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Author

Ardinger Hh

Observed names: Ardinger, H.H., H H Ardinger
OpenAlex ID: A5108999427
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
Microcephaly in familial holoprosencephaly.
1988 · H H Ardinger, J A Bartley · PubMed · 18
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
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
Mitochondrial Neurogastrointestinal Encephalopathy Disease -- GeneReviews®
2016 · Pagon Ra, Adam Mp, et al. · 4
Hereditary Ataxia Overview -- GeneReviews®
2016 · Pagon Ra, Adam Mp, et al. · 4
Works count: 411
Citation count: 678
H-index: 7
I10-index: 4
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