Found: 267
Select item for more details and to access through your institution.
Kallmann Syndrome in a pediatric patient with delayed puberty in Mexico: case report.
- Published in:
- Revista Mexicana de Endocrinología, Metabolismo y Nutrición, 2024, v. 11, n. 3, p. 106, doi. 10.24875/RME.23000045
- By:
- Publication type:
- Article
Moyamoya angiopathy in a case of Klinefelter syndrome.
- Published in:
- 2022
- By:
- Publication type:
- Case Study
Arachnoid cyst: a further anomaly associated with Kallmann syndrome?
- Published in:
- Child's Nervous System, 2016, v. 32, n. 9, p. 1607, doi. 10.1007/s00381-016-3154-7
- By:
- Publication type:
- Article
Arachnoid cyst: a further anomaly associated with Kallmann syndrome?
- Published in:
- 2016
- By:
- Publication type:
- Letter
Does hormonal therapy improve sperm retrieval rates in men with non-obstructive azoospermia: a systematic review and meta-analysis.
- Published in:
- 2022
- By:
- Publication type:
- journal article
An Uncommon Association of Kallmann Syndrome and Arachnoid Cysts: A Case Report.
- Published in:
- Central European Journal of Paediatrics, 2021, v. 17, n. 2, p. 114, doi. 10.5457/p2005-114.298
- By:
- Publication type:
- Article
Deletion in RMST lncRNA impairs hypothalamic neuronal development in a human stem cell-based model of Kallmann Syndrome.
- Published in:
- Cell Death Discovery, 2024, v. 10, n. 1, p. 1, doi. 10.1038/s41420-024-02074-4
- By:
- Publication type:
- Article
Mosaic trisomy 13 and constitutional delay in puberty.
- Published in:
- Oxford Medical Case Reports, 2022, v. 2022, n. 5, p. 1, doi. 10.1093/omcr/omac046
- By:
- Publication type:
- Article
Clinical, endocrinological, and molecular characterization of Kallmann syndrome and normosmic idiopathic hypogonadotropic hypogonadism: a single center experience.
- Published in:
- Annals of Pediatric Endocrinology & Metabolism, 2015, v. 20, n. 1, p. 27, doi. 10.6065/apem.2015.20.1.27
- By:
- Publication type:
- Article
Point mutations in KAL1 and the mitochondrial gene MT-tRNA<sup>cys</sup> synergize to produce Kallmann syndrome phenotype.
- Published in:
- Scientific Reports, 2015, p. 13050, doi. 10.1038/srep13050
- By:
- Publication type:
- Article
The Role of Proteostasis Derailment in Cardiac Diseases.
- Published in:
- 2020
- By:
- Publication type:
- Editorial
Nasal Reconstruction in a Rare Case of Unilateral Arhinia in Bosma Arhinia Microphthalmia Syndrome.
- Published in:
- Turkish Journal of Plastic Surgery, 2024, v. 32, n. 1, p. 38, doi. 10.4103/tjps.tjps_53_23
- By:
- Publication type:
- Article
Serum levels of enclomiphene and zuclomiphene in men with hypogonadism on long-term clomiphene citrate treatment.
- Published in:
- BJU International, 2017, v. 119, n. 1, p. 171, doi. 10.1111/bju.13625
- By:
- Publication type:
- Article
Congenital Hypogonadotropic Hypogonadism and Kallmann Syndrome: Past, Present, and Future.
- Published in:
- Endocrinology & Metabolism, 2015, v. 30, n. 4, p. 456, doi. 10.3803/EnM.2015.30.4.456
- By:
- Publication type:
- Article
Recovery from hypogonadism and male health in adult allogeneic stem cell transplantation.
- Published in:
- European Journal of Haematology, 2018, v. 100, n. 6, p. 584, doi. 10.1111/ejh.13052
- By:
- Publication type:
- Article
Association of Receptor Activator of Nuclear Factor-κB Ligand (RANKL) and Osteoprotegerin with Secondary Hypogonadism in Egyptian Females with Beta-Thalassemia Major.
- Published in:
- Egyptian Journal of Hospital Medicine, 2021, v. 82, n. 2, p. 369
- By:
- Publication type:
- Article
Severe obesity, hypogonadotropic hypogonadism and a WDR11 gene mutation.
