RET Mutation Spectrum in Turkish Cases with Medullary Thyroid Carcinoma: Definition of a Novel K710R Mutation.
- Published in:
- 2015
- By:
- Publication type:
- Abstract
Works matching IS 13085727 AND DT 2015 AND VI 7
Results: 277
1
2
Genetic Analysis of Lipodystrophies and Novel Mutations.
- Published in:
- 2015
- By:
- Publication type:
- Abstract
3
Four Cases of SCD (Jarcho-Levin Syndrome) Presenting with Short Stature.
- Published in:
- 2015
- By:
- Publication type:
- Abstract
4
Genetic Diagnosis Using Whole Exome Analysis in Two Cases with Malignant Osteopetrosis of Infancy.
- Published in:
- 2015
- By:
- Publication type:
- Letter to the Editor
5
Hyperthyroidism After Allogeneic Hematopoietic Stem Cell Transplantation: A Report of Four Cases.
- Published in:
- Journal of Clinical Research in Pediatric Endocrinology, 2015, v. 7, n. 4, p. 349, doi. 10.4274/jcrpe.2295
- By:
- Publication type:
- Article
6
Letter to the Editor regarding "Testotoxicosis: Report of Two Cases, One with a Novel Mutation in Luteinizing Hormone/Choriogonadotropin Receptor Gene".
- Published in:
- 2015
- By:
- Publication type:
- Letter to the Editor
7
A Novel De Novo GATA Binding Protein 3 Mutation in a Turkish Boy with Hypoparathyroidism, Deafness, and Renal Dysplasia Syndrome.
- Published in:
- Journal of Clinical Research in Pediatric Endocrinology, 2015, v. 7, n. 4, p. 344, doi. 10.4274/jcrpe.2249
- By:
- Publication type:
- Article
8
Inflammatory Myofibroblastic Tumor Presenting with Diabetes Insipidus in an Eight-Year-Old Boy: A Case Report.
- Published in:
- Journal of Clinical Research in Pediatric Endocrinology, 2015, v. 7, n. 4, p. 340, doi. 10.4274/jcrpe.1961
- By:
- Publication type:
- Article
9
A Case with Infantile-Onset Pancytopenia and Hyperglycemia Associated with SLC19A2 Mutation.
- Published in:
- 2015
- By:
- Publication type:
- Abstract
10
Gonadoblastoma with Dysgerminoma in a Phenotypically Turner-Like Girl with 45,X/46,XY Karyotype.
- Published in:
- Journal of Clinical Research in Pediatric Endocrinology, 2015, v. 7, n. 4, p. 336, doi. 10.4274/jcrpe.2022
- By:
- Publication type:
- Article
11
An Unusual Presentation of Parathyroid Adenoma in an Adolescent: Calcific Achilles Tendinitis.
- Published in:
- Journal of Clinical Research in Pediatric Endocrinology, 2015, v. 7, n. 4, p. 333, doi. 10.4274/jcrpe.2193
- By:
- Publication type:
- Article
12
High-Dose Hook Effect in 17-Hydroxyprogesterone Assay in a Patient with 21-Hydroxylase Deficiency.
- Published in:
- Journal of Clinical Research in Pediatric Endocrinology, 2015, v. 7, n. 4, p. 329, doi. 10.4274/jcrpe.2180
- By:
- Publication type:
- Article
13
A Homozygous Nonsense Thyroid Peroxidase Mutation (R540X) Consistently Causes Congenital Hypothyroidism in Two Siblings Born to a Consanguineous Family.
- Published in:
- Journal of Clinical Research in Pediatric Endocrinology, 2015, v. 7, n. 4, p. 323, doi. 10.4274/jcrpe.1920
- By:
- Publication type:
- Article
14
Educational Needs of Adolescents Regarding Normal Puberty and Menstrual Patterns.
- Published in:
- Journal of Clinical Research in Pediatric Endocrinology, 2015, v. 7, n. 4, p. 312, doi. 10.4274/jcrpe.2144
- By:
- Publication type:
- Article
15
Cardiac Function in Newborns with Congenital Hypothyroidism: Association with Thyroid-Stimulating Hormone Levels.
