A New Patient with Potocki-Lupski Syndrome: A Literature Review.

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A New Patient with Potocki-Lupski Syndrome: A Literature Review.

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2017 nî lūn-bûn

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2017年の論文

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2017年学术文章

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2017年学术文章

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A New Patient with Potocki-Lupski Syndrome: A Literature Review.

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A New Patient with Potocki-Lupski Syndrome: A Literature Review.

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A New Patient with Potocki-Lupski Syndrome: A Literature Review.

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A New Patient with Potocki-Lupski Syndrome: A Literature Review.

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A New Patient with Potocki-Lupski Syndrome: A Literature Review.

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A New Patient with Potocki-Lupski Syndrome: A Literature Review.

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P1476

A New Patient with Potocki-Lupski Syndrome: A Literature Review.

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P2093

Alberto Verrotti

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Andrea Domenico Praticò

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Martino Ruggieri

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Piero Pavone

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Raffaele Falsaperla

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Renata Rizzo

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P2860

Genomic disorders: molecular mechanisms for rearrangements and conveyed phenotypes

NCBI Reference Sequence (RefSeq): a curated non-redundant sequence database of genomes, transcripts and proteins

Characterization of Potocki-Lupski syndrome (dup(17)(p11.2p11.2)) and delineation of a dosage-sensitive critical interval that can convey an autism phenotype

Neurodevelopmental Disorders Associated with Abnormal Gene Dosage: Smith-Magenis and Potocki-Lupski Syndromes

Identification of uncommon recurrent Potocki-Lupski syndrome-associated duplications and the distribution of rearrangement types and mechanisms in PTLS

Cognitive and behavioral characterization of the Potocki-Lupski syndrome (duplication 17p11.2).

Potocki-Lupski syndrome: a microduplication syndrome associated with oropharyngeal dysphagia and failure to thrive.

17p11.2 and Xq28 duplication detected in a girl diagnosed with Potocki-Lupski syndrome.

The utility of chromosomal microarray analysis in developmental and behavioral pediatrics.

Identification of a RAI1-associated disease network through integration of exome sequencing, transcriptomics, and 3D genomics.

P304

29-34

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P31

scholarly article

case report

P356

10.1055/S-0037-1604479

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P433

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P478

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P577

2017-07-27T00:00:00Z

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P698

29441219

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P932

5809167

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