Results 31 to 40 of about 54,157 (345)
Ruch Prawniczy, Ekonomiczny i Socjologiczny, 2023 One of the rules contained in the Code of Good Administrative Behavior adopted in 2001 by the European Parliament is the principle of impartiality and independence (Article 8).
Zbigniew Kmiecik
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Consanguinity and rare mutations outside of MCCC genes underlie nonspecific phenotypes of MCCD. [PDF]
, 2015 Purpose3-Methylcrotonyl-CoA carboxylase deficiency (MCCD) is an autosomal recessive disorder of leucine catabolism that has a highly variable clinical phenotype, ranging from acute metabolic acidosis to nonspecific symptoms such as developmental delay ...
Barshop, Bruce A +6 more
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Consanguineous Marriages in Pakistan [PDF]
The Pakistan Development Review, 1994 In societies where marriage is nearly universal, and the fertility process is almost entirely through marital union, the factors associated with the occurrence of marriage, and through it the reproduction and rearing of children, need to be continuously assessed.
Mohammad Afzal +2 more
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The Frequency of SMN1, SMN2 Copy Numbers in 246 Turkish Cases Analyzed with MLPA Method
Global Medical Genetics, 2023 This study aimed to define the copy numbers of SMN1 and SMN2 genes and the diagnosis rate and carrier frequency of spinal muscular atrophy (SMA) in the Thrace region of Turkey.
Sinem Yalcintepe +9 more
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Consanguinity in the Contemporary World [PDF]
Human Heredity, 2014 In medical genetics literature, a consanguineous marriage is usually defined as the union of a couple related as second cousins or closer...
Romeo, Giovanni, Bittles, Alan H
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The utility of whole exome sequencing in diagnosing pediatric neurological disorders
Balkan Journal of Medical Genetics, 2021 Pediatric neurological disorders have a wide spectrum of clinical presentations and can be challenging to diagnose. Whole exome sequencing (WES) is increasingly becoming an integral diagnostic tool in medicine.
Muthaffar OY
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Prevalence and Pattern of Consanguineous Marriages Among Different Communities in Mangalore [PDF]
, 2013 Introduction: Consanguineous marriages are a common practice in the Middle East, Asian and African populations. Many studies have stated an association between first cousin marriages and the incidence of autosomal recessive diseases and congenital ...
Avadhani, R, Bhagya, B, Sucharitha, S
core
Effect of consanguinity on birth weight for gestational age in a developing country. [PDF]
, 2007 Consanguinity, the marriage between relatives, has been associated with adverse child health outcomes because it increases homozygosity of recessive alleles.
Kanaan, Mona +7 more
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Consanguineous marriages, and the relationship between consanguineous
, 2011 Consanguineous marriages are common in Turkey. The rates and types of consanguineous marriages, and their relationship to abortions and infant mortality were investigated in Acipayam, a rural area of Denizli, Turkey. 795 families were interviewed using a pre-designed questionnaire. The total prevalence of consanguineous marriages is 17.5%.
Keskin, N, Bozkurt, AI, Keskin, A
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Frontiers in Genetics, 2022 Introduction: Primary ciliary dyskinesia (PCD) is caused by dysfunction of motile cilia resulting in insufficient mucociliary clearance of the lungs. The overall aim of this study is to identify disease causing genetic variants for PCD patients in the ...
Dalal A. Al-Mutairi +4 more
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