Publikationen von H. Hu
Alle Typen
Zeitschriftenartikel (36)
21.
Zeitschriftenartikel
109 (36), S. 14514 - 14519 (2012)
Mutation of plasma membrane Ca2+ ATPase isoform 3 in a family with X-linked congenital cerebellar ataxia impairs Ca2+ homeostasis. Proceedings of the National Academy of Sciences of the United States of America 22.
Zeitschriftenartikel
155A (8), S. 1976 - 80 (2011)
A novel nonsense mutation in TUSC3 is responsible for non-syndromic autosomal recessive mental retardation in a consanguineous Iranian family. Am J Med Genet A 23.
Zeitschriftenartikel
89 (3), S. 407 - 14 (2011)
ST3GAL3 mutations impair the development of higher cognitive functions. Am J Hum Genet 24.
Zeitschriftenartikel
129 (2), S. 141 - 8 (2011)
Autosomal recessive mental retardation: homozygosity mapping identifies 27 single linkage intervals, at least 14 novel loci and several mutation hotspots. Hum Genet 25.
Zeitschriftenartikel
478 (7367), S. 57 - 63 (2011)
Deep sequencing reveals 50 novel genes for recessive cognitive disorders. Nature 26.
Zeitschriftenartikel
108 (30), S. 12390 - 5 (2011)
Mutation of the conserved polyadenosine RNA binding protein, ZC3H14/dNab2, impairs neural function in Drosophila and humans. Proc Natl Acad Sci U S A 27.
Zeitschriftenartikel
89 (1), S. 176 - 82 (2011)
Mutations in the alpha 1,2-mannosidase gene, MAN1B1, cause autosomal-recessive intellectual disability. Am J Hum Genet 28.
Zeitschriftenartikel
20 (13), S. 2585 - 90 (2011)
Identification of a novel candidate gene for non-syndromic autosomal recessive intellectual disability: the WASH complex member SWIP. Hum Mol Genet 29.
Zeitschriftenartikel
88 (5), S. 628 - 34 (2011)
Next-generation sequencing identifies mutations of SMPX, which encodes the small muscle protein, X-linked, as a cause of progressive hearing impairment. Am J Hum Genet 30.
Zeitschriftenartikel
88 (5), S. 628 - 34 (2011)
Next-generation sequencing identifies mutations of SMPX, which encodes the small muscle protein, X-linked, as a cause of progressive hearing impairment. Am J Hum Genet 31.
Zeitschriftenartikel
155A (12), S. 3067 - 70 (2011)
Novel GDI1 mutation in a large family with nonsyndromic X-linked intellectual disability. Am J Med Genet A 32.
Zeitschriftenartikel
129 (2), S. 141 - 148 (2010)
Autosomal recessive mental retardation: homozygosity mapping identifies 27 single linkage intervals, at least 14 nvel loci and several mutation hotspots. Human Genetics 33.
Zeitschriftenartikel
3 (1-4), S. 83 - 83 (2010)
Erratum to: Mutation screening in 86 known X-linked mental retardation genes by droplet-based multiplex PCR and massive parallel sequencing. The Hugo Journal 34.
Zeitschriftenartikel
Breakpoint analysis of balanced chromosome rearrangements by next-generation paired-end sequencing. European Journal of Human Genetics (2010)
35.
Zeitschriftenartikel
10, S. 413 - 413 (2009)
Sequence features associated with microRNA strand selection in humans and flies. BMC Genomics 36.
Zeitschriftenartikel
10, S. 161 - 161 (2009)
Estimating accuracy of RNA-Seq and microarrays with proteomics. BMC Genomics