Found: 23
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A Polymorphism in the IL-5 Gene is Associated with Inhibitor Development in Severe Hemophilia A Patients.
- Published in:
- Turkish Journal of Hematology, 2014, v. 31, n. 1, p. 17, doi. 10.4274/Tjh.2012.0197
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- Publication type:
- Article
Familial and sporadic 15q13.3 microdeletions in idiopathic generalized epilepsy: precedent for disorders with complex inheritance.
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- Human Molecular Genetics, 2009, v. 18, n. 19, p. 3626
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- Publication type:
- Article
Gene family information facilitates variant interpretation and identification of disease-associated genes in neurodevelopmental disorders.
- Published in:
- Genome Medicine, 2020, v. 12, n. 1, p. 1, doi. 10.1186/s13073-020-00725-6
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- Publication type:
- Article
De novo FZR1 loss-of-function variants cause developmental and epileptic encephalopathies.
- Published in:
- 2022
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- Publication type:
- journal article
Lafora Disease: Molecular Etiology.
- Published in:
- Epilepsi: Journal of the Turkish Epilepsi Society, 2018, v. 24, n. 1, p. 1, doi. 10.14744/epilepsi.2017.48278
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- Publication type:
- Article
Molecular pathology of haemophilia B in Turkish patients: identification of a large deletion and 33 independent point mutations.
- Published in:
- British Journal of Haematology, 2003, v. 120, n. 4, p. 656, doi. 10.1046/j.1365-2141.2003.04141.x
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- Publication type:
- Article
A Common VWF Exon 28 Haplotype in the Turkish Population.
- Published in:
- Clinical & Applied Thrombosis/Hemostasis, 2013, v. 19, n. 5, p. 550, doi. 10.1177/1076029612441054
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- Publication type:
- Article
A novel mutation in the sodium channel α1 subunit gene in a child with Dravet syndrome in Turkey.
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- Neural Regeneration Research, 2013, v. 8, n. 10, p. 955, doi. 10.3969/j.issn.1673-5374.2013.10.011
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- Publication type:
- Article
Double trouble: Duchenne muscular dystrophy and hemophilia.
- Published in:
- Pediatric Blood & Cancer, 2013, v. 60, n. 3, p. 525, doi. 10.1002/pbc.24376
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- Publication type:
- Article
Late-Onset Myoclonic Epilepsy in Down Syndrome: Investigation of EPM1 Gene Mutations in two Cases.
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- Journal of Neurological Sciences, 2016, v. 33, n. 1, p. 132
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- Publication type:
- Article
Dravet Sendromunda Kesin Sudep: Erişkin Bir Olgu Sunumu.
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- Journal of Neurological Sciences, 2015, v. 32, n. 3, p. 610
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- Publication type:
- Article
Does Experimental Morphine Addiction in Rats Change Physiological and Histological Characteristics of the Heart?
- Published in:
- Selcuk University Medical Journal, 2022, v. 38, n. 3, p. 128, doi. 10.30733/std.2022.01558
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- Publication type:
- Article
Mutations associated with hemophilia B in Turkish patients.
- Published in:
- Human Mutation, 1997, v. 10, n. 1, p. 76, doi. 10.1002/(SICI)1098-1004(1997)10:1<76::AID-HUMU11>3.0.CO;2-X
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- Publication type:
- Article
Identification of mutations in four hemophilia B patients of Turkish origin, including a novel deletion of base 6411.
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- Human Mutation, 1994, v. 4, n. 2, p. 163, doi. 10.1002/humu.1380040214
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- Publication type:
- Article
Functional characterisation of the type 1 von Willebrand disease candidate VWF gene variants: p.M771I, p.L881R and p.P1413L.
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- Blood Transfusion (17232007), 2017, v. 15, n. 6, p. 548, doi. 10.2450/2016.0034-16
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- Publication type:
- Article
Temperature and pharmacological rescue of a folding-defective, dominantl-negative K<sub>V</sub>7.2 mutation associated with neonatal seizures.
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- Human Mutation, 2011, v. 32, n. 10, p. E2283, doi. 10.1002/humu.21554
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- Publication type:
- Article
Possible role of SCN4A skeletal muscle mutation in apnea during seizure.
- Published in:
- Epilepsia Open, 2019, v. 4, n. 3, p. 498, doi. 10.1002/epi4.12347
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- Publication type:
- Article
Intron 22 inversions in the Turkish haemophilia A patients: prevalence and haplotype analysis.
- Published in:
- Haemophilia, 1999, v. 5, n. 3, p. 169, doi. 10.1046/j.1365-2516.1999.00307.x
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- Publication type:
- Article
Intron 22-specific long PCR for the Xba I polymorphism in the factor VIII gene.
- Published in:
- British Journal of Haematology, 1999, v. 105, n. 4, p. 1120, doi. 10.1046/j.1365-2141.1999.01430.x
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- Publication type:
- Article
Analysis of the two microsatellite repeat polymorphisms of the factor VIII gene in the Turkish population.
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- British Journal of Haematology, 1998, v. 100, n. 3, p. 589, doi. 10.1046/j.1365-2141.1998.00588.x
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- Publication type:
- Article
An association analysis at 2q36 reveals a new candidate susceptibility gene for juvenile absence epilepsy and/or absence seizures associated with generalized tonic-clonic seizures.
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- Epilepsia (Series 4), 2011, v. 52, n. 5, p. 975, doi. 10.1111/j.1528-1167.2010.02970.x
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- Publication type:
- Article
A novel missense mutation (N258S) in the KCNQ2 gene in a Turkish family afflicted with benign familial neonatal convulsions (BFNC).
- Published in:
- Turkish Journal of Pediatrics, 2007, v. 49, n. 4, p. 385
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- Publication type:
- Article
Pitfalls in genetic testing: the story of missed SCN1A mutations.
- Published in:
- Molecular Genetics & Genomic Medicine, 2016, v. 4, n. 4, p. 457, doi. 10.1002/mgg3.217
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- Publication type:
- Article