Suchergebnisse - Farra, Chantal

A novel cystic fibrosis gene mutation c.2490insT in a Palestinian patient: A case report and review of the literature von Chami, Hassan, Arbid, Samer Abou, Badra, Rebecca, Farra, Chantal

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BRCA mutations in a cohort of Iraqi patients presenting to a tertiary referral center von Farra, Chantal, Dagher, Christelle, Hamadeh, Lama, El Saghir, Nagi, Mukherji, Deborah

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Abdominal Wall Desmoid during Pregnancy: Diagnostic Challenges von Awwad, Johnny, Hammoud, Nadine, Farra, Chantal, Fares, Farah, Abi Saad, George, Ghazeeri, Ghina

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An unusual case of chronic lymphocytic leukemia with trisomy 12 and t(14;18) and a favorable response to ibrutinib von Haddad, Fady Gh, Chebly, Alain, El Sett, Antoine, Kourie, Hampig Raphael, Farra, Chantal

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A Lebanese family with autosomal recessive oculo-auriculo-vertebral (OAV) spectrum and review of the literature: is OAV a genetically heterogeneous disorder? von Farra, Chantal, Yunis, Khaled, Yazbeck, Nadine, Majdalani, Marianne, Charafeddine, Lama, Wakim, Rima, Awwad, Johnny

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Dubowitz syndrome: common findings and peculiar urine odor von Chehade, Cynthia, Awwad, Johnny, Yazbeck, Nadine, Majdalani, Marianne, Wakim, Rima, Tfayli, Hala, Farra, Chantal

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17p13.3 Microduplication Syndrome: Further Delineating the Clinical Spectrum von Farra, Chantal, Abdouni, Lina, Hani, Abeer, Dirani, Leyla, Hamdar, Layal, Souaid, Mirna, Awwad, Johnny

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Incidence of Alpha-Globin Gene Defect in the Lebanese Population: A Pilot Study von Farra, Chantal, Daher, Rose, Badra, Rebecca, el Rafei, Rym, Bejjany, Rachelle, Charafeddine, Lama, Yunis, Khalid

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Pediatric M5 acute myeloid leukemia with MLL-SEPT6 fusion and a favorable outcome von Chebly, Alain, Djambas Khayat, Claudia, Yammine, Tony, Korban, Rima, Semaan, Warde, Bou Zeid, Jessica, Farra, Chantal

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Ellis-van Creveld Syndrome: Mutations Uncovered in Lebanese Families von Valencia, Maria, Tabet, Lara, Yazbeck, Nadine, Araj, Alia, Ruiz-Perez, Victor L., Charaffedine, Khalil, Fares, Farah, Badra, Rebecca, Farra, Chantal

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A rare case of acute myeloid leukemia with t(12;19)(q13;q13) von Chebly, Alain, Haddad, Fady Gh, Bassil, Josiane, Yammine, Tony, Korban, Rima, Semaan, Warde, El Karak, Fady, Kourie, Hampig Raphael, Farra, Chantal

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Telomeric Repeat-Containing RNA (TERRA): A Review of the Literature and First Assessment in Cutaneous T-Cell Lymphomas von Chebly, Alain, Ropio, Joana, Baldasseroni, Lyla, Prochazkova-Carlotti, Martina, Idrissi, Yamina, Ferrer, Jacky, Farra, Chantal, Beylot-Barry, Marie, Merlio, Jean-Philippe, Chevret, Edith

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BRCA mutation screening and patterns among high-risk Lebanese subjects von Farra, Chantal, Dagher, Christelle, Badra, Rebecca, Hammoud, Miza Salim, Alameddine, Raafat, Awwad, Johnny, Seoud, Muhieddine, Abbas, Jaber, Boulos, Fouad, El Saghir, Nagi, Mukherji, Deborah

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Targeting Epigenetic Modifiers Can Reduce the Clonogenic Capacities of Sézary Cells von Chebly, Alain, Prochazkova-Carlotti, Martina, Idrissi, Yamina, Bresson-Bepoldin, Laurence, Poglio, Sandrine, Farra, Chantal, Beylot-Barry, Marie, Merlio, Jean-Philippe, Tomb, Roland, Chevret, Edith

