International Journal of Endocrinology and Metabolism
Research Institute for Endocrine Sciences
Scopus by Title (Ref)
1. Case Report: Schaaf-Yang Syndrome Milder Phenotype Due to Potential Pathogenic Novel Missense Variant as an Unusual Cause of Obesity in a Pediatric Patient
- Pastucha D. , et al.
2. Diagnostic Challenges of Short Stature and Growth Hormone Insufficiency Across Different Genetic Etiologies
- Arzilli F. , et al.
3. MAGEL2 (patho-)physiology and Schaaf–Yang syndrome
- Schubert T. , et al.
4. Schaaf-yang syndrome: Clinical phenotype and effects of 4 years of growth hormone treatment
- Juriaans A.F. , et al.
5. Advancing in Schaaf-Yang syndrome pathophysiology: From bedside to subcellular analyses of truncated MAGEL2
- Castilla-Vallmanya L. , et al.
6. Heterozygous variants in SIX3 and POU1F1 cause pituitary hormone deficiency in mouse and man
- Bando H. , et al.
8. Genotypic and phenotypic relationship between Prader-Willi and Prader-Willi-Like syndromes
- Fonseca L.L.C.G. , et al.
9. The Spectrum of the Prader-Willi-like Pheno-and Genotype: A Review of the Literature
- Juriaans A.F. , et al.
10. Case report: Schaag yang syndrome
- Wilches B.E.C. , et al.
11. Expanding the spectrum of endocrinopathies identified in Schaaf-Yang syndrome - A case report and review of the literature
- Halloun R. , et al.
12. Emerging roles of the MAGE protein family in stress response pathways
- Florke Gee R.R. , et al.
13. Schaaf-Yang syndrome shows a Prader-Willi syndrome-like phenotype during infancy
- Negishi Y. , et al.
14. MAGEL2-related disorders: A study and case series
- Patak J. , et al.