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Journal of Medical Genetics
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61 Nonsense mutation of the stereociliar membrane protein gene PTPRQ in human hearing loss DFNB84.
62 BRCA1, BRCA2 and CHEK2 c.1100 delC mutations in patients with double primaries of the breasts and/or ovaries.
63 Epigenetic signatures of Silver-Russell syndrome.
64 A novel FTL insertion causing neuroferritinopathy.
65 FCGR2A Functional Genetic Variant Associated with Susceptibility to Severe Malarial Anemia in Ghanaian Children.
66 Phenotype-Genotype correlation in a familial IGF1R microdeletion case.
67 Functional evidence implicating a novel TOR1A mutation in idiopathic, late-onset focal dystonia.
68 Mutations in ZIC2 in Human Holoprosencephaly: Description of a Novel ZIC2-Specific Phenotype and Comprehensive Analysis of 157 Individuals.
69 Genomic microarrays in mental retardation: from CNV to gene, from research to diagnosis.
70 Constitutional Translocation Breakpoint Mapping by Genome-wide Paired-end Sequencing Identifies HACE1 as a Putative Wilms Tumor Susceptibility Gene.
71 Comprehensive genotype-phenotype analysis in 230 patients with tetralogy of Fallot.
72 Assisted reproductive technologies do not enhance the variability of DNA methylation imprints in human.
73 Non-recurrent SEPT9 duplications cause Hereditary Neuralgic Amyotrophy.
74 Updating the profile of C-terminal MECP2 deletions in Rett syndrome.
75 Information for genetic management of mtDNA disease: Sampling pathogenic mtDNA mutants in the human germline and in placenta.
76 Recurrent reciprocal 16p11.2 rearrangements associated with global developmental delay, behavioral problems, dysmorphism, epilepsy, and abnormal head size.
77 Partial 7q11.23 deletions further implicate GTF2I and GTF2IRD1 as the main genes responsible for the Williams-Beuren syndrome neurocognitive profile.
78 Phenotypic Spectrum of MFN2 Mutations in the Spanish Population.
79 An update on age related mosaic and offspring risk in neurofibromatosis 2 (NF2).
80 The very low penetrance of cystic fibrosis for the R117H mutation: a reappraisal for genetic counselling and newborn screening.
 
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