- Published in:
- Journal of Clinical Research in Pediatric Endocrinology, 2015, v. 7, n. 4, p. 307, doi. 10.4274/jcrpe.1969
- By:
- Publication type:
- Article
16
The Effect of Recombinant Growth Hormone Treatment in Children with Idiopathic Short Stature and Low Insulin-Like Growth Factor-1 Levels.
- Published in:
- Journal of Clinical Research in Pediatric Endocrinology, 2015, v. 7, n. 4, p. 301, doi. 10.4274/jcrpe.2111
- By:
- Publication type:
- Article
17
Factors Influencing Serum Vitamin D Concentration in Turkish Children Residing in İzmir: A Single-Center Experience.
- Published in:
- Journal of Clinical Research in Pediatric Endocrinology, 2015, v. 7, n. 4, p. 294, doi. 10.4274/jcrpe.1938
- By:
- Publication type:
- Article
18
Reference Values for Weight, Height, Head Circumference, and Body Mass Index in Turkish Children.
- Published in:
- Journal of Clinical Research in Pediatric Endocrinology, 2015, v. 7, n. 4, p. 280, doi. 10.4274/jcrpe.2183
- By:
- Publication type:
- Article
19
Neutrophil Gelatinase-Associated Lipocalin as an Early Sign of Diabetic Kidney Injury in Children.
- Published in:
- Journal of Clinical Research in Pediatric Endocrinology, 2015, v. 7, n. 4, p. 274, doi. 10.4274/jcrpe.2002
- By:
- Publication type:
- Article
20
Low-Grade Inflammation and Increased Arterial Stiffness in Chinese Youth and Adolescents with Newly-Diagnosed Type 2 Diabetes Mellitus.
- Published in:
- Journal of Clinical Research in Pediatric Endocrinology, 2015, v. 7, n. 4, p. 268, doi. 10.4274/jcrpe.2187
- By:
- Publication type:
- Article
21
Diagnostic Work-up and Follow-up in Children with Tall Stature: A Simplified Algorithm for Clinical Practice.
- Published in:
- Journal of Clinical Research in Pediatric Endocrinology, 2015, v. 7, n. 4, p. 260, doi. 10.4274/jcrpe.2220
- By:
- Publication type:
- Article
22
Endocrinologic Consequences of Pediatric Posterior Fossa Tumours.
- Published in:
- Journal of Clinical Research in Pediatric Endocrinology, 2015, v. 7, n. 4, p. 253, doi. 10.4274/jcrpe.2135
- By:
- Publication type:
- Article
23
EDITORIAL.
- Published in:
- 2015
- By:
- Publication type:
- Proceeding
24
Familial Partial Lipodystrophy Linked to a Novel Peroxisome Proliferator-Activated Receptor -γ (PPARG) Mutation, H449L.
- Published in:
- 2015
- By:
- Publication type:
- Abstract
25
A Family with Multiple Endocrine Neoplasia Type 2A: Importance of Early Prophylactic Thyroidectomy.
- Published in:
- 2015
- By:
- Publication type:
- Abstract
26
Genotype-Phenotype Correlation and Follow-Up Features in Cases with Congenital Hyperinsulinism (CHI).
- Published in:
- 2015
- By:
- Publication type:
- Abstract
27
Chromosomal Abnormalities in 344 Patients who Were Referred to Cytogenetics Laboratory with Pre-Diagnosis of Short Stature, Turner Syndrome and Sex Developmental Disorders.
- Published in:
- 2015
- By:
- Publication type:
- Abstract
28
Genotype-Phenotype Correlation of Congenital Adrenal Hyperplasia Cases Having Complex (Multiple) Mutation Detected in CYP21A2 Gene.
- Published in:
- 2015
- By:
- Publication type:
- Abstract
29
A Preliminary Study of the Possible Role of Cannabinoid Receptor-1 (CNR1) Gene Polymorphisms in the Development of Morbid Obesity in Obese Children.
