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Publications by Rita Bertalan
Novel Frameshift Mutation of the NR0B1(DAX1) in Two Tall Adult Brothers
Molecular Biology Reports
Medicine
Genetics
Molecular Biology
The Importance of the Multiplex Ligation-Dependent Probe Amplification in the Identification of a Novel Two-Exon Deletion of the NR5A1 Gene in a Patient With 46,XY Differences of Sex Development
Molecular Biology Reports
Medicine
Genetics
Molecular Biology
Related publications
A Novel Stop Mutation (P.(Gln22*)) of DAX1 (NR0B1) Results in Late-Onset X-Linked Adrenal Hypoplasia Congenita
Endocrinology, Diabetes and Metabolism Case Reports
Internal Medicine
Endocrinology
Metabolism
Diabetes
Frameshift Mutation
X-Linked Adrenal Hypoplasia Congenita With a Novel DAX1 Missense Mutation
Endocrine Abstracts
A Novel Frameshift Mutation in the XPC Gene in a Moroccan Patient: A Case Report
Journal of Medical Case Reports
Medicine
Identification of a Novel KCNQ1 Frameshift Mutation and Review of the Literature Among Iranian Long QT Families
Iranian Biomedical Journal
Biochemistry
Clinical Biochemistry
Genetics
Molecular Biology
Identification of a Novel Frameshift Mutation in PITX2 Gene in a Chinese Family With Axenfeld-Rieger Syndrome
Journal of Zhejiang University: Science B
Genetics
Pharmacology
Molecular Biology
Biochemistry
Veterinary
Medicine
Toxicology
Pharmaceutics
Chronic Mucocutaneous Candidiasis Associated With a Novel Frameshift Mutation in IL-17 Receptor Alpha (IL-17RA)
LymphoSign Journal
A Novel Mutation in FGFR3 Causes Camptodactyly, Tall Stature, and Hearing Loss (CATSHL) Syndrome
American Journal of Human Genetics
Genetics
Two Novel C-Terminal Frameshift Mutations in the Β-Globin Gene Lead to Rapid mRNA Decay
BMC Medical Genetics
Genetics
