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Pietro Maffei

Showing results (81-90 of 97) with videos related to

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Human Mutation|June 28, 2007
Spectrum of ALMS1 variants and evaluation of genotype-phenotype correlations in Alström syndromeJan D Marshall, Elizabeth G Hinman, Gayle B Collin, et al.
The Journal of Clinical Endocrinology and Metabolism|June 13, 2025
Defining puberty and spectrum of hypogonadism in Alström SyndromeSadaf Ali, Qianwen Zhang, Ijeoma Anwunah, et al.
Endocrine|July 2, 2022
Psychological complications in patients with acromegaly: relationships with sex, arthropathy, and quality of lifeBiagio Cangiano, Emanuele Giusti, Caterina Premoli, et al.
Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association|October 12, 2018
Defining renal phenotype in Alström syndromeShanat Baig, Richard Paisey, Charlotte Dawson, et al.
European Journal of Endocrinology|January 10, 2022
Italian Association of Clinical Endocrinologists (AME) and International Chapter of Clinical Endocrinology (ICCE). Position statement for clinical practice: prolactin-secreting tumorsRenato Cozzi, Maria Rosaria Ambrosio, Roberto Attanasio, et al.
Archives of Internal Medicine|March 30, 2005
New Alström syndrome phenotypes based on the evaluation of 182 casesJan D Marshall, Roderick T Bronson, Gayle B Collin, et al.
Orphanet Journal of Rare Diseases|September 22, 2020
Consensus clinical management guidelines for Alström syndromeNatascia Tahani, Pietro Maffei, Hélène Dollfus, et al.
Plos One|January 15, 2016
Mutation Detection in Patients with Retinal Dystrophies Using Targeted Next Generation SequencingNicole Weisschuh, Anja K Mayer, Tim M Strom, et al.
European Journal of Human Genetics : EJHG|July 31, 2024
Bardet-Biedl syndrome improved diagnosis criteria and management: Inter European Reference Networks consensus statement and recommendationsHélène Dollfus, Marc R Lilien, Pietro Maffei, et al.
Endocrine Connections|April 10, 2026
Mapping Transition of Care for Rare Endocrine Conditions: Findings from a Cross-Sectional Survey by the Endo-ERN ToC Working GroupFrancesco Carlomagno, Matteo Spaziani, Charlotte M W Gaasterland, et al.
Pageof 10

Showing results (81-90 of 97) with videos related to

Sort By:
Pageof 10
Human Mutation|June 28, 2007
Spectrum of ALMS1 variants and evaluation of genotype-phenotype correlations in Alström syndromeJan D Marshall, Elizabeth G Hinman, Gayle B Collin, et al.
The Journal of Clinical Endocrinology and Metabolism|June 13, 2025
Defining puberty and spectrum of hypogonadism in Alström SyndromeSadaf Ali, Qianwen Zhang, Ijeoma Anwunah, et al.
Endocrine|July 2, 2022
Psychological complications in patients with acromegaly: relationships with sex, arthropathy, and quality of lifeBiagio Cangiano, Emanuele Giusti, Caterina Premoli, et al.
Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association|October 12, 2018
Defining renal phenotype in Alström syndromeShanat Baig, Richard Paisey, Charlotte Dawson, et al.
European Journal of Endocrinology|January 10, 2022
Italian Association of Clinical Endocrinologists (AME) and International Chapter of Clinical Endocrinology (ICCE). Position statement for clinical practice: prolactin-secreting tumorsRenato Cozzi, Maria Rosaria Ambrosio, Roberto Attanasio, et al.
Archives of Internal Medicine|March 30, 2005
New Alström syndrome phenotypes based on the evaluation of 182 casesJan D Marshall, Roderick T Bronson, Gayle B Collin, et al.
Orphanet Journal of Rare Diseases|September 22, 2020
Consensus clinical management guidelines for Alström syndromeNatascia Tahani, Pietro Maffei, Hélène Dollfus, et al.
Plos One|January 15, 2016
Mutation Detection in Patients with Retinal Dystrophies Using Targeted Next Generation SequencingNicole Weisschuh, Anja K Mayer, Tim M Strom, et al.
European Journal of Human Genetics : EJHG|July 31, 2024
Bardet-Biedl syndrome improved diagnosis criteria and management: Inter European Reference Networks consensus statement and recommendationsHélène Dollfus, Marc R Lilien, Pietro Maffei, et al.
Endocrine Connections|April 10, 2026
Mapping Transition of Care for Rare Endocrine Conditions: Findings from a Cross-Sectional Survey by the Endo-ERN ToC Working GroupFrancesco Carlomagno, Matteo Spaziani, Charlotte M W Gaasterland, et al.
Pageof 10