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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
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- 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
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- Publication type:
- Article
A rare cause of membranoproliferative patterns of injury in siblings with steroid-resistant nephrotic syndrome: Questions.
- Published in:
- 2021
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- Publication type:
- Case Study
Spinal Musküler Atrofi Olgularının Klinik Özellikleri.
- Published in:
- Journal of Current Pediatrics / Guncel Pediatri, 2016, v. 14, n. 1, p. 18, doi. 10.4274/jcp.95866
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- Publication type:
- Article
Enhancer of zeste homolog 2 (EZH2) gene inhibition via 3-Deazaneplanocin A (DZNep) in human liver cells and it is relation with fibrosis.
- Published in:
- Turkish Journal of Biochemistry / Turk Biyokimya Dergisi, 2020, v. 45, n. 6, p. 737, doi. 10.1515/tjb-2019-0401
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- Publication type:
- Article
Patient with Weismann-Netter and Stuhl (Toxopachyosteosis) Syndrome with Communicant Hydrocephalus and Arachnoid Cyst.
- Published in:
- Journal of Pediatric Endocrinology & Metabolism, 2000, v. 13, n. 2, p. 211, doi. 10.1515/jpem.2000.13.2.211
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- 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
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- Publication type:
- Article
The role of TNF-α and PAI-1 gene polymorphisms in familial Mediterranean fever.
- Published in:
- Modern Rheumatology, 2013, v. 23, n. 1, p. 140, doi. 10.3109/s10165-012-0687-9
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- Publication type:
- Article
Autozygosity in a Turkish family with scoliosis, blindness, and arachnodactyly syndrome.
- Published in:
- 2015
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- 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
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- Publication type:
- Article
Holt-Oram syndrome in two generations with translocation t(9;15)(p12;q11.2).
- Published in:
- 2008
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- 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
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- Publication type:
- Article
Loss of dermatan sulfate epimerase (DSE) function results in musculocontractural Ehlers–Danlos syndrome.
- Published in:
- Human Molecular Genetics, 2013, v. 22, n. 18, p. 3761, doi. 10.1093/hmg/ddt227
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- Publication type:
- Article
The effect of cytokine leukemia-inhibitory factor (LIF) and interleukin-11 (IL-11) gene expression on the primary infertility related to polycystic ovary syndrome, Tubal factor, and Unexplained infertility in Turkish women.
- Published in:
- Egyptian Journal of Medical Human Genetics, 2021, v. 22, n. 1, p. 1, doi. 10.1186/s43042-021-00201-9
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- Publication type:
- Article
Sendromik olmayan ailesel işitme kaybının genetik temelinin araştırılması.
- Published in:
- Türk Pediatri Arşivi, 2017, v. 52, n. 3, p. 122, doi. 10.5152/TurkPediatriArs.2017.4254
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- Publication type:
- 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
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- Publication type:
- Article
ROMANIAN RED BIOTECHNOLOGY - BLENDING TRADITION WITH STATE OF THE ART IN THE EUROPEAN AND INTERNATIONAL FRAMEWORK.
- Published in:
- Scientific Papers. Series D. Animal Science, 2021, v. 64, n. 1, p. 273
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- Publication type:
- Article
A Case of Cardiophaciocutaneous Syndrome without Cardiac Manifestations.
- Published in:
- Gazi Medical Journal, 2024, v. 35, p. 79
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- Publication type:
- Article
The Case with the Novel NALCN Variant.
- Published in:
- Gazi Medical Journal, 2024, v. 35, p. 79
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- 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
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- 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
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- 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
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- 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
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- Publication type:
- Article
A Case of Char Syndrome with a Novel TFAP2B Variant.
- Published in:
- Gazi Medical Journal, 2024, v. 35, p. 55
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- Publication type:
- Article
A Novel Homozygous Variant in TBC1D24 Gene: A Case Report.
- Published in:
- Gazi Medical Journal, 2024, v. 35, p. 53
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- 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
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- 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
A Rare Variant in the CDH2 Gene: The Second ACOGS Case from Türkiye.
- Published in:
- Gazi Medical Journal, 2024, v. 35, p. 51
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- 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
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- 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
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- 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
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- 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
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- Publication type:
- Article
ANADOLU'DAKİ TIBBIN DOĞUŞU, DÜNYADAKİ İLK TIP OKULU OLARAK GEVHER NESİBE TIP MEDRESESİ VE DARÜŞŞİFASI.
