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Publications by Philip L. Townes
X-Linked Late-Onset Sensorineural Deafness Caused by a Deletion Involving OA1 and a Novel Gene Containing WD-40 Repeats
American Journal of Human Genetics
Genetics
Related publications
1201 Whole Exon Deletion in the Claudin 16 Gene, a Novel Mutation in Familial Hypomagnesemia/Hypercalciuria/Nephrocalcinosis (FHHNC) and Sensorineural Deafness (SND)
Archives of Disease in Childhood
Child Health
Pediatrics
Perinatology
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
Late Adult-Onset of X-Linked Myopathy With Excessive Autophagy
Muscle and Nerve
Molecular Neuroscience
Neurology
Physiology
Cellular
A Novel Mutation of the Arylsulfatase a Gene in Late-Onset Metachromatic Leukodystrophy
Journal of Clinical Psychiatry
Medicine
Psychiatry
Mental Health
Effectiveness of Treatrnent by Massive Doses of ATP to Sensorineural Deafness of Sudden Onset
Practica Otologica
Otorhinolaryngology
P496 X- Linked Infantile Spinal Muscular Atrophy (Smax2) Caused by Novel C.1681g>a Substitution in the Uba1 Gene, Expanding the Phenotype
Sensorineural Deafness--A New Complication of Ulcerative Colitis?
Postgraduate Medical Journal
Medicine
Variable Retinal Phenotypes Caused by Mutations in the X-Linked Photopigment Gene Array
Investigative Ophthalmology and Visual Science
Molecular Neuroscience
Ophthalmology
Sensory Systems
Cellular
Adult-Onset Beta-Thalassaemia Intermedia Caused by a 5-Mb Somatic Clonal Segmental Deletion in Haemopoietic Stem Cells Involving the Β-Globin Locus
British Journal of Haematology
Hematology
