Gabriella E. Gazdagh

Southampton, ENG, United Kingdom

Last Updated: 09/26/2026

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Found 20 publications

Temple syndrome - an under-recognised multi-system growth disorder: large cohort analysis and proposed scoring system.

Temple syndrome - an under-recognised multi-system growth disorder: large cohort analysis and proposed scoring system.

Journal: The Journal of clinical endocrinology and metabolism

Published: May 06, 2026

Adiposity rebound and height velocity in patients with congenital adrenal hyperplasia.

Adiposity rebound and height velocity in patients with congenital adrenal hyperplasia.

Journal: European journal of endocrinology

Published: October 16, 2025

Biallelic variants in RNU2-2 cause a remarkably frequent developmental and epileptic encephalopathy.

Biallelic variants in RNU2-2 cause a remarkably frequent developmental and epileptic encephalopathy.

Journal: Nature genetics

Published: September 02, 2025

Gonadal Function and Its Evolution in 46,XX Testicular/Ovotesticular DSD.

Gonadal Function and Its Evolution in 46,XX Testicular/Ovotesticular DSD.

Journal: The Journal of clinical endocrinology and metabolism

Published: July 30, 2025

Blood pressure and its associations in 554 children and young people with congenital adrenal hyperplasia.

Blood pressure and its associations in 554 children and young people with congenital adrenal hyperplasia.

Journal: European journal of endocrinology

Published: December 02, 2024

Phenotypic Variation and Pubertal Outcomes in Males and Females With 46,XY Partial Gonadal Dysgenesis.

Phenotypic Variation and Pubertal Outcomes in Males and Females With 46,XY Partial Gonadal Dysgenesis.

Journal: The Journal of clinical endocrinology and metabolism

Published: November 21, 2024

Multi-locus imprinting disturbance (MLID): interim joint statement for clinical and molecular diagnosis.

Multi-locus imprinting disturbance (MLID): interim joint statement for clinical and molecular diagnosis.

Journal: Clinical epigenetics

Published: April 25, 2024

FILIP1-associated neuromuscular disorder and phenotypic blending due to paternal UPD6.

FILIP1-associated neuromuscular disorder and phenotypic blending due to paternal UPD6.

Journal: Brain communications

Published: March 12, 2024

SEC31A may be associated with pituitary hormone deficiency and gonadal dysgenesis.

SEC31A may be associated with pituitary hormone deficiency and gonadal dysgenesis.

Journal: Endocrine

Published: November 10, 2023

A case of mosaic deletion of paternally-inherited PLAGL1 and two cases of upd(6)mat add to evidence for PLAGL1 under-expression as a cause of growth restriction.

A case of mosaic deletion of paternally-inherited PLAGL1 and two cases of upd(6)mat add to evidence for PLAGL1 under-expression as a cause of growth restriction.

Journal: American journal of medical genetics. Part A

Published: May 04, 2023

Predictors of surgical complications in boys with hypospadias: data from an internationa registry.

Predictors of surgical complications in boys with hypospadias: data from an internationa registry.

Journal: World journal of pediatric surgery

Published: March 24, 2023

Extending the phenotypes associated with TRIO gene variants in a cohort of 25 patients and review of the literature.

Extending the phenotypes associated with TRIO gene variants in a cohort of 25 patients and review of the literature.

Journal: American journal of medical genetics. Part A

Published: December 02, 2022

Showing 1-12 of 20

Last Updated: 09/26/2026