Concepedia

Isa Bernardini

IB

Statistics

Publications

61

Citations

5.7K

H-Index

38

Active since

1981

Affiliations

National Institutes of Health(Current)

National Human Genome Research Institute

Health and Human Development (2HD) Research Network

National Institute of Child Health

National Institute of Child Health

Isa Bernardini is an author at National Institutes of Health specializing in medicine, life sciences, and genetics.

Publications per year

1981–2018

61

Publications

61

Natural History of Alkaptonuria

Chanika Phornphutkul, Wendy J. Introne, Monique B. Perry et al. · New England Journal of Medicine · 2002 · 655 citations · Full text

Life Sciences, Genetics, Molecular Genetics +4

Cystine Transport Is Defective in Isolated Leukocyte Lysosomes from Patients with Cystinosis

W. A. Gahl, Nava Bashan, Frank Tietze et al. · Science · 1982 · 364 citations

Life Sciences, Biochemistry, Cell Biology +17

Mutations in SLC6A19, encoding B0AT1, cause Hartnup disorder

Robert Kleta, Elisa Romeo, Zorica Ristic et al. · Nature Genetics · 2004 · 309 citations · Full text

Life Sciences, Genetics, Molecular Genetics +6

Genetic Defects and Clinical Characteristics of Patients with a Form of Oculocutaneous Albinism (Hermansky–Pudlak Syndrome)

W. A. Gahl, Mark Brantly, Muriel I. Kaiser‐Kupfer et al. · New England Journal of Medicine · 1998 · 309 citations · Full text

Life Sciences, Genetics, Molecular Genetics +15

Improved Renal Function in Children with Cystinosis Treated with Cysteamine

Thomas C. Markello, Isa Bernardini, William A. Gahl · New England Journal of Medicine · 1993 · 286 citations · Full text

Medicine, Nephrology, Pediatrics +14

1–5 of 61