- Published in:
- Bilimname, 2019, v. 39, n. 3, p. 79, doi. 10.28949/bilimname.594087
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- Publication type:
- Article
Mutations in the ARAP3 Gene in Three Families with Primary Lymphedema Negative for Mutations in Known Lymphedema-Associated Genes.
- Published in:
- International Journal of Genomics, 2020, p. 1, doi. 10.1155/2020/3781791
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- 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
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- Publication type:
- Article
The Age Structure, Stringency Policy, Income, and Spread of Coronavirus Disease 2019: Evidence From 209 Countries.
- Published in:
- Frontiers in Psychology, 2021, v. 11, p. N.PAG, doi. 10.3389/fpsyg.2020.632192
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- Publication type:
- Article
Handwriting tics in tourette's syndrome: a single Center study.
- Published in:
- Frontiers in Psychiatry, 2016, p. 1, doi. 10.3389/fpsyt.2016.00015
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- Publication type:
- Article
Neurobiology of maternal stress: role of social rank and central oxytocin in hypothalamic-pituitary adrenal axis modulation.
- Published in:
- Frontiers in Psychiatry, 2015, p. 1, doi. 10.3389/fpsyt.2015.00100
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- 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
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- Publication type:
- Article
A Glutamine Repeat Variant of the RUNX2 Gene Causes Cleidocranial Dysplasia.
- Published in:
- Molecular Syndromology, 2015, v. 6, n. 1, p. 50, doi. 10.1159/000370337
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- Publication type:
- Article
BRCA Variations Risk Assessment in Breast Cancers Using Different Artificial Intelligence Models.
- Published in:
- Genes, 2021, v. 12, n. 11, p. 1774, doi. 10.3390/genes12111774
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- Publication type:
- Article
Characterization of ETFDH and PHGDH Mutations in a Patient with Mild Glutaric Aciduria Type II and Serine Deficiency.
- Published in:
- Genes, 2021, v. 12, n. 5, p. 703, doi. 10.3390/genes12050703
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- Publication type:
- Article
Clinical and Mutational Spectrum of Xeroderma Pigmentosum in Egypt: Identification of Six Novel Mutations and Implications for Ancestral Origins.
- Published in:
- Genes, 2021, v. 12, n. 2, p. 295, doi. 10.3390/genes12020295
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- Publication type:
- Article
Current Status of Genetic Diagnosis Laboratories and Frequency of Genetic Variants Associated with Cystic Fibrosis through a Newborn-Screening Program in Turkey.
- Published in:
- Genes, 2021, v. 12, n. 2, p. 206, doi. 10.3390/genes12020206
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- Publication type:
- Article
Segregation Analysis of Rare NRP1 and NRP2 Variants in Families with Lymphedema.
- Published in:
- Genes, 2020, v. 11, n. 11, p. 1361, doi. 10.3390/genes11111361
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- Publication type:
- Article
Investigation of SNP rs2060546 Immediately Upstream to NTN4 in a Danish Gilles de la Tourette Syndrome Cohort.
- Published in:
- Frontiers in Neuroscience, 2016, v. 10, p. 1, doi. 10.3389/fnins.2016.00531
- By:
- Publication type:
- Article
Specific Medical Conditions Are Associated with Unique Behavioral Profiles in Autism Spectrum Disorders.
- Published in:
- Frontiers in Neuroscience, 2016, p. 1, doi. 10.3389/fnins.2016.00410
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- Publication type:
- Article
Uncovering the Social Deficits in the Autistic Brain. A Source-Based Morphometric Study.
- Published in:
- Frontiers in Neuroscience, 2016, v. 10, p. 1, doi. 10.3389/fnins.2016.00388
- By:
- Publication type:
- Article
Is idiopathic hirsutism (IH) really idiopathic? mRNA expressions of skin steroidogenic enzymes in women with IH.
- Published in:
- European Journal of Endocrinology, 2015, v. 173, n. 4, p. 447, doi. 10.1530/EJE-15-0460
- By:
- Publication type:
- Article
Prenatal Diagnosis of a Fetus with Partial Trisomy 7p.
- Published in:
- Fetal Diagnosis & Therapy, 2007, v. 22, n. 3, p. 229, doi. 10.1159/000098724
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- Publication type:
- Article