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Glycoconjugate journal, 2019-12, Vol.36 (6), p.461-472
2019
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Clinical genetics, 2020-04, Vol.97 (4), p.649-654
2020
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European journal of human genetics : EJHG, 2014-01, Vol.22 (8), p.1026-1033
- Barisic, Ingeborg
- Odak, Ljubica
- Loane, Maria
- Garne, Ester
- Wellesley, Diana
- Calzolari, Elisa
- Dolk, Helen
- Addor, Marie-Claude
- Arriola, Larraitz
- Bergman, Jorieke
- Bianca, Sebastiano
- Doray, Berenice
- Khoshnood, Babak
- Klungsoyr, Kari
- McDonnell, Bob
- Pierini, Anna
- Rankin, Judith
- Rissmann, Anke
- Rounding, Catherine
- Queisser-Luft, Annette
- Scarano, Gioacchino
- Tucker, David
2014
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Clinical genetics, 2021-09, Vol.100 (3), p.268-279
- Guida, Valentina
- Sparascio, Francesca Piceci
- Bernardini, Laura
- Pancheri, Francesco
- Melis, Daniela
- Cocciadiferro, Dario
- Pagnoni, Mario
- Puzzo, Marianna
- Goldoni, Marina
- Barone, Chiara
- Hozhabri, Hossein
- Putotto, Carolina
- Giuffrida, Maria Grazia
- Briuglia, Silvana
- Palumbo, Orazio
- Bianca, Sebastiano
- Stanzial, Franco
- Benedicenti, Francesco
- Kariminejad, Ariana
- Forzano, Francesca
- Baghernajad Salehi, Leila
- Mattina, Teresa
- Brancati, Francesco
- Castori, Marco
- Carella, Massimo
- Fadda, Maria Teresa
- Iannetti, Giorgio
- Dallapiccola, Bruno
- Digilio, Maria Cristina
- Marino, Bruno
- Tartaglia, Marco
- De Luca, Alessandro
2021
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International journal of molecular sciences, 2021-01, Vol.22 (3), p.1190
- Guida, Valentina
- Calzari, Luciano
- Fadda, Maria Teresa
- Piceci-Sparascio, Francesca
- Digilio, Maria Cristina
- Bernardini, Laura
- Brancati, Francesco
- Mattina, Teresa
- Melis, Daniela
- Forzano, Francesca
- Briuglia, Silvana
- Mazza, Tommaso
- Bianca, Sebastiano
- Valente, Enza Maria
- Salehi, Leila Bagherjad
- Prontera, Paolo
- Pagnoni, Mario
- Tenconi, Romano
- Dallapiccola, Bruno
- Iannetti, Giorgio
- Corsaro, Luigi
- De Luca, Alessandro
- Gentilini, Davide
2021
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Orphanet journal of rare diseases, 2020-08, Vol.15 (1), p.1-201, Article 201
- Baldelli, Ilaria
- Baccarani, Alessio
- Barone, Chiara
- Bedeschi, Francesca
- Bianca, Sebastiano
- Calabrese, Olga
- Castori, Marco
- Catena, Nunzio
- Corain, Massimo
- Costanzo, Sara
- Barbato, Giacomo De Paoli
- De Stefano, Santa
- Divizia, Maria Teresa
- Feletti, Francesco
- Formica, Matteo
- Lando, Mario
- Lerone, Margherita
- Lorenzetti, Fulvio
- Martinoli, Carlo
- Mellini, Lorenzo
- Nava, Maurizio Bruno
- Porcellini, Giuseppe
- Puliti, Aldamaria
- Romanini, Maria Victoria
- Rondoni, Franco
- Santi, Pierluigi
- Sartini, Silvana
- Senes, Filippo
- Spada, Lucia
- Tarani, Luigi
- Valle, Maura
- Venturino, Cristina
- Zaottini, Federico
- Torre, Michele
- Crimi, Marco
2020
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American journal of medical genetics. Part C, Seminars in medical genetics, 2011-11, Vol.157C (4), p.358-373
- Orioli, Iêda M.
- Amar, Emmanuelle
- Arteaga-Vazquez, Jazmin
- Bakker, Marian K.
- Bianca, Sebastiano
- Botto, Lorenzo D.
- Clementi, Maurizio
- Correa, Adolfo
- Csaky-Szunyogh, Melinda
- Leoncini, Emanuele
- Li, Zhu
- López-Camelo, Jorge S.
- Lowry, R. Brian
- Marengo, Lisa
- Martínez-Frías, María-Luisa
- Mastroiacovo, Pierpaolo
- Morgan, Margery
- Pierini, Anna
- Ritvanen, Annukka
- Scarano, Gioacchino
- Szabova, Elena
- Castilla, Eduardo E.
2011
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Genes, 2022-04, Vol.13 (5), p.780
- Recalcati, Maria Paola
- Catusi, Ilaria
- Garzo, Maria
- Redaelli, Serena
- Massimello, Marta
- Maitz, Silvia Beatrice
- Gentile, Mattia
- Ponzi, Emanuela
- Orsini, Paola
- Zilio, Anna
- Montaldi, Annamaria
- Calò, Annapaola
- Capra, Anna Paola
- Briuglia, Silvana
- La Rosa, Maria Angela
- Grillo, Lucia
- Romano, Corrado
- Bianca, Sebastiano
- Malacarne, Michela
- Busè, Martina
- Piccione, Maria
- Larizza, Lidia
2022
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American journal of medical genetics. Part C, Seminars in medical genetics, 2011-11, Vol.157C (4), p.321-332
- Siffel, Csaba
- Correa, Adolfo
- Amar, Emmanuelle
- Bakker, Marian K.
