Amanote Research
Register
Sign In
Discover open access scientific publications
Search, annotate, share and cite publications
Publications by K. Lachlan
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
