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KLB, encoding β-Klotho, is mutated in patients with congenital hypogonadotropic hypogonadism.
- Published in:
- EMBO Molecular Medicine, 2017, v. 9, n. 10, p. 1379, doi. 10.15252/emmm.201607376
- By:
- Publication type:
- Article
Response to Letter to the Editor From Arroyo et al: “Timing of Puberty, Pubertal Growth, and Adult Height in Short Children Born Small for Gestational Age Treated With Growth Hormone”.
- Published in:
- 2023
- By:
- Publication type:
- Letter to the Editor
Timing of Puberty, Pubertal Growth, and Adult Height in Short Children Born Small for Gestational Age Treated With Growth Hormone.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2022, v. 107, n. 8, p. 2286, doi. 10.1210/clinem/dgac282
- By:
- Publication type:
- Article
Increases in Bioactive IGF do not Parallel Increases in Total IGF-I During Growth Hormone Treatment of Children Born SGA.
- Published in:
- 2019
- By:
- Publication type:
- journal article
Mutations within Sox2/SOX2 are associated with abnormalities in the hypothalamo-pituitary-gonadal axis in mice and humans.
- Published in:
- 2006
- By:
- Publication type:
- journal article
Steroid Sulfatase Deficiency and Androgen Activation Before and After Puberty.
- Published in:
- 2016
- By:
- Publication type:
- journal article
Adiposity in Children Born Small for Gestational Age Is Associated With β-Cell Function, Genetic Variants for Insulin Resistance, and Response to Growth Hormone Treatment.
- Published in:
- 2016
- By:
- Publication type:
- journal article
Genetic markers of insulin sensitivity and insulin secretion are associated with spontaneous postnatal growth and response to growth hormone treatment in short SGA children: the North European SGA Study (NESGAS).
- Published in:
- 2015
- By:
- Publication type:
- journal article
The Incidence and Outcomes for Children with Cleft Palate and/or Lip and CHARGE Syndrome.
- Published in:
- Cleft Palate Craniofacial Journal, 2024, v. 61, n. 4, p. 620, doi. 10.1177/10556656221134558
- By:
- Publication type:
- Article
Growth hormone: licensing and prescription in children.
- Published in:
- Prescriber, 2008, v. 19, n. 5, p. 17, doi. 10.1002/psb.202
- By:
- Publication type:
- Article
Functional consequences of seven novel mutations in the CYP11B1 gene: four mutations associated with nonclassic and three mutations causing classic 11{beta}-hydroxylase deficiency.
- Published in:
- 2010
- By:
- Publication type:
- journal article
Reductions in Basal Metabolic Rate and Physical Activity Contribute to Hypothalamic Obesity.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2008, v. 93, n. 7, p. 2588, doi. 10.1210/jc.2007-2672
- By:
- Publication type:
- Article
The Neuroradiology of Kallmann's Syndrome: A Genotypic and Phenotypic Analysis.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 1996, v. 81, n. 8, p. 3010
- By:
- Publication type:
- Article
Identification of olfactory dysfunction in carriers of X-linked Kallmann's syndrome.
- Published in:
- Clinical Endocrinology, 1995, v. 42, n. 5, p. 558, doi. 10.1111/j.1365-2265.1995.tb02678.x
- By:
- Publication type:
- Article
Understanding precocious puberty in girls.
- Published in:
- Obstetrician & Gynaecologist, 2012, v. 14, n. 2, p. 121, doi. 10.1111/j.1744-4667.2012.00094.x
- By:
- Publication type:
- Article
Clinical characteristics and management of cranial diabetes insipidus in infants.
- Published in:
- Journal of Pediatric Endocrinology & Metabolism, 2013, v. 26, n. 11/12, p. 1041, doi. 10.1515/jpem-2013-0026
- By:
- Publication type:
- Article
TSHR is the main causative locus in autosomal recessively inherited thyroid dysgenesis.
