检索结果 - Ishwar C. Verma

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  1. 1
    Recessive Mutations in ELOVL4 Cause Ichthyosis, Intellectual Disability, and Spastic Quadriplegia

    Recessive Mutations in ELOVL4 Cause Ichthyosis, Intellectual Disability, and Spastic Quadriplegia 由 Mohammed A. Aldahmesh, Jawahir Y. Mohamed, Hisham Alkuraya, Ishwar C. Verma, Ratna Dua Puri, Ayodele Alaiya, William B. Rizzo, Fowzan S. Alkuraya

    出版 2011
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  2. 2
    Unique skeletal manifestations in patients with Primrose syndrome

    Unique skeletal manifestations in patients with Primrose syndrome 由 Veronica Arora, Eyby Leon, Jullianne Diaz, Hanne Hove, Daniel R. Carvalho, Kenji Kurosawa, Naoto Nishimura, Gen Nishimura, Renu Saxena, Carlos R. Ferreira, Ratna Dua Puri, Ishwar C. Verma

    出版 2020
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  3. 3
    Transformative effect of a Humanitarian Program for individuals affected by rare diseases: building support systems and creating local expertise

    Transformative effect of a Humanitarian Program for individuals affected by rare diseases: building support systems and creating local expertise 由 Ishwar C. Verma, Amal El‐Beshlawy, Anna Tylki‐Szymańska, Ana María Martins, Yiran Duan, Tanya Collin-Histed, M. Schoneveld van der Linde, R. Mansour, Vũ Chí Dũng, Pramod K. Mistry

    出版 2022
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  4. 4
    Guidelines for screening, diagnosis and management of hemoglobinopathies

    Guidelines for screening, diagnosis and management of hemoglobinopathies 由 Kanjaksha Ghosh, Roshan Colah, VedPrakash Choudhry, Reena Das, Mamta Manglani, Nishi Madan, Renu Saxena, Dipty Jain, Neelam Marwaha, Dipika Mohanty, Malay Ghosh, Cecil Ross, Ishwar C. Verma, Sarita Agarwal, Rajendra Choudhary

    出版 2014
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  5. 5
    A data set of variants derived from 1455 clinical and research exomes is efficient in variant prioritization for early‐onset monogenic disorders in Indians

    A data set of variants derived from 1455 clinical and research exomes is efficient in variant prioritization for early‐onset monogenic disorders in Indians 由 Neethukrishna Kausthubham, Anju Shukla, Neerja Gupta, Gandham SriLakshmi Bhavani, Samarth Kulshrestha, Aneek Das Bhowmik, Amita Moirangthem, Sunita Bijarnia‐Mahay, Madhulika Kabra, Ratna Dua Puri, Kausik Mandal, Ishwar C. Verma, Stephanie Bielas, Shubha R. Phadke, Ashwin Dalal, Katta M. Girisha

    出版 2021
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  6. 6
    Organization for rare diseases India (ORDI) – addressing the challenges and opportunities for the Indian rare diseases' community

    Organization for rare diseases India (ORDI) – addressing the challenges and opportunities for the Indian rare diseases' community 由 Harsha Rajasimha, PRASANNAKUMAR BASAYYA SHIROL, Preveen Ramamoorthy, Madhuri Hegde, SANGEETA BARDE, Vijay Chandru, M. E. RAVINANDAN, Ramani Ramchandran, Kasturi Haldar, Jimmy Lin, Imran Babar, Katta M. Girisha, Sudha Srinivasan, Duraiswamy Navaneetham, Rajani Battu, RAJASHREE DEVARAKONDA, Usha Kini, Kinnimulki Vijayachandra, Ishwar C. Verma

    出版 2014
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  7. 7
    Diversity in the incidence and spectrum of organic acidemias, fatty acid oxidation disorders, and amino acid disorders in Asian countries: Selective screening vs. expanded newborn screening

    Diversity in the incidence and spectrum of organic acidemias, fatty acid oxidation disorders, and amino acid disorders in Asian countries: Selective screening vs. expanded newborn... 由 Naoaki Shibata, Yuki Hasegawa, Kenji Yamada, Hironori Kobayashi, Jamiyan Purevsuren, Yanling Yang, Vũ Chí Dũng, Nguyễn Ngọc Khánh, Ishwar C. Verma, Sunita Bijarnia‐Mahay, Dong Hwan Lee, Dau‐Ming Niu, Georg F. Hoffmann, Yosuke Shigematsu, Toshiyuki Fukao, Seiji Fukuda, Takeshi Taketani, Seiji Yamaguchi

