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Publications by Martine K F Docx

Identification of biallelicLRRK1mutations in Osteosclerotic Metaphyseal Dysplasia and Evidence for Locus Heterogeneity

Journal of Medical Genetics

English

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Lethal Osteosclerotic Bone Dysplasia

English

Evidence for Locus Heterogeneity in Puerto Ricans With Hermansky-Pudlak Syndrome

American Journal of Human Genetics

English

Microspherophakia-Metaphyseal Dysplasia: A 'New' Dominantly Inherited Bone Dysplasia With Severe Eye Involvement.

Journal of Medical Genetics

English

Expanding the Clinical, Allelic, and Locus Heterogeneity of Retinal Dystrophies

Genetics in Medicine

English

Hereditary Multi-Infarct Dementia Unlinked to Chromosome 19q12 in a Large Scottish Pedigree: Evidence of Probable Locus Heterogeneity.

Journal of Medical Genetics

English

Unique Growing Rod Treatment With Prior Foundation Surgery for Spondylo-Epi-Metaphyseal Dysplasia With Severe Kyphoscoliosis: A Case Report

Spine Surgery and Related Research

Sports Medicine

English

Isotopic Evidence for Chaotic Imprint in Upper Mantle Heterogeneity

Geochemistry, Geophysics, Geosystems

English

Heterogeneity in the Rebound Effect: Further Evidence for Germany

Energy Economics

English

Spondylo-Epi-Metaphyseal Dysplasia (SEMD) Matrilin 3 Type: Homozygote Matrilin 3 Mutation in a Novel Form of SEMD

Journal of Medical Genetics

English