Found: 51
Select item for more details and to access through your institution.
Evaluation of clinical findings and neurofibromatosis type 1 bright objects on brain magnetic resonance images of 60 Turkish patients with NF1 gene variants.
- Published in:
- Neurological Sciences, 2021, v. 42, n. 5, p. 2045, doi. 10.1007/s10072-020-04988-0
- By:
- Publication type:
- Article
Do microdeletions lead to immune deficiency?
- Published in:
- Central European Journal of Immunology, 2020, v. 45, n. 1, p. 69, doi. 10.5114/ceji.2020.94671
- By:
- Publication type:
- Article
Evaluation of Sporadic and Familial Cases with Craniofrontonasal Syndrome: A Wide Clinical Spectrum and Identification of a Novel EFNB1 Gene Mutation.
- Published in:
- Molecular Syndromology, 2021, v. 12, n. 5, p. 269, doi. 10.1159/000515697
- By:
- Publication type:
- Article
Novel Ocular and Inner Ear Anomalies in a Patient with Myhre Syndrome.
- Published in:
- Molecular Syndromology, 2019, v. 10, n. 6, p. 339, doi. 10.1159/000504829
- By:
- Publication type:
- Article
Detection of SHOX Gene Variations in Patients with Skeletal Abnormalities with or without Short Stature.
- Published in:
- Journal of Clinical Research in Pediatric Endocrinology, 2020, v. 12, n. 4, p. 358, doi. 10.4274/jcrpe.galenos.2020.2019.0001
- By:
- Publication type:
- Article
Three Siblings with Idiopathic Hypogonadotropic Hypogonadism in a Nonconsanguineous Family: A Novel KISS1R/GPR54 Loss-of- Function Mutation.
- Published in:
- Journal of Clinical Research in Pediatric Endocrinology, 2019, v. 11, n. 4, p. 444, doi. 10.4274/jcrpe.galenos.2019.2018.0230
- By:
- Publication type:
- Article
Melanocortin-4 Receptor Gene Mutations in a Group of Turkish Obese Children and Adolescents.
- Published in:
- Journal of Clinical Research in Pediatric Endocrinology, 2017, v. 9, n. 3, p. 216, doi. 10.4274/jcrpe.4225
- By:
- Publication type:
- Article
A Case with Infantile-Onset Pancytopenia and Hyperglycemia Associated with SLC19A2 Mutation.
- Published in:
- 2015
- By:
- Publication type:
- Abstract
A Case with Acrodysostosis and Hormone Resistance.
- Published in:
- 2015
- By:
- Publication type:
- Abstract
Phenotype-Genotype Correlations in Bardet-Biedl Syndrome Patients with Molecular Analysis.
- Published in:
- 2015
- By:
- Publication type:
- Abstract
Screening of PROP-1, LHX2, and POU1F1 Mutations in Patients with Ectopic Posterior Pituitary Gland.
- Published in:
- 2015
- By:
- Publication type:
- Abstract
46,XY Complete Gonadal Dysgenesis: A Case Report.
- Published in:
- 2015
- By:
- Publication type:
- Abstract
A Case with Infantile-Onset Pancytopenia and Hyperglycemia Associated with SLC19A2 Mutation.
- Published in:
- 2015
- By:
- Publication type:
- Case Study
Phenotype-Genotype Correlations in Bardet-Biedl Syndrome Patients with Molecular Analysis.
- Published in:
- Journal of Clinical Research in Pediatric Endocrinology, 2015, v. 7, p. 82
- By:
- Publication type:
- Article
A Case with Acrodysostosis and Hormone Resistance.
- Published in:
- Journal of Clinical Research in Pediatric Endocrinology, 2015, v. 7, p. 75
- By:
- Publication type:
- Article
46,XY Complete Gonadal Dysgenesis: A Case Report.
- Published in:
- 2015
- By:
- Publication type:
- Case Study
Screening of PROP-1, LHX2, and POU1F1 Mutations in Patients with Ectopic Posterior Pituitary Gland.
- Published in:
- Journal of Clinical Research in Pediatric Endocrinology, 2015, v. 7, p. 65
- By:
- Publication type:
- Article
CYP4F22 Gene Mutations in Patients with Autosomal Recessive Congenital Ichthyosis: Identification of Two Novel Mutations.
- Published in:
- Turkish Journal of Dermatology / Turk Dermatoloji Dergisis, 2020, v. 14, n. 4, p. 90, doi. 10.4103/tjd.tjd_91_20
- By:
- Publication type:
- Article
Concomitant Alpha- and Gamma-Sarcoglycan Deficiencies in a Turkish Boy with a Novel Deletion in the Alpha-Sarcoglycan Gene.
