J.L. Yntema

Exome sequencing identifies <i>DYNC2H1</i> mutations as a common cause of asphyxiating thoracic dystrophy (Jeune syndrome) without major polydactyly, renal or retinal involvement

Miriam Schmidts, Heleen H. Arts, Ernie M.H.F. Bongers et al. · Journal of Medical Genetics · 2013 · 145 citations · Full text

Life Sciences, Genetics, Molecular Genetics +15

Jeune syndrome: description of 13 cases and a proposal for follow-up protocol

J. de Vries, J.L. Yntema, C.E. van Die et al. · European Journal of Pediatrics · 2009 · 133 citations · Full text

Medicine, Pediatrics, Genodermatoses +10

Biomarkers in exhaled breath condensate indicate presence and severity of cystic fibrosis in children

C. M. H. H. T. Robroeks, Philippe Rosias, Dillys van Vliet et al. · Pediatric Allergy and Immunology · 2008 · 69 citations

Medicine, Pathobiology, Inflammation +16

Successful Treatment with Voriconazole of Invasive Aspergillosis in Chronic Granulomatous Disease

LOUIS G. van ‘t HEK, Paul E. Verweij, Corry M.R. Weemaes et al. · American Journal of Respiratory and Critical Care Medicine · 1998 · 68 citations

Medicine, Infectious Diseases, Microbiology +17

Relationship between IgG₁ and IgG₄ antibodies to foods and the development of IgE antibodies to inhalant allergens. II. Increased levels of IgG antibodies to foods in children who subsequently develop IgE antibodies to inhalant allergens

P. G. CALKHOVEN, M. Aalbers, V. Koshte et al. · Clinical & Experimental Allergy · 1991 · 48 citations

Life Sciences, Immunology, Pediatrics +15