نتائج البحث - Sheela Nampoothiri

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  1. 1
    Bardet–Biedl syndrome: Genetics, molecular pathophysiology, and disease management

    Bardet–Biedl syndrome: Genetics, molecular pathophysiology, and disease management حسب Sathya Priya, Sheela Nampoothiri, Parveen Sen, S Sripriya

    منشور في 2016
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  2. 2
    Musculocontractural Ehlers-Danlos Syndrome (former EDS type VIB) and adducted thumb clubfoot syndrome (ATCS) represent a single clinical entity caused by mutations in the dermatan-4-sulfotransferase 1 encoding CHST14 gene

    Musculocontractural Ehlers-Danlos Syndrome (former EDS type VIB) and adducted thumb clubfoot syndrome (ATCS) represent a single clinical entity caused by mutations in the dermatan-... حسب Fransiska Malfait, Delfien Syx, Philip Vlummens, Sofie Symoens, Sheela Nampoothiri, Trinh Hermanns‐Lê, Lut Van Laer, Anne De Paepe

    منشور في 2010
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    Artigo
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  3. 3
    Molecular and clinical studies in 107 Noonan syndrome affected individuals with PTPN11 mutations

    Molecular and clinical studies in 107 Noonan syndrome affected individuals with PTPN11 mutations حسب Jeevana Praharsha Athota, Meenakshi Bhat, Sheela Nampoothiri, Kalpana Gowrishankar, Sanjeeva Ghanti Narayanachar, Vinuth N. Puttamallesh, Mohammed Oomer Farooque, Swathi Shetty

    منشور في 2020
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    Artigo
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  4. 4
    Helical mutations in type I collagen that affect the processing of the amino-propeptide result in an Osteogenesis Imperfecta/Ehlers-Danlos Syndrome overlap syndrome

    Helical mutations in type I collagen that affect the processing of the amino-propeptide result in an Osteogenesis Imperfecta/Ehlers-Danlos Syndrome overlap syndrome حسب Fransiska Malfait, Sofie Symoens, Nathalie Goemans, Yolanda Gyftodimou, Eva Holmberg, Vanesa López‐González, Geert Mortier, Sheela Nampoothiri, Michael B. Petersen, Anne De Paepe

    منشور في 2013
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    Artigo
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  5. 5
    Mutations in phospholipase DDHD2 cause autosomal recessive hereditary spastic paraplegia (SPG54)

    Mutations in phospholipase DDHD2 cause autosomal recessive hereditary spastic paraplegia (SPG54) حسب Michael Gonzalez, Sheela Nampoothiri, Cornelia Kornblum, Andrés Caballero-Oteyza, Jochen Walter, Ioanna Konidari, William Hulme, Fiorella Speziani, Lüdger Schöls, Stephan Züchner, Rebecca Schüle

    منشور في 2013
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  6. 6
    eP208: GSD IX natural history and novel liver disease severity score: Multicenter international collaboration uncovers longitudinal trends in liver disease severity

    eP208: GSD IX natural history and novel liver disease severity score: Multicenter international collaboration uncovers longitudinal trends in liver disease severity حسب Anna K. Paschall, Alisha Mavis, Aruna Rikhi, Vikrant Sood, Gilda Porta, Sheela Nampoothiri, Neerja Gupta, José E. Abdenur, Andrew J. Muir, Priya S. Kishnani

    منشور في 2022
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    Artigo
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  7. 7
    Characterization of a distinct lethal arteriopathy syndrome in twenty-two infants associated with an identical, novel mutation in FBLN4 gene, confirms fibulin-4 as a critical determinant of human vascular elastogenesis

    Characterization of a distinct lethal arteriopathy syndrome in twenty-two infants associated with an identical, novel mutation in FBLN4 gene, confirms fibulin-4 as a critical deter... حسب Mahesh Kappanayil, Sheela Nampoothiri, R. Kannan, Marjolijn Renard, Paul Coucke, Fransiska Malfait, Swapna Menon, Hiran K. Ravindran, Renu Kurup, Muhammad Faiyaz‐Ul‐Haque, Krishna Kumar, Anne De Paepe

