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Late-onset adrenal hypoplasia congenita caused by a novel mutation of the DAX-1 gene.
- Published in:
- 2009
- By:
- Publication type:
- journal article
Possibility of Using Astaxanthin-Rich Dried Cell Powder from Paracoccus carotinifaciens to Improve Egg Yolk Pigmentation of Laying Hens.
- Published in:
- Symmetry (20738994), 2020, v. 12, n. 6, p. 923, doi. 10.3390/sym12060923
- By:
- Publication type:
- Article
Alström Syndrome: A Review Focusing on Its Diverse Clinical Manifestations and Their Etiology as a Ciliopathy.
- Published in:
- Yonago Acta Medica, 2024, v. 67, n. 2, p. 93, doi. 10.33160/yam.2024.05.010
- By:
- Publication type:
- Article
Cord Blood from SGA Preterm Infants Exhibits Increased GLUT4 mRNA Expression.
- Published in:
- Yonago Acta Medica, 2021, v. 64, n. 1, p. 57, doi. 10.33160/yam.2021.02.009
- By:
- Publication type:
- Article
Recurrent Erythema Nodosum in a Child with a SHOC2 Gene Mutation.
- Published in:
- Yonago Acta Medica, 2019, v. 62, n. 1, p. 159, doi. 10.33160/yam.2019.03.022
- By:
- Publication type:
- Article
Variation analysis of β<sub>3</sub>-adrenergic receptor and melanocortin-4 receptor genes in childhood obesity.
- Published in:
- Pediatrics International, 2007, v. 49, n. 2, p. 133, doi. 10.1111/j.1442-200X.2007.02334.x
- By:
- Publication type:
- Article
Pericentric inversion inv(2) (p11.2q21) associated with Treacher Collins-Franceschetti syndrome.
- Published in:
- 2002
- By:
- Publication type:
- Case Study
Supercritical CO<sub>2</sub> Extraction of Carotenoids (Astaxanthin, Adonirubin, and Adonixanthin) from Paracoccus carotinifaciens: Improved Z‐Isomer Ratio and Recovery of Carotenoids via High‐Temperature Extraction.
- Published in:
- European Journal of Lipid Science & Technology, 2022, v. 124, n. 7, p. 1, doi. 10.1002/ejlt.202200021
- By:
- Publication type:
- Article
Thermal‐ and Photo‐Induced Isomerization of All‐E‐ and Z‐Isomer‐Rich Xanthophylls: Astaxanthin and Its Structurally‐Related Xanthophylls, Adonirubin, and Adonixanthin.
- Published in:
- European Journal of Lipid Science & Technology, 2020, v. 122, n. 5, p. 1, doi. 10.1002/ejlt.201900462
- By:
- Publication type:
- Article
Growth Hormone Protects Against Ovariectomy-Induced Bone Loss in States of Low Circulating Insulin-like Growth Factor (IGF-1).
- Published in:
- Journal of Bone & Mineral Research, 2010, v. 25, n. 2, p. 235, doi. 10.1359/jbmr.090723
- By:
- Publication type:
- Article
Serum IGF-1 Determines Skeletal Strength by Regulating Subperiosteal Expansion and Trait Interactions.
- Published in:
- Journal of Bone & Mineral Research, 2009, v. 24, n. 8, p. 1481, doi. 10.1359/JBMR.090226
- By:
- Publication type:
- Article
Supramolecular Formation of Li<sup>+</sup>@PCBM Fullerene with Sulfonated Porphyrins and Long-Lived Charge Separation.
- Published in:
- ChemPhysChem, 2014, v. 15, n. 17, p. 3782, doi. 10.1002/cphc.201402512
- By:
- Publication type:
- Article
Mutation at Cleavage Site of Insulin-Like Growth Factor Receptor in a Short-Stature Child Born with Intrauterine Growth Retardation.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2005, v. 90, n. 8, p. 4679, doi. 10.1210/jc.2004-1947
- By:
- Publication type:
- Article
Energy-preserving effects of IGF-1 antagonize starvation-induced cardiac autophagy.
- Published in:
- Cardiovascular Research, 2012, v. 93, n. 2, p. 320, doi. 10.1093/cvr/cvr321
- By:
- Publication type:
- Article
Natural histories of patients with Wolf‐Hirschhorn syndrome derived from variable chromosomal abnormalities.
- Published in:
- Congenital Anomalies, 2019, v. 59, n. 5, p. 169, doi. 10.1111/cga.12318
- By:
- Publication type:
- Article
Serum complexes of insulin-like growth factor-1 modulate skeletal Integrity and carbohydrate metabolism.
- Published in:
- FASEB Journal, 2009, v. 23, n. 3, p. 709, doi. 10.1096/fj.08-118976
- By:
- Publication type:
- Article
Astaxanthin Z-isomer-rich diets enhance egg yolk pigmentation in laying hens compared to that in all-E-isomer-rich diets.
- Published in:
- Animal Science Journal, 2021, v. 92, n. 1, p. 1, doi. 10.1111/asj.13512
- By:
- Publication type:
- Article
Effects of astaxanthin‐rich dried cell powder from Paracoccus carotinifaciens on carotenoid composition and lipid peroxidation in skeletal muscle of broiler chickens under thermo‐neutral or realistic high temperature conditions.
- Published in:
- Animal Science Journal, 2019, v. 90, n. 2, p. 229, doi. 10.1111/asj.13141
- By:
- Publication type:
- Article
The case of a patient with MIRAGE syndrome with familial dysautonomia-like symptoms.
