William van’t Hoff

A novel gene encoding an integral membrane protein is mutated in nephropathic cystinosis

Margaret Town, G Jean, Stéphanie Cherqui et al. · Nature Genetics · 1998 · 642 citations

Medicine, Genetics, Molecular Genetics +4

Epilepsy, Ataxia, Sensorineural Deafness, Tubulopathy, and <i>KCNJ10</i> Mutations

Detlef Böckenhauer, Sally Feather, Horia Stanescu et al. · New England Journal of Medicine · 2009 · 580 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Azithromycin in patients admitted to hospital with COVID-19 (RECOVERY): a randomised, controlled, open-label, platform trial

Eugenia Abaleke, Mustafa Abbas, Sadia Abbasi et al. · The Lancet · 2021 · 564 citations · Full text

Pharmacy, Infectious Diseases, Pharmacotherapy +6

Burosumab Therapy in Children with X-Linked Hypophosphatemia

Thomas O. Carpenter, Michael P. Whyte, Erik A. Imel et al. · New England Journal of Medicine · 2018 · 473 citations · Full text

Medicine, Endocrinology, Nephrology +17

An audit of outcome of treatment in acromegaly

Andrew Bates, William van’t Hoff, Jefferson M. Jones et al. · QJM · 1993 · 468 citations

Medicine, Endocrinology, Internal Medicine +11