Ohcanbohtosat - Somayyeh Fahiminiya

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  1. 1
    Proteomic analysis of mare follicular fluid during late follicle development

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

    Almmustuhtton 2011
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  2. 2
    Methodologies for Transcript Profiling Using Long-Read Technologies

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

    Almmustuhtton 2020
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    Revisão
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  3. 3
    A polyadenylation site variant causes transcript-specific BMP1 deficiency and frequent fractures in children

    A polyadenylation site variant causes transcript-specific BMP1 deficiency and frequent fractures in children Dahkki Somayyeh Fahiminiya, Hadil Al‐Jallad, Jacek Majewski, Telma Palomo, Pierre Moffatt, Paul Roschger, Klaus Klaushofer, Francis H. Glorieux, Frank Rauch

    Almmustuhtton 2014
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    Artigo
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  4. 4
    Osteoporosis Caused by Mutations in<i>PLS3</i>: Clinical and Bone Tissue Characteristics

    Osteoporosis Caused by Mutations in<i>PLS3</i>: Clinical and Bone Tissue Characteristics Dahkki Somayyeh Fahiminiya, Jacek Majewski, Hadil Al‐Jallad, Pierre Moffatt, John S. Mort, Francis H. Glorieux, Paul Roschger, Klaus Klaushofer, Frank Rauch

    Almmustuhtton 2014
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  5. 5
    Anaplastic sarcomas of the kidney are characterized by DICER1 mutations

    Anaplastic sarcomas of the kidney are characterized by DICER1 mutations Dahkki Mona K. Wu, Gordan Vujanić, Somayyeh Fahiminiya, Noriko Watanabe, Paul S. Thorner, Maureen J. O’Sullivan, Marc R. Fabian, William D. Foulkes

    Almmustuhtton 2017
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  6. 6
    Cole-Carpenter Syndrome Is Caused by a Heterozygous Missense Mutation in P4HB

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

    Almmustuhtton 2015
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  7. 7
    DICER1 Mutations Are Frequent in Adolescent-Onset Papillary Thyroid Carcinoma

    DICER1 Mutations Are Frequent in Adolescent-Onset Papillary Thyroid Carcinoma Dahkki Jonathan D. Wasserman, Nelly Sabbaghian, Somayyeh Fahiminiya, Rose Chami, Özgür Mete, Meryl Acker, Mona K. Wu, Adam Shlien, Leanne de Kock, William D. Foulkes

    Almmustuhtton 2018
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  8. 8
    Homozygosity for Frameshift Mutations in XYLT2 Result in a Spondylo-Ocular Syndrome with Bone Fragility, Cataracts, and Hearing Defects

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

    Almmustuhtton 2015
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  9. 9
    <i>ARHGDIA</i>: a novel gene implicated in nephrotic syndrome

    <i>ARHGDIA</i>: a novel gene implicated in nephrotic syndrome Dahkki Indra R. Gupta, Cindy Baldwin, David Auguste, Kevin Ha, Jasmine El Andalousi, Somayyeh Fahiminiya, Martin Bitzan, Chantal Bernard, Mohammad R. Akbari, Steven A. Narod, David S. Rosenblatt, Jacek Majewski, Tomoko Takano

    Almmustuhtton 2013
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  10. 10
    Loss-of-Function Mutation in APC2 Causes Sotos Syndrome Features

    Loss-of-Function Mutation in APC2 Causes Sotos Syndrome Features Dahkki Mariam Almuriekhi, Takafumi Shintani, Somayyeh Fahiminiya, Akihiro Fujikawa, Kazuya Kuboyama, Yasushi Takéuchi, Zafar Nawaz, Javad Nadaf, Hussein Kamel, Abu Khadija Kitam, Zaineddin Samiha, Laila Mahmoud, Tawfeg Ben‐Omran, Jacek Majewski, Masaharu Noda

    Almmustuhtton 2015
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  11. 11
    <i><scp>SLC</scp>25A46</i> is required for mitochondrial lipid homeostasis and cristae maintenance and is responsible for Leigh syndrome

    <i><scp>SLC</scp>25A46</i> is required for mitochondrial lipid homeostasis and cristae maintenance and is responsible for Leigh syndrome Dahkki Alexandre Janer, Julien Prudent, Vincent Paupe, Somayyeh Fahiminiya, Jacek Majewski, Nicolas Sgarioto, Christine Des Rosiers, Anik Forest, Zhen‐Yuan Lin, Anne‐Claude Gingras, Grant A. Mitchell, Heidi M. McBride, Eric A. Shoubridge

    Almmustuhtton 2016
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  12. 12
    Molecular analyses reveal close similarities between small cell carcinoma of the ovary, hypercalcemic type and atypical teratoid/rhabdoid tumor

