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A novel missense variant in the ATPase domain of ATP8A2 and review of phenotypic variability of ATP8A2-related disorders caused by missense changes.
- Published in:
- Neurogenetics, 2024, v. 25, n. 4, p. 425, doi. 10.1007/s10048-024-00773-9
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- Publication type:
- Article
Rooting of hardwood cuttings of quince Cydonia oblonga L. as influenced by IBA and rooting substrate.
- Published in:
- Kufa Journal for Agricultural Science, 2024, v. 16, n. 3, p. 24, doi. 10.36077/kjas/2024/v16i3.11298
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- Publication type:
- Article
Acute retinal necrosis: clinical features, management and outcomes.
- Published in:
- International Ophthalmology, 2023, v. 43, n. 6, p. 1987, doi. 10.1007/s10792-022-02598-7
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- Publication type:
- Article
Derin Öğrenme Teknikleri Kullanılarak Sahte Yüz Fotoğrafı ve Videosu Sentezi.
- Published in:
- Duzce University Journal of Science & Technology, 2021, v. 9, n. 6, p. 354, doi. 10.29130/dubited.1017584
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- Publication type:
- Article
Cerebral Iron Accumulation Is Not a Major Feature of FA2H/ SPG35.
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- Movement Disorders Clinical Practice, 2015, v. 2, n. 1, p. 56, doi. 10.1002/mdc3.12118
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- Publication type:
- Article
Complications of otitis media.
- Published in:
- Medeniyet Medical Journal, 2016, v. 31, n. 2, p. 110, doi. 10.5222/MMJ.2016.110
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- Publication type:
- Article
Dual-channel plasmonic refractive index sensor based on H-shaped optical fibres for multi-analyte detection.
- Published in:
- Journal of Optics (09728821), 2023, v. 52, n. 3, p. 1171, doi. 10.1007/s12596-022-00944-7
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- Publication type:
- Article
Pathogenic variants in KCTD7 perturb neuronal K<sup>+</sup> fluxes and glutamine transport.
- Published in:
- Brain: A Journal of Neurology, 2016, v. 139, n. 12, p. 3109, doi. 10.1093/brain/aww244
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- Publication type:
- Article
Homozygous PLCB1 deletion associated with malignant migrating partial seizures in infancy.
- Published in:
- Epilepsia (Series 4), 2012, v. 53, n. 8, p. e146, doi. 10.1111/j.1528-1167.2012.03538.x
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- Publication type:
- Article
Prenatal diagnosis of ostium secundum atrial septal defect by M-mode fetal echocardiography.
- Published in:
- 1998
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- Publication type:
- journal article
Myometrial invasion of endometrium cancer assessed by transrectal ultrasonography.
- Published in:
- 1991
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- Publication type:
- journal article
Review of wireless body area networks: protocols, technologies, and applications.
- Published in:
- Bulletin of Electrical Engineering & Informatics, 2023, v. 12, n. 6, p. 3677, doi. 10.11591/eei.v12i6.5543
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- Publication type:
- Article
RETRACTED ARTICLE: ATP level in red blood cells improves by altering the low-level DPSS laser irradiation condition.
- Published in:
- 2023
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- Publication type:
- Correction Notice
THE TRAJECTORY AND CURRENT STATE OF INTRAKURDISH POLITICS IN KURDISTAN REGION, THE ROLE AND INFLUENCE OF IRAN AND TURKEY.
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- Turkish Journal of Police Studies / Polis Bilimleri Dergisi, 2016, v. 18, n. 1, p. 95
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- Publication type:
- Article
Gonadal mosaicism for ACTA1 gene masquerading as autosomal recessive nemaline myopathy.
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- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 8, p. 2219, doi. 10.1002/ajmg.a.37768
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- Publication type:
- Article
Novel copy number variants and major limb reduction malformation: Report of three cases.
- Published in:
- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 5, p. 1245, doi. 10.1002/ajmg.a.37550
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- Publication type:
- Article
A newly recognized autosomal recessive syndrome affecting neurologic function and vision.
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- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 6, p. 1207, doi. 10.1002/ajmg.a.35850
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- Publication type:
- Article
Congenital disorder of glycosylation IIa: The trouble with diagnosing a dysmorphic inborn error of metabolism.
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- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 1, p. 245, doi. 10.1002/ajmg.a.34347
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- Publication type:
- Article
Endoscopic Closure of Tracheoesophageal Fistulas With the Over-the-Scope Clip System.
- Published in:
- Journal of the College of Physicians & Surgeons Pakistan, 2014, v. 24, p. S193
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- Publication type:
- Article
Active Disease in Chronic Hepatitis C Patients with Normal Alanine Aminotransferase.
