Concepedia
Statistics
Publications
9
Citations
487
H-Index
Active since
2015
Affiliations
Leiden University Medical Center(Current)
Radboud University Nijmegen
Radboud University Medical Center
University Medical Center Utrecht
University of Groningen
Karin van der Tuin is an author at Leiden University Medical Center specializing in genetics, neonatology, and bioinformatics.
Top concepts
GeneticsGenomicsMedicinePediatricsSequencingNeonatologyBioinformaticsNewborn ScreeningGenetic Epidemiology
Publications per year
2015–2021
Phenotype and genotype in 103 patients with tricho-rhino-phalangeal syndrome
Saskia M. Maas, Adam Shaw, Hennie Bikker et al. · European Journal of Medical Genetics · 2015 · 119 citations · Full text
Tricho-rhino-phalangeal Syndrome, Genetics, Genetic Epidemiology +1
CDC73-Related Disorders: Clinical Manifestations and Case Detection in Primary Hyperparathyroidism
Karin van der Tuin, Carli M.J. Tops, Muriel A. Adank et al. · The Journal of Clinical Endocrinology & Metabolism · 2017 · 96 citations · Full text
Clinical Aspects of SDHA-Related Pheochromocytoma and Paraganglioma: A Nationwide Study
Karin van der Tuin, Arjen R. Mensenkamp, Carli M.J. Tops et al. · The Journal of Clinical Endocrinology & Metabolism · 2017 · 78 citations · Full text
Surveillance recommendations for DICER1 pathogenic variant carriers: a report from the SIOPE Host Genome Working Group and CanGene-CanVar Clinical Guideline Working Group
Jette J. Bakhuizen, Helen Hanson, Karin van der Tuin et al. · Familial Cancer · 2021 · 49 citations · Full text
Targetable gene fusions identified in radioactive iodine refractory advanced thyroid carcinoma
Karin van der Tuin, Marie-Eve Garcia, Willem E. Corver et al. · European Journal of Endocrinology · 2019 · 41 citations · Full text
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