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Genomic analysis of Meckel–Gruber syndrome in Arabs reveals marked genetic heterogeneity and novel candidate genes von Shaheen, Ranad, Faqeih, Eissa, Alshammari, Muneera J, Swaid, Abdulrahman, Al-Gazali, Lihadh, Mardawi, Elham, Ansari, Shinu, Sogaty, Sameera, Seidahmed, Mohammed Z, AlMotairi, Muhammed I, Farra, Chantal, Kurdi, Wesam, Al-Rasheed, Shatha, Alkuraya, Fowzan S

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Validation of a semiconductor next-generation sequencing assay for the clinical genetic screening of CFTR von Trujillano, Daniel, Weiss, Maximilian E R, Köster, Julia, Papachristos, Efstathios B, Werber, Martin, Kandaswamy, Krishna Kumar, Marais, Anett, Eichler, Sabrina, Creed, Jenny, Baysal, Erol, Jaber, Iqbal Yousuf, Mehaney, Dina Ahmed, Farra, Chantal, Rolfs, Arndt

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Exploring hTERT promoter methylation in cutaneous T‐cell lymphomas von Chebly, Alain, Ropio, Joana, Peloponese, Jean‐Marie, Poglio, Sandrine, Prochazkova‐Carlotti, Martina, Cherrier, Floriane, Ferrer, Jacky, Idrissi, Yamina, Segal‐Bendirdjian, Evelyne, Chouery, Eliane, Farra, Chantal, Pham‐Ledard, Anne, Beylot‐Barry, Marie, Merlio, Jean‐Philippe, Tomb, Roland, Chevret, Edith

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A synonymous variant in MYO15A enriched in the Ashkenazi Jewish population causes autosomal recessive hearing loss due to abnormal splicing von Hirsch, Yoel, Tangshewinsirikul, Chayada, Booth, Kevin T., Azaiez, Hela, Yefet, Devorah, Quint, Adina, Weiden, Tzvi, Brownstein, Zippora, Macarov, Michal, Davidov, Bella, Pappas, John, Rabin, Rachel, Kenna, Margaret A., Oza, Andrea M., Lafferty, Katherine, Amr, Sami S., Rehm, Heidi L., Kolbe, Diana L., Frees, Kathy, Nishimura, Carla, Luo, Minjie, Farra, Chantal, Morton, Cynthia C., Scher, Sholem Y., Ekstein, Josef, Avraham, Karen B., Smith, Richard J. H., Shen, Jun

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Duplication of 10q24 locus: broadening the clinical and radiological spectrum von Holder-Espinasse, Muriel, Jamsheer, Aleksander, Escande, Fabienne, Andrieux, Joris, Petit, Florence, Sowinska-Seidler, Anna, Socha, Magdalena, Jakubiuk-Tomaszuk, Anna, Gerard, Marion, Mathieu-Dramard, Michèle, Cormier-Daire, Valérie, Verloes, Alain, Toutain, Annick, Plessis, Ghislaine, Jonveaux, Philippe, Baumann, Clarisse, David, Albert, Farra, Chantal, Colin, Estelle, Jacquemont, Sébastien, Rossi, Annick, Mansour, Sahar, Ghali, Neeti, Moncla, Anne, Lahiri, Nayana, Hurst, Jane, Pollina, Elena, Patch, Christine, Ahn, Joo Wook, Valat, Anne-Sylvie, Mezel, Aurélie, Bourgeot, Philippe, Zhang, David, Manouvrier-Hanu, Sylvie

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Characterization of Apparently Balanced Chromosomal Rearrangements from the Developmental Genome Anatomy Project von Higgins, Anne W., Alkuraya, Fowzan S., Bosco, Amy F., Brown, Kerry K., Bruns, Gail A.P., Donovan, Diana J., Eisenman, Robert, Fan, Yanli, Farra, Chantal G., Ferguson, Heather L., Gusella, James F., Harris, David J., Herrick, Steven R., Kelly, Chantal, Kim, Hyung-Goo, Kishikawa, Shotaro, Korf, Bruce R., Kulkarni, Shashikant, Lally, Eric, Leach, Natalia T., Lemyre, Emma, Lewis, Janine, Ligon, Azra H., Lu, Weining, Maas, Richard L., MacDonald, Marcy E., Moore, Steven D.P., Peters, Roxanna E., Quade, Bradley J., Quintero-Rivera, Fabiola, Saadi, Irfan, Shen, Yiping, Shendure, Jay, Williamson, Robin E., Morton, Cynthia C.

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