Concepedia

Johannes Buckard

JB

Statistics

Publications

6

Citations

709

H-Index

6

Active since

2003

Affiliations

Evangelisches Krankenhaus Düsseldorf(Current)

Oxford University Hospitals NHS Trust

Alder Hey Children's NHS Foundation Trust

University of Göttingen

Johns Hopkins University

Johannes Buckard is an author at Evangelisches Krankenhaus Düsseldorf specializing in medicine, pediatric endocrinology, and pediatrics.

Top concepts

Publications per year

2003–2020

6

Publications

6

Mutations in CTC1, encoding conserved telomere maintenance component 1, cause Coats plus

Beverley Anderson, Paul R. Kasher, Joséphine Mayer et al. · Nature Genetics · 2012 · 285 citations · Full text

, , +9

Expanding the phenotypic spectrum of lupus erythematosus in Aicardi‐Goutières syndrome

Georgia Ramantani, Jürgen Kohlhase, Christoph Hertzberg et al. · Arthritis & Rheumatism · 2010 · 209 citations

Mutations in SNORD118 cause the cerebral microangiopathy leukoencephalopathy with calcifications and cysts

Emma M. Jenkinson, Mathieu P. Rodero, Paul R. Kasher et al. · Nature Genetics · 2016 · 145 citations · Full text

, , +5

Leukoencephalopathy with calcifications and cysts: Genetic and phenotypic spectrum

Yanick J. Crow, Heather Marshall, Gillian Rice et al. · American Journal of Medical Genetics Part A · 2020 · 29 citations · Full text

Nosological delineation of congenital ocular motor apraxia type Cogan: an observational study

Sarah Wente, Simone Schröder, Johannes Buckard et al. · Orphanet Journal of Rare Diseases · 2016 · 25 citations · Full text

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