- Published in:
- 2014
- By:
- Publication type:
- Case Study
A novel KIF11 mutation in a Turkish patient with microcephaly, lymphedema, and chorioretinal dysplasia from a consanguineous family.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 7, p. 1686, doi. 10.1002/ajmg.a.35371
- By:
- Publication type:
- Article
HAX1 mutation positive children presenting with haemophagocytic lymphohistiocytosis.
- Published in:
- British Journal of Haematology, 2017, v. 177, n. 4, p. 597, doi. 10.1111/bjh.14574
- By:
- Publication type:
- Article
Sequence and Copy Number Analyses of HEXB Gene in Patients Affected by Sandhoff Disease: Functional Characterization of 9 Novel Sequence Variants.
- Published in:
- PLoS ONE, 2012, v. 7, n. 7, p. 1, doi. 10.1371/journal.pone.0041516
- By:
- Publication type:
- Article
Pontocerebellar hypoplasia type III (CLAM): Extended phenotype and novel molecular findings.
- Published in:
- Journal of Neurology, 2009, v. 256, n. 3, p. 416, doi. 10.1007/s00415-009-0094-0
- By:
- Publication type:
- Article
Microcephaly with or without chorioretinopathy, lymphoedema, or mental retardation (MCLMR): review of phenotype associated with KIF11 mutations.
- Published in:
- European Journal of Human Genetics, 2014, v. 22, n. 7, p. 881, doi. 10.1038/ejhg.2013.263
- By:
- Publication type:
- Article
Identification of a novel homozygous NR5A1 variant in a patient with a 46,XY disorders of sex development.
- Published in:
- Journal of Pediatric Endocrinology & Metabolism, 2024, v. 37, n. 6, p. 575, doi. 10.1515/jpem-2023-0551
- By:
- Publication type:
- Article
Screening of non-syndromic early-onset child and adolescent obese patients in terms of LEP, LEPR, MC4R and POMC gene variants by next-generation sequencing.
- Published in:
- Journal of Pediatric Endocrinology & Metabolism, 2022, v. 35, n. 8, p. 1041, doi. 10.1515/jpem-2022-0027
- By:
- Publication type:
- Article
A novel splice site mutation of FGD1 gene in an Aarskog-Scott syndrome patient with a large anterior fontanel.
- Published in:
- Journal of Pediatric Endocrinology & Metabolism, 2016, v. 29, n. 9, p. 1111, doi. 10.1515/jpem-2015-0482
- By:
- Publication type:
- Article
Two different patterns of mini-puberty in two 46,XY newborns with 17β-hydroxysteroid dehydrogenase type 3 deficiency.
- Published in:
- Journal of Pediatric Endocrinology & Metabolism, 2015, v. 28, n. 7/8, p. 961, doi. 10.1515/jpem-2014-0365
- By:
- Publication type:
- Article
Attempted suicide with levothyroxine in an adolescent girl.
- Published in:
- Journal of Pediatric Endocrinology & Metabolism, 2013, v. 26, n. 1/2, p. 129, doi. 10.1515/jpem-2012-0247
- By:
- Publication type:
- Article
Phenotypic spectrum of CHARGE syndrome based on clinical characteristics.
- Published in:
- Turkish Journal of Medical Sciences, 2018, v. 48, n. 5, p. 911, doi. 10.3906/sag-1611-107
- By:
- Publication type:
- Article
Kromozom 22q11.2 Delesyon Sendromu Tanılı Hastaların Klinik ve Laboratuvar Özellikleri.
- Published in:
- Turkiye Klinikleri Journal of Pediatrics / Türkiye Klinikleri Pediatri Dergisi, 2021, v. 30, n. 2, p. 117, doi. 10.5336/pediatr.2021-81283
- By:
- Publication type:
- Article
Genetic approach to the patient and the family: A Rett Syndrome case with p.R270X mutation in MECP2 gene.
- Published in:
- 2013
- By:
- Publication type:
- Case Study
The clinical and molecular features of three Turkish patients with a rare genetic disorder: 2q37 deletion syndrome.
- Published in:
- Turkish Journal of Pediatrics, 2019, v. 61, n. 4, p. 589, doi. 10.24953/turkjped.2019.04.017
- By:
- Publication type:
- Article
Child with RET proto-oncogene codon 634 mutation.
- Published in:
- Turkish Journal of Pediatrics, 2017, v. 59, n. 5, p. 590, doi. 10.24953/turkjped.2017.05.014
- By:
- Publication type:
- Article
AUDIOLOGICAL EVALUATION OF A 44-MONTH OLD CHILD WITH BURN-MCKEOWN SYNDROME:CASE REPORT.