- Published in:
- Journal of Pediatric Endocrinology & Metabolism, 2012, v. 25, n. 5/6, p. 419, doi. 10.1515/jpem-2012-0053
- By:
- Publication type:
- Article
Pilot study: Sensory integration processing disorders in children with optic nerve hypoplasia spectrum.
- Published in:
- British Journal of Visual Impairment, 2018, v. 36, n. 1, p. 5, doi. 10.1177/0264619617730859
- By:
- Publication type:
- Article
Clinical characteristics and treatment requirements of children with autosomal recessive pseudohypoaldosteronism.
- Published in:
- European Journal of Endocrinology, 2021, v. 184, n. 5, p. K15, doi. 10.1530/EJE-20-0152
- By:
- Publication type:
- Article
Causes, patterns and severity of androgen excess in 487 consecutively recruited pre- and post-pubertal children.
- Published in:
- European Journal of Endocrinology, 2019, v. 180, n. 3, p. 213, doi. 10.1530/EJE-18-0854
- By:
- Publication type:
- Article
A randomised controlled trial evaluating IGF1 titration in contrast to current GH dosing strategies in children born small for gestational age: the North European Small-for-Gestational-Age Study.
- Published in:
- European Journal of Endocrinology, 2014, v. 171, n. 4, p. 509, doi. 10.1530/EJE-14-0419
- By:
- Publication type:
- Article
An Open-Label Acceptability Study of Norditropin SimpleXx - A New Liquid Growth Hormone Formulation.
- Published in:
- Journal of Pediatric Endocrinology & Metabolism, 2001, v. 14, n. 6, p. 735, doi. 10.1515/jpem.2001.14.6.735
- By:
- Publication type:
- Article
Developing chief investigators within the NHS: the West Midlands clinical trials scholars programme.
- Published in:
- Clinical Medicine, 2022, v. 22, n. 2, p. 149, doi. 10.7861/clinmed.2021-0606
- By:
- Publication type:
- Article
Development of an assessment tool for screening children for glucose intolerance by oral glucose tolerance test.
- Published in:
- 2004
- By:
- Publication type:
- Letter
Can Treatment Adherence Be Improved by Using Rubin's Four Tendencies Framework to Understand a Patient's Response to Expectations?
- Published in:
- Biomedicine Hub, 2017, v. 2, p. 239, doi. 10.1159/000484261
- By:
- Publication type:
- Article
Links Between Granuloma Annulare, Necrobiosis Lipoidica Diabeticorum and Childhood Diabetes: A Matter of Time?
- Published in:
- Pediatric Dermatology, 2010, v. 27, n. 2, p. 178, doi. 10.1111/j.1525-1470.2010.01099.x
- By:
- Publication type:
- Article
The UPTAKE study: implications for the future of COVID-19 vaccination trial recruitment in UK and beyond.
- Published in:
- 2021
- By:
- Publication type:
- journal article
Recommendations of patients and families of girls with 46XX congenital adrenal hyperplasia in the United Kingdom regarding the timing of surgery.
- Published in:
- 2021
- By:
- Publication type:
- journal article
Nucleic Acid Blotting: The Basics (Book).
- Published in:
- 1996
- By:
- Publication type:
- Book Review
Recombinant Human Growth Hormone Therapy in Children with Chromosome 15q26 Deletion.
- Published in:
- Hormone Research in Paediatrics, 2015, v. 83, n. 6, p. 424, doi. 10.1159/000380949
- By:
- Publication type:
- Article
Baseline IGF-I Levels Determine Insulin Secretion and Insulin Sensitivity during the First Year on Growth Hormone Therapy in Children Born Small for Gestational Age. Results from a North European Multicentre Study (NESGAS).
- Published in:
- Hormone Research in Paediatrics, 2013, v. 80, n. 1, p. 38, doi. 10.1159/000353438
- By:
- Publication type:
- Article
National Audit of Patient Choice in Pediatric GH Therapy.
- Published in:
- Hormone Research in Paediatrics, 2011, v. 75, n. 2, p. 101, doi. 10.1159/000318784
- By:
- Publication type:
- Article
Phenotypic characteristics and variability in CHARGE syndrome: a PRISMA compliant systematic review and meta-analysis.
