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Publications by Sally A. Spillane

Chromosome 17q12 Duplications: Further Delineation of the Range of Psychiatric and Clinical Phenotypes

American Journal of Medical Genetics, Part B, Neuropsychiatric Genetics

Molecular Neuroscience

English

Related publications

Clinical Spectrum Associated With Recurrent Genomic Rearrangements in Chromosome 17q12

European Journal of Human Genetics

English

The SHORT Syndrome: Further Delineation and Natural History.

Journal of Medical Genetics

English

Investigation of Chromosome X Inactivation and Clinical Phenotypes in Female Carriers of DKC1 Mutations

American Journal of Hematology

English

Opposite Deletions/Duplications of the X Chromosome: Two Novel Reciprocal Rearrangements

European Journal of Human Genetics

English

Delineation of Phenotypes and Genotypes Related to Cohesin Structural Protein RAD21

English

Localization of the Gene for Sclerosteosis to the Van Buchem Disease–Gene Region on Chromosome 17q12–q21

American Journal of Human Genetics

English

Segmental Duplications and Evolutionary Plasticity at Tumor Chromosome Break-Prone Regions

Genome Research

English

4H Leukodystrophy Caused by a Homozygous POLR3B Mutation: Further Delineation of the Phenotype

American Journal of Medical Genetics, Part A

English

Bacillus Subtilis Strains Carrying Two Non-Tandem Duplications of the trpE-ilvA and the purB-tre Regions of the Chromosome

English