Zoekresultaten - "mutation"

Detection of Rare and Unknown Mutations in ß- tathalassemia Traits in Iran door M Habibi Roudknar, H Najmabadi, P Derakhshandeh, DD Farhud

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The Adaptive Response and Protection against Heritable Mutations and Fetal Malformation door D. R. Boreham, J.-A. Dolling, C. Somers, J. Quinn, R. E. J. Mitchel

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Braf protein mutation and its significancy within patients with melanoma door Julia Kuchnicka, Aleksandra Kuchnicka, Katarzyna Kosz, Klaudia Remjasz, Natalia Zarankiewicz, Martyna Zielińska, Klaudia Sapuła, Jakub Aleksandrowicz, Wojciech Siedlecki

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PAX 2 Mutation in an Indian Family with Renal Coloboma Syndrome door Kumar Digvijay, Grazia Maria Virzi, Diego Pomarè Montin, Lucas Gobetti da Luz, Maryam Momeni Taramsari, Ashwani Gupta, Manish Malik, Anurag Gupta, Vinant Bhargava, Meenakshi Verma, Claudio Ronco, Devinder Singh Rana, Anil Kumar Bhalla

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Dutch-beta thalassemia: A rare mutation from India door Nirali Sanghvi, Priyanka Aggarwal, Vineeta Singh, Vineeta Gupta

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Multifocal BRAFV600E-Mutated Melanoma in situ on the Foot door Eimei Iwama, Taku Fujimura, Yoshiyuki Kusakari, Takahiro Haga, Setsuya Aiba

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Enhanced production of nattokinase from UV mutated Bacillus sp. door V. Mohanasrinivasan, C. Subathra Devi, Ritusree Biswas, Falguni Paul, Mohor Mitra, E. Selvarajan, V. Suganthi

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GCM2 mutation in primary hyperparathyroidism - A Case Report door Zuzanna Chmielowiec, Magdalena Pach, Natalia Wierzejska, Agnieszka Fugas, Karolina Smykiewicz, Aneta Michalczewska, Agnieszka Nowak, Alicja Partyka, Mariola Dziedzic, Justyna Dobrzańska

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Segmental hypopigmented acneiform nevus with FGFR2 gene mutation door Yongyi Xie, Baoyi Liu, Zhouwei Wu

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Hypophosphatasia: A Novel Mutation Associated with an Atypical Newborn Presentation door Roger Esmel-Vilomara, Susana Hernández, Ariadna Campos-Martorel, Eva González-Roca, Diego Yeste, Félix Castillo

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Severe CMD with Novel Mutation in Lamin A/C Gene door J Gordon Millichap

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Transient neonatal diabetes mellitus caused by a gene mutation door Jung Hyun Kong, June Bum Kim

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Alagille Syndrome: A Novel Mutation in JAG1 Gene door Rita Fischetto, Viviana V. Palmieri, Maria E. Tripaldi, Alberto Gaeta, Angela Michelucci, Maurizio Delvecchio, Ruggiero Francavilla, Paola Giordano

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Prevalence Study of GJB2 Gene Mutations in Iranian Ethnics door Kimia Kahrizi, Niloufar Bazzaz-Zadegan, Marzieh Mohseni, Noushin Nik-Zaat, Khadijeh Jalalvand, Yaser Riaz-el Hosseini, Yousef Shafeghati, Sanaz Arzhangi, Khalil Javan, Hosein Najmabadi

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A systematic review of genetic mutations in pulmonary arterial hypertension door Gerardo Garcia-Rivas, Carlos Jerjes-Sánchez, David Rodriguez, José Garcia-Pelaez, Victor Trevino

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RBM20 mutations in left ventricular non‐compaction cardiomyopathy door Anna Gaertner, Bärbel Klauke, Andreas Brodehl, Hendrik Milting

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Rubinstein-Taybi Syndrome: spectrum of <it>CREBBP </it>mutations in Italian patients door Uzielli Maria, Divizia Maria T, Atzeri Francesca, Giordano Lucio, Colapietro Patrizia, Manzini Stefano, Mottadelli Federica, Castronovo Paola, Gervasini Cristina, Milani Donatella, Bentivegna Angela, Neri Giovanni, Bedeschi Maria F, Faravelli Francesca, Selicorni Angelo, Larizza Lidia

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Study of EGFR mutations in head and neck squamous cell carcinomas door Gurpreet Kaur, Deepika Phogat, Venkatesan Manu

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An overview of genes and mutations associated with Chlamydiae species' resistance to antibiotics door Ichrak Benamri, Maryame Azzouzi, Kholoud Sanak, Ahmed Moussa, Fouzia Radouani

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Phenotypic Variability with SLURP1 Mutations and Diffuse Palmoplantar Keratoderma door Liisa Harjama, Kaisa Kettunen, Outi Elomaa, Elisabet Einarsdottir, Hannele Heikkilä, Sirpa Kivirikko, Katriina Lappalainen, Janna Saarela, Caroline Alby, Annamari Ranki, Juha Kere, Smail Hadj-Rabia, Katariina Hannula-Jouppi

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