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Deep sequencing reveals 50 novel genes for recessive cognitive disorders.
Nature. 2011 Sep 21;478(7367):57-63. doi: 10.1038/nature10423.
Nature. 2011.
PMID: 21937992
Missense variants in AIMP1 gene are implicated in autosomal recessive intellectual disability without neurodegeneration.
Iqbal Z, Püttmann L, Musante L, Razzaq A, Zahoor MY, Hu H, Wienker TF, Garshasbi M, Fattahi Z, Gilissen C, Vissers LE, de Brouwer AP, Veltman JA, Pfundt R, Najmabadi H, Ropers HH, Riazuddin S, Kahrizi K, van Bokhoven H.
Iqbal Z, et al. Among authors: puttmann l.
Eur J Hum Genet. 2016 Mar;24(3):392-9. doi: 10.1038/ejhg.2015.148. Epub 2015 Jul 15.
Eur J Hum Genet. 2016.
PMID: 26173967
Free PMC article.
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Mutations of the aminoacyl-tRNA-synthetases SARS and WARS2 are implicated in the etiology of autosomal recessive intellectual disability.
Musante L, Püttmann L, Kahrizi K, Garshasbi M, Hu H, Stehr H, Lipkowitz B, Otto S, Jensen LR, Tzschach A, Jamali P, Wienker T, Najmabadi H, Ropers HH, Kuss AW.
Musante L, et al. Among authors: puttmann l.
Hum Mutat. 2017 Jun;38(6):621-636. doi: 10.1002/humu.23205. Epub 2017 Mar 23.
Hum Mutat. 2017.
PMID: 28236339
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A novel ALDH5A1 mutation is associated with succinic semialdehyde dehydrogenase deficiency and severe intellectual disability in an Iranian family.
Püttmann L, Stehr H, Garshasbi M, Hu H, Kahrizi K, Lipkowitz B, Jamali P, Tzschach A, Najmabadi H, Ropers HH, Musante L, Kuss AW.
Püttmann L, et al.
Am J Med Genet A. 2013 Aug;161A(8):1915-22. doi: 10.1002/ajmg.a.36030. Epub 2013 Jul 4.
Am J Med Genet A. 2013.
PMID: 23825041
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Relevance of individual Mo-box nucleotides to DNA binding by the related molybdenum-responsive regulators MopA and MopB in Rhodobacter capsulatus.
Müller A, Püttmann L, Barthel R, Schön M, Lackmann JW, Narberhaus F, Masepohl B.
Müller A, et al. Among authors: puttmann l.
FEMS Microbiol Lett. 2010 Jun;307(2):191-200. doi: 10.1111/j.1574-6968.2010.01981.x. Epub 2010 Apr 8.
FEMS Microbiol Lett. 2010.
PMID: 20455946
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