- Published in:
- Journal of International Advanced Otology, 2015, v. 11, p. 81
- By:
- Publication type:
- Article
Childhood onset limb-girdle muscular dystrophies in the Aegean part of Turkey.
- Published in:
- Acta Myologica, 2018, v. 37, n. 3, p. 210
- By:
- Publication type:
- Article
A Neonatal Case of Infantile Malignant Osteopetrosis Presenting with Thrombocytopenia and Hypotonicity: A Novel Mutation in Chloride Voltage-Gated Channel 7 Gene.
- Published in:
- Medical Bulletin of Sisli Etfal Hospital, 2022, v. 56, n. 1, p. 161, doi. 10.14744/SEMB.2021.88964
- By:
- Publication type:
- Article
Clinical and Genetic Characteristics of Patients with Common and Rare Types of Congenital Adrenal Hyperplasia: Novel Variants in STAR and CYP17A1.
- Published in:
- Medical Bulletin of Sisli Etfal Hospital, 2022, v. 56, n. 2, p. 291, doi. 10.14744/SEMB.2021.28044
- By:
- Publication type:
- Article
Acrocallosal Syndrome First Presenting with Acute Lymphoblastic Leukemia: A Rare Case Report.
- Published in:
- 2019
- By:
- Publication type:
- Case Study
A Null Mutation of TNFRSF11A Causes Dysosteosclerosis, Not Osteopetrosis.
- Published in:
- Frontiers in Genetics, 2022, v. 13, p. 1, doi. 10.3389/fgene.2022.938814
- By:
- Publication type:
- Article
The association between brain natriuretic peptide and tissue Doppler parameters in children with hypertrophic cardiomyopathy.
- Published in:
- Bosnian Journal of Basic Medical Sciences, 2016, v. 16, n. 1, p. 58, doi. 10.17305/bjbms.2016.670
- By:
- Publication type:
- Article
Spectrum of Clinical Manifestations in Turkish Patients with Williams-Beuren Syndrome: A Monocentric Study.
- Published in:
- Journal of Pediatric Research, 2021, v. 8, n. 3, p. 297, doi. 10.4274/jpr.galenos.2021.10179
- By:
- Publication type:
- Article
Combined use of genetic and immunohistochemical analysis is a critical step in differential diagnosis of sarcoglycanopathies.
- Published in:
- Journal of Dr. Behcet Uz Children's Hospital, 2017, v. 7, n. 3, p. 247, doi. 10.5222/buchd.2017.247
- By:
- Publication type:
- Article
A Case of Turner Syndrome with Concomitant Transient Hypogammaglobulinaemia of Infancy and Central Diabetes Insipidus.
- Published in:
- Journal of Clinical Research in Pediatric Endocrinology, 2013, v. 5, n. 1, p. 62, doi. 10.4274/Jcrpe.880
- By:
- Publication type:
- Article
Hypochondroplasia in a Child with 1620C>G (Asn540Lys) Mutation in FGFR3.
- Published in:
- Journal of Clinical Research in Pediatric Endocrinology, 2012, v. 4, n. 4, p. 220, doi. 10.4274/Jcrpe.787
- By:
- Publication type:
- Article
A Case Report of 9p Deletion Syndrome Associated with Partial Trisomy of 1q42.
- Published in:
- Maedica - a Journal of Clinical Medicine, 2017, v. 12, n. 1, p. 62
- By:
- Publication type:
- Article
Association of ARMS2 gene rs10490924 and HTRA1 gene rs11200638 Polymorphisms with Exudative Age-Related Macular Degeneration in Western Aegean Population of Turkey.
- Published in:
- Retina-Vitreus/Journal of Retina-Vitreous, 2021, v. 30, n. 2, p. 182, doi. 10.37845/ret.vit.2021.30.31
- By:
- Publication type:
- Article
Orodental, Facial and Clinical Features of Mutation-Positive Noonan Syndrome: A Monocentric Study.
- Published in:
- 2020
- By:
- Publication type:
- journal article
Mutation Spectrum and Phenotypic Features in Noonan Syndrome with PTPN11 Mutations: Definition of Two Novel Mutations.
- Published in:
- 2016
- By:
- Publication type:
- journal article
A rare cause of intellectual disability: Novel mutations of NFIX gene in two patients with clinical features of Marshall–Smith syndrome and Malan syndrome.
- Published in:
- International Journal of Developmental Neuroscience, 2023, v. 83, n. 5, p. 479, doi. 10.1002/jdn.10280
- By:
- Publication type:
- Article