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Updating the profile of C-terminal MECP2 deletions in Rett syndrome. [JOURNAL ARTICLE]
J Med Genet 2009 Nov 12.
Abstract | Full Citation | Publisher Full Text | Find Related Articles | | Marchington D, Malik S, Banerjee A, et al.
Information for genetic management of mtDNA disease: Sampling pathogenic mtDNA mutants in the human germline and in placenta. [JOURNAL ARTICLE]
J Med Genet 2009 Nov 12.
Abstract | Full Citation | Find Related Articles | | Shinawi M, Liu P, Kang SH, et al.
Recurrent reciprocal 16p11.2 rearrangements associated with global developmental delay, behavioral problems, dysmorphism, epilepsy, and abnormal head size. [JOURNAL ARTICLE]
J Med Genet 2009 Nov 12.
Abstract | Full Citation | Find Related Articles | | Antonell A, Del Campo M, Magano LF, et al.
Partial 7q11.23 deletions further implicate GTF2I and GTF2IRD1 as the main genes responsible for the Williams-Beuren syndrome neurocognitive profile. [JOURNAL ARTICLE]
J Med Genet 2009 Nov 5.
Abstract | Full Citation | Find Related Articles | | Casasnovas C, Banchs I, Cassereau J, et al.
Phenotypic Spectrum of MFN2 Mutations in the Spanish Population. [JOURNAL ARTICLE]
J Med Genet 2009 Nov 3.
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An update on age related mosaic and offspring risk in neurofibromatosis 2 (NF2). [Journal Article]
J Med Genet 2009 Nov; 46(11):792.
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The very low penetrance of cystic fibrosis for the R117H mutation: a reappraisal for genetic counselling and newborn screening. [JOURNAL ARTICLE]
J Med Genet 2009 Nov; 46(11):752-758.
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Mutations of FUS Gene in Sporadic Amyotrophic Lateral Sclerosis. [JOURNAL ARTICLE]
J Med Genet 2009 Oct 26.
Abstract | Full Citation | | Handyside AH, Harton GL, Mariani B, et al.
Karyomapping: a Universal Method for Genome Wide Analysis of Genetic Disease based on Mapping Crossovers between Parental Haplotypes. [JOURNAL ARTICLE]
J Med Genet 2009 Oct 25.
Abstract | Full Citation | Find Related Articles | | Lecumberri B, Fernandez-Rebollo E, Sentchordi L, et al.
Coexistence of two different pseudohypoparathyroidism subtypes (Ia and Ib) in the same kindred with independent Gs{alpha} coding mutations and GNAS imprinting defects. [JOURNAL ARTICLE]
J Med Genet 2009 Oct 26.
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