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C Windpassinger
Author PubWeight™ 10.32
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Top papers
Rank
Title
Journal
Year
PubWeight™
‹?›
1
Late onset Charcot-Marie-Tooth 2 syndrome caused by two novel mutations in the MPZ gene.
Neurology
2003
1.48
2
Disruption of a novel gene (IMMP2L) by a breakpoint in 7q31 associated with Tourette syndrome.
Am J Hum Genet
2001
1.37
3
Consequences of mutations within the C terminus of the FHL1 gene.
Neurology
2009
1.18
4
Two novel mutations in the GDAP1 and PRX genes in early onset Charcot-Marie-Tooth syndrome.
Neuropediatrics
2008
1.15
5
Mitotic recombination mediated by the JJAZF1 (KIAA0160) gene causing somatic mosaicism and a new type of constitutional NF1 microdeletion in two children of a mosaic female with only few manifestations.
J Med Genet
2003
0.93
6
Candidate region for Gilles de la Tourette syndrome at 7q31.
Am J Med Genet
2001
0.91
7
Localization of the human anterior gradient-2 gene (AGR2) to chromosome band 7p21.3 by radiation hybrid mapping and fluorescencein situ hybridisation.
Cytogenet Cell Genet
2000
0.91
8
Characterization of a de novo complex chromosome rearrangement (CCR) involving chromosomes 2 and 12, associated with mental retardation and impaired speech development.
Cytogenet Genome Res
2006
0.88
9
Molecular characterisation of a 3.5 Mb interstitial 14q deletion in a child with several phenotypic anomalies.
J Med Genet
2003
0.77
10
Assignment of the human GABAA receptor delta-subunit gene (GABRD) to chromosome band 1p36.3 distal to marker NIB1364 by radiation hybrid mapping.
Cytogenet Cell Genet
2000
0.76
11
Distal monosomy 16p13.3/distal trisomy 2p24.2-pter: molecular-cytogenetic characterisation and phenotype.
Genet Couns
2007
0.75