Found: 37
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A bone overgrowth disorder due to a gain-offunction mutation in the kinase homology domain of guanylyl cyclase B, the receptor for CNP.
- Published in:
- 2013
- By:
- Publication type:
- Abstract
Prenatal ultrasound finding of atypical genitalia: Counseling, genetic testing and outcomes.
- Published in:
- Prenatal Diagnosis, 2023, v. 43, n. 2, p. 162, doi. 10.1002/pd.6205
- By:
- Publication type:
- Article
Testosterone Therapy and Its Monitoring in Adolescent Boys with Hypogonadism: Results of an International Survey from the I-DSD Registry.
- Published in:
- Sexual Development, 2021, v. 15, n. 4, p. 236, doi. 10.1159/000516784
- By:
- Publication type:
- Article
Multiparameter Investigation of a 46,XX/46,XY Tetragametic Chimeric Phenotypical Male Patient with Bilateral Scrotal Ovotestes and Ovulatory Activity.
- Published in:
- Sexual Development, 2018, v. 12, n. 1-3, p. 145, doi. 10.1159/000479946
- By:
- Publication type:
- Article
Improving Laboratory Assessment in Disorders of Sex Development through a Multidisciplinary Network.
- Published in:
- Sexual Development, 2018, v. 12, n. 1-3, p. 135, doi. 10.1159/000486329
- By:
- Publication type:
- Article
Delayed hemolytic transfusion reaction with hyperhemolysis after first red blood cell transfusion in child with β-thalassemia: challenges in treatment.
- Published in:
- Transfusion, 2010, v. 50, n. 2, p. 429, doi. 10.1111/j.1537-2995.2009.02399.x
- By:
- Publication type:
- Article
Spleen function is reduced in individuals with NR5A1 variants with or without a difference of sex development: a cross-sectional study.
- Published in:
- European Journal of Endocrinology, 2024, v. 190, n. 1, p. 34, doi. 10.1093/ejendo/lvad174
- By:
- Publication type:
- Article
Treatment of congenital adrenal hyperplasia in children aged 0–3 years: a retrospective multicenter analysis of salt supplementation, glucocorticoid and mineralocorticoid medication, growth and blood pressure.
- Published in:
- European Journal of Endocrinology, 2022, v. 186, n. 5, p. 587, doi. 10.1530/EJE-21-1085
- By:
- Publication type:
- Article
A novel variant of FGFR3 causes proportionate short stature.
- Published in:
- European Journal of Endocrinology, 2015, v. 172, n. 6, p. 763, doi. 10.1530/EJE-14-0945
- By:
- Publication type:
- Article
ESPE and PES International Survey of Centers and Clinicians Delivering Specialist Care for Children and Adolescents with Gender Dysphoria.
- Published in:
- Hormone Research in Paediatrics, 2018, v. 90, n. 5, p. 326, doi. 10.1159/000496115
- By:
- Publication type:
- Article
Management of Gonads in Adults with Androgen Insensitivity: An International Survey.
- Published in:
- Hormone Research in Paediatrics, 2018, v. 90, n. 4, p. 236, doi. 10.1159/000493645
- By:
- Publication type:
- Article
Novel Leptin Receptor Mutations Identified in Two Girls with Severe Obesity Are Associated with Increased Bone Mineral Density.
- Published in:
- 2016
- By:
- Publication type:
- Case Study
The Evaluation and Management of Tall Stature.
- Published in:
- Hormone Research in Paediatrics, 2016, v. 85, n. 5, p. 347, doi. 10.1159/000443685
- By:
- Publication type:
- Article
High predictability of impaired glucose tolerance by combining cardiometabolic screening parameters in obese children.
- Published in:
- Journal of Pediatric Endocrinology & Metabolism, 2017, v. 30, n. 2, p. 189, doi. 10.1515/jpem-2016-0289
- By:
- Publication type:
- Article
Optimizing the Timing of Highest Hydrocortisone Dose in Children and Adolescents With 21-Hydroxylase Deficiency.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2022, v. 107, n. 4, p. e1661, doi. 10.1210/clinem/dgab826
- By:
- Publication type:
- Article
Second-tier Testing for 21-Hydroxylase Deficiency in the Netherlands: A Newborn Screening Pilot Study.
- Published in:
- 2021
- By:
- Publication type:
- journal article
Bone Development in Transgender Adolescents Treated With GnRH Analogues and Subsequent Gender-Affirming Hormones.
- Published in:
- 2020
- By:
- Publication type:
- journal article
Response to Letter to the Editor: "Endocrine Treatment of Gender-Dysphoric/Gender-Incongruent Persons: An Endocrine Society Clinical Practice Guideline".
