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Pagon Ra

Observed name: R A Pagon
OpenAlex ID: A5032118605
Minor Xp21 chromosome deletion in a male associated with expression of Duchenne muscular dystrophy, chronic granulomatous disease, retinitis pigmentosa, and McLeod syndrome.
1985 · U Francke, H D Ochs, et al. · PubMed · 454
Primary Coenzyme Q 10 Deficiency
1993 · Adam Mp, Ardinger Hh, et al. · Padua Research Archive (University of Padova) · 40
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GTP Cyclohydrolase 1-Deficient Dopa-Responsive Dystonia
2015 · Pagon Ra, Adam Mp, et al. · Europe PMC (PubMed Central) · 35
Cleidocranial Dysplasia -- GeneReviews(®)
2016 · Pagon Ra, Adam Mp, et al. · Europe PMC (PubMed Central) · 19
Teschler-Nicola/Killian syndrome.
1983 · R A Pagon · PubMed · 10
Hereditary Paraganglioma-Pheochromocytoma Syndromes -- GeneReviews®
2016 · Pagon Ra, Adam Mp, et al. · 8
Mitochondrial Disorders Overview -- GeneReviews(®)
2016 · Pagon Ra, Adam Mp, et al. · 7
Classic Galactosemia and Clinical Variant Galactosemia -- GeneReviews(®)
2016 · Pagon Ra, Adam Mp, et al. · 7
Neurodegeneration with Brain Iron Accumulation Disorders Overview -- GeneReviews(®)
2016 · Pagon Ra, Adam Mp, et al. · 7
AP-4-Associated Hereditary Spastic Paraplegia -- GeneReviews®
2019 · Adam Mp, Ardinger Hh, et al. · 6
PTEN Hamartoma Tumor Syndrome -- GeneReviews®
2016 · Pagon Ra, Adam Mp, et al. · 6
Mucopolysaccharidosis Type I -- GeneReviews(®)
2016 · Pagon Ra, Adam Mp, et al. · 6
Fibrous Dysplasia/McCune-Albright Syndrome -- GeneReviews(®)
2016 · Pagon Ra, Adam Mp, et al. · 6
Urea Cycle Disorders Overview -- GeneReviews(®)
2016 · Pagon Ra, Adam Mp, et al. · 6
Neurofibromatosis 1 -- GeneReviews(®)
2016 · Pagon Ra, Adam Mp, et al. · 6
Charcot-Marie-Tooth (CMT) Hereditary Neuropathy Overview -- GeneReviews®
2016 · Pagon Ra, Adam Mp, et al. · 6
Informed consent for research publication of patient-related data.
1984 · J C Murray, R A Pagon · PubMed · 6
Barth Syndrome -- GeneReviews®
2016 · Pagon Ra, Adam Mp, et al. · 5
Niemann-Pick Disease Type C -- GeneReviews®
2016 · Pagon Ra, Adam Mp, et al. · 5
Prader-Willi Syndrome -- GeneReviews®
2016 · Pagon Ra, Adam Mp, et al. · 5
Loeys-Dietz Syndrome -- GeneReviews(®)
2016 · Pagon Ra, Adam Mp, et al. · 5
Myotonic Dystrophy Type 1 -- GeneReviews®
2016 · Pagon Ra, Adam Mp, et al. · 5
Juvenile Polyposis Syndrome -- GeneReviews(®)
2016 · Pagon Ra, Adam Mp, et al. · 5
Disorders of Intracellular Cobalamin Metabolism -- GeneReviews®
2016 · Pagon Ra, Adam Mp, et al. · 5
Marfan Syndrome -- GeneReviews(®)
2016 · Pagon Ra, Adam Mp, et al. · 5
Works count: 415
Citation count: 1,132
H-index: 7
I10-index: 5
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