Concepedia
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Publications
2
Citations
27
H-Index
Active since
2021
Affiliations
Centogene (Germany)(Current)
Pilar Guatibonza Moreno is an author at Centogene (Germany).
Publications per year
2021–2023
At a glance: the largest Niemann-Pick type C1 cohort with 602 patients diagnosed over 15 years
Pilar Guatibonza Moreno, Luba M. Pardo, Catarina Pereira et al. · European Journal of Human Genetics · 2023 · 16 citations · Full text
Whole Exome Sequencing in a Series of Patients with a Clinical Diagnosis of Tuberous Sclerosis Not Confirmed by Targeted TSC1/TSC2 Sequencing
Erzsébet Kövesdi, Réka Ripszám, Etelka Pöstyéni et al. · Genes · 2021 · 11 citations · Full text
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