    出版 2018
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  8. 8
    Mutations in GREB1L Cause Bilateral Kidney Agenesis in Humans and Mice

    Mutations in GREB1L Cause Bilateral Kidney Agenesis in Humans and Mice 由 Lara De Tomasi, Pierre David, Camille Humbert, Flora Silbermann, Christelle Arrondel, Frédéric Torès, Stéphane Fouquet, Audrey Desgrange, Olivier Niel, Christine Bôle‐Feysot, Patrick Nitschké, J. Roume, Marie‐Pierre Cordier, Christine Piétrement, Bertrand Isidor, Philippe Khau Van Kien, Marie Gonzalès, Marie‐Hélène Saint‐Frison, Jéléna Martinovic, Robert Novo, Juliette Piard, Christelle Cabrol, Ishwar C. Verma, Ratna Dua Puri, Hubert Journel, Jacqueline Aziza, Laurent Gavard, Marie-Hélène Saïd-Menthon, Laurence Heidet, Sophie Saunier, Marc Jeanpierre

    出版 2017
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  9. 9
    Elucidation of the phenotypic spectrum and genetic landscape in primary and secondary microcephaly

    Elucidation of the phenotypic spectrum and genetic landscape in primary and secondary microcephaly 由 Paranchai Boonsawat, Pascal Joset, Katharina Steindl, Beatrice Oneda, Laura Gogoll, Silvia Azzarello‐Burri, Frenny Sheth, Chaitanya Datar, Ishwar C. Verma, Ratna Dua Puri, Marcella Zollino, Ruxandra Bachmann‐Gagescu, Dunja Niedrist, Michael Papik, Joana Figueiro‐Silva, Rahim Masood, Markus Zweier, Dennis Kraemer, Sharyn A. Lincoln, Lance H. Rodan, Sandrine Passemard, Séverine Drunat, Alain Verloès, Anselm H. C. Horn, Heinrich Sticht, Robert Steinfeld, Barbara Plecko, Beatrice Latal, Oskar G. Jenni, Reza Asadollahi, Anita Rauch

    出版 2019
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  10. 10
    <i>LYRM7</i>mutations cause a multifocal cavitating leukoencephalopathy with distinct MRI appearance

    <i>LYRM7</i>mutations cause a multifocal cavitating leukoencephalopathy with distinct MRI appearance 由 Cristina Dallabona, Truus E. M. Abbink, Rosalba Carrozzo, Alessandra Torraco, Andrea Legati, Carola G.M. van Berkel, Marcello Niceta, Tiziana Langella, Daniela Verrigni, Teresa Rizza, Daria Diodato, Fiorella Piemonte, Eleonora Lamantea, Mingyan Fang, Jianguo Zhang, Diego Martinelli, Elsa Bevivino, Carlo Dionisi‐Vici, Adeline Vanderver, Sunny Philip, Manju A. Kurian, Ishwar C. Verma, Sunita Bijarnia‐Mahay, Sandra Jacinto, Fátima Furtado, Patrizia Accorsi, Anna Ardissone, Isabella Moroni, Ileana Ferrero, Marco Tartaglia, P Goffrini, Daniele Ghezzi, Marjo S. van der Knaap, Enrico Bertini

    出版 2016
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  11. 11
    Mutations in PIGB Cause an Inherited GPI Biosynthesis Defect with an Axonal Neuropathy and Metabolic Abnormality in Severe Cases

