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Simona Bucerzan

Showing results (21-30 of 25) with videos related to

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Diagnostics (Basel, Switzerland)|November 13, 2025
Clinical and Genetic Characterization of Noonan Syndrome in a Romanian Cohort from Transylvania: Details on <i>PTPN11</i> c.922A>G Variant and Phenotypic SpectrumFlorina Victoria Nazarie, Diana Miclea, Crina Șufană, et al.
Hormone Research in Paediatrics|April 17, 2010
Alterations in lipid and carbohydrate metabolism in patients with classic congenital adrenal hyperplasia due to 21-hydroxylase deficiencyAnca Zimmermann, Paula Grigorescu-Sido, Camelia AlKhzouz, et al.
Journal of Inherited Metabolic Disease|September 15, 2012
Dynamic changes of lipid profile in Romanian patients with Gaucher disease type 1 under enzyme replacement therapy: a prospective studyAnca Zimmermann, Paula Grigorescu-Sido, Heidi Rossmann, et al.
International Journal of General Medicine|August 25, 2021
Diagnostic Usefulness of MLPA Techniques for Recurrent Copy Number Variants Detection in Global Developmental Delay/Intellectual DisabilityDiana Miclea, Adriana Szucs, Andreea Mirea, et al.
Diagnostics (Basel, Switzerland)|May 4, 2026
Molecular Diagnosis and Phenotypic Variability of Noonan Syndrome: Experience from a Romanian Multicenter StudyFlorina Victoria Nazarie, Mihaela Amelia Dobrescu, Cecilia Lazea, et al.
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Showing results (21-30 of 25) with videos related to

Sort By:
Pageof 3
You have reached the last page of results.This site can display upto 25 results.
Diagnostics (Basel, Switzerland)|November 13, 2025
Clinical and Genetic Characterization of Noonan Syndrome in a Romanian Cohort from Transylvania: Details on <i>PTPN11</i> c.922A>G Variant and Phenotypic SpectrumFlorina Victoria Nazarie, Diana Miclea, Crina Șufană, et al.
Hormone Research in Paediatrics|April 17, 2010
Alterations in lipid and carbohydrate metabolism in patients with classic congenital adrenal hyperplasia due to 21-hydroxylase deficiencyAnca Zimmermann, Paula Grigorescu-Sido, Camelia AlKhzouz, et al.
Journal of Inherited Metabolic Disease|September 15, 2012
Dynamic changes of lipid profile in Romanian patients with Gaucher disease type 1 under enzyme replacement therapy: a prospective studyAnca Zimmermann, Paula Grigorescu-Sido, Heidi Rossmann, et al.
International Journal of General Medicine|August 25, 2021
Diagnostic Usefulness of MLPA Techniques for Recurrent Copy Number Variants Detection in Global Developmental Delay/Intellectual DisabilityDiana Miclea, Adriana Szucs, Andreea Mirea, et al.
Diagnostics (Basel, Switzerland)|May 4, 2026
Molecular Diagnosis and Phenotypic Variability of Noonan Syndrome: Experience from a Romanian Multicenter StudyFlorina Victoria Nazarie, Mihaela Amelia Dobrescu, Cecilia Lazea, et al.
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