- Published in:
- QJM: An International Journal of Medicine, 2022, v. 115, n. 3, p. 160, doi. 10.1093/qjmed/hcab279
- By:
- Publication type:
- Article
GnRH stimulation testing and serum inhibin B in males: insufficient specificity for discriminating between congenital hypogonadotropic hypogonadism from constitutional delay of growth and puberty.
- Published in:
- 2020
- By:
- Publication type:
- journal article
New intronic Fibroblast Growth Factor Receptor 1 (FGFR1) mutation leading to disrupted splicing and Kallmann syndrome.
- Published in:
- 2018
- By:
- Publication type:
- journal article
Expanding the genetic spectrum of ANOS1 mutations in patients with congenital hypogonadotropic hypogonadism.
- Published in:
- 2017
- By:
- Publication type:
- journal article
A case of Kallmann syndrome carrying a missense mutation in alternatively spliced exon 8A encoding the immunoglobulin-like domain IIIb of fibroblast growth factor receptor 1.
- Published in:
- 2010
- By:
- Publication type:
- journal article
Alteration in the Expression of Parkinson's-Related Genes in Rat Hippocampus by Exercise and Morphine Treatments.
- Published in:
- Russian Journal of Genetics, 2020, v. 56, n. 4, p. 502, doi. 10.1134/S1022795420040122
- By:
- Publication type:
- Article
Case report: Novel SIN3A loss-of-function variant as causative for hypogonadotropic hypogonadism in Witteveen-Kolk syndrome.
- Published in:
- Frontiers in Genetics, 2024, p. 1, doi. 10.3389/fgene.2024.1354715
- By:
- Publication type:
- Article
Good Outcome for an Individual with Severe Facial Anomalies and Hypogonadotropic Hypogonadism: A Consequence of His Cognitive Function, Pragmatic Approach, and Temperament.
- Published in:
- Case Reports in Pediatrics, 2021, p. 1, doi. 10.1155/2021/9957218
- By:
- Publication type:
- Article
Parallel Multi-Gene Panel Testing for Diagnosis of Idiopathic Hypogonadotropic Hypogonadism/Kallmann Syndrome.
- Published in:
- Case Reports in Genetics, 2019, p. 1, doi. 10.1155/2019/4218514
- By:
- Publication type:
- Article
Clinical phenotype of a Kallmann syndrome patient with IL17RD and CPEB4 variants.
- Published in:
- Frontiers in Endocrinology, 2024, p. 01, doi. 10.3389/fendo.2024.1343977
- By:
- Publication type:
- Article
Abstract 50: Kallmann syndrome: Case report.
- Published in:
- Indian Journal of Endocrinology & Metabolism, 2022, v. 26, p. 21, doi. 10.4103/2230-8210.363738
- By:
- Publication type:
- Article
Reversible Kallmann Syndrome: Rare Yet Real.
- Published in:
- Indian Journal of Endocrinology & Metabolism, 2019, v. 23, n. 3, p. 382, doi. 10.4103/ijem.IJEM_199_19
- By:
- Publication type:
- Article
Correlation of Olfactory Phenotype by Indian Smell Identification Test and Quantitative MRI of Olfactory Apparatus in Idiopathic Hypogonadotropic Hypogonadism.
- Published in:
- Indian Journal of Endocrinology & Metabolism, 2019, v. 23, n. 3, p. 367, doi. 10.4103/ijem.IJEM_28_19
- By:
- Publication type:
- Article
Kallmann syndrome: MRI findings.
- Published in:
- Indian Journal of Endocrinology & Metabolism, 2013, v. 17, n. S1, p. S142, doi. 10.4103/2230-8210.119536
- By:
- Publication type:
- Article
Load-induced regulation of tendon homeostasis by SPARC, a genetic predisposition factor for tendon and ligament injuries.
- Published in:
- Science Translational Medicine, 2021, v. 13, n. 582, p. 1, doi. 10.1126/scitranslmed.abe5738
- By:
- Publication type:
- Article
Isolated olfactory bulb agenesis: a case report.
- Published in:
- 2022
- By:
- Publication type:
- Case Study
Minipuberta - významné a dosud opomíjené období pohlavního vývoje.
- Published in:
- Czecho-Slovak Pediatrics / Česko-Slovenská Pediatrie, 2022, v. 77, p. 5
- By:
- Publication type:
- Article
Cortical interneuron development is affected in 4H leukodystrophy.
