Mutations in a gene encoding an ABC transporter cause pseudoxanthoma elasticum von Boyd, Charles D, Le Saux, Olivier, Urban, Zsolt, Tschuch, Cordula, Csiszar, Katalin, Bacchelli, Barbara, Quaglino, Daniela, Pasquali-Ronchetti, Ivonne, Pope, F. Michael, Richards, Allan, Terry, Sharon, Bercovitch, Lionel, de Paepe, Anne

Volltext

On MRAs and Prewavelets Based on Elliptic Splines von Bacchelli, Barbara, Rossini, Milvia

Volltext

Decomposition and reconstruction of multidimensional signals using polyharmonic pre-wavelets von Bacchelli, Barbara, Bozzini, Mira, Rabut, Christophe, Varas, Maria-Leonor

Volltext

Acquired Pseudoxanthoma elasticum‐like syndrome in β‐thalassaemia patients von Hamlin, Naomi, Beck, Konstanze, Bacchelli, Barbara, Cianciulli, Paolo, Pasquali‐Ronchetti, Ivonne, Le Saux, Olivier

Volltext

Hyaluronan–Phospholipid Interactions von Pasquali-Ronchetti, Ivonne, Quaglino, Daniela, Mori, Giuseppe, Bacchelli, Barbara, Ghosh, Peter

Volltext

Characterization of pseudoxanthoma elasticum-like lesions in the skin of patients with β-thalassemia von Baccarani-Contri, Miranda, Bacchelli, Barbara, Boraldi, Federica, Quaglino, Daniela, Taparelli, Francesca, Carnevalia, Elena, Francomano, Maria Angela, Seidenari, Stefania, Bettoli, Vincenzo, De Sanctis, Vincenzo, Pasquali-Ronchetti, Ivonne

Volltext

Acquired Pseudoxanthoma elasticum-like syndrome in [beta]-thalassaemia patients von Hamlin, Naomi, Beck, Konstanze, Bacchelli, Barbara, Cianciulli, Paolo

Volltext

The De Barsy syndrome von Guerra, Deanna, Fornieri, Claudio, Bacchelli, Barbara, Lugli, Licia, Torelli, Paola, Balli, Fiorella, Ferrari, Paola

Volltext

Dose-Dependent Prevention of Fibrosis in Aorta of Salt-Loaded Stroke-Prone Spontaneously Hypertensive Rats by Combined Delapril and Indapamide Treatment von Contri, Miranda Baccarani, Taparelli, Francesca, Miselli, Monica, Pedrazzi, Giada, Bacchelli, Barbara, Biagini, Giuseppe

Volltext

Familial Atrophia Maculosa Varioliformis Cutis: An Ultrastructural Study von Dall'Oglio, Federica, Nasca, Maria Rita, Taparelli, Francesca, Bacchelli, Barbara, Micali, Giuseppe

Volltext

Characterization of pseudoxanthoma elasticum-like lesions in the skin of patients with ?-thalassemia von Baccarani-Contri, Miranda, Bacchelli, Barbara, Boraldi, Federica, Quaglino, Daniela, Taparelli, Francesca, Carnevalia, Elena, Francomano, Maria Angela, Seidenari, Stefania, Bettoli, Vincenzo, De Sanctis, Vincenzo, Pasquali-Ronchetti, Ivonne

Volltext

The De Barsy syndrome von GUERRA, Deanna, FORNIERI, Claudio, BACCHELLI, Barbara, LUGLI, Licia, TORELLI, Paola, BALLI, Fiorella, FERRARI, Paola

Volltext

The De Barsy syndrome von Guerra, Deanna, Fornieri, Claudio, Bacchelli, Barbara, Lugli, Licia, Torelli, Paola, Balli, Fiorella, Ferrari, Paola

