Found: 102
Select item for more details and to access through your institution.
A New Case of Translocation T(2;7)(p23;q35) in Recurrent Pregnancy Loss.
- Published in:
- Clinical Medicine & Research, 2023, v. 21, n. 1, p. 53, doi. 10.3121/cmr.2023.1766
- By:
- Publication type:
- Article
MTA Fillapex’in İn Vitro Genotoksisitesinin Değerlendirilmesinin Sistematik İncelemesi.
- Published in:
- Turkiye Klinikleri Journal of Dental Sciences, 2022, v. 28, n. 2, p. 372, doi. 10.5336/dentalsci.2021-83767
- By:
- Publication type:
- Article
A Case of Short Stature Caused by a Mutation in the ACAN Gene.
- Published in:
- Molecular Syndromology, 2023, v. 14, n. 2, p. 123, doi. 10.1159/000526166
- By:
- Publication type:
- Article
The frequencies of Y chromosome microdeletions in infertile males.
- Published in:
- Turkish Journal of Urology, 2018, v. 44, n. 5, p. 389, doi. 10.5152/tud.2018.73669
- By:
- Publication type:
- Article
Cytogenetic Results of Patients with Infertility in Middle Anatolia, Turkey: Do Heterochromatin Polymorphisms Affect Fertility?
- Published in:
- Journal of Reproduction & Infertility, 2010, v. 11, n. 3, p. 179
- By:
- Publication type:
- Article
Neonatal Diabetes, Congenital Hypothyroidism, and Congenital Glaucoma Coexistence: A Case of GLIS3 Mutation.
- Published in:
- Journal of Clinical Research in Pediatric Endocrinology, 2023, v. 15, n. 4, p. 426, doi. 10.4274/jcrpe.galenos.2022.2021-12-19
- By:
- Publication type:
- Article
Polycystic kidney disease, biliary dysgenesis in a patient with Larsen's syndrome.
- Published in:
- Clinical Genetics, 1997, v. 51, n. 6, p. 408, doi. 10.1111/j.1399-0004.1997.tb02500.x
- By:
- Publication type:
- Article
An autosomal recessive adducted thumb-club foot syndrome observed in Turkish cousins.
- Published in:
- Clinical Genetics, 1997, v. 51, n. 1, p. 61, doi. 10.1111/j.1399-0004.1997.tb02417.x
- By:
- Publication type:
- Article
Prenatal diagnosis of upper extremity malformations with ultrasonography: Diagnostic features and perinatal outcome.
- Published in:
- 2017
- By:
- Publication type:
- journal article
TIE1 as a Candidate Gene for Lymphatic Malformations with or without Lymphedema.
- Published in:
- International Journal of Molecular Sciences, 2020, v. 21, n. 18, p. 6780, doi. 10.3390/ijms21186780
- By:
- Publication type:
- Article
NOTCH1: Review of its role in lymphatic development and study of seven families with rare pathogenic variants.
- Published in:
- Molecular Genetics & Genomic Medicine, 2021, v. 9, n. 1, p. 1, doi. 10.1002/mgg3.1529
- By:
- Publication type:
- Article
Two rare PROX1 variants in patients with lymphedema.
- Published in:
- Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 10, p. 1, doi. 10.1002/mgg3.1424
- By:
- Publication type:
- Article
Genotype–phenotype correlation in children with familial Mediterranean fever in a Turkish population.
- Published in:
- Pediatrics International, 2008, v. 50, n. 2, p. 208, doi. 10.1111/j.1442-200X.2008.02554.x
- By:
- Publication type:
- Article
PPM1K defects cause mild maple syrup urine disease: The second case in the literature.
- Published in:
- American Journal of Medical Genetics. Part A, 2023, v. 191, n. 5, p. 1360, doi. 10.1002/ajmg.a.63129
- By:
- Publication type:
- Article
A new syndrome of microtia with unilateral renal agenesis and short stature.
- Published in:
- 2012
- By:
- Publication type:
- Other
Parental Karyotype and Genetic Markers for Thrombophilia in Recurrent Miscarriage.
- Published in:
- Journal of the Turkish-German Gynecological Association, 2008, v. 9, n. 3, p. 139
- By:
- Publication type:
- Article
The effects of streptozotocin-induced diabetes on ghrelin expression in rat testis: biochemical and immunohistochemical study.