    منشور في 2012
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    Artigo
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  8. 8
    Phenotype and natural history in Marshall–Smith syndrome

    Phenotype and natural history in Marshall–Smith syndrome حسب Adam Shaw, Inge D.C. Van Balkom, Mislen Bauer, Trevor Cole, Marie‐Ange Delrue, Arie van Haeringen, Eva Holmberg, Samantha J.L. Knight, Geert Mortier, Sheela Nampoothiri, Silvija Pušeljić, Martin Zenker, Valérie Cormier‐Daire, Raoul C. M. Hennekam

    منشور في 2010
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    Artigo
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  9. 9
    Chondrodysplasia and Abnormal Joint Development Associated with Mutations in IMPAD1, Encoding the Golgi-Resident Nucleotide Phosphatase, gPAPP

    Chondrodysplasia and Abnormal Joint Development Associated with Mutations in IMPAD1, Encoding the Golgi-Resident Nucleotide Phosphatase, gPAPP حسب Lisenka E.L.M. Vissers, Ekkehart Lausch, Sheila Unger, Belinda Campos‐Xavier, Christian Gilissen, Antonio Rossi, Marisol del Rosario, Hanka Venselaar, Ute Knoll, Sheela Nampoothiri, Mohandas Nair, Jürgen W. Spranger, Han G. Brunner, Luisa Bonafé, Joris A. Veltman, Bernhard Zabel, Andrea Superti‐Furga

    منشور في 2011
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    Artigo
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  10. 10
    Distinct Effects of Allelic NFIX Mutations on Nonsense-Mediated mRNA Decay Engender Either a Sotos-like or a Marshall-Smith Syndrome

    Distinct Effects of Allelic NFIX Mutations on Nonsense-Mediated mRNA Decay Engender Either a Sotos-like or a Marshall-Smith Syndrome حسب Valérie Malan, Diana Rajan, Sophie Thomas, Adam Shaw, H. Louis Dit Picard, Valérie Layet, Marianne Till, Arie van Haeringen, Geert Mortier, Sheela Nampoothiri, Silvija Pušeljić, Laurence Legeai‐Mallet, Nigel P. Carter, Michel Vekemans, Arnold Münnich, Raoul C. M. Hennekam, Laurence Colleaux, Valérie Cormier‐Daire

    منشور في 2010
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  11. 11
    Mutations in CUL7, OBSL1 and CCDC8 in 3-M syndrome lead to disordered growth factor signalling

    Mutations in CUL7, OBSL1 and CCDC8 in 3-M syndrome lead to disordered growth factor signalling حسب Dan Hanson, Philip Murray, Tessa Coulson, Amit Sud, Ajibola Omokanye, Emily Stratta, Faezeh Sakhinia, C Bonshek, Laura C. Wilson, Emma Wakeling, Samia A. Temtamy, Mona Aglan, Elisabeth Rosser, Sahar Mansour, Atilano Carcavilla, Sheela Nampoothiri, Waqas Khan, Indraneel Banerjee, Kate Chandler, Graeme Black, Peter Clayton

    منشور في 2012
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  12. 12
    Gaucher disease: single gene molecular characterization of one-hundred Indian patients reveals novel variants and the most prevalent mutation

    Gaucher disease: single gene molecular characterization of one-hundred Indian patients reveals novel variants and the most prevalent mutation حسب Jayesh Sheth, Riddhi Bhavsar, Mehul Mistri, Dhairya Pancholi, Ashish Bavdekar, Ashwin Dalal, Prajnya Ranganath, Katta M. Girisha, Anju Shukla, Shubha R. Phadke, Ratna Dua Puri, Inusha Panigrahi, Anupriya Kaur, Mamta Muranjan, Manisha Goyal, Radha Ramadevi, Raju Shah, Sheela Nampoothiri, Sumita Danda, Chaitanya Datar, Seema Kapoor, Seema S. Bhatwadekar, Frenny Sheth

