Search results for "Human genetics"

Kathepsinaktivit�t im menschlichen Endometrium

1955

Die nach der Methode vonAnson bestimmte Kathepsinaktivitat im menschlichen Endometrium wahrend der verschiedenen Cyclusphasen zeigte keine signifikanten Unterschiede.

�ber die Beeinflussung der Desoxyribonucleotidase durch Xanthopterin

1950

�ber biochemische Wirkungen von Miracil D

1950

Tetrahydrofuran als Extraktionsmittel zur Lipoidbestimmung in Blut und Serum

1949

SNV-InDel working group: Results and lessons learned from the analysis of 22,035 exomes and genomes from 6 European reference networks

2023

Untersuchungen �ber die Verteilung der Hp-, Gc- und Gm-Gruppen in Pakistan

1966

Molecular and patho-physiological basis of syndromes with developmental anomalies and intellectual disability

2013

Intellectual disability (ID) corresponds to abnormal intellectual performances and adaptive functions, beginning in childhood. It is estimated that 2-3% of individuals develop a ID, which represents a significant medical challenge since people with ID are frequently in situations of social dependence. Overall, a critical involvement of genetic factors in this disease is suspected. To date, several hundreds of genes are known to be responsible for ID. The ID is particularly characterized by extreme clinical and genetic heterogeneity, that made it resistant to conventional genetic studies. However, it is classicaly separated between syndromic ID, which may be clinically recognizable due to as…

Polymorphisms in ABC transporter genes and concentrations of mercury in newborns - Evidence from two Mediterranean birth cohorts

2014

Background: The genetic background may influence methylmercury (MeHg) metabolism and neurotoxicity. ATP binding cassette (ABC) transporters actively transport various xenobiotics across biological membranes. Objective: To investigate the role of ABC polymorphisms as modifiers of prenatal exposure to MeHg. Methods: The study population consisted of participants (n = 1651) in two birth cohorts, one in Italy and Greece (PHIME) and the other in Spain (INMA). Women were recruited during pregnancy in Italy and Spain, and during the perinatal period in Greece. Total mercury concentrations were measured in cord blood samples by atomic absorption spectrometry. Maternal fish intake during pregnancy w…

�ber Die Geschlechtsbeeinflussende Wirkung Von Farballelen Bei Gammarus Pulex SSP. Subterraneus (Schneider)

1957

2006

Current usage of gene nomenclature is ambiguous and impairs the efficient handling of scientific information. Therefore it is important to propose guidelines to deal with this problem. This study attempts to evaluate the success of HUGO nomenclature for human genes. The results indicate that HUGO guidelines are not supported by the scientific community.