Volltext

Familial Atrophia Maculosa Varioliformis Cutis: An Ultrastructural Study von Dall'Oglio, Federica, Nasca, Maria Rita, Taparelli, Francesca, Bacchelli, Barbara, Micali, Giuseppe

Volltext

Genetic and functional analyses of SHANK2 mutations suggest a multiple hit model of autism spectrum disorders von Leblond, Claire S, Heinrich, Jutta, Delorme, Richard, Proepper, Christian, Betancur, Catalina, Huguet, Guillaume, Konyukh, Marina, Chaste, Pauline, Ey, Elodie, Rastam, Maria, Anckarsäter, Henrik, Nygren, Gudrun, Gillberg, I Carina, Melke, Jonas, Toro, Roberto, Regnault, Beatrice, Fauchereau, Fabien, Mercati, Oriane, Lemière, Nathalie, Skuse, David, Poot, Martin, Holt, Richard, Monaco, Anthony P, Järvelä, Irma, Kantojärvi, Katri, Vanhala, Raija, Curran, Sarah, Collier, David A, Bolton, Patrick, Chiocchetti, Andreas, Klauck, Sabine M, Poustka, Fritz, Freitag, Christine M, Waltes, Regina, Kopp, Marnie, Duketis, Eftichia, Bacchelli, Elena, Minopoli, Fiorella, Ruta, Liliana, Battaglia, Agatino, Mazzone, Luigi, Maestrini, Elena, Sequeira, Ana F, Oliveira, Barbara, Vicente, Astrid, Oliveira, Guiomar, Pinto, Dalila, Scherer, Stephen W, Zelenika, Diana, Delepine, Marc, Lathrop, Mark, Bonneau, Dominique, Guinchat, Vincent, Devillard, Françoise, Assouline, Brigitte, Mouren, Marie-Christine, Leboyer, Marion, Gillberg, Christopher, Boeckers, Tobias M, Bourgeron, Thomas

Volltext

Individual common variants exert weak effects on the risk for autism spectrum disorderspi von ANNEY, Richard, KLEI, Lambertus, BRENNAN, Sean, BRIAN, Jessica, CASEY, Jillian, CONROY, Judith, CORREIA, Catarina, CORSELLO, Christina, CRAWFORD, Emily L, DE JONGE, Maretha, DELORME, Richard, DUKETIS, Eftichia, PINTO, Dalila, DUQUE, Frederico, ESTES, Annette, FARRAR, Penny, FERNANDEZ, Bridget A, FOLSTEIN, Susan E, FOMBONNE, Eric, GILBERT, John, GILLBERG, Christopher, GLESSNER, Joseph T, GREEN, Andrew, ALMEIDA, Joana, GREEN, Jonathan, GUTER, Stephen J, HERON, Elizabeth A, HOLT, Richard, HOWE, Jennifer L, HUGHES, Gillian, HUS, Vanessa, IGLIOZZI, Roberta, JACOB, Suma, KENNY, Graham P, BACCHELLI, Elena, KIM, Cecilia, KOLEVZON, Alexander, KUSTANOVICH, Vlad, LAJONCHERE, Clara M, LAMB, Janine A, LAW-SMITH, Miriam, LEBOYER, Marion, LE COUTEUR, Ann, LEVENTHAL, Bennett L, LIU, Xiao-Qing, BAIRD, Gillian, LOMBARD, Frances, LORD, Catherine, LOTSPEICH, Linda, LUND, Sabata C, MAGALHAES, Tiago R, MANTOULAN, Carine, MCDOUGLE, Christopher J, MELHEM, Nadine M, MERIKANGAS, Alison, MINSHEW, Nancy J, BOLSHAKOVA, Nadia, BÖLTE, Sven, BOLTON, Patrick F, BOURGERON, Thomas

Volltext

Telomerecat: A ploidy-agnostic method for estimating telomere length from whole genome sequencing data von Farmery, James H. R., Smith, Mike L., Lynch, Andy G.

