, Gasparini, Paolo, Pecile, Vanna

مصطلحات موضوعية: Microdeletion 2p11.2-p12, REEP1, SNP array analysi, SPG31, Genetics

العلاقة: info:eu-repo/semantics/altIdentifier/wos/WOS:000299248000038; volume:492; issue:1; firstpage:315; lastpage:318; numberofpages:4; journal:GENE; http://hdl.handle.net/11368/2935134Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84155186334

الإتاحة: https://doi.org/10.1016/j.gene.2011.10.035Test
http://hdl.handle.net/11368/2935134Test

المؤلفون: Faletra, Flavio, Berti, I., Tommasini, A., Pecile, V., Cleva, L., Alberini, E., Bruno, I., Gasparini, P.

المساهمون: Faletra, Flavio, Berti, I., Tommasini, A., Pecile, V., Cleva, L., Alberini, E., Bruno, I., Gasparini, P.

مصطلحات موضوعية: 13q, Deletion, Mosaicism, Phylloid hypomelanosi, SNP array analysi, Chromosomes, Human, Pair 13, Hypopigmentation, Male, Oligonucleotide Array Sequence Analysi, Polymorphism, Single Nucleotide

الوقت: 2708

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/23095783; info:eu-repo/semantics/altIdentifier/wos/WOS:000315976300002; volume:225; issue:4; firstpage:294; lastpage:297; numberofpages:4; journal:DERMATOLOGY; http://hdl.handle.net/11368/2935170Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84875217877

الإتاحة: https://doi.org/10.1159/000342884Test
http://hdl.handle.net/11368/2935170Test

المؤلفون: Greg Gibson, Ruth McQuillan, Niina Eklund, Maris Kuningas, Brian P. McEvoy, Tõnu Esko, Tanguy Corre, Gail Davies, Marika Kaakinen, Leo Pekka Lyytikäinen, Kati Kristiansson, Aki S. Havulinna, Martin Gögele, Veronique Vitart, Albert Tenesa, Yurii Aulchenko, Caroline Hayward, Åsa Johansson, Mladen Boban, Sheila Ulivi, Vesna Boraska, Wilmar Igl, Sarah H. Wild, Lina Zgaga, Najaf Amin, Evropi Theodoratou, Ozren Polašek, Lorna M. Lopez, Cinzia Sala, Jari Lahti, Tiina Laatikainen, Inga Prokopenko, Mart Kals, Jorma Viikari, Jian Yang, Anneli Pouta, Karol Estrada, Albert Hofman, Nelson Freimer, Nicholas G. Martin, Mika Kähönen, Lili Milani, Markku Heliövaara, Erkki Vartiainen, Katri Räikkönen, Corrado Masciullo, John M. Starr, Andrew A. Hicks, Laura Esposito, Ivana Kolčić, Susan M. Farrington, Ben Oostra, Tatijana Zemunik, Harry Campbell, Mirna Kirin, Marina Pehlic, David Porteous, Giorgio Pistis, Elisabeth Widén, Veikko Salomaa, Seppo Koskinen, Krista Fischer, Terho Lehtimäki, Andrew Heath, Mark I. McCarthy, Fernando Rivadeneira, Grant W. Montgomery, Henning Tiemeier, Anna Liisa Hartikainen, Pamela A. F. Madden, Nicholas D. Hastie, Ulf Gyllensten, Alan F. Wright, Cornelia M. van Duijn, Malcolm Dunlop, Igor Rudan, Peter P. Pramstaller, Ian J. Deary, Daniela Toniolo, Johan G. Eriksson, Antti Jula, Olli T. Raitakari, Andres Metspalu, Markus Perola, Marjo Riitta Järvelin, André Uitterlinden, Peter M. Visscher, James F. Wilson, PIRASTU, Nicola, ROBINO, ANTONIETTA, GIROTTO, GIORGIA, FALETRA, FLAVIO, D'ADAMO, ADAMO PIO, GASPARINI, PAOLO

