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Publications by S. Stora
Homozygous Mutation in ELMO2 May Cause Ramon Syndrome
Clinical Genetics
Genetics
Related publications
Nonlethal CHRNA1-Related Congenital Myasthenic Syndrome With a Homozygous Null Mutation
Canadian Journal of Neurological Sciences
Medicine
Neurology
Heterozygous Mutation of C.3521C>T in COL1A1 May Cause Mild Osteogenesis Imperfecta/Ehlers-Danlos Syndrome in a Chinese Family
Intractable and Rare Diseases Research
Medicine
Bartter Syndrome in Homozygous Twins
Problemy Endokrinologii
Endocrinology
Metabolism
Diabetes
A Novel Homozygous Mutation of GJB2—A New Variant of Keratitis-Ichthyosis-Deafness Syndrome?
JAAD Case Reports
Dermatology
Clinical Significance of Prothrombin G20210A Mutation in Homozygous Patients
American Journal of Hematology
Hematology
Homozygous R396H Mutation of the RAG1 Gene in a Saudi Infant With Omenn's Syndrome: A Case Report
Cases Journal
“Homozygous, and Compound Heterozygous Mutation in 3 Turkish Family With Jervell and Lange-Nielsen Syndrome: Case Reports”
BMC Medical Genetics
Genetics
A Novel Homozygous Truncating Mutation in LAMB2 Gene in a Chinese Uyghur Patient With Severe Phenotype Pierson Syndrome
Frontiers in Medicine
Medicine
May-Thurner Syndrome: A Not So Uncommon Cause of a Common Condition
Baylor University Medical Center Proceedings
Medicine