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

    Almmustuhtton 2015
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  13. 13
    Poorly differentiated thyroid carcinoma of childhood and adolescence: a distinct entity characterized by DICER1 mutations

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

    Almmustuhtton 2020
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  14. 14
    A truncating mutation in CEP55 is the likely cause of MARCH, a novel syndrome affecting neuronal mitosis

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

    Almmustuhtton 2017
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  15. 15
    Recessive Osteogenesis Imperfecta Caused by Missense Mutations in SPARC

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

    Almmustuhtton 2015
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  16. 16
    Hemizygous mutations in SNAP29 unmask autosomal recessive conditions and contribute to atypical findings in patients with 22q11.2DS

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

    Almmustuhtton 2012
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  17. 17
    Causative Mutations and Mechanism of Androgenetic Hydatidiform Moles

    Causative Mutations and Mechanism of Androgenetic Hydatidiform Moles Dahkki Ngoc Minh Nguyen, Zhao‐Jia Ge, Ramesh Reddy, Somayyeh Fahiminiya, Philippe Sauthier, Rashmi Bagga, Feride İffet Şahin, Sangeetha Mahadevan, Matthew Osmond, Magali Bréguet, Kurosh Rahimi, Louise Lapensée, Karine Hovanes, Radhika Srinivasan, Ignatia B. Van den Veyver, Trilochan Sahoo, Asangla Ao, Jacek Majewski, Teruko Taketo, Rima Slim

    Almmustuhtton 2018
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  18. 18
    Rare variants in<i>SOS2</i>and<i>LZTR1</i>are associated with Noonan syndrome

    Rare variants in<i>SOS2</i>and<i>LZTR1</i>are associated with Noonan syndrome Dahkki Guilherme Lopes Yamamoto, Meire Aguena, Monika Goś, Christina Hung, Jacek Pilch, Somayyeh Fahiminiya, Anna Abramowicz, Ingrid Cristian, Michelle Buscarilli, Michel Satya Naslavsky, Alexsandra C. Malaquias, Mayana Zatz, Olaf A. Bodamer, Jacek Majewski, Alexander A.L. Jorge, Alexandre C. Pereira, Chong Ae Kim, Maria Rita Passos‐Bueno, Débora Romeo Bertola

    Almmustuhtton 2015
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  19. 19
    DGCR8 microprocessor defect characterizes familial multinodular goiter with schwannomatosis

    DGCR8 microprocessor defect characterizes familial multinodular goiter with schwannomatosis Dahkki Bárbara Rivera, Javad Nadaf, Somayyeh Fahiminiya, María Apellániz-Ruiz, Avi Saskin, Anne‐Sophie Chong, Sahil Sharma, Rabea Wagener, Timothée Revil, Vincenzo Condello, Zineb Harra, Nancy Hamel, Nelly Sabbaghian, Karl Muchantef, Christian Thomas, Leanne de Kock, Marie‐Noëlle Hébert‐Blouin, Angelia V. Bassenden, Hannah Rabenstein, Özgür Mete, Ralf Paschke, Marc Pusztaszeri, Werner Paulus, Albert M. Berghuis, Jiannis Ragoussis, Yuri E. Nikiforov, Reiner Siebert, Steffen Albrecht, Robert Turcotte, Martin Hasselblatt, Marc R. Fabian, William D. Foulkes

    Almmustuhtton 2019
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  20. 20
    Germline and somatic FGFR1 abnormalities in dysembryoplastic neuroepithelial tumors

    Germline and somatic FGFR1 abnormalities in dysembryoplastic neuroepithelial tumors Dahkki Bárbara Rivera, Tenzin Gayden, Jian Carrot‐Zhang, Javad Nadaf, Talia Boshari, Damien Faury, Michele Zeinieh, R. Blanc, David L. Burk, Somayyeh Fahiminiya, Eric Bareke, Ulrich Schüller, Camelia M. Monoranu, Ronald Sträter, Kornelius Kerl, Thomas Niederstadt, Gerhard Kurlemann, Benjamin Ellezam, Zuzanna Michalak, Maria Thom, Paul J. Lockhart, Richard J. Leventer, Milou Ohm, Duncan MacGregor, David Jones, Jason Karamchandani, Celia M.T. Greenwood, Albert M. Berghuis, Susanne Bens, Reiner Siebert, Magdalena Zakrzewska, Paweł P. Liberski, Krzysztof Zakrzewski, Sanjay M. Sisodiya, Werner Paulus, Steffen Albrecht, Martin Hasselblatt, Nada Jabado, William D. Foulkes, Jacek Majewski

    Almmustuhtton 2016
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