Rezultati pretrage - Swistun, Dominika

Expanding the Clinical Spectrum of SPG11 Gene Mutations in Recessive Hereditary Spastic Paraplegia with Thin Corpus Callosum od Aleem, Alice Abdel, Abu-Shahba, Nourhan, Swistun, Dominika, Silhavy, Jennifer, Bielas, Stephanie L., Sattar, Shifteh, Gleeson, Joseph G., Zaki, Maha

Preuzmi cijeli tekst Preuzmi cijeli tekst Preuzmi cijeli tekst

Concurrent and Longitudinal Associations of Sex and Race with Inflammatory Biomarkers during Adolescence od Giollabhui, Naoise Mac, Alloy, Lauren B., Swistun, Dominika, Coe, Christopher L., Ellman, Lauren M., Moriarity, Daniel P., Stumper, Allison C., Abramson, Lyn Y.

Preuzmi cijeli tekst Preuzmi cijeli tekst Preuzmi cijeli tekst

Executive Dysfunction in Depression in Adolescence: The Role of Inflammation and Higher Body Mass od Mac Giollabhui, Naoise, Swistun, Dominika, Murray, Susan, Moriarity, Daniel P, Kautz, Marin M, Ellman, Lauren M, Olino, Thomas M, Coe, Christopher L, Abramson, Lyn Y, Alloy, Lauren B

Preuzmi cijeli tekst Preuzmi cijeli tekst Preuzmi cijeli tekst

Expanding CEP290 mutational spectrum in ciliopathies od Travaglini, Lorena, Brancati, Francesco, Attie-Bitach, Tania, Audollent, Sophie, Bertini, Enrico, Kaplan, Josseline, Perrault, Isabelle, Iannicelli, Miriam, Mancuso, Brunella, Rigoli, Luciana, Rozet, Jean-Michel, Swistun, Dominika, Tolentino, Jerlyn, Dallapiccola, Bruno, Gleeson, Joseph G., Valente, Enza Maria

Preuzmi cijeli tekst Preuzmi cijeli tekst Preuzmi cijeli tekst

Mutations in the inositol polyphosphate-5-phosphatase E gene link phosphatidyl inositol signaling to the ciliopathies od Bielas, Stephanie L., Silhavy, Jennifer L., Brancati, Francesco, Kisseleva, Marina V., Al-Gazali, Lihadh, Sztriha, Laszlo, Bayoumi, Riad A., Zaki, Maha S., Abdel-Aleem, Alice, Rosti, Ozgur, Kayserili, Hulya, Swistun, Dominika, Scott, Lesley C., Bertini, Enrico, Boltshauser, Eugen, Fazzi, Elisa, Travaglini, Lorena, Field, Seth J., Gayral, Stephanie, Jacoby, Monique, Schurmans, Stephane, Dallapiccola, Bruno, Majerus, Philip W., Valente, Enza Maria, Gleeson, Joseph G.

Preuzmi cijeli tekst Preuzmi cijeli tekst Preuzmi cijeli tekst

Mutations in the Cilia Gene ARL13B Lead to the Classical Form of Joubert Syndrome od Cantagrel, Vincent, Silhavy, Jennifer L., Bielas, Stephanie L., Swistun, Dominika, Marsh, Sarah E., Bertrand, Julien Y., Audollent, Sophie, Attié-Bitach, Tania, Holden, Kenton R., Dobyns, William B., Traver, David, Al-Gazali, Lihadh, Ali, Bassam R., Lindner, Tom H., Caspary, Tamara, Otto, Edgar A., Hildebrandt, Friedhelm, Glass, Ian A., Logan, Clare V., Johnson, Colin A., Bennett, Christopher, Brancati, Francesco, Valente, Enza Maria, Woods, C. Geoffrey, Gleeson, Joseph G.

Preuzmi cijeli tekst Preuzmi cijeli tekst Preuzmi cijeli tekst

SRD5A3 is required for the conversion of polyprenol to dolichol, essential for N-linked protein glycosylation od Cantagrel, Vincent, Lefeber, Dirk J, Ng, Bobby G., Guan, Ziqiang, Silhavy, Jennifer L., Bielas, Stephanie L., Lehle, Ludwig, Hombauer, Hans, Adamowicz, Maciej, Swiezewska, Ewa, De Brouwer, Arjan P., Blümel, Peter, Sykut-Cegielska, Jolanta, Houliston, Scott, Swistun, Dominika, Ali, Bassam R., Babovic-Vuksanovic, Dusica, van Bokhoven, Hans, Wevers, Ron A, Raetz, Christian R.H., Freeze, Hudson H., Morava, Éva, Al-Gazali, Lihadh, Gleeson, Joseph G.

Preuzmi cijeli tekst Preuzmi cijeli tekst Preuzmi cijeli tekst

Novel TMEM67 Mutations and Genotype-phenotype Correlates in Meckelin-related Ciliopathies od Iannicelli, Miriam, Brancati, Francesco, Mougou-Zerelli, Soumaya, Mazzotta, Annalisa, Thomas, Sophie, Elkhartoufi, Nadia, Travaglini, Lorena, Gomes, Céline, Ardissino, Gian Luigi, Bertini, Enrico, Boltshauser, Eugen, Castorina, Pierangela, D'Arrigo, Stefano, Fischetto, Rita, Leroy, Brigitte, Loget, Philippe, Bonnière, Maryse, Starck, Lena, Tantau, Julia, Gentilin, Barbara, Majore, Silvia, Swistun, Dominika, Flori, Elizabeth, Lalatta, Faustina, Pantaleoni, Chiara, Johannes.Penzien, Grammatico, Paola, Dallapiccola, Bruno, Gleeson, Joseph G., Attie-Bitach, Tania, Valente, Enza Maria

Preuzmi cijeli tekst Preuzmi cijeli tekst Preuzmi cijeli tekst

Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes od Valente, Enza Maria, Logan, Clare V., Mougou-Zerelli, Soumaya, Lee, Jeong Ho, Silhavy, Jennifer L., Brancati, Francesco, Iannicelli, Miriam, Travaglini, Lorena, Romani, Sveva, Illi, Barbara, Adams, Matthew, Szymanska, Katarzyna, Mazzotta, Annalisa, Lee, Ji Eun, Tolentino, Jerlyn C., Swistun, Dominika, Salpietro, Carmelo D., Fede, Carmelo, Gabriel, Stacey, Russ, Carsten, Cibulskis, Kristian, Sougnez, Carrie, Hildebrandt, Friedhelm, Otto, Edgar A., Held, Susanne, Diplas, Bill H., Davis, Erica, Mikula, Mario, Strom, Charles M., Ben-Ze’ev, Bruria, Lev, Dorit, Sagie, Tally Lerman, Michelson, Marina, Yaron, Yuval, Krause, Amanda, Boltshauser, Eugen, Elkhartoufi, Nadia, Roume, Joelle, Shalev, Stavit, Munnich, Arnold, Saunier, Sophie, Inglehearn, Chris, Saad, Ali, Alkindy, Adila, Thomas, Sophie, Vekemans, Michel, Dallapiccola, Bruno, Katsanis, Nicholas, Johnson, Colin A., Attié-Bitach, Tania, Gleeson, Joseph G.

Preuzmi cijeli tekst Preuzmi cijeli tekst Preuzmi cijeli tekst