Arama Sonuçları - Fahiminiya, Somayyeh

ExomeAI: detection of recurrent allelic imbalance in tumors using whole-exome sequencing data Yazar: Nadaf, Javad, Majewski, Jacek, Fahiminiya, Somayyeh

Tam Metin Erişim Tam Metin Erişim Tam Metin Erişim

Proteomic analysis of mare follicular fluid during late follicle development Yazar: Fahiminiya, Somayyeh, Labas, Valérie, Roche, Stéphane, Dacheux, Jean-Louis, Gérard, Nadine

Tam Metin Erişim Tam Metin Erişim Tam Metin Erişim

Methodologies for Transcript Profiling Using Long-Read Technologies Yazar: Oikonomopoulos, Spyros, Bayega, Anthony, Fahiminiya, Somayyeh, Djambazian, Haig, Berube, Pierre, Ragoussis, Jiannis

Tam Metin Erişim Tam Metin Erişim Tam Metin Erişim

Steroid hormones content and proteomic analysis of canine follicular fluid during the preovulatory period Yazar: Fahiminiya, Somayyeh, Reynaud, Karine, Labas, Valérie, Batard, Séverine, Chastant-Maillard, Sylvie, Gérard, Nadine

Tam Metin Erişim Tam Metin Erişim Tam Metin Erişim

Molecular Genetics of the Usher Syndrome in Lebanon: Identification of 11 Novel Protein Truncating Mutations by Whole Exome Sequencing Yazar: Reddy, Ramesh, Fahiminiya, Somayyeh, El Zir, Elie, Mansour, Ahmad, Megarbane, Andre, Majewski, Jacek, Slim, Rima

Tam Metin Erişim Tam Metin Erişim Tam Metin Erişim

Beyond Homozygosity Mapping: Family-Control analysis based on Hamming distance for prioritizing variants in exome sequencing Yazar: Imai, Atsuko, Nakaya, Akihiro, Fahiminiya, Somayyeh, Tétreault, Martine, Majewski, Jacek, Sakata, Yasushi, Takashima, Seiji, Lathrop, Mark, Ott, Jurg

Tam Metin Erişim Tam Metin Erişim Tam Metin Erişim

Atypical tuberous sclerosis complex presenting as familial renal cell carcinoma with leiomyomatous stroma Yazar: Bah, Ismaël, Fahiminiya, Somayyeh, Bégin, Louis R, Hamel, Nancy, D'Agostino, Maria D, Tanguay, Simon, Foulkes, William D

Tam Metin Erişim Tam Metin Erişim Tam Metin Erişim

Cole-Carpenter Syndrome Is Caused by a Heterozygous Missense Mutation in P4HB Yazar: Rauch, Frank, Fahiminiya, Somayyeh, Majewski, Jacek, Carrot-Zhang, Jian, Boudko, Sergei, Glorieux, Francis, Mort, John S., Bächinger, Hans-Peter, Moffatt, Pierre

Tam Metin Erişim Tam Metin Erişim Tam Metin Erişim

Somatic overgrowth associated with homozygous mutations in both MAN1B1 and SEC23A Yazar: Gupta, Swati, Fahiminiya, Somayyeh, Wang, Tracy, Dempsey Nunez, Laura, Rosenblatt, David S., Gibson, William T., Gilfix, Brian, Bergeron, John J. M., Jerome-Majewska, Loydie A.

Tam Metin Erişim Tam Metin Erişim Tam Metin Erişim

An N-terminal formyl methionine on COX 1 is required for the assembly of cytochrome c oxidase Yazar: Hinttala, Reetta, Sasarman, Florin, Nishimura, Tamiko, Antonicka, Hana, Brunel-Guitton, Catherine, Schwartzentruber, Jeremy, Fahiminiya, Somayyeh, Majewski, Jacek, Faubert, Denis, Ostergaard, Elsebet, Smeitink, Jan A., Shoubridge, Eric A.

Tam Metin Erişim Tam Metin Erişim Tam Metin Erişim

A novel pathogenic missense ADAMTS17 variant that impairs secretion causes Weill-Marchesani Syndrome with variably dysmorphic hand features Yazar: Evans, Daniel R., Green, Jane S., Fahiminiya, Somayyeh, Majewski, Jacek, Fernandez, Bridget A., Deardorff, Matthew A., Johnson, Gordon J., Whelan, James H., Hubmacher, Dirk, Apte, Suneel S., Woods, Michael O.

Tam Metin Erişim Tam Metin Erişim Tam Metin Erişim

Homozygosity for Frameshift Mutations in XYLT2 Result in a Spondylo-Ocular Syndrome with Bone Fragility, Cataracts, and Hearing Defects Yazar: Munns, Craig F., Fahiminiya, Somayyeh, Poudel, Nabin, Munteanu, Maria Cristina, Majewski, Jacek, Sillence, David O., Metcalf, Jordan P., Biggin, Andrew, Glorieux, Francis, Fassier, François, Rauch, Frank, Hinsdale, Myron E.