Volltext

Lack of replication of previous autism spectrum disorder GWAS hits in European populations von Torrico, Bàrbara, Chiocchetti, Andreas G., Bacchelli, Elena, Trabetti, Elisabetta, Hervás, Amaia, Franke, Barbara, Buitelaar, Jan K., Rommelse, Nanda, Yousaf, Afsheen, Duketis, Eftichia, Freitag, Christine M., Caballero‐Andaluz, Rafaela, Martinez‐Mir, Amalia, Scholl, Francisco G., Ribasés, Marta, Battaglia, Agatino, Malerba, Giovanni, Delorme, Richard, Benabou, Marion, Maestrini, Elena, Bourgeron, Thomas, Cormand, Bru, Toma, Claudio

Volltext

The impact of the metabotropic glutamate receptor and other gene family interaction networks on autism von Hadley, Dexter, Wu, Zhi-liang, Kao, Charlly, Kini, Akshata, Mohamed-Hadley, Alisha, Thomas, Kelly, Vazquez, Lyam, Qiu, Haijun, Mentch, Frank, Pellegrino, Renata, Kim, Cecilia, Connolly, John, Glessner, Joseph, Hakonarson, Hakon

Volltext

A genome-wide scan for common alleles affecting risk for autism von Pinto, Dalila, Regan, Regina, Magalhaes, Tiago R., Abrahams, Brett S., Pagnamenta, Alistair T., Almeida, Joana, Bailey, Anthony J., Baird, Gillian, Battaglia, Agatino, Bolshakova, Nadia, Bölte, Sven, Bolton, Patrick F., Brennan, Sean, Carson, Andrew R., Casallo, Guillermo, Chu, Su H., Cochrane, Lynne, Dawson, Geraldine, de Jonge, Maretha, Delorme, Richard, Duketis, Eftichia, Duque, Frederico, Estes, Annette, Fernandez, Bridget A., Fombonne, Eric, Freitag, Christine M., Glessner, Joseph T., Goldberg, Jeremy, Green, Jonathan, Heron, Elizabeth A., Holt, Richard, Hughes, Gillian, Hus, Vanessa, Kim, Cecilia, Korvatska, Olena, Kustanovich, Vlad, Lajonchere, Clara M., Leboyer, Marion, Leventhal, Bennett L., Liu, Xiao-Qing, Lord, Catherine, Lotspeich, Linda, Marshall, Christian R., McConachie, Helen, McMahon, William M., Melhem, Nadine M., Merikangas, Alison, Migita, Ohsuke, Munson, Jeff, Nelson, Stanley F., Noakes, Carolyn, Noor, Abdul, Nygren, Gudrun, Papanikolaou, Katerina, Parr, Jeremy R., Poustka, Annemarie, Poustka, Fritz, Prasad, Aparna, Renshaw, Katy, Rickaby, Jessica, Roberts, Wendy, Roge, Bernadette, Bierut, Laura J., Rice, John P., Salt, Jeff, Sansom, Katherine, Sato, Daisuke, Segurado, Ricardo, Shah, Naisha, Sheffield, Val C., Soorya, Latha, Stoppioni, Vera, Tancredi, Raffaella, Thompson, Ann P., Thomson, Susanne, Tryfon, Ana, Van Engeland, Herman, Wang, Kai, Wang, Zhouzhi, Wassink, Thomas H., Wittemeyer, Kerstin, Wood, Shawn, Yaspan, Brian L., Zurawiecki, Danielle, Buxbaum, Joseph D., Cantor, Rita M., Cook, Edwin H., Coon, Hilary, Cuccaro, Michael L., Gallagher, Louise, Geschwind, Daniel H., Gill, Michael, Haines, Jonathan L., Paterson, Andrew D., Sutcliffe, James S., Szatmari, Peter, Vicente, Astrid M., Wijsman, Ellen M., Devlin, Bernie, Hallmayer, Joachim

Volltext