Výsledky vyhledávání - Chitra Prasad
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CHARGE syndrome Autor Kim Blake, Chitra Prasad
Vydáno 2006Revisão -
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Retraction notice to “Performance comparison of vibration devices on orthodontic tooth movement - A systematic review and meta-analysis”[J Oral Biol Craniofac Res. 10 (2020) 814–82... Autor Keerthana, Pasupureddi, Diddige, Rajasri, Chitra, Prasad
Vydáno 2021Text -
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Heterozygous De Novo UBTF Gain-of-Function Variant Is Associated with Neurodegeneration in Childhood Autor Simon Edvardson, Claudia M. Nicolae, Pankaj B. Agrawal, Cyril Mignot, Katelyn Payne, Asuri N. Prasad, Chitra Prasad, Laurie S. Sadler, Caroline Nava, Thomas E. Mullen, Amber Begtrup, Berivan Baskin, Zöe Powis, Avraham Shaag, Boris Keren, George‐Lucian Moldovan, Orly Elpeleg
Vydáno 2017Artigo -
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Exome sequencing reveals mutated SLC19A3 in patients with an early-infantile, lethal encephalopathy Autor Sietske H. Kevelam, Marianna Bugiani, Gajja S. Salomons, Annette Feigenbaum, Susan Blasér, Chitra Prasad, Johannes Häberle, Ivo Barić, Ingrid Bakker, Nienke L. Postma, Warsha A. Kanhai, Nicole I. Wolf, Truus E. M. Abbink, Quinten Waisfisz, Peter Heutink, Marjo S. van der Knaap
Vydáno 2013Artigo -
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Child and family experiences with inborn errors of metabolism: a qualitative interview study with representatives of patient groups Autor Sara D. Khangura, Kylie Tingley, Pranesh Chakraborty, Doug Coyle, Jonathan B. Kronick, Anne‐Marie Laberge, Julian Little, Fiona A. Miller, John J. Mitchell, Chitra Prasad, Shabnaz Siddiq, Komudi Siriwardena, Rebecca Sparkes, Kathy N. Speechley, Sylvia Stöckler, Yannis Trakadis, Brenda J. Wilson, Kumanan Wilson, Beth K. Potter
Vydáno 2015Artigo -
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<i>PMPCA</i>mutations cause abnormal mitochondrial protein processing in patients with non-progressive cerebellar ataxia Autor Rebekah Jobling, Mirna Assoum, Oleksandr Gakh, Susan Blasér, Julian Raiman, Cyril Mignot, Emmanuel Roze, Alexandra Dürr, Alexis Brice, Nicolas Lévy, Chitra Prasad, Tara Paton, Andrew D. Paterson, Nicole M. Roslin, Christian R. Marshall, Jean-Pierre Desvignes, Nathalie Roëckel-Trevisiol, Stephen W. Scherer, Guy A. Rouleau, André Mégarbané, Grazia Isaya, Valérie Delague, Grace Yoon
Vydáno 2015Artigo -
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CODAS Syndrome Is Associated with Mutations of LONP1, Encoding Mitochondrial AAA+ Lon Protease Autor Kevin A. Strauss, Robert N. Jinks, Erik G. Puffenberger, Sundararajan Venkatesh, Kamalendra Singh, Iteen Cheng, Natalie Mikita, Jayapalraja Thilagavathi, Jae Lee, Stefan G. Sarafianos, Abigail R. Benkert, Alanna E. Koehler, Anni Zhu, Victoria Trovillion, Madeleine McGlincy, Thierry Morlet, Matthew A. Deardorff, A. Micheil Innes, Chitra Prasad, Albert E. Chudley, Irene Lee, Carolyn K. Suzuki
Vydáno 2015Artigo
Vyhledávací nástroje:
Související témata
Biology
Genetics
Gene
Medicine
Internal medicine
Mutation
Phenotype
Neuroscience
Psychiatry
Computational biology
DNA methylation
Family medicine
Gene expression
Genome
Pediatrics
Psychology
CHARGE syndrome
Cell biology
Cerebellum
Cohort
DNA
Disease
Exome sequencing
Fetus
Health care
Methylation
Missense mutation
Nursing
Pathology
Pregnancy