- Bermejo-Sánchez, Eva
- Bianca, Sebastiano
- Castilla, Eduardo E.
- Clementi, Maurizio
- Cocchi, Guido
- Csáky-Szunyogh, Melinda
- Feldkamp, Marcia L.
- Landau, Danielle
- Leoncini, Emanuele
- Li, Zhu
- Lowry, R. Brian
- Marengo, Lisa K.
- Mastroiacovo, Pierpaolo
- Morgan, Margery
- Mutchinick, Osvaldo M.
- Pierini, Anna
- Rissmann, Anke
- Ritvanen, Annukka
- Scarano, Gioacchino
- Szabova, Elena
- Olney, Richard S.
2011
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The Journal of pediatrics, 2013, Vol.162 (1), p.108-113.e2
- Khoshnood, Babak, MD, PhD
- Loane, Maria, MSc
- Garne, Ester, MD
- Addor, Marie-Claude, MD
- Arriola, Larraitz, MD
- Bakker, Marian, PhD
- Barisic, Ingeborg, MD
- Bianca, Sebastiano, MD
- Boyd, Patricia, MD
- Calzolari, Elisa, MD
- Doray, Berenice, MD
- Draper, Elizabeth, PhD
- Gatt, Miriam, MD
- Haeusler, Martin, MD
- Melve, Kari Klungsoyr, MD
- Latos-Bielenska, Anna, MD
- McDonnell, Bob, MD
- Mullaney, Carmel, MD
- Nelen, Vera, MD
- O'Mahony, Mary, MD
- Pierini, Anna, MD
- Queisser-Luft, Annette, MD
- Randrianaivo, Hanitra, MD
- Rankin, Judith, PhD
- Rissmann, Anke, MD
- Salvador, Joaquin, MD
- Tucker, David, MPH
- Verellen-Dumoulin, Christine, MD
- Wellesley, Diana, MD
- Zymak-Zakutnya, Natalya, MD
- Dolk, Helen, DrPH
2013
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American journal of medical genetics. Part C, Seminars in medical genetics, 2011-11, Vol.157C (4), p.333-343
- Feldkamp, Marcia L.
- Botto, Lorenzo D.
- Amar, Emmanuelle
- Bakker, Marian K.
- Bermejo-Sánchez, Eva
- Bianca, Sebastiano
- Canfield, Mark A.
- Castilla, Eduardo E.
- Clementi, Maurizio
- Csaky-Szunyogh, Melinda
- Leoncini, Emanuele
- Li, Zhu
- Lowry, R. Brian
- Mastroiacovo, Pierpaolo
- Merlob, Paul
- Morgan, Margery
- Mutchinick, Osvaldo M.
- Rissmann, Anke
- Ritvanen, Annukka
- Siffel, Csaba
- Carey, John C.
2011
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The Journal of thoracic and cardiovascular surgery, 2010-05, Vol.139 (5), p.1177-1182
2010
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Fertility and sterility, 2010, Vol.93 (1), p.276-276
2010
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American journal of medical genetics. Part A, 2012-01, Vol.158A (1), p.140-149
2012
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American journal of medical genetics. Part A, 2010-07, Vol.152A (7), p.1670-1680
- Leoncini, Emanuele
- Botto, Lorenzo D.
- Cocchi, Guido
- Annerén, Goran
- Bower, Carol
- Halliday, Jane
- Amar, Emmanuelle
- Bakker, Marian K.
- Bianca, Sebastiano
- Canessa Tapia, Maria Aurora
- Castilla, Eduardo E.
- Csáky-Szunyogh, Melinda
- Dastgiri, Saeed
- Feldkamp, Marcia L.
- Gatt, Miriam
- Hirahara, Fumiki
- Landau, Danielle
- Lowry, R. Brian
- Marengo, Lisa
- McDonnell, Robert
- Mathew, Triphti M.
- Morgan, Margery
- Mutchinick, Osvaldo M.
- Pierini, Anna
- Poetzsch, Simone
- Ritvanen, Annukka
- Scarano, Gioacchino
- Siffel, Csaba
- Sípek, Antonin
- Szabova, Elena
- Tagliabue, Giovanna
- Vollset, Stein Emil
- Wertelecki, Wladimir
- Zhuchenko, Ludmila
- Mastroiacovo, Pierpaolo
2010
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The Lancet (British edition), 2003-07, Vol.362 (9380), p.329-329
2003
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Archives of gynecology and obstetrics, 2011-08, Vol.284 (2), p.509-511
2011
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Congenital anomalies, 2014-08, Vol.54 (3), p.193-194
2014
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Congenital anomalies, 2014-08, Vol.54 (3), p.193
2014
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Genetics and molecular biology, 2014-01, Vol.37 (1 Suppl), p.250-262
- Savastano, Clarice Pagani
- El-Jaick, Kênia Balbi
- Costa-Lima, Marcelo Aguiar
- Abath, Cristina Maria Batista
- Bianca, Sebastiano
- Cavalcanti, Denise Pontes
- Félix, Têmis Maria
- Scarano, Gioacchino
- Llerena, Jr, Juan Clinton
- Vargas, Fernando Regla
- Moreira, Miguel Ângelo Martins
- Seuánez, Hector N
- Castilla, Eduardo Enrique
- Orioli, Iêda Maria
2014
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Circulation (New York, N.Y.), 2011-03, Vol.123 (8), p.841-849
2011
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Fertility and sterility, 2009-05, Vol.91 (5), p.e6-e6
2009
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Environmental health perspectives, 2005-05, Vol.113 (5), p.A296-A296
2005
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Fertility and sterility, 2010-03, Vol.93 (4), p.e21-e21
2010
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Further Evidence of No Association between Spinal Muscular Atrophy and Increased Nuchal Translucency
2013
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