- Published in:
- 2019
- By:
- Publication type:
- journal article
A European Network for the Investigation of Gender Incongruence in adolescents.
- Published in:
- Journal of Sexual Medicine, 2024, v. 21, n. 4, p. 350, doi. 10.1093/jsxmed/qdae014
- By:
- Publication type:
- Article
Children and adolescents in the Amsterdam Cohort of Gender Dysphoria: trends in diagnostic- and treatment trajectories during the first 20 years of the Dutch Protocol.
- Published in:
- Journal of Sexual Medicine, 2023, v. 20, n. 3, p. 398, doi. 10.1093/jsxmed/qdac029
- By:
- Publication type:
- Article
Ovarian insufficiency and pubertal development after hematopoietic stem cell transplantation in childhood.
- Published in:
- Pediatric Blood & Cancer, 2014, v. 61, n. 11, p. 2048, doi. 10.1002/pbc.25162
- By:
- Publication type:
- Article
Residual Activity of Mutant Androgen Receptors Explains Wolffian Duct Development in the Complete Androgen Insensitivity Syndrome.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2004, v. 89, n. 11, p. 5815, doi. 10.1210/jc.2004-0709
- By:
- Publication type:
- Article
Medical decision-making competence regarding puberty suppression: perceptions of transgender adolescents, their parents and clinicians.
- Published in:
- European Child & Adolescent Psychiatry, 2023, v. 32, n. 11, p. 2343, doi. 10.1007/s00787-022-02076-6
- By:
- Publication type:
- Article
Endocrine Treatment of Gender-Dysphoric/Gender-Incongruent Persons: An Endocrine Society Clinical Practice Guideline.
- Published in:
- 2017
- By:
- Publication type:
- journal article
Efficacy and Safety of Pubertal Induction Using 17β-Estradiol in Transgirls.
- Published in:
- 2017
- By:
- Publication type:
- journal article
Birth Weight in Different Etiologies of Disorders of Sex Development.
- Published in:
- 2017
- By:
- Publication type:
- journal article
An activating mutation in the kinase homology domain of the natriuretic Peptide receptor-2 causes extremely tall stature without skeletal deformities.
- Published in:
- 2013
- By:
- Publication type:
- Journal Article
Androgen Excess and Deficiency: Analytical and Diagnostic Approaches.
- Published in:
- Clinical Chemistry, 2023, v. 69, n. 12, p. 1361, doi. 10.1093/clinchem/hvad146
- By:
- Publication type:
- Article
Trajectories of Adolescents Treated with Gonadotropin-Releasing Hormone Analogues for Gender Dysphoria.
- Published in:
- 2020
- By:
- Publication type:
- journal article
Perceptions of Sex, Gender, and Puberty Suppression: A Qualitative Analysis of Transgender Youth.
- Published in:
- 2016
- By:
- Publication type:
- journal article
Clinical but Not Histological Outcomes in Males With 45,X/46,XY Mosaicism Vary Depending on Reason for Diagnosis.
- Published in:
- 2019
- By:
- Publication type:
- journal article
Response to Letter to the Editor: "Clinical but Not Histological Outcomes in Males With 45,X/46,XY Mosaicism Vary Depending on Reason for Diagnosis".
- Published in:
- 2019
- By:
- Publication type:
- journal article
Clinical and Molecular Characteristics May Alter Treatment Strategies of Thyroid Malignancies in DICER1 Syndrome.
- Published in:
- 2018
- By:
- Publication type:
- journal article
Response to letter to the editor: 'Gonadal tumour screening in XY gonadal dysgenesis'.
- Published in:
- 2024
- By:
- Publication type:
- Letter to the Editor
Undetectable anti‐Mullerian hormone and inhibin B do not preclude the presence of germ cell tumours in 45,X/46,XY or 46,XY gonadal dysgenesis.
- Published in:
- Clinical Endocrinology, 2023, v. 99, n. 1, p. 58, doi. 10.1111/cen.14909
- By:
- Publication type:
- Article
Improved growth with growth hormone treatment in children after hematopoietic stem cell transplantation.
- Published in:
- Clinical Endocrinology, 2022, v. 97, n. 5, p. 596, doi. 10.1111/cen.14782
- By:
- Publication type:
- Article
Growth, puberty and testicular function in boys born small for gestational age with a nonspecific disorder of sex development.
- Published in:
- Clinical Endocrinology, 2022, v. 96, n. 2, p. 165, doi. 10.1111/cen.14614
- By:
- Publication type:
- Article