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- Journal of the College of Physicians & Surgeons Pakistan, 2014, v. 24, n. 2, p. 148
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- Publication type:
- Article
Homozygous HOXA1 mutations disrupt human brainstem, inner ear, cardiovascular and cognitive development.
- Published in:
- Nature Genetics, 2005, v. 37, n. 10, p. 1035, doi. 10.1038/ng1636
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- Publication type:
- Article
Mutation of TDP1, encoding a topoisomerase I–dependent DNA damage repair enzyme, in spinocerebellar ataxia with axonal neuropathy.
- Published in:
- Nature Genetics, 2002, v. 32, n. 2, p. 267, doi. 10.1038/ng987
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- Publication type:
- Article
Charcot-Marie-Tooth type 4B is caused by mutations in the gene encoding myotubularin-related protein-2.
- Published in:
- Nature Genetics, 2000, v. 25, n. 1, p. 17, doi. 10.1038/75542
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- Publication type:
- Article
Effect of Air Pollutants Particulate Matter PM<sub>2.5</sub>, PM<sub>10</sub>, Carbon Monoxide (CO), Nitrogen Dioxide (NO<sub>2</sub>), Sulfur Dioxide (SO<sub>2</sub>), and Ozone (O<sub>3</sub>) on Fractional Exhaled Nitric Oxide (FeNO).
- Published in:
- Pakistan Journal of Medical Sciences, 2024, v. 40, n. 8, p. 1719, doi. 10.12669/pjms.40.8.9630
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- Publication type:
- Article
A heterozygous mutation in the CCDC88C gene likely causes early-onset pure hereditary spastic paraplegia: a case report.
- Published in:
- 2021
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- Publication type:
- journal article
Case report of a novel homozygous splice site mutation in <italic>PLA2G6</italic> gene causing infantile neuroaxonal dystrophy in a Sudanese family.
- Published in:
- 2018
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- Publication type:
- Case Study
Energy efficient routing protocols in wireless body area networks for health monitoring: a review.
- Published in:
- Indonesian Journal of Electrical Engineering & Computer Science, 2023, v. 32, n. 2, p. 933, doi. 10.11591/ijeecs.v32.i2.pp933-944
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- Publication type:
- Article
Effect of Tick and Lice on Some Blood Constitute and Trace elements of Local Black Goat in Sulaimani, Kurdistan Region of Iraq.
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- Kurdistan Journal of Applied Research (KJAR), 2018, v. 3, n. 2, p. 42, doi. 10.24017/science.2018.3.8
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- Publication type:
- Article
Effect of Supplemental Pollination, Boron Spray and Cultivar on Fruit Quality and Quantity of Olive (Olea europaea L.).
- Published in:
- Kufa Journal for Agricultural Science, 2022, v. 14, n. 2, p. 67, doi. 10.36077/kjas/2022/v14i2.3842
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- Publication type:
- Article
Effect of Humic and Salicylic Acids Foliar Application on Vegetative Growth and Fruit Quality of Olive (c.v Sorani and Khadrawi).
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- Kufa Journal for Agricultural Science, 2022, v. 14, n. 2, p. 52, doi. 10.36077/kjas/2022/v14i2.3756
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- Publication type:
- Article
X ve Gama-Işını Dedektörlerinde Ölü Zaman Düzeltmesi İçin Bir Program.
- Published in:
- Gümüshane Üniversitesi Fen Bilimleri Enstitüsü Dergisi, 2016, v. 6, n. 1, p. 47, doi. 10.17714/gufbed.2016.06.006
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- Publication type:
- Article
Gümüşhane Merkez ve Merkeze Bağlı Bahçecik Köyü Su Kaynaklarının Radyoaktivitesinin Tayini.
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- Gümüshane Üniversitesi Fen Bilimleri Enstitüsü Dergisi, 2016, v. 6, n. 1, p. 13, doi. 10.17714/gufbed.2016.06.002
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- Publication type:
- Article
Gümüşhane İli Çevresinde Toplanan Toprak ve Karayosunu Örneklerinde Doğal (<sup>226</sup>Ra, <sup>232</sup>Th ve <sup>40</sup>K) ve Yapay (<sup>137</sup>Cs) Radyoaktivite Konsantrasyonlarının Belirlenmesi.
- Published in:
- Gümüshane Üniversitesi Fen Bilimleri Enstitüsü Dergisi, 2015, v. 5, n. 1, p. 24, doi. 10.17714/gufbed.2015.05.002
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- Publication type:
- Article
The effects of core stability exercises on proprioception and balance in children with hemiplegic cerebral palsy.
