Disease: Mental retardation dysmorphism hypogonadism diabetes
- A homozygous Y443C variant in the RNPC3 is associated with severe syndromic congenital hypopituitarism and diffuse brain atrophy
- Apparent but unconfirmed digenism in an Iranian consanguineous family with syndromic Retinal Disease
- Approach to the Patient With Prader-Willi Syndrome
- Biallelic PROKR2 variants and congenital hypogonadotropic hypogonadism: a case report and a literature review
- Combined pituitary hormone deficiency harboring CHD7 gene missense mutation without CHARGE syndrome: a case report
- Disorders of hypothalamic function: Insights from Prader-Willi syndrome and the effects of craniopharyngioma
- Endocrine features of Prader-Willi syndrome: a narrative review focusing on genotype-phenotype correlation
- Endocrine, auxological and metabolic profile in children and adolescents with Down syndrome: from infancy to the first steps into adult life
- Expanding the phenotype of the recurrent truncating eIF2γ pathogenic variant p.(Ile465Serfs*4) identified in two brothers with MEHMO syndrome
- Herlyn-Werner-Wunderlinch: An unusual presentation in a patient with Prader-Willi syndrome
- Hypothalamic neuropeptides and neurocircuitries in Prader Willi syndrome
- Ketogenic diet for refractory epilepsy with MEHMO syndrome: Caution for acute necrotizing pancreatitis
- Klinefelter syndrome: The characterization of the clinical and sociological features of 51 patients
- Megaloblastic Anemia in Bardet-Biedl Syndrome: A Rare Case Report
- Myotonic Dystrophy Type 1
- Obesity in Prader-Willi syndrome: physiopathological mechanisms, nutritional and pharmacological approaches
- Premature adrenarche in Prader-Willi syndrome is associated with accelerated pre-pubertal growth and advanced bone age
- What endocrinologists can do to prevent cardiovascular complications in adults with Prader-Willi syndrome: Lessons from a case series
- Whole exome sequencing and transcript analysis discover a novel pathogenic splice site mutation in DCAF17 gene underlying Woodhouse-Sakati syndrome