International Journal of Endocrinology and Metabolism
Research Institute for Endocrine Sciences
Crossref
1. Advancing in Schaaf-Yang syndrome pathophysiology: from bedside to subcellular analyses of truncated MAGEL2
- Laura Castilla-Vallmanya
- Mónica Centeno-Pla
- Mercedes Serrano
- Héctor Franco-Valls
- Raúl Martínez-Cabrera
- Aina Prat-Planas
- Elena Rojano
- Juan A G Ranea
- Pedro Seoane
- Clara Oliva
- Abraham J Paredes-Fuentes
- Gemma Marfany
- Rafael Artuch
- Daniel Grinberg
- Raquel Rabionet
- Susanna Balcells
- Roser Urreizti
2. Case Report: Schaaf-Yang Syndrome Milder Phenotype Due to Potential Pathogenic Novel Missense Variant as an Unusual Cause of Obesity in a Pediatric Patient
- Dalibor Pastucha
- Darina Aleksijevic
- Jiri Hyjanek
- Ondrej Vesely
- Eva Klaskova
- Kristyna Kolarikova
- Radek Vodicka
3. Schaaf-Yang Syndrome: A Real Challenge for Prenatal Diagnosis
- Sara Nunes
- Marta Xavier
- Cátia Lourenço
- Mónica Melo
- Cristina Godinho