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Publications by Iain McIntosh
Deletion of a Branch-Point Consensus Sequence in the LMX1B Gene Causes Exon Skipping in a Family With Nail Patella Syndrome
European Journal of Human Genetics
Genetics
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Deletion of Exon 8 From the EXT1 Gene Causes Multiple Osteochondromas (MO) in a Family With Three Affected Members
SpringerPlus
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A Hypoplastic Patella Fracture in Nail Patella Syndrome: A Case Report
Journal of Medical Case Reports
Medicine
Nail-Patella Syndrome
Nail Patella Syndrome
Indian Journal of Pediatrics
Child Health
Pediatrics
Perinatology
Genotype–phenotype Studies in Nail-Patella Syndrome Show That LMX1B Mutation Location Is Involved in the Risk of Developing Nephropathy
European Journal of Human Genetics
Genetics
Familial Colon Carcinoma in Nail-Patella Syndrome
American Journal of Roentgenology
Medicine
Nuclear Medicine
Radiology
Imaging
An ANK1 IVS3-2A>C Mutation Causes Exon 4 Skipping in Two Patients From a Chinese Family With Hereditary Spherocytosis
Oncotarget
Oncology
Exonic Mutations in the SLC12A3 Gene Cause Exon Skipping and Premature Termination in Gitelman Syndrome
Journal of the American Society of Nephrology : JASN
Medicine
Nephrology
Splicing Analysis Disclosed a Determinant Single Nucleotide for Exon Skipping Caused by a Novel Intraexonic Four-Nucleotide Deletion in the Dystrophin Gene
Journal of Medical Genetics
Genetics
