Amanote Research
Register
Sign In
Discover open access scientific publications
Search, annotate, share and cite publications
Publications by Vang Q. Le
The PHF6 Mutation C.1A>G; pM1V Causes B�rjeson-Forsman-Lehmann Syndrome in a Family With Four Affected Young Boys
Molecular Syndromology
Genetics
Related publications
Apert Syndrome With FGFR2 758 C > G Mutation: A Chinese Case Report
Frontiers in Genetics
Genetics
Molecular Medicine
A Mutation in MT-TW Causes a tRNA Processing Defect and Reduced Mitochondrial Function in a Family With Leigh Syndrome
Mitochondrion
Molecular Medicine
Cell Biology
Molecular Biology
Splice Receptor-Site Mutation C.697-2a>g of the COL1A1 Gene in a Chinese Family With Osteogenesis Imperfecta
Intractable and Rare Diseases Research
Medicine
A Family With Liddle's Syndrome Caused by a New C.1721 Deletion Mutation in the Epithelial Sodium Channel Β‑subunit
Experimental and Therapeutic Medicine
Medicine
Cancer Research
Immunology
Microbiology
A Novel Mutation in a Kazakh Family With X-Linked Alport Syndrome
PLoS ONE
Multidisciplinary
An ANK1 IVS3-2A>C Mutation Causes Exon 4 Skipping in Two Patients From a Chinese Family With Hereditary Spherocytosis
Oncotarget
Oncology
A Novel P20R Mutation in the Alpha-B Crystallin Gene Causes Autosomal Dominant Congenital Posterior Polar Cataracts in a Chinese Family
BMC Ophthalmology
Medicine
Ophthalmology
G Protein–coupled Receptor Family C Group 5 Member B (GPRC5B)
Science-Business eXchange
Novel Mutation in the AAAS Gene in a Severely Affected Triple-A Syndrome Patient
Endocrinology & Metabolic Syndrome