- Published in:
- Retos: Nuevas Perspectivas de Educación Física, Deporte y Recreación, 2023, v. 50, p. 1123, doi. 10.47197/retos.v50.98537
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- Publication type:
- Article
LIQUEFACTION POTENTIAL OF LAYERED SOIL UNDER VERTICAL VIBRATION LOADS.
- Published in:
- International Journal of GEOMATE, 2022, v. 23, n. 99, p. 141, doi. 10.21660/2022.99.3470
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- Publication type:
- Article
Pathogenic Variants in ABHD16A Cause a Novel Psychomotor Developmental Disorder With Spastic Paraplegia.
- Published in:
- Frontiers in Neurology, 2021, v. 12, p. 1, doi. 10.3389/fneur.2021.720201
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- Publication type:
- Article
New Findings in a Global Approach to Dissect the Whole Phenotype of <i>PLA2G6</i> Gene Mutations.
- Published in:
- PLoS ONE, 2013, v. 8, n. 10, p. 1, doi. 10.1371/journal.pone.0076831
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- Publication type:
- Article
Extremely low-frequency magnetic field induces manganese accumulation in brain, kidney and liver of rats.
- Published in:
- Toxicology & Industrial Health, 2015, v. 31, n. 6, p. 576, doi. 10.1177/0748233713480204
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- Publication type:
- Article
Endoscopic management of gastric band erosions: a 7-year series of 14 patients.
- Published in:
- Canadian Journal of Surgery, 2014, v. 57, n. 2, p. 106, doi. 10.1503/cjs.001313
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- Publication type:
- Article
Hyperekplexia, microcephaly and simplified gyral pattern caused by novel ASNS mutations, case report.
- Published in:
- 2016
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- Publication type:
- journal article
A novel syndrome of lethal familial hyperekplexia associated with brain malformation.
- Published in:
- BMC Neurology, 2012, v. 12, n. 1, p. 125, doi. 10.1186/1471-2377-12-125
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- Publication type:
- Article
Sleep-disordered breathing in children with craniosynostosis.
- Published in:
- Sleep & Breathing, 2013, v. 17, n. 1, p. 389, doi. 10.1007/s11325-012-0706-2
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- Publication type:
- Article
Platelet-rich plasma for laryngotracheal reconstruction: an experimental study.
- Published in:
- European Archives of Oto-Rhino-Laryngology, 2020, v. 277, n. 11, p. 3103, doi. 10.1007/s00405-020-06091-8
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- Publication type:
- Article
Application of computational fluid dynamics simulations in food industry.
- Published in:
- European Food Research & Technology, 2023, v. 249, n. 6, p. 1411, doi. 10.1007/s00217-023-04231-y
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- Publication type:
- Article
Developing A New Model for Rhinosinusitis: Animal Experiment.
- Published in:
- Istanbul Gelisim University Journal of Health Sciences / İstanbul Gelişim Üniversitesi Sağlık Bilimleri Dergisi, 2023, n. 20, p. 419, doi. 10.38079/igusabder.1288982
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- Publication type:
- Article
Kur'ân-ı Kerîm'de Nesh İddiası.
- Published in:
- Tasavvur: Tekirdag Theology Journal / Tekirdag Ilahiyat Dergisi, 2019, v. 5, n. 1, p. 463
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- Publication type:
- Article
Good Morals Among the Conditions of Turning to Allah in the Thought of Ibn Qayyim al-Jawzīyya.
- Published in:
- Turkey Journal of Theological Studies, 2023, v. 7, n. 4, p. 663, doi. 10.32711/tiad.1285517
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- Publication type:
- Article
أثر الروابط الاجتماعية في تحقيق الأخوة الإسلامية في عهد النبوة
- Published in:
- Journal of Islamic & Religious Studies / Majallah-yi ʿUlūm-i Islāmiyyah va Dīniyyah, 2018, v. 3, n. 2, p. 23
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- Publication type:
- Article
مراعاة الفروق الفردية في التوجيهات النبويّة للصحابة رضی اللہ عنھم
- Published in:
- Journal of Islamic & Religious Studies / Majallah-yi ʿUlūm-i Islāmiyyah va Dīniyyah, 2018, v. 3, n. 1, p. 63, doi. 10.12816/0048288
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- Publication type:
- Article
A null mutation in TNIK defines a novel locus for intellectual disability.
- Published in:
- Human Genetics, 2016, v. 135, n. 7, p. 773, doi. 10.1007/s00439-016-1671-9
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- Publication type:
- Article