    Mutations in PIGB Cause an Inherited GPI Biosynthesis Defect with an Axonal Neuropathy and Metabolic Abnormality in Severe Cases 由 Yoshiko Murakami, Thi Tuyet Mai Nguyen, Nissan Vida Baratang, Praveen K. Raju, Alexej Knaus, Sian Ellard, Gabriela Jones, Baiba Lāce, Justine Rousseau, Norbert Fonya Ajeawung, Atsushi Kamei, Gaku Minase, Manami Akasaka, Nami Araya, Eriko Koshimizu, Jenneke van den Ende, Florian Erger, Janine Altmüller, Zita Krūmiņa, Jurgis Strautmanis, Inna Inashkina, Janis Stavusis, Areeg El‐Gharbawy, Jessica Sebastian, Ratna Dua Puri, Samarth Kulshrestha, Ishwar C. Verma, Esther M. Maier, Tobias B. Haack, Anil Israni, Júlia Baptista, Adam C. Gunning, Jill A. Rosenfeld, Pengfei Liu, Marieke Joosten, María Eugenia Rocha, Mais Hashem, Hesham Aldhalaan, Fowzan S. Alkuraya, Satoko Miyatake, Naomichi Matsumoto, Peter Krawitz, Elsa Rossignol, Taroh Kinoshita, Philippe M. Campeau

    出版 2019
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  12. 12
    High Incidence of Noonan Syndrome Features Including Short Stature and Pulmonic Stenosis in Patients carrying NF1 Missense Mutations Affecting p.Arg1809: Genotype–Phenotype Correlation

    High Incidence of Noonan Syndrome Features Including Short Stature and Pulmonic Stenosis in Patients carrying NF1 Missense Mutations Affecting p.Arg1809: Genotype–Phenotype Correla... 由 Kitiwan Rojnueangnit, Jing Xie, Alicia Gomes, Angela Sharp, Tom Callens, Yunjia Chen, Ying Liu, J. Nicholas Cochran, Mary‐Alice Abbott, Joan Atkin, Dusica Babovic‐Vuksanovic, Christopher Barnett, Melissa Crenshaw, Dennis W. Bartholomew, Lina Basel, Gary A. Bellus, Shay Ben‐Shachar, Martin G. Bialer, David Bick, Bruce Blumberg, Fanny Cortés, Karen L. David, Anne Destrèe, Anna Duat Rodríguez, Dawn Earl, Luis Escobar, Marthanda Eswara, Begoña Ezquieta, Ian M. Frayling, Moshe Frydman, Kathy Gardner, Karen W. Gripp, Concepción Hernández‐Chico, Kurt Heyrman, Jennifer Ibrahim, Sandra Janssens, Beth Keena, Isabel Llano‐Rivas, Kathy Leppig, Marie McDonald, Vinod K. Misra, Jennifer Mulbury, Vinodh Narayanan, Naama Orenstein, Patricia Galvin‐Parton, Hélio Pedro, Enikö K. Pivnick, Cynthia M. Powell, Linda M. Randolph, Salmo Raskin, Jordi Rosell, Karol Rubin, Margretta R. Seashore, Christian P. Schaaf, Angela E. Scheuerle, Meredith Schultz, Elizabeth K. Schorry, Rhonda E. Schnur, Elizabeth Siqveland, Amanda Tkachuk, James H. Tonsgard, Meena Upadhyaya, Ishwar C. Verma, Stephanie E Wallace, Charles A. Williams, Elaine H. Zackai, Jonathan Zonana, Conxi Lázaro, Kathleen Claes, Bruce R. Korf, Yolanda Martín, Eric Legius, Ludwine Messiaen

    出版 2015
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  13. 13
    <i>KMT2B</i>-related disorders: expansion of the phenotypic spectrum and long-term efficacy of deep brain stimulation

