Concepedia

Lucia Püttmann

LP

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Publications

5

Citations

1.1K

H-Index

5

Active since

2010

Affiliations

University of Social Welfare and Rehabilitation Sciences(Current)

Max Planck Institute for Molecular Genetics

Shahroud University of Medical Sciences

Lucia Püttmann is an author at University of Social Welfare and Rehabilitation Sciences specializing in genetics, life sciences, and molecular genetics.

Publications per year

2010–2017

5

Publications

5

Deep sequencing reveals 50 novel genes for recessive cognitive disorders

Hossein Najmabadi, Hao Hu, Masoud Garshasbi et al. · Nature · 2011 · 987 citations

, , +12

Mutations of the aminoacyl-tRNA-synthetases SARS and WARS2 are implicated in the etiology of autosomal recessive intellectual disability

Luciana Musante, Lucia Püttmann, Kimia Kahrizi et al. · Human Mutation · 2017 · 66 citations · Full text

, , +17

Missense variants in AIMP1 gene are implicated in autosomal recessive intellectual disability without neurodegeneration

Zafar Iqbal, Lucia Püttmann, Luciana Musante et al. · European Journal of Human Genetics · 2015 · 24 citations · Full text

, , +16

A novel <i>ALDH5A1</i> mutation is associated with succinic semialdehyde dehydrogenase deficiency and severe intellectual disability in an Iranian family

Lucia Püttmann, Henning Stehr, Masoud Garshasbi et al. · American Journal of Medical Genetics Part A · 2013 · 21 citations · Full text

, , +17

Relevance of individual Mo-box nucleotides to DNA binding by the related molybdenum-responsive regulators MopA and MopB in Rhodobacter capsulatus

Alexandra Müller, Lucia Püttmann, Romy Barthel et al. · FEMS Microbiology Letters · 2010 · 13 citations

, , +13

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