Amanote Research
Register
Sign In
Discover open access scientific publications
Search, annotate, share and cite publications
Publications by Geraldine McDowel
Breakpoint Identification, Detection and Frequency of the 65-Kb Deletion in the Cystinosis Gene, CTNS
Pediatric Research
Child Health
Pediatrics
Perinatology
Related publications
Analysis of CTNS Gene Transcripts in Nephropathic Cystinosis
Pediatric Nephrology
Child Health
Pediatrics
Perinatology
Nephrology
The Promoter of a Lysosomal Membrane Transporter Gene, CTNS, Binds Sp-1, Shares Sequences With the Promoter of an Adjacent Gene, CARKL, and Causes Cystinosis if Mutated in a Critical Region
American Journal of Human Genetics
Genetics
Breakpoint Junction Features of Seven DMD Deletion Mutations
Human Genome Variation
Biochemistry
Genetics
Molecular Biology
Interstitial 287 Kb Deletion of 4p16.3 Including FGFRL1 Gene Associated With Language Impairment and Overgrowth
Molecular Cytogenetics
Biochemistry
Molecular Medicine
Genetics
Molecular Biology
Screening of GJB6 Gene for the 342-Kb Deletion in Patients From Jordan With Non Syndromic Hearing Loss
International Journal of Human Genetics
Genetics
Radial Evolution of the High/Low Frequency Breakpoint in Magnetic Field Spectra
AIP Conference Proceedings
Astronomy
Physics
Clinical Utility Gene Card For: Cystinosis
European Journal of Human Genetics
Genetics
Hereditary Hemorrhagic Telangiectasia: Breakpoint Characterization of a Novel Large Deletion inACVRL1Suggests the Causing Mechanism
Molecular Syndromology
Genetics
The 11 Kb FGA Deletion Responsible for Congenital Afibrinogenaemia Is Mediated by a Short Direct Repeat in the Fibrinogen Gene Cluster
European Journal of Human Genetics
Genetics