- Published in:
- Human Genome Variation, 2021, v. 8, n. 1, p. 1, doi. 10.1038/s41439-021-00158-6
- By:
- Publication type:
- Article
Modulation of Energy Conversion Processes in Carbonaceous Molecular Bearings.
- Published in:
- Chemistry - An Asian Journal, 2015, v. 10, n. 11, p. 2404, doi. 10.1002/asia.201500673
- By:
- Publication type:
- Article
Efficient Charge Separation in Li<sup>+</sup>@C<sub>60</sub> Supramolecular Complexes with Electron Donors.
- Published in:
- Chemistry - An Asian Journal, 2015, v. 10, n. 1, p. 44, doi. 10.1002/asia.201403075
- By:
- Publication type:
- Article
Structures of Yellow Xanthophylls and Metabolism of Astaxanthin in the Prawn Penaeus japonicus.
- Published in:
- Journal of Oleo Science, 2018, v. 67, n. 11, p. 1425, doi. 10.5650/jos.ess18103
- By:
- Publication type:
- Article
Clinical characteristics of and growth hormone treatment effects on short stature with type 1 insulin-like growth factor receptor (IGF1R) gene alteration.
- Published in:
- Endocrine Journal, 2024, v. 71, n. 7, p. 687, doi. 10.1507/endocrj.EJ23-0680
- By:
- Publication type:
- Article
A novel frameshift mutation in NR3C2 leads to decreased expression of mineralocorticoid receptor: a family with renal pseudohypoaldosteronism type 1.
- Published in:
- Endocrine Journal, 2017, v. 64, n. 1, p. 83, doi. 10.1507/endocrj.ej16-0280
- By:
- Publication type:
- Article
A rare CYP 21 mutation (p.E431K) induced deactivation of CYP 21A2 and resulted in congenital adrenal hyperplasia.
- Published in:
- Endocrine Journal, 2015, v. 62, n. 1, p. 101, doi. 10.1507/endocrj.ej14-0437
- By:
- Publication type:
- Article
Leprechaunism (Donohue syndrome): A case bearing novel compound heterozygous mutations in the insulin receptor gene.
- Published in:
- Endocrine Journal, 2013, v. 60, n. 1, p. 107, doi. 10.1507/endocrj.ej12-0289
- By:
- Publication type:
- Article
Familial short stature with IGF-I receptor gene anomaly.
- Published in:
- Endocrine Journal, 2012, v. 59, n. 3, p. 179, doi. 10.1507/endocrj.ej11-0258
- By:
- Publication type:
- Article
IGF2 Mutations.
- Published in:
- 2019
- By:
- Publication type:
- journal article
Various phenotypes of short stature with heterozygous IGF-1 receptor (IGF1R) mutations.
- Published in:
- Clinical Pediatric Endocrinology, 2022, v. 31, n. 2, p. 59, doi. 10.1297/cpe.2021-0064
- By:
- Publication type:
- Article
MELAS-Derived Neurons Functionally Improve by Mitochondrial Transfer from Highly Purified Mesenchymal Stem Cells (REC).
- Published in:
- International Journal of Molecular Sciences, 2023, v. 24, n. 24, p. 17186, doi. 10.3390/ijms242417186
- By:
- Publication type:
- Article
Extracellular Vesicles and Cx43-Gap Junction Channels Are the Main Routes for Mitochondrial Transfer from Ultra-Purified Mesenchymal Stem Cells, RECs.
- Published in:
- International Journal of Molecular Sciences, 2023, v. 24, n. 12, p. 10294, doi. 10.3390/ijms241210294
- By:
- Publication type:
- Article
Robust Inclusion Complexes of Crown Ether Fused Tetrathiafulvalenes with Li<sup>+</sup>@C<sub>60</sub> to Afford Efficient Photodriven Charge Separation.
- Published in:
- Chemistry - A European Journal, 2014, v. 20, n. 43, p. 13976, doi. 10.1002/chem.201402449
- By:
- Publication type:
- Article
Heterozygous nonsense mutations near the C-terminal region of IGF1R in two patients with small-for-gestational-age-related short stature.
- Published in:
- Clinical Endocrinology, 2015, v. 83, n. 6, p. 834, doi. 10.1111/cen.12791
- By:
- Publication type:
- Article
Familial short stature is associated with a novel dominant-negative heterozygous insulin-like growth factor 1 receptor ( IGF1 R) mutation.
- Published in:
- Clinical Endocrinology, 2014, v. 81, n. 2, p. 312, doi. 10.1111/cen.12317
- By:
- Publication type:
- Article
Novel missense mutation in the IGF- I receptor L2 domain results in intrauterine and postnatal growth retardation.
- Published in:
- Clinical Endocrinology, 2012, v. 77, n. 2, p. 246, doi. 10.1111/j.1365-2265.2012.04357.x
- By:
- Publication type:
- Article
Highly-purified rapidly expanding clones, RECs, are superior for functional-mitochondrial transfer.
- Published in:
- Stem Cell Research & Therapy, 2023, v. 14, n. 1, p. 1, doi. 10.1186/s13287-023-03274-y
- By:
- Publication type:
- Article
Genotype-Structure-Phenotype Correlations of Disease-Associated IGF1R Variants and Similarities to Those of INSR Variants.
- Published in:
- 2021
- By:
- Publication type:
- journal article