- Published in:
- 2015
- By:
- Publication type:
- Abstract
30
Growth Hormone Treatment in an Adolescent with Pycnodysostosis.
- Published in:
- 2015
- By:
- Publication type:
- Abstract
31
Successful Transfer from Insulin to Oral Sulphonylurea in an Infant and His Mother with Monogenic Diabetes Due to a Heterozygous Missense Mutation in the ABCC8 Gene.
- Published in:
- 2015
- By:
- Publication type:
- Abstract
32
Efficacy and Safety of Sirolimus (mTOR Inhibitor) in Two Patients with Diazoxide-Unresponsive Hyperinsulinemic Hypoglycemia.
- Published in:
- 2015
- By:
- Publication type:
- Abstract
33
Different Genotypes in Prader-Willi Syndrome.
- Published in:
- 2015
- By:
- Publication type:
- Abstract
34
Severe Congenital Insulin Resistance Syndrome Due to a Compound Heterozygous c.836G>A & c.1268+2T>A Mutation in Insulin Receptor (INSR) Gene.
- Published in:
- 2015
- By:
- Publication type:
- Abstract
35
Complete Androgen Insensitivity Syndrome; the Importance of Family Screening.
- Published in:
- 2015
- By:
- Publication type:
- Abstract
36
Wolcott-Rallison Syndrome.
- Published in:
- 2015
- By:
- Publication type:
- Abstract
37
Crouzon Syndrome with Hypoplasia of Corpus Callosum and Inferior Vermis.
- Published in:
- 2015
- By:
- Publication type:
- Abstract
38
Coexistence of Kabuki Syndrome and Autoimmune Thyroiditis.
- Published in:
- 2015
- By:
- Publication type:
- Abstract
39
Osteogenesis Imperfecta Presenting with Fractures in Pregnancy or Lactation Period: Report of Three Cases.
- Published in:
- 2015
- By:
- Publication type:
- Abstract
40
Phenotype-Genotype Correlations in Bardet-Biedl Syndrome Patients with Molecular Analysis.
- Published in:
- 2015
- By:
- Publication type:
- Abstract
41
Multiple Pituitary Hormone Deficiency Associated with Pituitary Hyperplasia: A Case Report.
- Published in:
- 2015
- By:
- Publication type:
- Abstract
42
Seven Cases of Williams-Beuren Syndrome: Endocrine Evaluation and Long-Term Follow-Up.
- Published in:
- 2015
- By:
- Publication type:
- Abstract
43
A Case of Achondrogenesis Type 2/Hypochondrogenesis Due to a De Novo Mutation in the COL2A1 Gene.
- Published in:
- 2015
- By:
- Publication type:
- Abstract
44
An Infantile Hypophosphatasia Patient with a Homozygous Mutation in the ALPS Gene.
- Published in:
- 2015
- By:
- Publication type:
- Abstract
45
A Case of Type 1 Diabetes Mellitus with Klinefelter's Syndrome.
- Published in:
- 2015
- By:
- Publication type:
- Abstract
46
A Rare Genetic Disorder: Partial Trisomy on Chromosome 21.
- Published in:
- 2015
- By:
- Publication type:
- Abstract
47
A Case of Mosaic 45,X/46,XY Infertile Man with an AZF Deletion.
- Published in:
- 2015
- By:
- Publication type:
- Abstract
48
Genetic Analysis in Our Cases with Thyroid Dysgenesis.
- Published in:
- 2015
- By:
- Publication type:
- Abstract
49
Genetic Diagnosis Using Whole Exome Analysis in Two Cases with Malignant Infantile Osteopetrosis.
- Published in:
- 2015
- By:
- Publication type:
- Abstract
50
Tamoxifen Treatment for Pubertal Gynecomastia in a Patient with Partial Androgen Insensitivity Syndrome.
- Published in:
- 2015
- By:
- Publication type:
- Abstract