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PubPharm (83)
1
GNAQ/GNA11 Mosaicism Is Associated with Abnormal Serum Calcium Indices and Microvascular Neurocalcification
enthalten in:
The Journal of investigative dermatology
| 2024
von
Knöpfel, N.
|
Zecchin, D.
|
Richardson, H.
| +24
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2
Burosumab in management of X-linked hypophosphataemia : a retrospective cohort study of growth and serum phosphate levels
enthalten in:
Archives of disease in childhood
| 2023
von
Walker, E.
|
Lindsay, T.
|
Allgrove, J.
| +3
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3
COPB2
haploinsufficiency causes a coatopathy with osteoporosis and developmental delay
enthalten in:
bioRxiv.org
| 2022
von
Marom, R.
|
Burrage, L.
|
Clément, A.
| +50
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4
Non-collagen pathogenic variants resulting in the osteogenesis imperfecta phenotype in children : a single-country observational cohort study
enthalten in:
Archives of disease in childhood
| 2022
von
Thornley, P.
|
Bishop, N.
|
Baker, D.
| +10
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5
COPB2 loss of function causes a coatopathy with osteoporosis and developmental delay
enthalten in:
American journal of human genetics
| 2021
von
Marom, R.
|
Burrage, L.
|
Venditti, R.
| +51
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6
Genetic Analysis of Pediatric Primary Adrenal Insufficiency of Unknown Etiology : 25 Years' Experience in the UK
enthalten in:
Journal of the Endocrine Society
| 2021
von
Buonocore, F.
|
Maharaj, A.
|
Qamar, Y.
| +27
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7
PTH Infusion for Seizures in Autosomal Dominant Hypocalcemia Type 1
enthalten in:
The New England journal of medicine
| 2021
von
Sastre, A.
|
Valentino, K.
|
Hannan, F.
| +11
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8
Endocrine Diseases of Newborn : Epidemiology, Pathogenesis, Therapeutic Options, and Outcome "Current Insights Into Disorders of Calcium and Phosphate in the Newborn"
enthalten in:
Frontiers in pediatrics
| 2021
von
Taylor-Miller, T.
|
Allgrove, J.
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9
Case report : a 10-year-old girl with primary hypoparathyroidism and systemic lupus erythematosus
enthalten in:
Journal of pediatric endocrinology & metabolism : JPEM
| 2020
von
Borysewicz-Sańczyk, H.
|
Sawicka, B.
|
Michalak, J.
| +8
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10
Case report: a 10-year-old girl with primary hypoparathyroidism and systemic lupus erythematosus
enthalten in:
The journal of pediatric endocrinology and metabolism
| 2020
von
Borysewicz-Sańczyk, H.
|
Sawicka, B.
|
Michalak, J.
| +8
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Pediatric diabetes
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The journal of pediatric endocrinology and meta...
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Diabetologia
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Thema
39
Journal Article
14
Research Support, Non-U.S. Gov't
11
Review
10
Calcium
10
SY7Q814VUP
9
Case Reports
7
1406-16-2
7
Vitamin D
6
Evaluation Study
5
Parathyroid Hormone
5
Type 1 diabetes
4
Clinical outcomes
4
Continuous subcutaneous insulin infusion
4
DPV
4
Insulin pumps
4
National Paediatric Diabetes Audit
4
T1D Exchange clinic registry
4
Treatment modalities
4
genetics
3
22q11 deletion syndrome
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Erscheinungszeitraum
79
2000-
3
1900-1999
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