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  1. 201
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    Understanding the genetic and molecular pathogenesis of Friedreich's ataxia through animal and cellular models by Alain Martelli, Marek Napierala, Hélène Puccio

    Published 2012
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  2. 202
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    Associação entre os polimorfismos HaeIII e MspI do gene para o receptor alfa de estrogênio e densidade mamográfica em mulheres após a menopausa Association between HaeIII and... by Eduardo Henrique de Moura Ramos, Cláudio Kemp, Ismael Dale Cotrim Guerreiro da Silva

    Published 2006
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  3. 203
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    Polimorfismo do gene do receptor de progesterona (PROGINS) em mulheres com câncer de mama: estudo caso-controle Polymorphism in genes of the progesterone receptor (PROGINS) in wom... by José Juvenal Linhares, Ismael Dale Cotrim Guerreiro da Silva, Naiara Correa Nogueira de Souza, Emmanuelle Coelho Noronha, Odair Ferraro, Fausto Farah Baracat

    Published 2005
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  4. 204
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    DHA and Its Elaborated Modulation of Antioxidant Defenses of the Brain: Implications in Aging and AD Neurodegeneration by Mario Díaz, Fátima Mesa-Herrera, Raquel Marín

    Published 2021
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  5. 205
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    A rare mutation causing autosomal dominant STAT1 deficiency in a South African multiplex kindred with disseminated BCG infection by Leonore Greybe, Daniel Leung, Nicole Wieselthaler, David M le Roux, Koon Wing Chan, Yu Lung Lau, Brian Eley

    Published 2023
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  6. 206
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    Focal dermal hypoplasia: report of a Taiwanese case by Meng-Chi Wu, Sheau-Chiou Chao, Julia Yu-Yun Lee

    Published 2011
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  7. 207
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    Creutzfeldt-Jacob Illness and Other Prion Diseases (Review) by José L Colina B, Gabriela Blanchard

    Published 2003
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  8. 208
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    Assessment of the feasibility of exon 45-55 multiexon skipping for duchenne muscular dystrophy by van Ommen Gert-Jan B, van Deutekom Judith CT, de Winter Christa L, van Vliet Laura, Aartsma-Rus Annemieke

    Published 2008
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  9. 209
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    X-linked recessive myotubular myopathy with mutations by Young-Mi Han, Kyoung-Ah Kwon, Yun-Jin Lee, Sang-Ook Nam, Kyung-Hee Park, Shin-Yun Byun, Gu-Hwan Kim, Han-Wook Yoo

    Published 2013
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  10. 210
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    A de novo synonymous variant in EFTUD2 disrupts normal splicing and causes mandibulofacial dysostosis with microcephaly: case report by Arthur Jacob, Jennifer Pasquier, Raphael Carapito, Frédéric Auradé, Anne Molitor, Philippe Froguel, Khalid Fakhro, Najeeb Halabi, Géraldine Viot, Seiamak Bahram, Arash Rafii

    Published 2020
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  11. 211
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    Emerging antioxidant therapies in Friedreich's ataxia by Fred Jonathan Edzeamey, Zenouska Ramchunder, Charareh Pourzand, Charareh Pourzand, Sara Anjomani Virmouni

    Published 2024
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  12. 212
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    Evolutionary Insights into IL17A in Lagomorphs by Fabiana Neves, Joana Abrantes, Tereza Almeida, Paulo P. Costa, Pedro J. Esteves

    Published 2015
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  13. 213
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    No Evidence for Association between Amelogenesis Imperfecta and Candidate Genes by M Ghandehari Motlagh, M Bahaminpour, P Aref, SJ Pourhashemi, M Shahrabi, AR Nazarian, R Raoofian, F Mahbubinejad, M Heidari

    Published 2009
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  14. 214
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    Prenatal diagnosis of holoprosencephaly associated with Smith-Lemli-Opitz syndrome (SLOS) in a 46,XX fetus by André Travessa, Patrícia Dias, Pedro Rocha, Ana Berta Sousa

    Published 2017
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  15. 215
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    Effect of the OPHN1 novel variant c.1025+1 G>A on RNA splicing: insights from a minigene assay by Fei Yang, Minghui Wang

    Published 2024
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  16. 216
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    No Evidence for Association between Amelogenesis Imperfecta and Candidate Genes by M Ghandehari Motlagh, M Bahaminpour, P Aref, SJ Pourhashemi, M Shahrabi, AR Nazarian, R Raoofian, F Mahbubinejad, M Heidari

    Published 2009
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  17. 217
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    A novel mutation within gene in a young girl with hypophosphatemic rickets and review of literature by Chong Kun Cheon, Hoon Sang Lee, Su Yung Kim, Min Jung Kwak, Gu-Hwan Kim, Han-Wook Yoo

    Published 2014
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  18. 218
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    Craniofacial, dental, and molecular features of Pyle disease in a South African child by Manogari Chetty, Imaan Roomaney, Chandré Oosterwyk, Noluthando Manyisa, Christian Domilongo Bope, Gloudi Agenbag, Ambroise Wonkam

    Published 2022
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  19. 219
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    Identification of a New Integration Site and Study on Site-Specific Integration in CHO-K1 Cells by Hong Liu, Wei Zhang, Liping Xie, Youjia Hu

    Published 2023
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  20. 220
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    Papillon-Lefevre Syndrome by L. Izakovičová Hollá, A. Fassmann, M. Kukletová, V. Sazmová

    Published 2009
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