- Published in:
- Journal of Neurodevelopmental Disorders, 2022, v. 14, n. 1, p. 1, doi. 10.1186/s11689-022-09459-5
- By:
- Publication type:
- Article
Will 2011 be the year of mobile malware?
- Published in:
- ComputerWorld Hong Kong, 2011, v. 28, n. 1, p. 30
- By:
- Publication type:
- Article
Tests show consumer antivirus programs falling behind.
- Published in:
- ComputerWorld Hong Kong, 2010, v. 27, n. 9, p. 46
- By:
- Publication type:
- Article
Survey shows Web app security spending up despite economy.
- Published in:
- ComputerWorld Hong Kong, 2009, v. 26, n. 4, p. 30
- By:
- Publication type:
- Article
Analyst: Money will fuel mobile spying programs.
- Published in:
- ComputerWorld Hong Kong, 2008, v. 25, n. 6, p. 19
- By:
- Publication type:
- Article
Key pointers to diagnosis and treatment.
- Published in:
- Veterinary Record: Journal of the British Veterinary Association, 2017, v. 180, n. 14, p. 360, doi. 10.1136/vr.j1689
- By:
- Publication type:
- Article
Acute fatty liver disease after suprasellar tumor resection.
- Published in:
- 2004
- By:
- Publication type:
- journal article
Differences in metabolic effects of twice daily versus multiple daily insulin injections in children with type 1 diabetes.
- Published in:
- 2011
- By:
- Publication type:
- Journal Article
Impact of disordered puberty on bone density in β-thalassaemia major.
- Published in:
- British Journal of Haematology, 2003, v. 120, n. 2, p. 353, doi. 10.1046/j.1365-2141.2003.04066.x
- By:
- Publication type:
- Article
An association of craniopharyngioma in Turner syndrome.
- Published in:
- Pediatric Blood & Cancer, 2013, v. 60, n. 6, p. E7, doi. 10.1002/pbc.24411
- By:
- Publication type:
- Article
Chlamydomonas fla mutants reveal a link between deflagellation and intraflagellar transport.
- Published in:
- BMC Cell Biology, 2003, v. 4, p. 1
- By:
- Publication type:
- Article
Thyroxine: Cause and cure for headache.
- Published in:
- 2006
- By:
- Publication type:
- Letter
Novel mutations of the growth hormone 1 (GH1) gene disclosed by modulation of the clinical selection criteria for individuals with short stature (Communicated by Mark H. Paalman).
- Published in:
- Human Mutation, 2003, v. 21, n. 4, p. 424, doi. 10.1002/humu.10168
- By:
- Publication type:
- Article
Novel mutations of the growth hormone 1 (GH1) gene disclosed by modulation of the clinical selection criteria for individuals with short statureCommunicated by Mark H. Paalman.
- Published in:
- Human Mutation, 2003, v. 21, n. 4, p. 424, doi. 10.1002/humu.10168
- By:
- Publication type:
- Article
WFS1/wolframin mutations, Wolfram syndrome, and associated diseases.
- Published in:
- Human Mutation, 2001, v. 17, n. 5, p. 357, doi. 10.1002/humu.1110
- By:
- Publication type:
- Article
The relationship between bone mass and body composition in children with hypothalamic and simple obesity.
- Published in:
- Clinical Endocrinology, 2014, v. 80, n. 1, p. 85, doi. 10.1111/cen.12263
- By:
- Publication type:
- Article
Phenotypic variability in 17β-hydroxysteroid dehydrogenase-3 deficiency and diagnostic pitfalls.
- Published in:
- Clinical Endocrinology, 2007, v. 67, n. 1, p. 20, doi. 10.1111/j.1365-2265.2007.02829.x
- By:
- Publication type:
- Article
Specialist services and transitional care in paediatric endocrinology in the UK and Ireland.
- Published in:
- Clinical Endocrinology, 2006, v. 65, n. 1, p. 59, doi. 10.1111/j.1365-2265.2006.02546.x
- By:
- Publication type:
- Article