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Luca Persani

Showing results (311-320 of 321) with videos related to

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Orphanet Journal of Rare Diseases|March 22, 2017
Developing and evaluating rare disease educational materials co-created by expert clinicians and patients: the paradigm of congenital hypogonadotropic hypogonadism, Corin Badiu, Marco Bonomi, et al.
European Journal of Endocrinology|September 9, 2017
Characteristics of a nationwide cohort of patients presenting with isolated hypogonadotropic hypogonadism (IHH)Marco Bonomi, Valeria Vezzoli, Csilla Krausz, et al.
Endocrine Connections|October 13, 2022
The genetic diagnosis of rare endocrine disorders of sex development and maturation: a survey among Endo-ERN centresLuca Persani, Martine Cools, Stamatina Ioakim, et al.
Nature Communications|December 2, 2023
Selenoprotein deficiency disorder predisposes to aortic aneurysm formationErik Schoenmakers, Federica Marelli, Helle F Jørgensen, et al.
European Journal of Endocrinology|June 3, 2010
Multiple endocrine neoplasia type 2 syndromes (MEN 2): results from the ItaMEN network analysis on the prevalence of different genotypes and phenotypesCristina Romei, Stefano Mariotti, Laura Fugazzola, et al.
Thyroid : Official Journal of the American Thyroid Association|October 13, 2017
Are Evidence-Based Guidelines Reflected in Clinical Practice? An Analysis of Prospectively Collected Data of the Italian Thyroid Cancer ObservatoryLivia Lamartina, Cosimo Durante, Giuseppe Lucisano, et al.
HGG Advances|September 22, 2024
Menke-Hennekam syndrome; delineation of domain-specific subtypes with distinct clinical and DNA methylation profilesSadegheh Haghshenas, Hidde J Bout, Josephine M Schijns, et al.
HGG Advances|March 30, 2024
Menke-Hennekam syndrome; delineation of domain-specific subtypes with distinct clinical and DNA methylation profilesSadegheh Haghshenas, Hidde J Bout, Josephine M Schijns, et al.
Human Molecular Genetics|January 27, 2018
Mutations involving the SRY-related gene SOX8 are associated with a spectrum of human reproductive anomaliesMarie-France Portnoi, Marie-Charlotte Dumargne, Sandra Rojo, et al.
Nature Genetics|November 13, 2012
Loss-of-function mutations in IGSF1 cause an X-linked syndrome of central hypothyroidism and testicular enlargementYu Sun, Beata Bak, Nadia Schoenmakers, et al.
Pageof 33

Showing results (311-320 of 321) with videos related to

Sort By:
Pageof 33
Orphanet Journal of Rare Diseases|March 22, 2017
Developing and evaluating rare disease educational materials co-created by expert clinicians and patients: the paradigm of congenital hypogonadotropic hypogonadism, Corin Badiu, Marco Bonomi, et al.
European Journal of Endocrinology|September 9, 2017
Characteristics of a nationwide cohort of patients presenting with isolated hypogonadotropic hypogonadism (IHH)Marco Bonomi, Valeria Vezzoli, Csilla Krausz, et al.
Endocrine Connections|October 13, 2022
The genetic diagnosis of rare endocrine disorders of sex development and maturation: a survey among Endo-ERN centresLuca Persani, Martine Cools, Stamatina Ioakim, et al.
Nature Communications|December 2, 2023
Selenoprotein deficiency disorder predisposes to aortic aneurysm formationErik Schoenmakers, Federica Marelli, Helle F Jørgensen, et al.
European Journal of Endocrinology|June 3, 2010
Multiple endocrine neoplasia type 2 syndromes (MEN 2): results from the ItaMEN network analysis on the prevalence of different genotypes and phenotypesCristina Romei, Stefano Mariotti, Laura Fugazzola, et al.
Thyroid : Official Journal of the American Thyroid Association|October 13, 2017
Are Evidence-Based Guidelines Reflected in Clinical Practice? An Analysis of Prospectively Collected Data of the Italian Thyroid Cancer ObservatoryLivia Lamartina, Cosimo Durante, Giuseppe Lucisano, et al.
HGG Advances|September 22, 2024
Menke-Hennekam syndrome; delineation of domain-specific subtypes with distinct clinical and DNA methylation profilesSadegheh Haghshenas, Hidde J Bout, Josephine M Schijns, et al.
HGG Advances|March 30, 2024
Menke-Hennekam syndrome; delineation of domain-specific subtypes with distinct clinical and DNA methylation profilesSadegheh Haghshenas, Hidde J Bout, Josephine M Schijns, et al.
Human Molecular Genetics|January 27, 2018
Mutations involving the SRY-related gene SOX8 are associated with a spectrum of human reproductive anomaliesMarie-France Portnoi, Marie-Charlotte Dumargne, Sandra Rojo, et al.
Nature Genetics|November 13, 2012
Loss-of-function mutations in IGSF1 cause an X-linked syndrome of central hypothyroidism and testicular enlargementYu Sun, Beata Bak, Nadia Schoenmakers, et al.
Pageof 33