- Published in:
- Folia Histochemica et Cytobiologica, 2015, v. 53, n. 1, p. 26, doi. 10.5603/FHC.a2015.0006
- By:
- Publication type:
- Article
Investigation of cytochrome p450 CYP1A2, CYP2D6, CYP2E1 and CYP3A4 gene expressions and polymorphisms in alcohol withdrawal.
- Published in:
- Klinik Psikiyatri Dergisi, 2021, v. 24, n. 3, p. 298, doi. 10.5505/kpd.2021.60938
- By:
- Publication type:
- Article
A novel missense mutation outside the DNAJ domain of DNAJC21 is associated with Shwachman–Diamond syndrome.
- Published in:
- British Journal of Haematology, 2022, v. 197, n. 6, p. e88, doi. 10.1111/bjh.18112
- By:
- Publication type:
- Article
Is there relation between COL4A1/A2 mutations and antenatally detected fetal intraventricular hemorrhage?
- Published in:
- Child's Nervous System, 2014, v. 30, n. 3, p. 419, doi. 10.1007/s00381-013-2338-7
- By:
- Publication type:
- Article
Current Advances in Breast Cancer: Implications for Developing New Treatment Strategies Through Epi-Drugs on the Road to Modifying the Epigenome.
- Published in:
- Journal of Clinical Practice & Research, 2023, v. 45, n. 5, p. 427, doi. 10.14744/cpr.2023.08208
- By:
- Publication type:
- Article
A Rare Cause of Hypotonia: 49,XXXXX (Pentasomy X).
- Published in:
- Journal of Pediatric Academy (J. Pediatr. Acad.), 2023, v. 4, n. 4, p. 149, doi. 10.4274/jpea.2023.230
- By:
- Publication type:
- Article
The Contributions of Memory and Vocabulary to Non-Verbal Ability Scores in Adolescents with Intellectual Disability.
- Published in:
- Frontiers in Psychiatry, 2016, v. 7, p. 1, doi. 10.3389/fpsyt.2016.00204
- By:
- Publication type:
- Article
Investigation of CDKL5 Gene Mutations in Autistic Patients Accompanied with Intractable Seizures, Autistic Disorder and Seizure in Infancy and Early Childhood.
- Published in:
- Cumhuriyet Medical Journal, 2022, v. 44, n. 2, p. 165, doi. 10.7197/cmj.1121531
- By:
- Publication type:
- Article
Expression of Biologically Active Human Interferon Gamma in the Milk of Transgenic Mice Under the Control of the Murine Whey Acidic Protein Gene Promoter.
- Published in:
- Biochemical Genetics, 2011, v. 49, n. 3/4, p. 251, doi. 10.1007/s10528-010-9403-7
- By:
- Publication type:
- Article
Maternal uniparental isodisomy is responsible for serious molybdenum cofactor deficiency.
- Published in:
- Developmental Medicine & Child Neurology, 2010, v. 52, n. 9, p. 868, doi. 10.1111/j.1469-8749.2010.03724.x
- By:
- Publication type:
- Article
Autozygosity in a Turkish family with scoliosis, blindness, and arachnodactyly syndrome.
- Published in:
- 2015
- By:
- Publication type:
- journal article
A molecular analysis of familial Mediterranean fever disease in a cohort of Turkish patients.
- Published in:
- Annals of Saudi Medicine, 2012, v. 32, n. 4, p. 343, doi. 10.5144/0256-4947.2012.343
- By:
- Publication type:
- Article
Holt-Oram syndrome in two generations with translocation t(9;15)(p12;q11.2).
- Published in:
- 2008
- By:
- Publication type:
- journal article
Holt-Oram syndrome in two generations with translocation t(9;15)(p12;q11.2).
- Published in:
- Annals of Saudi Medicine, 2008, v. 28, n. 3, p. 209
- By:
- Publication type:
- Article
A New Translocation in a Case of Recurrent Pregnancy Loss: t(2;7)(q31;p21).
- Published in:
- Gazi Medical Journal, 2024, v. 35, p. 67
- By:
- Publication type:
- Article
A Case of Cardiophaciocutaneous Syndrome without Cardiac Manifestations.
- Published in:
- Gazi Medical Journal, 2024, v. 35, p. 79
- By:
- Publication type:
- Article
The Case with the Novel NALCN Variant.
