全部文献期刊学位论文会议报纸专利标准年鉴图书|学者科研项目
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作者:Muna A. Al Dhaibani , Diane Allingham-Hawkins , Ayman W. El-Hattab
来源:[J].BMC Medical Genetics(IF 2.536), 2017, Vol.18 (1)Springer
摘要:Studying human genome using chromosomal microarrays has significantly improved the accuracy and yield of diagnosing genomic disorders. Chromosome 7q36 deletions and duplications are rare genomic disorders that have been reported in a limited number of children with developmental ...
作者:... Shivendra Kishore , Arndt Rolfs , Ayman W. El-Hattab
来源:[J].BMC Medical Genetics(IF 2.536), 2017, Vol.18 (1)Springer
摘要:Chromosomal rearrangements involving 17q23 have been described rarely. Deletions at 17q23.1q23.2 have been reported in individuals with developmental delay and growth retardation, whereas duplications at 17q23.1q23.2 appear to segregate with clubfoot. Dosage alterations in the TB...
作者:... Nenad Blau , Ayman W. El-Hattab , Majid Alfadhel
来源:[J].Pediatric Neurology(IF 1.416), 2019, Vol.96, pp.40-47Elsevier
摘要:Abstract(#br)Background(#br)Tetrahydrobiopterin is an essential cofactor for the hydroxylation of aromatic amino acids phenylalanine, tyrosine, and tryptophan. Therefore, tetrahydrobiopterin deficiency results in hyperphenylalaninemia as well as dopamine and serotonin depletion i...
作者:Ayman W. El-Hattab , Lisa T. Emrick ...
来源:[J].Mitochondrion(IF 4.025), 2014, Vol.18, pp.63-69Elsevier
摘要:Abstract(#br)The m.3243A>G mutation in the mitochondrial gene MT-TL1 leads to a wide clinical spectrum ranging from asymptomatic carriers to MELAS (mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes) at the severe end. Diabetes mellitus (DM) occurs in mito...
作者:Ayman W. El-Hattab , Majid Alfadhel ...
来源:[J].The Journal of Pediatrics(IF 4.035), 2014, Vol.164 (3), pp.553-559.e2Elsevier
摘要:Objective(#br)To determine the frequency of mitochondrial DNA depletion syndrome (MDS) in infants with cholestasis and liver failure and to further clarify the clinical, biochemical, radiologic, histopathologic, and molecular features associated with MDS due to deoxyguanosin...

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