Tam Metin Erişim Tam Metin Erişim Tam Metin Erişim

ARHGDIA: a novel gene implicated in nephrotic syndrome Yazar: Gupta, Indra Rani, Baldwin, Cindy, Auguste, David, Ha, Kevin C H, El Andalousi, Jasmine, Fahiminiya, Somayyeh, Bitzan, Martin, Bernard, Chantal, Akbari, Mohammad Reza, Narod, Steven A, Rosenblatt, David S, Majewski, Jacek, Takano, Tomoko

Tam Metin Erişim Tam Metin Erişim Tam Metin Erişim

SLC25A46 is required for mitochondrial lipid homeostasis and cristae maintenance and is responsible for Leigh syndrome Yazar: Janer, Alexandre, Prudent, Julien, Paupe, Vincent, Fahiminiya, Somayyeh, Majewski, Jacek, Sgarioto, Nicolas, Des Rosiers, Christine, Forest, Anik, Lin, Zhen‐Yuan, Gingras, Anne‐Claude, Mitchell, Grant, McBride, Heidi M, Shoubridge, Eric A

Tam Metin Erişim Tam Metin Erişim Tam Metin Erişim

Metaphyseal Dysplasia with Maxillary Hypoplasia and Brachydactyly Is Caused by a Duplication in RUNX2 Yazar: Moffatt, Pierre, Ben Amor, Mouna, Glorieux, Francis H., Roschger, Paul, Klaushofer, Klaus, Schwartzentruber, Jeremy A., Paterson, Andrew D., Hu, Pingzhao, Marshall, Christian, Fahiminiya, Somayyeh, Majewski, Jacek, Beaulieu, Chandree L., Boycott, Kym M., Rauch, Frank

Tam Metin Erişim Tam Metin Erişim Tam Metin Erişim

Molecular analyses reveal close similarities between small cell carcinoma of the ovary, hypercalcemic type and atypical teratoid/rhabdoid tumor Yazar: Fahiminiya, Somayyeh, Witkowski, Leora, Nadaf, Javad, Carrot-Zhang, Jian, Goudie, Catherine, Hasselblatt, Martin, Johann, Pascal, Kool, Marcel, Lee, Ryan S., Gayden, Tenzin, Roberts, Charles W. M., Biegel, Jaclyn A., Jabado, Nada, Majewski, Jacek, Foulkes, William D.

Tam Metin Erişim Tam Metin Erişim

A truncating mutation in CEP55 is the likely cause of MARCH, a novel syndrome affecting neuronal mitosis Yazar: Frosk, Patrick, Arts, Heleen H, Philippe, Julien, Gunn, Carter S, Brown, Emma L, Chodirker, Bernard, Simard, Louise, Majewski, Jacek, Fahiminiya, Somayyeh, Russell, Chad, Liu, Yangfan P, Hegele, Robert, Katsanis, Nicholas, Goerz, Conrad, Del Bigio, Marc R, Davis, Erica E

Tam Metin Erişim Tam Metin Erişim Tam Metin Erişim

Poorly differentiated thyroid carcinoma of childhood and adolescence: A distinct entity characterized by DICER1 mutations Yazar: Chernock, Rebecca D, Rivera, Barbara, Borrelli, Nicla, Hill, D. Ashley, Fahiminiya, Somayyeh, Shah, Tasha, Chong, Anne-Sophie, Aqil, Barina, Mehrad, Mitra, Giordano, Thomas J, Sheridan, Rachel, Rutter, Meilan M, Dehner, Louis P., Foulkes, William D., Nikiforov, Yuri E

Tam Metin Erişim Tam Metin Erişim Tam Metin Erişim

Recessive Osteogenesis Imperfecta Caused by Missense Mutations in SPARC Yazar: Mendoza-Londono, Roberto, Fahiminiya, Somayyeh, Majewski, Jacek, Tétreault, Martine, Nadaf, Javad, Kannu, Peter, Sochett, Etienne, Howard, Andrew, Stimec, Jennifer, Dupuis, Lucie, Roschger, Paul, Klaushofer, Klaus, Palomo, Telma, Ouellet, Jean, Al-Jallad, Hadil, Mort, John S., Moffatt, Pierre, Boudko, Sergei, Bächinger, Hans-Peter, Rauch, Frank

Tam Metin Erişim Tam Metin Erişim Tam Metin Erişim

Hemizygous mutations in SNAP29 unmask autosomal recessive conditions and contribute to atypical findings in patients with 22q11.2DS Yazar: McDonald-McGinn, Donna M, Fahiminiya, Somayyeh, Revil, Timothée, Nowakowska, Beata A, Suhl, Joshua, Bailey, Alice, Mlynarski, Elisabeth, Lynch, David R, Yan, Albert C, Bilaniuk, Larissa T, Sullivan, Kathleen E, Warren, Stephen T, Emanuel, Beverly S, Vermeesch, Joris R, Zackai, Elaine H, Jerome-Majewska, Loydie A

Tam Metin Erişim Tam Metin Erişim Tam Metin Erişim