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Showing results (11-20 of 44) with videos related to
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Molecular Syndromology
|
June 14, 2019
Novel Mutations and Unreported Clinical Features in KBG Syndrome
Emanuela Scarano, Martina Tassone, Claudio Graziano, et al.
Endocrine
|
December 28, 2014
The association with Turner syndrome significantly affects the course of Hashimoto's thyroiditis in children, irrespective of karyotype
Tommaso Aversa, Maria Francesca Messina, Laura Mazzanti, et al.
American Journal of Medical Genetics. Part A
|
August 1, 2015
Response to long-term growth hormone therapy in patients affected by RASopathies and growth hormone deficiency: Patterns of growth, puberty and final height data
Federica Tamburrino, Dino Gibertoni, Cesare Rossi, et al.
Endocrine
|
June 9, 2017
New insights on diabetes in Turner syndrome: results from an observational study in adulthood
Daniela Ibarra-Gasparini, Paola Altieri, Emanuela Scarano, et al.
Pediatric Endocrinology Reviews : PER
|
September 6, 2012
Turner syndrome strategies to improve care outcomes--cardiac evaluation using new imaging techniques
Laura Mazzanti, Luigi Lovato, Daniela Prandstraller, et al.
American Journal of Medical Genetics. Part A
|
May 10, 2005
Gonadoblastoma in Turner syndrome and Y-chromosome-derived material
Laura Mazzanti, Alessandro Cicognani, Lilia Baldazzi, et al.
Brain and Behavior
|
May 12, 2025
Life Beyond Childhood: Insight Into the Lived Experience of 91 Adults With KBG Syndrome Through an Online Patient/Caregiver-Reported Co-Produced Questionnaire
Karen J Low, Moira Walker, Georgia Treneman-Evans, et al.
Frontiers in Endocrinology
|
August 17, 2023
Lipid profile in Noonan syndrome and related disorders: trend by age, sex and genotype
Federica Tamburrino, Laura Mazzanti, Emanuela Scarano, et al.
Hormone Research in Paediatrics
|
February 8, 2014
Epidemiology, presentation and long-term evolution of Graves' disease in children, adolescents and young adults with Turner syndrome
Mariella Valenzise, Tommaso Aversa, Andrea Corrias, et al.
Gene
|
May 16, 2019
Challenges in the clinical interpretation of small de novo copy number variants in neurodevelopmental disorders
Pamela Magini, Emanuela Scarano, Ilaria Donati, et al.
Page
of 5
Search research articles
Search
Showing results (11-20 of 44) with videos related to
Sort By:
Page
of 5
Molecular Syndromology
|
June 14, 2019
Novel Mutations and Unreported Clinical Features in KBG Syndrome
Emanuela Scarano, Martina Tassone, Claudio Graziano, et al.
Endocrine
|
December 28, 2014
The association with Turner syndrome significantly affects the course of Hashimoto's thyroiditis in children, irrespective of karyotype
Tommaso Aversa, Maria Francesca Messina, Laura Mazzanti, et al.
American Journal of Medical Genetics. Part A
|
August 1, 2015
Response to long-term growth hormone therapy in patients affected by RASopathies and growth hormone deficiency: Patterns of growth, puberty and final height data
Federica Tamburrino, Dino Gibertoni, Cesare Rossi, et al.
Endocrine
|
June 9, 2017
New insights on diabetes in Turner syndrome: results from an observational study in adulthood
Daniela Ibarra-Gasparini, Paola Altieri, Emanuela Scarano, et al.
Pediatric Endocrinology Reviews : PER
|
September 6, 2012
Turner syndrome strategies to improve care outcomes--cardiac evaluation using new imaging techniques
Laura Mazzanti, Luigi Lovato, Daniela Prandstraller, et al.
American Journal of Medical Genetics. Part A
|
May 10, 2005
Gonadoblastoma in Turner syndrome and Y-chromosome-derived material
Laura Mazzanti, Alessandro Cicognani, Lilia Baldazzi, et al.
Brain and Behavior
|
May 12, 2025
Life Beyond Childhood: Insight Into the Lived Experience of 91 Adults With KBG Syndrome Through an Online Patient/Caregiver-Reported Co-Produced Questionnaire
Karen J Low, Moira Walker, Georgia Treneman-Evans, et al.
Frontiers in Endocrinology
|
August 17, 2023
Lipid profile in Noonan syndrome and related disorders: trend by age, sex and genotype
Federica Tamburrino, Laura Mazzanti, Emanuela Scarano, et al.
Hormone Research in Paediatrics
|
February 8, 2014
Epidemiology, presentation and long-term evolution of Graves' disease in children, adolescents and young adults with Turner syndrome
Mariella Valenzise, Tommaso Aversa, Andrea Corrias, et al.
Gene
|
May 16, 2019
Challenges in the clinical interpretation of small de novo copy number variants in neurodevelopmental disorders
Pamela Magini, Emanuela Scarano, Ilaria Donati, et al.
Page
of 5