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Publications by Shoshana Rath

Extreme Short Stature and Severe Neurological Impairment in a 17-Year-Old Male With Untreated Combined Pituitary Hormone Deficiency Due to POU1F1 Mutation

Frontiers in Endocrinology
EndocrinologyMetabolismDiabetes
2019English

Related publications

A Novel KAL1 Mutation Is Associated With Combined Pituitary Hormone Deficiency

Human Genome Variation
BiochemistryGeneticsMolecular Biology
2014English

Short Stature-Delayed Bone Age Due to Thyroid Hormone Metabolism Deficiency

2020English

Two Patients With Severe Short Stature Due to a FBN1 Mutation (p.Ala1728Val) With a Mild Form of Acromicric Dysplasia

Hormone Research in Paediatrics
Child HealthEndocrinologyPerinatologyPediatricsMetabolismDiabetes
2016English

A Novel E250X Mutation of the PIT1 Gene in a Patient With Combined Pituitary Hormone Deficiency.

Endocrine Journal
EndocrinologyMetabolismDiabetes
1995English

Non-Acquired Combined Pituitary Hormone Deficiency

2020English

Severe Combined Immunodeficiency Due to CARD11 Deficiency

2020English

Multiple Pituitary Hormone Deficiency: Beware of Combined Hormones Deficiency

International Journal of Pediatric Endocrinology
Child HealthEndocrinologyPerinatologyPediatricsMetabolismDiabetes
2013English

Severe Combined Immunodeficiency Due to DNA-PKcs Deficiency

2020English

T-B Severe Combined Immunodeficiency Due to JAK3 Deficiency

2020English

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