Matches in Nanopublications for { ?s ?p "[Using microarray-based comparative genomic hybridization, 3 patients with epilepsy were revealed to have genomic copy number aberrations at 17p13.3: a partial LIS1 deletion in a patient with isolated lissencephaly and epilepsy, a triplication of LIS1 in a patient with symptomatic West syndrome, and a terminal deletion of 17p including YWHAE and CRK but not LIS1 in a patient with intractable epilepsy associated with distinctive facial features and growth retardation.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en ?g. }
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- NP215533.RAyXB-KNnMXoT1PrEZ18JSdNed_4wNEg4gSXXYjFjsk38130_assertion description "[Using microarray-based comparative genomic hybridization, 3 patients with epilepsy were revealed to have genomic copy number aberrations at 17p13.3: a partial LIS1 deletion in a patient with isolated lissencephaly and epilepsy, a triplication of LIS1 in a patient with symptomatic West syndrome, and a terminal deletion of 17p including YWHAE and CRK but not LIS1 in a patient with intractable epilepsy associated with distinctive facial features and growth retardation.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP215533.RAyXB-KNnMXoT1PrEZ18JSdNed_4wNEg4gSXXYjFjsk38130_provenance.
- NP718372.RAdo0Fa31qRlZXDwRQoxE9toJ4R04LueOR0pSu8CrWZic130_assertion description "[Using microarray-based comparative genomic hybridization, 3 patients with epilepsy were revealed to have genomic copy number aberrations at 17p13.3: a partial LIS1 deletion in a patient with isolated lissencephaly and epilepsy, a triplication of LIS1 in a patient with symptomatic West syndrome, and a terminal deletion of 17p including YWHAE and CRK but not LIS1 in a patient with intractable epilepsy associated with distinctive facial features and growth retardation.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP718372.RAdo0Fa31qRlZXDwRQoxE9toJ4R04LueOR0pSu8CrWZic130_provenance.
- NP929314.RAxjulcDreaGwE4Vb2CGzwWIce4jtNBVgd-5wZlM6DA3E130_assertion description "[Using microarray-based comparative genomic hybridization, 3 patients with epilepsy were revealed to have genomic copy number aberrations at 17p13.3: a partial LIS1 deletion in a patient with isolated lissencephaly and epilepsy, a triplication of LIS1 in a patient with symptomatic West syndrome, and a terminal deletion of 17p including YWHAE and CRK but not LIS1 in a patient with intractable epilepsy associated with distinctive facial features and growth retardation.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP929314.RAxjulcDreaGwE4Vb2CGzwWIce4jtNBVgd-5wZlM6DA3E130_provenance.
- NP606069.RAQwqCYvQphgQ57FKlLarNNTw6EmCv9x4aJBiBzRyRorU130_assertion description "[Using microarray-based comparative genomic hybridization, 3 patients with epilepsy were revealed to have genomic copy number aberrations at 17p13.3: a partial LIS1 deletion in a patient with isolated lissencephaly and epilepsy, a triplication of LIS1 in a patient with symptomatic West syndrome, and a terminal deletion of 17p including YWHAE and CRK but not LIS1 in a patient with intractable epilepsy associated with distinctive facial features and growth retardation.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP606069.RAQwqCYvQphgQ57FKlLarNNTw6EmCv9x4aJBiBzRyRorU130_provenance.
- assertion description "[Using microarray-based comparative genomic hybridization, 3 patients with epilepsy were revealed to have genomic copy number aberrations at 17p13.3: a partial LIS1 deletion in a patient with isolated lissencephaly and epilepsy, a triplication of LIS1 in a patient with symptomatic West syndrome, and a terminal deletion of 17p including YWHAE and CRK but not LIS1 in a patient with intractable epilepsy associated with distinctive facial features and growth retardation.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." provenance.
- assertion description "[Using microarray-based comparative genomic hybridization, 3 patients with epilepsy were revealed to have genomic copy number aberrations at 17p13.3: a partial LIS1 deletion in a patient with isolated lissencephaly and epilepsy, a triplication of LIS1 in a patient with symptomatic West syndrome, and a terminal deletion of 17p including YWHAE and CRK but not LIS1 in a patient with intractable epilepsy associated with distinctive facial features and growth retardation.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." provenance.
- NP605907.RAtxpaOhvSJI3SSzUDxyxvE2aegj1k3afj5WqAd0hfEhQ130_assertion description "[Using microarray-based comparative genomic hybridization, 3 patients with epilepsy were revealed to have genomic copy number aberrations at 17p13.3: a partial LIS1 deletion in a patient with isolated lissencephaly and epilepsy, a triplication of LIS1 in a patient with symptomatic West syndrome, and a terminal deletion of 17p including YWHAE and CRK but not LIS1 in a patient with intractable epilepsy associated with distinctive facial features and growth retardation.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP605907.RAtxpaOhvSJI3SSzUDxyxvE2aegj1k3afj5WqAd0hfEhQ130_provenance.
- NP799644.RAGIqvF-H5esl9kndLjpkkUPeImHp2Bzpx6mdXEGy5pu4130_assertion description "[Using microarray-based comparative genomic hybridization, 3 patients with epilepsy were revealed to have genomic copy number aberrations at 17p13.3: a partial LIS1 deletion in a patient with isolated lissencephaly and epilepsy, a triplication of LIS1 in a patient with symptomatic West syndrome, and a terminal deletion of 17p including YWHAE and CRK but not LIS1 in a patient with intractable epilepsy associated with distinctive facial features and growth retardation.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP799644.RAGIqvF-H5esl9kndLjpkkUPeImHp2Bzpx6mdXEGy5pu4130_provenance.
- NP799645.RAMFzISCYuCZ19nF6aY-S-clRV7RrqkNZ4DqFtJ5fYA6M130_assertion description "[Using microarray-based comparative genomic hybridization, 3 patients with epilepsy were revealed to have genomic copy number aberrations at 17p13.3: a partial LIS1 deletion in a patient with isolated lissencephaly and epilepsy, a triplication of LIS1 in a patient with symptomatic West syndrome, and a terminal deletion of 17p including YWHAE and CRK but not LIS1 in a patient with intractable epilepsy associated with distinctive facial features and growth retardation.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP799645.RAMFzISCYuCZ19nF6aY-S-clRV7RrqkNZ4DqFtJ5fYA6M130_provenance.