Discover open access scientific publications

Search, annotate, share and cite publications

Publications by Judith Gerards

A Novel Stop Mutation (P.(Gln22*)) of DAX1 (NR0B1) Results in Late-Onset X-Linked Adrenal Hypoplasia Congenita

Endocrinology, Diabetes and Metabolism Case Reports
Internal MedicineEndocrinologyMetabolismDiabetes
2017English

Related publications

X-Linked Adrenal Hypoplasia Congenita With a Novel DAX1 Missense Mutation

Endocrine Abstracts
2015English

Testicular Microlithiasis in a Boy With X-Linked Adrenal Hypoplasia Congenita

Annals of Pediatric Endocrinology and Metabolism
Child HealthEndocrinologyPerinatologyPediatricsMetabolismDiabetes
2018English

Novel Frameshift Mutation of the NR0B1(DAX1) in Two Tall Adult Brothers

Molecular Biology Reports
MedicineGeneticsMolecular Biology
2019English

Longitudinal Evaluation of the Hypothalamic-Pituitary-Testicular Function in 8 Boys With Adrenal Hypoplasia Congenita (AHC) Due to NR0B1 Mutations

PLoS ONE
Multidisciplinary
2012English

Normal Puberty in X-Linked Cytomegalic Congenital Adrenal Hypoplasia (Ccah)

Pediatric Research
Child HealthPediatricsPerinatology
1993English

X-Linked Inheritance of Congenital Cortisol and Aldosterone Insufficiency (Adrenal Hypoplasia)

Pediatric Research
Child HealthPediatricsPerinatology
1981English

Adrenal Insufficiency Due to X-Linked Adrenoleukodystrophy Diagnosed in Late Adulthood

Endocrine Abstracts
2016English

Late Adult-Onset of X-Linked Myopathy With Excessive Autophagy

Muscle and Nerve
Molecular NeuroscienceNeurologyPhysiologyCellular
2014English

A Novel Mutation of the Arylsulfatase a Gene in Late-Onset Metachromatic Leukodystrophy

Journal of Clinical Psychiatry
MedicinePsychiatryMental Health
2009English

Amanote Research

Note-taking for researchers

Follow Amanote

© 2024 Amaplex Software S.P.R.L. All rights reserved.

Privacy PolicyRefund Policy