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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:Muna A. Al Dhaibani , Ayman W. El-Hattab ...
来源:[J].Journal of Neurogenetics(IF 2.159), 2018, Vol.32 (1), pp.1-5Taylor & Francis
摘要:Abstract(#br)We report a consanguineous family with three affected siblings with novel mutation in the KCNJ10 gene. All three presented with central nervous system symptoms in the form of infantile focal seizures, ataxia, slurred speech with early developmental delay and intellec...
作者:Muna A. Al Dhaibani , Diane Allingham-Hawkins , Ayman W. El-Hattab
来源:[J].2017, Vol.18 (1), pp.118BMC
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 developme...

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