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Human Mutation
|
August 21, 2015
A Novel Mutation in RPL10 (Ribosomal Protein L10) Causes X-Linked Intellectual Disability, Cerebellar Hypoplasia, and Spondylo-Epiphyseal Dysplasia
Ginevra Zanni, Vera M Kalscheuer, Andreas Friedrich, et al.
Pediatric Research
|
March 7, 2003
Molecular analysis of the GNAS1 gene for the correct diagnosis of Albright hereditary osteodystrophy and pseudohypoparathyroidism
Luisa De Sanctis, Damiano Romagnolo, Martina Olivero, et al.
Hormone Research in Paediatrics
|
June 19, 2026
Risk of Thyroid Cancer in Children, Adolescents and Young Adults with Hashimoto Thyroiditis: a 27 Years Follow-up Study
Giorgio Radetti, Fiorenzo Lupi, Sandro Loche, et al.
Frontiers in Endocrinology
|
January 10, 2022
Growth in Children With Noonan Syndrome and Effects of Growth Hormone Treatment on Adult Height
Annachiara Libraro, Vito D'Ascanio, Marco Cappa, et al.
European Journal of Endocrinology
|
May 26, 2023
Towards an individualized management of pubertal induction in girls with hypogonadism: insight into the best replacement outcomes from a large multicentre registry
Giulia Rodari, Silvia Federici, Tommaso Todisco, et al.
Frontiers in Endocrinology
|
August 17, 2019
Accuracy and Limitations of the Growth Hormone (GH) Releasing Hormone-Arginine Retesting in Young Adults With Childhood-Onset GH Deficiency
Giuseppa Patti, Serena Noli, Donatella Capalbo, et al.
American Journal of Medical Genetics. Part A
|
March 4, 2020
KBG syndrome: Common and uncommon clinical features based on 31 new patients
Maria Gnazzo, Francesca R Lepri, Maria Lisa Dentici, et al.
The Journal of Clinical Endocrinology and Metabolism
|
November 4, 2011
Frequent TSH receptor genetic alterations with variable signaling impairment in a large series of children with nonautoimmune isolated hyperthyrotropinemia
Davide Calebiro, Giulia Gelmini, Daniela Cordella, et al.
The Journal of Clinical Endocrinology and Metabolism
|
November 28, 2020
Primary Adrenal Insufficiency in Childhood: Data From a Large Nationwide Cohort
Donatella Capalbo, Cristina Moracas, Marco Cappa, et al.
Clinical Immunology (Orlando, Fla.)
|
September 19, 2017
Severe Toxoplasma gondii infection in a member of a NFKB2-deficient family with T and B cell dysfunction
Maria-Elena Maccari, Alessia Scarselli, Silvia Di Cesare, et al.
Page
of 21
Search research articles
Search
Showing results (181-190 of 207) with videos related to
Sort By:
Page
of 21
Human Mutation
|
August 21, 2015
A Novel Mutation in RPL10 (Ribosomal Protein L10) Causes X-Linked Intellectual Disability, Cerebellar Hypoplasia, and Spondylo-Epiphyseal Dysplasia
Ginevra Zanni, Vera M Kalscheuer, Andreas Friedrich, et al.
Pediatric Research
|
March 7, 2003
Molecular analysis of the GNAS1 gene for the correct diagnosis of Albright hereditary osteodystrophy and pseudohypoparathyroidism
Luisa De Sanctis, Damiano Romagnolo, Martina Olivero, et al.
Hormone Research in Paediatrics
|
June 19, 2026
Risk of Thyroid Cancer in Children, Adolescents and Young Adults with Hashimoto Thyroiditis: a 27 Years Follow-up Study
Giorgio Radetti, Fiorenzo Lupi, Sandro Loche, et al.
Frontiers in Endocrinology
|
January 10, 2022
Growth in Children With Noonan Syndrome and Effects of Growth Hormone Treatment on Adult Height
Annachiara Libraro, Vito D'Ascanio, Marco Cappa, et al.
European Journal of Endocrinology
|
May 26, 2023
Towards an individualized management of pubertal induction in girls with hypogonadism: insight into the best replacement outcomes from a large multicentre registry
Giulia Rodari, Silvia Federici, Tommaso Todisco, et al.
Frontiers in Endocrinology
|
August 17, 2019
Accuracy and Limitations of the Growth Hormone (GH) Releasing Hormone-Arginine Retesting in Young Adults With Childhood-Onset GH Deficiency
Giuseppa Patti, Serena Noli, Donatella Capalbo, et al.
American Journal of Medical Genetics. Part A
|
March 4, 2020
KBG syndrome: Common and uncommon clinical features based on 31 new patients
Maria Gnazzo, Francesca R Lepri, Maria Lisa Dentici, et al.
The Journal of Clinical Endocrinology and Metabolism
|
November 4, 2011
Frequent TSH receptor genetic alterations with variable signaling impairment in a large series of children with nonautoimmune isolated hyperthyrotropinemia
Davide Calebiro, Giulia Gelmini, Daniela Cordella, et al.
The Journal of Clinical Endocrinology and Metabolism
|
November 28, 2020
Primary Adrenal Insufficiency in Childhood: Data From a Large Nationwide Cohort
Donatella Capalbo, Cristina Moracas, Marco Cappa, et al.
Clinical Immunology (Orlando, Fla.)
|
September 19, 2017
Severe Toxoplasma gondii infection in a member of a NFKB2-deficient family with T and B cell dysfunction
Maria-Elena Maccari, Alessia Scarselli, Silvia Di Cesare, et al.
Page
of 21