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Exploring unsolved cases of lissencephaly spectrum: integrating exome and genome sequencing for higher diagnostic yield
by
Furukawa, Shogo
,
Kato, Mitsuhiro
,
Ishiyama, Akihiko
,
Kumada, Tomohiro
,
Yoshida, Takeshi
,
Takeshita, Eri
,
Chong, Pin Fee
,
Yamanouchi, Hideo
,
Kotake, Yuko
,
Kyoda, Takayoshi
,
Nomura, Toshihiro
,
Miyata, Yohane
,
Nakashima, Mitsuko
,
Saitsu, Hirotomo
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Journal of human genetics
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Journal Of Human Genetics
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Subjects
1-Alkyl-2-Acetylglycerophosphocholine Esterase - Genetics
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45/23
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631/1647/514/2254
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631/208/212/2301
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631/208/366
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Biomedical And Life Sciences
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Biomedicine
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Cell Migration
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Child
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Child, Preschool
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Copy Number
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Dna Copy Number Variations - Genetics
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Doublecortin Protein
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Exome - Genetics
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Exome Sequencing
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Exons
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Female
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Gene Expression
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Gene Function
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Gene Therapy
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Springer Nature
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Springer Nature - Connect Here First To Enable Access
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Springer Journals
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