检索结果 - Fahiminiya, Somayyeh

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

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

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

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

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

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

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

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

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Somatic overgrowth associated with homozygous mutations in both MAN1B1 and SEC23A 由 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.

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An N-terminal formyl methionine on COX 1 is required for the assembly of cytochrome c oxidase 由 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.

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A novel pathogenic missense ADAMTS17 variant that impairs secretion causes Weill-Marchesani Syndrome with variably dysmorphic hand features 由 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.

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Homozygosity for Frameshift Mutations in XYLT2 Result in a Spondylo-Ocular Syndrome with Bone Fragility, Cataracts, and Hearing Defects 由 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.

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ARHGDIA: a novel gene implicated in nephrotic syndrome 由 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

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SLC25A46 is required for mitochondrial lipid homeostasis and cristae maintenance and is responsible for Leigh syndrome 由 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

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Metaphyseal Dysplasia with Maxillary Hypoplasia and Brachydactyly Is Caused by a Duplication in RUNX2 由 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

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Molecular analyses reveal close similarities between small cell carcinoma of the ovary, hypercalcemic type and atypical teratoid/rhabdoid tumor 由 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.

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A truncating mutation in CEP55 is the likely cause of MARCH, a novel syndrome affecting neuronal mitosis 由 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

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Poorly differentiated thyroid carcinoma of childhood and adolescence: A distinct entity characterized by DICER1 mutations 由 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

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Recessive Osteogenesis Imperfecta Caused by Missense Mutations in SPARC 由 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

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Hemizygous mutations in SNAP29 unmask autosomal recessive conditions and contribute to atypical findings in patients with 22q11.2DS 由 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

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