    منشور في 2019
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  13. 13
    The benefits and challenges of family genetic testing in rare genetic diseases—lessons from Fabry disease

    The benefits and challenges of family genetic testing in rare genetic diseases—lessons from Fabry disease حسب Dominique P. Germain, Sergey Moiseev, Fernando Suárez‐Obando, Faisal Al Ismaili, Huda Al Khawaja, Gheona Altarescu, Fellype Carvalho Barreto, F. Haddoum, Fatemeh Hadipour, И. А. Максимова, Mirelle Kramis, Sheela Nampoothiri, Khanh Ngoc Nguyen, Dau‐Ming Niu, Juan Politei, Long‐Sun Ro, Dũng Chí Vũ, Nan Chen, Sergey I. Kutsev

    منشور في 2021
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  14. 14
    FAM111A Mutations Result in Hypoparathyroidism and Impaired Skeletal Development

    FAM111A Mutations Result in Hypoparathyroidism and Impaired Skeletal Development حسب Sheila Unger, Maria W. Górna, Antony Le Béchec, Sónia do Vale-Pereira, Maria Francesca Bedeschi, Stefan Geiberger, Giedre Grigelioniené, Eva Horemuzova, Faustina Lalatta, Ekkehart Lausch, Cinzia Magnani, Sheela Nampoothiri, Gen Nishimura, Duccio Petrella, Francisca Rojas, Akari Utsunomiya, Bernhard Zabel, Sylvain Pradervand, Keith Harshman, Belinda Campos‐Xavier, Luisa Bonafé, Giulio Superti‐Furga, Brian J. Stevenson, Andrea Superti‐Furga

    منشور في 2013
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  15. 15
    Genotype and phenotype in patients with Noonan syndrome and a RIT1 mutation

    Genotype and phenotype in patients with Noonan syndrome and a RIT1 mutation حسب Karim Kouz, Christina Lißewski, Stephanie Spranger, Diana Mitter, Angelika Rieß, Vanesa López‐González, Sabine Lüttgen, Hatip Aydın, Florian von Deimling, Christina Evers, Andreas Hahn, Maja Hempel, Ulrike Issa, Anne‐Karin Kahlert, A. Lieb, Pablo Villavicencio‐Lorini, María Juliana Ballesta‐Martínez, Sheela Nampoothiri, Angela Ovens‐Raeder, Alena Puchmajerová, Robin Satanovskij, Heide Seidel, Stephan Unkelbach, Bernhard Zabel, Kerstin Kutsche, Martin Zenker

    منشور في 2016
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  16. 16
    Loss of MTX2 causes mandibuloacral dysplasia and links mitochondrial dysfunction to altered nuclear morphology

    Loss of MTX2 causes mandibuloacral dysplasia and links mitochondrial dysfunction to altered nuclear morphology حسب Sahar Elouej, Karim Harhouri, Morgane Le Mao, Geneviève Baujat, Sheela Nampoothiri, Hülya Kayserili, Nihal Al Menabawy, Laila Selim, Arianne Llamos Paneque, Christian Kubisch, Davor Lessel, Robert Rubinsztajn, Chayki Charar, Catherine Bartoli, Coraline Airault, Jean‐François Deleuze, Agnès Rötig, Peter Bauer, Catarina Pereira, Abigail Loh, Nathalie Escande‐Beillard, Antoine Muchir, Lisa Martino, Yosef Gruenbaum, Song-Hua Lee, Philippe Manivet, Guy Lenaers, Bruno Reversade, Nicolas Lévy, Annachiara De Sandre‐Giovannoli

    منشور في 2020
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  17. 17
    Mutations in CSPP1 Cause Primary Cilia Abnormalities and Joubert Syndrome with or without Jeune Asphyxiating Thoracic Dystrophy

