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Publications by Elke Pulz
A Novel Germline CDKN1B Mutation Causing Multiple Endocrine Tumors: Clinical, Genetic and Functional Characterization
Human Mutation
Genetics
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Identification of a Novel MEN1 Gene Mutation in Saudi Arabian Patient With Multiple Endocrine Tumors
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Clinical, Genetic, and Biophysical Characterization of a Homozygous HERG Mutation Causing Severe Neonatal Long QT Syndrome
Pediatric Research
Child Health
Pediatrics
Perinatology
Clinical, Imaging, Pathological, and Biochemical Characterization of a Novel Presenilin 1 Mutation (N135Y) Causing Alzheimer's Disease
Neurobiology of Aging
Aging
Gerontology
Developmental Biology
Geriatrics
Neuroscience
Neurology
Glomus Tumors in Neurofibromatosis Type 1: Genetic, Functional, and Clinical Evidence of a Novel Association
Cancer Research
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Novel Germline MSH2 Mutation in Lynch Syndrome Patient Surviving Multiple Cancers
Hereditary Cancer in Clinical Practice
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A Novel Case With Germline P53 Gene Mutation Having Concurrent Multiple Primary Colon Tumours
Gut
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A Family of Multiple Endocrine Neoplasia Type 2A: Genetic Analysis and Clinical Features.
Endocrine Journal
Endocrinology
Metabolism
Diabetes
A Possible New Multiple Endocrine Neoplasia Mutation in a Patient With a Prototypic Multiple Endocrine Neoplasia Presentation
CardioRenal Medicine
Urology
Cardiovascular Medicine
Cardiology
Positive Germline Selection in Pedigrees With Multiple Endocrine Neoplasia Type 2 Carrying V804M Mutation in the RET Gene
World Journal of Oncology
Cancer Research
Oncology