المساهمون: Greg, Gibson, Ruth, Mcquillan, Niina, Eklund, Pirastu, Nicola, Maris, Kuninga, Brian P., Mcevoy, Tõnu, Esko, Tanguy, Corre, Gail, Davie, Marika, Kaakinen, Leo Pekka, Lyytikäinen, Kati, Kristiansson, Aki S., Havulinna, Martin, Gögele, Veronique, Vitart, Albert, Tenesa, Yurii, Aulchenko, Caroline, Hayward, Åsa, Johansson, Mladen, Boban, Sheila, Ulivi, Robino, Antonietta, Vesna, Boraska, Wilmar, Igl, Sarah H., Wild, Lina, Zgaga, Najaf, Amin, Evropi, Theodoratou, Ozren, Polašek, Girotto, Giorgia, Lorna M., Lopez, Cinzia, Sala, Jari, Lahti, Tiina, Laatikainen, Inga, Prokopenko, Mart, Kal, Jorma, Viikari, Jian, Yang, Anneli, Pouta, Karol, Estrada, Albert, Hofman, Nelson, Freimer, Nicholas G., Martin, Mika, Kähönen, Lili, Milani, Markku, Heliövaara, Erkki, Vartiainen, Katri, Räikkönen, Corrado, Masciullo, John M., Starr, Andrew A., Hick, Laura, Esposito, Ivana, Kolčić, Susan M., Farrington, Ben, Oostra, Tatijana, Zemunik, Harry, Campbell, Mirna, Kirin, Marina, Pehlic, Faletra, Flavio, David, Porteou, Giorgio, Pisti, Elisabeth, Widén, Veikko, Salomaa, Seppo, Koskinen, Krista, Fischer, Terho, Lehtimäki, Andrew, Heath, Mark I., Mccarthy, Fernando, Rivadeneira, Grant W., Montgomery, Henning, Tiemeier, Anna Liisa, Hartikainen, Pamela A. F., Madden, D'Adamo, ADAMO PIO, Nicholas D., Hastie, Ulf, Gyllensten, Alan F., Wright, Cornelia M., van Duijn, Malcolm, Dunlop, Igor, Rudan, Gasparini, Paolo, Peter P., Pramstaller, Ian J., Deary, Daniela, Toniolo, Johan G., Eriksson, Antti, Jula, Olli T., Raitakari, Andres, Metspalu, Markus, Perola, Marjo Riitta, Järvelin, André, Uitterlinden, Peter M., Visscher, James F., Wilson

مصطلحات موضوعية: Inbreeding Depression, Human Height

العلاقة: info:eu-repo/semantics/altIdentifier/wos/WOS:000306840400001; volume:8; firstpage:e1002655; lastpage:e1002655; journal:PLOS GENETICS; http://hdl.handle.net/11368/2577620Test; http://hdl.handle.net/11368/2571220Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84864581394

الإتاحة: https://doi.org/10.1371/journal.pgen.1002655Test
http://hdl.handle.net/11368/2577620Test
http://hdl.handle.net/11368/2571220Test

المؤلفون: Minen, Federico, Cont, Gabriele, Cunto, Angela De, Martelossi, Stefano, Ventura, Alessandro, Faletra, Flavio, Gasparini, Paolo, Cassandrini, Denise, MAGGIORE, Giuseppe

المساهمون: Minen, Federico, Cont, Gabriele, Cunto, Angela De, Martelossi, Stefano, Ventura, Alessandro, Maggiore, Giuseppe, Faletra, Flavio, Gasparini, Paolo, Cassandrini, Denise

مصطلحات موضوعية: Glicogen storage disease

وصف الملف: STAMPA

العلاقة: info:eu-repo/semantics/altIdentifier/wos/WOS:000298550800026; volume:54; issue:1; firstpage:122; lastpage:124; numberofpages:3; journal:JOURNAL OF PEDIATRIC GASTROENTEROLOGY AND NUTRITION; http://hdl.handle.net/11392/2370542Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84855352459

الإتاحة: https://doi.org/10.1097/MPG.0b013e318228d806Test
http://hdl.handle.net/11392/2370542Test