    Mutations in CSPP1 Cause Primary Cilia Abnormalities and Joubert Syndrome with or without Jeune Asphyxiating Thoracic Dystrophy حسب Karina Tuz, Ruxandra Bachmann‐Gagescu, Diana R. O’Day, Kiet Hua, Christine R. Isabella, Ian G. Phelps, Allan E. Stolarski, Brian J. O’Roak, Jennifer C. Dempsey, Charles Marques Lourenço, Abdulrahman Alswaid, Carsten G. Bönnemann, Līvija Medne, Sheela Nampoothiri, Zornitza Stark, Richard J. Leventer, Meral Topçu, Ali Cansu, Sujatha Jagadeesh, Stephen Done, Gisele E. Ishak, Ian Glass, Jay Shendure, Stephan C. F. Neuhauss, Chad R. Haldeman‐Englert, Dan Doherty, Russell J. Ferland

    منشور في 2013
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  18. 18
    Novel and recurrent TRPV4 mutations and their association with distinct phenotypes within the TRPV4 dysplasia family

    Novel and recurrent TRPV4 mutations and their association with distinct phenotypes within the TRPV4 dysplasia family حسب Jin Dai, O.-H. Kim, T.-J. Cho, Maren Schmidt‐Rimpler, H. Tonoki, Kazuharu Takikawa, Nobuhiko Haga, K. Miyoshi, Hiroshi Kitoh, Won Joon Yoo, In Ho Choi, Hae‐Ryong Song, Dong‐Kyu Jin, H. T. Kim, Hotaka Kamasaki, Paola Bianchi, Giedre Grigelioniené, Sheela Nampoothiri, Masahiro Minagawa, Shinichirou Miyagawa, Toshiyuki Fukao, Carlo Marcelis, M. C. E. Jansweijer, R Hennekam, F. Bedeschi, Aki Mustonen, Qing Jiang, Hirofumi Ohashi, Tatsuya Furuichi, Sheila Unger, Bernhard Zabel, Ekkehart Lausch, Andrea Superti‐Furga, Gen Nishimura, Shiro Ikegawa

    منشور في 2010
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  19. 19
    <i>WRN</i>Mutation Update: Mutation Spectrum, Patient Registries, and Translational Prospects

    <i>WRN</i>Mutation Update: Mutation Spectrum, Patient Registries, and Translational Prospects حسب Koutaro Yokote, Sirisak Chanprasert, Lin Lee, Katharina Eirich, Minoru Takemoto, Aki Watanabe, Naoko Koizumi, Davor Lessel, Takayasu Mori, Fuki M. Hisama, Paula D. Ladd, Brad Angle, Hagit Baris, Kıvanç Çefle, Şükrü Palanduz, Şükrü Öztürk, Antoinette Chateau, Kentaro Deguchi, T.K.M Easwar, Antonio Federico, Amy Fox, Theresa A. Grebe, Beverly N. Hay, Sheela Nampoothiri, Karen Seiter, Elizabeth A. Streeten, Raúl E. Piña-Aguilar, Gemma Poke, Martin Poot, Renata Posmyk, George M. Martin, Christian Kubisch, Detlev Schindler, Junko Oshima

    منشور في 2016
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  20. 20
    Non-coding deletions identify Maenli lncRNA as a limb-specific En1 regulator

    Non-coding deletions identify Maenli lncRNA as a limb-specific En1 regulator حسب Lila Allou, Sara Balzano, Andreas Magg, Mathieu Quinodoz, Béryl Royer‐Bertrand, Robert Schöpflin, Wing-Lee Chan, Carlos E. Speck‐Martins, Daniel R. Carvalho, Luciano Farage, Charles Marques Lourenço, Regina Albuquerque, Srilakshmi Rajagopal, Sheela Nampoothiri, Belinda Campos‐Xavier, Carole Chiesa, Florence Niel‐Bütschi, Lars Wittler, Bernd Timmermann, Malte Spielmann, Michael I. Robson, Alessa R. Ringel, Verena Heinrich, Giulia Cova, Guillaume Andrey, Cesar A. Prada‐Medina, Rosanna Pescini Gobert, Sheila Unger, Luisa Bonafé, Phillip Grote, Carlo Rivolta, Stefan Mundlos, Andrea Superti‐Furga

    منشور في 2021
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