نتائج البحث - Anna Wedell
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Molecular Model of Human CYP21 Based on Mammalian CYP2C5: Structural Features Correlate with Clinical Severity of Mutations Causing Congenital Adrenal Hyperplasia حسب Tiina Robins, Jonas Carlsson, Maria Sunnerhagen, Anna Wedell, Bengt Persson
منشور في 2006Artigo -
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Identification of a duplication within the GDF9 gene and novel candidate genes for primary ovarian insufficiency (POI) by a customized high-resolution array comparative genomic hyb... حسب Ameli Norling, Angelica Lindén Hirschberg, Kenny A. Rodriguez‐Wallberg, Erik Iwarsson, Anna Wedell, Michela Barbaro
منشور في 2014Artigo -
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Epilepsy syndromes, etiologies, and the use of next‐generation sequencing in epilepsy presenting in the first 2 years of life: A population‐based study حسب Tommy Stödberg, Torbjörn Tomson, Michela Barbaro, Henrik Stranneheim, Britt‐Marie Anderlid, Sofia Carlsson, Per Åmark, Anna Wedell
منشور في 2020Artigo -
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Suboptimal Psychosocial Outcomes in Patients With Congenital Adrenal Hyperplasia: Epidemiological Studies in a Nonbiased National Cohort in Sweden حسب Anna Strandqvist, Henrik Falhammar, Paul Lichtenstein, Angelica Lindén Hirschberg, Anna Wedell, Christina Norrby, Agneta Nordenskjöld, Louise Frisén, Anna Nordenström
منشور في 2014Artigo -
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Mitochondrial Polyadenylation Is a One-Step Process Required for mRNA Integrity and tRNA Maturation حسب Ana Bratić, Paula Clemente, Javier Calvo‐Garrido, Camilla Maffezzini, Andrea Felser, Rolf Wibom, Anna Wedell, Christoph Freyer, Anna Wredenberg
منشور في 2016Artigo -
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Characterization of deletions at 9p affecting the candidate regions for sex reversal and deletion 9p syndrome by MLPA حسب Michela Barbaro, Antonio Balsamo, Britt Marie Anderlid, Anne Grethe Myhre, Monia Gennari, Annalisa Nicoletti, Maria Carla Pittalis, Mikael Oscarson, Anna Wedell
منشور في 2009Artigo -
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RNA modification landscape of the human mitochondrial tRNALys regulates protein synthesis حسب Uwe Richter, Molly Evans, Wesley C. Clark, Paula Marttinen, Eric A. Shoubridge, Anu Suomalainen, Anna Wredenberg, Anna Wedell, Tao Pan, Brendan J. Battersby
منشور في 2018Artigo -
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AGC1 Deficiency Associated with Global Cerebral Hypomyelination حسب Rolf Wibom, Francesco M. Lasorsa, Virpi Töhönen, Michela Barbaro, Fredrik Sterky, Thomas Kucinski, K Naess, Monica Jönsson, Ciro Leonardo Pierri, Ferdinando Palmieri, Anna Wedell
منشور في 2009Artigo -
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<scp>FBXL</scp> 4 deficiency increases mitochondrial removal by autophagy حسب David Alsina, Oleksandr Lytovchenko, Aleksandra Schab, Ilian Atanassov, F. Schober, Min Jiang, Camilla Koolmeister, Anna Wedell, Robert W. Taylor, Anna Wredenberg, Nils‐Göran Larsson
منشور في 2020Artigo
أدوات البحث:
موضوعات ذات صلة
Biology
Genetics
Gene
Medicine
Internal medicine
Endocrinology
Biochemistry
Mitochondrion
Mutation
Congenital adrenal hyperplasia
Cell biology
Neuroscience
Genome
Pathology
Disease
Enzyme
Mitochondrial DNA
Pediatrics
Phenotype
Allele
Cohort
Computational biology
Environmental health
Epilepsy
Missense mutation
Population
Psychiatry
21-Hydroxylase
Bioinformatics
Chemistry