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STANKIEWICZ, PAWEL

One or more keywords matched the following items that are connected to STANKIEWICZ, PAWEL

Item Type	Name
Academic Article	Genome architecture, rearrangements and genomic disorders.
Academic Article	Genomic disorders: genome architecture results in susceptibility to DNA rearrangements causing common human traits.
Academic Article	Clinical spectrum associated with recurrent genomic rearrangements in chromosome 17q12.
Academic Article	Cornelia de Lange syndrome case due to genomic rearrangements including NIPBL.
Academic Article	Genomic disorders: molecular mechanisms for rearrangements and conveyed phenotypes.
Academic Article	Complex rearrangements in patients with duplications of MECP2 can occur by fork stalling and template switching.
Academic Article	A syndrome of short stature, microcephaly and speech delay is associated with duplications reciprocal to the common Sotos syndrome deletion.
Academic Article	Intragenic rearrangements in NRXN1 in three families with autism spectrum disorder, developmental delay, and speech delay.
Academic Article	HERV-mediated genomic rearrangement of EYA1 in an individual with branchio-oto-renal syndrome.
Academic Article	Microdeletion and microduplication syndromes.
Academic Article	Early recurrence in standard-risk medulloblastoma patients with the common idic(17)(p11.2) rearrangement.
Academic Article	Role of genomic architecture in PLP1 duplication causing Pelizaeus-Merzbacher disease.
Academic Article	[Cytogenetic-molecular analysis of balanced chromosomal rearrangements in nine patients with intellectual disability, dysmorphic features and congenital abnormalities].
Academic Article	Copy number gain at Xp22.31 includes complex duplication rearrangements and recurrent triplications.
Academic Article	Small genomic rearrangements involving FMR1 support the importance of its gene dosage for normal neurocognitive function.
Academic Article	Inverted low-copy repeats and genome instability--a genome-wide analysis.
Concept	Gene Rearrangement
Academic Article	Absence of heterozygosity due to template switching during replicative rearrangements.
Academic Article	Alu-mediated diverse and complex pathogenic copy-number variants within human chromosome 17 at p13.3.
Academic Article	Deciphering the complexity of simple chromosomal insertions by genome sequencing.

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Gene Rearrangement