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Toplam kayıt 32, listelenen: 11-20
Aramanızla eşleşen bölüm veya koleksiyonlar
Aramanızla eşleşen öğeler
Erişkinlerde İnflamatuvar Barsak Hastalığı Ve Çölyak Hastalığı Tanıları İle İzlenen Hastalarda LRBA (Lps-Responsive Beige-Like Anchor) Eksikliği İle İlişkili Primer İmmün Yetmezlik Varlığının Araştırılması
(Çocuk Sağlığı Enstitüsü, 2020-12)
In the present study, it was aimed to investigate the presence of the primary immunodeficiency disorder associated with LRBA deficiency in adult patients followed-up with diagnosis of inflammatory bowel disease (IBD) and ...
Myocilin Mt1 Promoter Polymorphism In Turkish Patients With Primary Open Angle Glaucoma
(Molecular Vision, 2005)
Purpose: To evaluate the association of the myocilin gene promoter variant -1000C>G (MYOC.mt1) with primary open angle glaucoma (POAG) and its possible role on the phenotype and the severity of glaucoma in Turkish patients. ...
Effects of Respiration on Left Ventricular Diastolic Function in Healthy Children
(The European Society of Cardiology, 1996)
Pulsed Doppler echocardiographic indices of mitral valve filling were measured in 20 healthy children, between 3 and 125 years old, in order to evaluate the effects of spontaneous respiration on left ventricular diastolic ...
Dynamics of the Rhomboid-Like Protein Rhbdd2 Expression in Mouse Retina And Involvement of Its Human Ortholog in Retinitis Pigmentosa
(Amer Soc Biochemistry Molecular Biology Inc, 2013)
The novel rhomboid-like protein RHBDD2 is distantly related to rhomboid proteins, a group of highly specialized membrane-bound proteases that catalyze regulated intramembrane proteolysis. In retina, RHBDD2 is expressed ...
Molecular Characterization Of Turkish Patients With Pyrimidine 5 ' Nucleotidase-I Deficiency
(Amer Soc Hematology, 2003)
Pyrimidine 5' nucleotidase-I (P5N-I) deficiency is a rare autosomal recessive disorder associated with hemolytic anemia, marked basophilic stippling, and accumulation of high concentrations of pyrimidine nucleotides within ...
Aspects of Pre-Eclamptic Toxemia of Pregnancy, Consanguinity, and Twinning in Ankara
(British Med Journal Publ Group, 1976)
It appears that women classed as having pre-eclamptic toxaemia are less frequently consanguineous with their husbands than all other mothers and in particular those mothers classed as having pregnancies complicated by ...
Novel Alu Retrotransposon Insertion Leading To Alstrom Syndrome
(Springer, 2012)
Alstrom syndrome is a clinically complex disorder characterized by childhood retinal degeneration leading to blindness, sensorineural hearing loss, obesity, type 2 diabetes mellitus, cardiomyopathy, systemic fibrosis, and ...
Interleukin-1 Induced Nuclear Factor-B Binds to a Disintegrin-Like and Metalloproteinase with Thrombospondin Type 1 Motif 9 Promoter in Human Chondrosarcoma Cells
(Spandidos Publ Ltd, 2015)
Nuclear factor-B (NF-B) is involved in the regulation of inflammation-associated genes. NF-B forms dimers which bind with sequences referred to as NF-B sites (9-11 bp). A disintegrin-like and metalloproteinase with ...