Kết quả tìm kiếm - Veeramani Preethish‐Kumar
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1
Utility of Immunohistochemistry and Western Blot in Profiling Clinically Suspected Cases of Congenital Muscular Dystrophy Bằng Mhatre, Radhika, Sekar, Deepha, Ponmalar, Jessiena, Nagappa, Madhu, Veeramani, Preethish-Kumar, Polavarapu, Kiran, Vengalil, Seena, Atchayaram, Nalini, Narayanappa, Gayathri
Được phát hành 2021Text -
2
Duchenne Muscular Dystrophy and Becker Muscular Dystrophy Confirmed by Multiplex Ligation-Dependent Probe Amplification: Genotype-Phenotype Correlation in a Large Cohort Bằng Seena Vengalil, Veeramani Preethish‐Kumar, Kiran Polavarapu, Manjunath Mahadevappa, Sekar Deepha, Meera Purushottam, Priya Treesa Thomas, Saraswathi Nashi, Atchayaram Nalini
Được phát hành 2017Artigo -
3
MACF1 links Rapsyn to microtubule- and actin-binding proteins to maintain neuromuscular synapses Bằng Julien Oury, Yun Liu, Ana Töpf, S. Todorović, Esthelle Hoedt, Veeramani Preethish‐Kumar, Thomas A. Neubert, Weichun Lin, Hanns Lochmüller, Steven J. Burden
Được phát hành 2019Artigo -
4
Brain and Spinal Cord Lesions in Leprosy: A Magnetic Resonance Imaging–Based Study Bằng Kiran Polavarapu, Veeramani Preethish‐Kumar, Seena Vengalil, Saraswati Nashi, Mallika Lavania, Kajari Bhattacharya, Anita Mahadevan, Thagadur Chickabasaviah Yasha, Jitender Saini, Utpal Sengupta, Shumyla Jabeen, Bevinahalli N. Nandeesh, Itu Singh, Niranjan Prakash Mahajan, Chevula Pradeep-Chandra-Reddy, Gareth Parry, Atchayaram Nalini
Được phát hành 2019Artigo -
5
Clinical and genetic characterisation of a large Indian congenital myasthenic syndrome cohort Bằng Kiran Polavarapu, B. Sunitha, Ana Töpf, Veeramani Preethish‐Kumar, Rachel Thompson, Seena Vengalil, Saraswati Nashi, Mainak Bardhan, Sai Bhargava Sanka, Akshata Huddar, Gopikrishnan Unnikrishnan, Gautham Arunachal, Manu Santhappan Girija, Anna Porter, Yoshiteru Azuma, Paulo José Lorenzoni, Dipti Baskar, Ram Murthy Anjanappa, Madassu Keertipriya, Hansashree Padmanabh, Ganaraja Valakunja Harikrishna, Steven Laurie, Leslie Matalonga, Rita Horváth, Atchayaram Nalini, Hanns Lochmüller
Được phát hành 2023Artigo -
6
TEFM variants impair mitochondrial transcription causing childhood-onset neurological disease Bằng Lindsey Van Haute, Emily O’Connor, Héctor Díaz-Maldonado, Benjamin Munro, Kiran Polavarapu, Daniella H. Hock, Gautham Arunachal, Alkyoni Athanasiou‐Fragkouli, Mainak Bardhan, Magalie Barth, Dominique Bonneau, Nicola Brunetti‐Pierri, Gerarda Cappuccio, Nikeisha J. Caruana, Natalia Dominik, Himanshu Goel, Guy Helman, Henry Houlden, Guy Lenaers, Karine Mention, David Murphy, Bevinahalli N. Nandeesh, Catarina Olimpio, Christopher A. Powell, Veeramani Preethish‐Kumar, Vincent Procaccio, Rocío Rius, Pedro Rebelo‐Guiomar, Cas Simons, Seena Vengalil, Maha S. Zaki, Alban Ziegler, David R. Thorburn, David A. Stroud, Reza Maroofian, John Christodoulou, Claes M. Gustafsson, Atchayaram Nalini, Hanns Lochmüller, Michal Minczuk, Rita Horváth
Được phát hành 2023Artigo
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Các môn học liên quan
Biology
Gene
Genetics
Medicine
Cell biology
Phenotype
Acetylcholine receptor
Anatomy
Biochemistry
Brainstem
Central nervous system
Cohort
Congenital myasthenic syndrome
DNAJA3
Duchenne muscular dystrophy
Dystrophin
Endocrinology
Exome sequencing
Exon
Gene duplication
Gene expression
Genetic testing
Genotype
Genotype-phenotype distinction
Internal medicine
Lesion
Linguistics
Magnetic resonance imaging
Mitochondrial DNA
Mitochondrial disease