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Publications by KJ Swoboda

Favorably Skewed X-Inactivation Accounts for Neurological Sparing in Female Carriers of Menkes Disease

Clinical Genetics

English

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Skewed X-Inactivation Is Common in the General Female Population

European Journal of Human Genetics

English

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

American Journal of Hematology

English

Very Mild Cases of Rett Syndrome With Skewed X Inactivation

Journal of Medical Genetics

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Menkes X Linked Disease: Heterozygous Phenotype in Uncloned Fibroblast Cultures.

Journal of Medical Genetics

English

X Chromosome Inactivation and Female Predisposition to Autoimmunity

Clinical Reviews in Allergy and Immunology

English

Skewed X-Chromosome Inactivation Is Common in Fetuses or Newborns Associated With Confined Placental Mosaicism

American Journal of Human Genetics

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Internal Jugular Phlebectasia in Menkes Disease

International Journal of Pediatric Otorhinolaryngology

Otorhinolaryngology

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Neuroimaging Changes in Menkes Disease, Part 2

American Journal of Neuroradiology

Nuclear Medicine

English

Imaging Features That Allow for the Recognition of Menkes Disease

Arquivos de Neuro-Psiquiatria

Biological Psychiatry

English