    <i>KMT2B</i>-related disorders: expansion of the phenotypic spectrum and long-term efficacy of deep brain stimulation 由 Laura Cif, Diane Demailly, Jean‐Pierre Lin, Katy Barwick, Mario Sa, Lucia Abela, Sony Malhotra, W.K. Chong, Dora Steel, Alba Sanchis-Juan, Adeline Ngoh, Natalie Trump, Esther Meyer, Xavier Vasques, Julia Rankin, Meredith W Allain, Carolyn Applegate, Sanaz Attaripour Isfahani, Julien Baleine, Bettina Balint, Jennifer A. Bassetti, Emma L. Baple, Kailash P. Bhatia, Catherine Blanchet, Lydie Bürglen, Gilles Cambonie, Emilie Chan Seng, Sandra Chantot‐Bastaraud, Fabienne Cyprien, Christine Coubes, Vincent d’Hardemare, Asif Doja, Nathalie Dorison, Diane Doummar, Marisela Dy-Hollins, Ellyn Farrelly, David Fitzpatrick, Conor Fearon, Elizabeth L. Fieg, Brent L. Fogel, Eva Forman, Rachel Fox, William A. Gahl, Serena Galosi, Victoria González, Tracey D. Graves, Allison Gregory, Mark Hallett, Harutomo Hasegawa, Susan J. Hayflick, Ada Hamosh, Marie Hully, Sandra Jansen, Suh Young Jeong, Joel B. Krier, Sidney Krystal, Kishore R. Kumar, Chloé Laurencin, Hane Lee, Gaëtan Lesca, Laurence Lion François, Timothy Lynch, Neil Mahant, Julián A. Martínez-Agosto, Christophe Milési, Kelly A. Mills, M. Mondain, Hugo Morales‐Briceño, John R. Østergaard, Swasti Pal, J. Carl Pallais, Frédérique Pavillard, Pierre-Francois Perrigault, Andrea Petersen, Gustavo Polo, Gaëtan Poulen, Tuula Rinne, Thomas Roujeau, Caleb Rogers, Agathe Roubertie, Michelle Sahagian, Élise Schaefer, Laila Selim, Richard Selway, Nutan Sharma, Rebecca Signer, Ariane Soldatos, David A. Stevenson, Fiona Stewart, Michel Tchan, Ishwar C. Verma, Bert B A de Vries, Jenny L. Wilson, Derek A. Wong, Raghda Mohamed Hesham Zaitoun, Dolly Zhen, Anna Znaczko, Russell C. Dale, Claudio M. de Gusmão, Jennifer Friedman

    出版 2020
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  14. 14
    Worldwide experience of homozygous familial hypercholesterolaemia: retrospective cohort study

    Worldwide experience of homozygous familial hypercholesterolaemia: retrospective cohort study 由 Tycho R. Tromp, Merel L. Hartgers, G. Kees Hovingh, Antonio J. Vallejo‐Vaz, Kausik K. Ray, Handrean Soran, Tomáš Freiberger, Stefano Bertolini, Mariko Harada‐Shiba, Dirk Blom, Frederick J. Raal, Marina Cuchel, Tycho R. Tromp, Merel L. Hartgers, G. Kees Hovingh, Antonio J. Vallejo‐Vaz, Kausik K. Ray, Handrean Soran, Tomáš Freiberger, Stefano Bertolini, Mariko Harada‐Shiba, Jing Pang, Gerald F. Watts, Susanne Greber‐Platzer, Martin Mäser, Thomas M. Stulnig, Christoph Ebenbichler, Khalid Bin Thani, David Cassiman, Olivier Descamps, Daisy Rymen, Peter Witters, Raúl D. Santos, Liam R. Brunham, Gordon A. Francis, Jacques Genest, Robert A. Hegele, Brooke A. Kennedy, Isabelle L. Ruel, Mark Sherman, Long Jiang, Luya Wang, Željko Reiner, V. Bláha, R Češka, Jana Dvořáková, Lubomir Dlouhy, Pavel Hořák, Vladimír Soška, Lukáš Tichý, Robin Urbánek, H Vaverková, Michal Vráblík, Stanislav Zemek, Lukáš Zlatohlávek, Sameh Emil, Tarek Naguib, Ashraf Reda, Sophie Béliard, Éric Bruckert, Antonio Gallo, Moses Elisaf, Genovefa Kolovou, Hofit Cohen, Ronen Durst, Eldad J. Dann, Avishay Elis, Osama Hussein, Eran Leitersdorf, Daniel Schurr, Nitika Setia, Ishwar C. Verma, Mohammed Alareedh, Mutaz Al-Khnifsawi, Ali Fawzi Abdalsahib Al-Zamili, Sabah H. Rhadi, Foaad Shaghee, Marcello Arca, Maurizio Averna, Andrea Bartuli, Marco Bucci, Paola Sabrina Buonuomo, Paolo Calabrò, S. Calandra, Manuela Casula, Alberico L. Catapano, Angelo B. Cefalù, Arrigo F.G. Cicero, Sergio D’Addato, Laura D’Erasmo, Alessia Di Costanzo, Tommaso Fasano, Marta Gazzotti, Antonina Giammanco, Gabriella Iannuzzo, Anastasia Ibba, Emanuele Alberto Negri, Andrea Pasta, Chiara Pavanello, Livia Pisciotta

    出版 2022
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