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1.
Safe and effective use of a hybrid closed-loop system from diagnosis in children under 18 months with type 1 diabetes.
Pediatr Diabetes
; 23(1): 90-97, 2022 02.
Article
in English
| MEDLINE | ID: mdl-34820972
2.
Absence of the ER Cation Channel TMEM38B/TRIC-B Disrupts Intracellular Calcium Homeostasis and Dysregulates Collagen Synthesis in Recessive Osteogenesis Imperfecta.
PLoS Genet
; 12(7): e1006156, 2016 07.
Article
in English
| MEDLINE | ID: mdl-27441836
3.
Karyotype - Phenotype Associations in Patients with Turner Syndrome.
Pediatr Endocrinol Rev
; 16(4): 431-440, 2019 Apr.
Article
in English
| MEDLINE | ID: mdl-31245938
4.
Phenotypic variability in patients with osteogenesis imperfecta caused by BMP1 mutations.
Am J Med Genet A
; 170(12): 3150-3156, 2016 12.
Article
in English
| MEDLINE | ID: mdl-27576954
5.
ARNT2 mutation causes hypopituitarism, post-natal microcephaly, visual and renal anomalies.
Brain
; 136(Pt 10): 3096-105, 2013 Oct.
Article
in English
| MEDLINE | ID: mdl-24022475
6.
Effect of growth hormone deficiency on brain structure, motor function and cognition.
Brain
; 135(Pt 1): 216-27, 2012 Jan.
Article
in English
| MEDLINE | ID: mdl-22120144
7.
Quality of Life in Men With Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency.
Front Endocrinol (Lausanne)
; 12: 626646, 2021.
Article
in English
| MEDLINE | ID: mdl-33815285
8.
Keeping the pressure on mineralocorticoid replacement in congenital adrenal hyperplasia.
Clin Endocrinol (Oxf)
; 82(4): 478-80, 2015 Apr.
Article
in English
| MEDLINE | ID: mdl-25510524
9.
How close is the dose? Manipulation of 10â¯mg hydrocortisone tablets to provide appropriate doses to children.
Int J Pharm
; 545(1-2): 57-63, 2018 Jul 10.
Article
in English
| MEDLINE | ID: mdl-29705101
10.
Quantitative Brain MRI in Congenital Adrenal Hyperplasia: In Vivo Assessment of the Cognitive and Structural Impact of Steroid Hormones.
J Clin Endocrinol Metab
; 103(4): 1330-1341, 2018 04 01.
Article
in English
| MEDLINE | ID: mdl-29165577
11.
Cardiovascular health, growth and gonadal function in children and adolescents with congenital adrenal hyperplasia.
Arch Dis Child
; 102(6): 578-584, 2017 06.
Article
in English
| MEDLINE | ID: mdl-27974295
12.
Phenotypic Spectrum in Osteogenesis Imperfecta Due to Mutations in TMEM38B: Unraveling a Complex Cellular Defect.
J Clin Endocrinol Metab
; 102(6): 2019-2028, 2017 06 01.
Article
in English
| MEDLINE | ID: mdl-28323974
13.
Current and novel approaches to children and young people with congenital adrenal hyperplasia and adrenal insufficiency.
Best Pract Res Clin Endocrinol Metab
; 29(3): 449-68, 2015 Jun.
Article
in English
| MEDLINE | ID: mdl-26051302
14.
Reduced ventral cingulum integrity and increased behavioral problems in children with isolated optic nerve hypoplasia and mild to moderate or no visual impairment.
PLoS One
; 8(3): e59048, 2013.
Article
in English
| MEDLINE | ID: mdl-23554967
15.
Septo-optic dysplasia.
Eur J Hum Genet
; 18(4): 393-7, 2010 Apr.
Article
in English
| MEDLINE | ID: mdl-19623216
16.
Repetitive stimulation of the pituitary with growth-hormone-releasing hormone alters the proportion of 22 and 20 kilodalton human-growth hormone released.
Int J Pediatr Endocrinol
; 2010: 781317, 2010.
Article
in English
| MEDLINE | ID: mdl-20628515
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