- Published in:
- Brain: A Journal of Neurology, 2023, v. 146, n. 7, p. 2846, doi. 10.1093/brain/awad017
- By:
- Publication type:
- Article
Smelling TNT: Trends of the Terminal Nerve.
- Published in:
- International Journal of Molecular Sciences, 2024, v. 25, n. 7, p. 3920, doi. 10.3390/ijms25073920
- By:
- Publication type:
- Article
Genetic Analysis of Patients with Congenital Hypogonadotropic Hypogonadism: A Case Series.
- Published in:
- International Journal of Molecular Sciences, 2023, v. 24, n. 8, p. 7428, doi. 10.3390/ijms24087428
- By:
- Publication type:
- Article
Mechanisms of Central Hypogonadism.
- Published in:
- International Journal of Molecular Sciences, 2021, v. 22, n. 15, p. 8217, doi. 10.3390/ijms22158217
- By:
- Publication type:
- Article
A Sprouty4 Mutation Identified in Kallmann Syndrome Increases the Inhibitory Potency of the Protein towards FGF and Connected Processes.
- Published in:
- International Journal of Molecular Sciences, 2021, v. 22, n. 4, p. 2145, doi. 10.3390/ijms22042145
- By:
- Publication type:
- Article
Successful pregnancy and delivery after ovulation induction therapy in a woman with congenital hypogonadotropic hypogonadism: a case report.
- Published in:
- 2023
- By:
- Publication type:
- Case Study
Gender-Diverse Youth with Turner Syndrome: Special Management Considerations.
- Published in:
- JCEM Case Reports, 2024, v. 2, n. 5, p. 1, doi. 10.1210/jcemcr/luae076
- By:
- Publication type:
- Article
A Challenging Case of Diabetes in a Patient With XXYY Syndrome.
- Published in:
- JCEM Case Reports, 2024, v. 2, n. 4, p. 1, doi. 10.1210/jcemcr/luae014
- By:
- Publication type:
- Article
Hypergonadotropic Hypogonadism Due to Transaldolase Deficiency: Two Cases and Literature Review.
- Published in:
- JCEM Case Reports, 2024, v. 2, n. 3, p. 1, doi. 10.1210/jcemcr/luae028
- By:
- Publication type:
- Article
P-51 Association of Bardet-Biedl syndrome with differences of sex development and pituitary hypoplasia.
- Published in:
- JCEM Case Reports, 2024, v. 2, p. 1, doi. 10.1210/jcemcr/luad146.053
- By:
- Publication type:
- Article
Kallmann syndrome and deafness: an uncommon combination: A case report and a literature review.
- Published in:
- 2016
- By:
- Publication type:
- Case Study
Congenital anosmia: a case report.
- Published in:
- Romanian Journal of Rhinology, 2019, v. 9, n. 35, p. 161, doi. 10.2478/rjr-2019-0020
- By:
- Publication type:
- Article
Obstructive Sleep Apnea Syndrome and Age-Related Hypogonadism.
- Published in:
- Neuroscience & Behavioral Physiology, 2019, v. 49, n. 1, p. 64, doi. 10.1007/s11055-018-0693-2
- By:
- Publication type:
- Article
A Rare SPRY4 Gene Mutation Is Associated With Anosmia and Adult-Onset Isolated Hypogonadotropic Hypogonadism.
- Published in:
- Frontiers in Endocrinology, 2019, p. 1, doi. 10.3389/fendo.2019.00781
- By:
- Publication type:
- Article
Animal Models of Diabetes-Related Male Hypogonadism.
- Published in:
- Frontiers in Endocrinology, 2019, p. 1, doi. 10.3389/fendo.2019.00628
- By:
- Publication type:
- Article
Psychological Aspects of Congenital Hypogonadotropic Hypogonadism.
- Published in:
- Frontiers in Endocrinology, 2019, p. 1, doi. 10.3389/fendo.2019.00353
- By:
- Publication type:
- Article
Congenital Hypogonadotrophic Hypogonadism: Minipuberty and the Case for Neonatal Diagnosis.
- Published in:
- Frontiers in Endocrinology, 2019, p. N.PAG, doi. 10.3389/fendo.2019.00097
- By:
- Publication type:
- Article