- Published in:
- Gazi Medical Journal, 2024, v. 35, p. 79
- By:
- Publication type:
- Article
Case Report: Patient with Merosin-Deficient Congenital Muscular Dystrophy with Occipital Lissencephaly.
- Published in:
- Gazi Medical Journal, 2024, v. 35, p. 77
- By:
- Publication type:
- Article
Duplication of 1q21.3q25.3 in a Newborn with Multiple Congenital Anomalies.
- Published in:
- Gazi Medical Journal, 2024, v. 35, p. 78
- By:
- Publication type:
- Article
Hereditary Hyperekplexia: Three Patients from Kayseri, Middle Anatolia and Three Different Genetic Findings by Different Methodology.
- Published in:
- Gazi Medical Journal, 2024, v. 35, p. 77
- By:
- Publication type:
- Article
A Case of Char Syndrome with a Novel TFAP2B Variant.
- Published in:
- Gazi Medical Journal, 2024, v. 35, p. 55
- By:
- Publication type:
- Article
Diagnosis of Townes-Brocks Syndrome in a Turkish Adolescent with End-Stage Renal Failure.
- Published in:
- Gazi Medical Journal, 2024, v. 35, p. 52
- By:
- Publication type:
- Article
Blended Phenotype in a Case with Brain Malformation, Neurodevelopmental Disorder and Epilepsy.
- Published in:
- Gazi Medical Journal, 2024, v. 35, p. 49
- By:
- Publication type:
- Article
A Novel Homozygous Variant in TBC1D24 Gene: A Case Report.
- Published in:
- Gazi Medical Journal, 2024, v. 35, p. 53
- By:
- Publication type:
- Article
An Interesting Family: A Patient with Blended Phenotype with Sexual Development Disorder and Coenzyme Q10 Deficiency and His Sibling Diagnosed with Joubert.
- Published in:
- Gazi Medical Journal, 2024, v. 35, p. 51
- By:
- Publication type:
- Article
Detection of Somatic Variant in PIK3R2 Gene in a Patient Followed with Galactosemia.
- Published in:
- Gazi Medical Journal, 2024, v. 35, p. 52
- By:
- Publication type:
- Article
A Rare Variant in the CDH2 Gene: The Second ACOGS Case from Türkiye.
- Published in:
- Gazi Medical Journal, 2024, v. 35, p. 51
- By:
- Publication type:
- Article
Adaptor Protein Complex 4-associated Hereditary Spastic Paraplegia: A Case Series of Seven Patients.
- Published in:
- Gazi Medical Journal, 2024, v. 35, p. 46
- By:
- Publication type:
- Article
Meeting Reports: Notes and commentaries on Turkish Medical Genetics Association and Cyprus Turkish Genetic Union Meeting.
- Published in:
- Gazi Medical Journal, 2020, v. 31, n. 3, p. 1
- By:
- Publication type:
- Article
Evaluation of aortic intima-media thickness in newborns with Down syndrome.
- Published in:
- Advances in Clinical & Experimental Medicine, 2017, v. 26, n. 8, p. 1253, doi. 10.17219/acem/68677
- By:
- Publication type:
- Article
Mesenchymal stem cells from adipose tissue prone to lose their stemness associated markers in obesity related stress conditions.
- Published in:
- Scientific Reports, 2024, v. 14, n. 1, p. 1, doi. 10.1038/s41598-024-70127-w
- By:
- Publication type:
- Article
The Association of Brain-Derived Neurotrophic Factor Gene Polymorphism with Obstructive Sleep Apnea Syndrome and Obesity.
- Published in:
- Lung, 2016, v. 194, n. 5, p. 839, doi. 10.1007/s00408-016-9894-z
- By:
- Publication type:
- Article
Recurrent symptomatic urolithiasis in a patient with cystic fibrosis.
- Published in:
- Pediatric Nephrology, 2024, v. 39, n. 12, p. 3467, doi. 10.1007/s00467-024-06433-2
- By:
- Publication type:
- Article
A rare cause of membranoproliferative patterns of injury in siblings with steroid-resistant nephrotic syndrome: Answers.
- Published in:
- Pediatric Nephrology, 2021, v. 36, n. 12, p. 4029, doi. 10.1007/s00467-021-05154-0
- By:
- Publication type:
- Article