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Publications by R C Mountford
Norrie Disease Resulting From a Gene Deletion: Clinical Features and DNA Studies.
Journal of Medical Genetics
Genetics
Bridging Markers Defining the Map Position of X Linked Hypophosphataemic Rickets.
Journal of Medical Genetics
Genetics
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Audiologic Features of Norrie Disease
Annals of Otology, Rhinology and Laryngology
Medicine
Otorhinolaryngology
A Novel Soybean Mitochondrial Transcript Resulting From a DNA Rearrangement Involving the 5S rRNA Gene
Nucleic Acids Research
Genetics
EP13.03: Pierre Robin Sequence Resulting From 1q21.1 Deletion in a Neonate
Ultrasound in Obstetrics and Gynecology
Nuclear Medicine
Radiology
Ultrasound Technology
Gynecology
Reproductive Medicine
Radiological
Imaging
Obstetrics
Medicine
Congenital Aortic Stenosis Resulting From a Unicommissural Valve: Clinical and Anatomic Features in Twenty-One Adult Patients
Circulation
Cardiovascular Medicine
Physiology
Cardiology
Mutational and Gross Deletion Study of the MEN1 Gene and Correlation With Clinical Features in Spanish Patients
Journal of Medical Genetics
Genetics
Deletion (13)(q13q14.3) With Retinoblastoma: Confirmation and Extension of a Recognisable Pattern of Clinical Features in Retinoblastoma Patients With 13q Deletion.
Journal of Medical Genetics
Genetics
Glucocerebrosidase 2 Gene Deletion Rescues Type 1 Gaucher Disease
Proceedings of the National Academy of Sciences of the United States of America
Multidisciplinary
Pulmonary Necrosis Resulting From DNA Vaccination Against Tuberculosis
Infection and Immunity
Parasitology
Infectious Diseases
Immunology
Microbiology
Clinical Features of Unilateral Moyamoya Disease
Neurologia Medico-Chirurgica
Surgery
Neurology
