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Genomic structure of chromosome 17p112 and mechanisms of deletion in

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Genomic structure of chromosome 17p112 and mechanisms of deletion in

Schematic representation of the chromosome 17p112 dual color Break

The SMS region on 17p112 A schematic showing the SMS region with

Contribution of genesregions on chromosome 17p112 toward the variable

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17p112 deletions identified in patients with SmithMagenis syndrome

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Schematic diagram of breakpoints for genesregions on chromosome

17p112 syndromes are much more than deletions and duplications

Genomic structure of chromosome 17p112p12 and the mechanism of

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Figure 1 from Duplication 17p112 PotockiLupski Syndrome in a child

Contribution of genesregions on chromosome 17p112 toward the variable

Clinical and cytogenetic features of a PotockiLupski syndrome with the

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Coexistence of a T118M PMP22 missense mutation and chromosome 17 17p11

High resolution 16 and 17 chromosomes of the patient Deletion in 16q12

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Genomic structure of chromosome 17p112 and mechanisms of deletion in

Chromosome 17p112 imbalance detected by NGS based CNVseq The region

Genomic structure of chromosome 17p112 and mechanisms of deletion in

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Schematic representation of the chromosome 17p112 dual color Break

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Nonrecurrent 17p112p12 Rearrangement Events that Result in Two

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Synteny and targeted endpoints A The 17p112 region of human

Clinical findings of duplication 17p112 Download Table

Physical map of the BHD critical region on 17p112 defined by critical

Genomic structure of chromosome 17p112p12 and the mechanism of

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Cardiovascular findings in duplication 17p112 syndrome Genetics in

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Estimation of the size of the chromosome 17p112 duplication in Charcot

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Neurologic and Developmental Features of the SmithMagenis Syndrome

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17p112 Copy number variation identified in the SMS cohort Download Table

Physical map of the BHD critical region on 17p112 defined by critical

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Localization of the human UbB polyubiquitin gene to chromosome band

Graphs represent results of 17p112 imbalance analyzed by Multiplex

Duplication within chromosome 17p112 in 12 families of French ancestry

Molecular genetic diagnostic deletion of 17p112 segment A analysis

Schematic representation of the chromosome 17p112 dual color Break

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Estimation of the size of the chromosome 17p112 duplication in Charcot

Contribution of genesregions on chromosome 17p112 toward the variable

Nonrecurrent 17p112p12 Rearrangement Events that Result in Two

Duplication within chromosome 17p112 in 12 families of French ancestry

Chromosome 17p112 imbalance detected by NGS based CNVseq The region

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Estimation of the size of the chromosome 17p112 duplication in Charcot

The i17q cluster breakpoint genomic architecture at 17p112 is

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Detection of classical 17p112 deletions an atypical deletion and RAI1

Duplication within chromosome 17p112 in 12 families of French ancestry

Expression signature of human endogenous retroviruses in chronic

Prenatal detection of the 17p112 duplication in CharcotMarieTooth

Localization of the human UbB polyubiquitin gene to chromosome band

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Nonspecific clinical features in patients with 17p112 deletion a

PDF Prenatal detection of a 17p112 duplication resulting from a rare

Pedigree of two fetuses in consecutive pregnancies with 17p112

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Schematic of genome structures in case 19 A Wild type of chromosome

Molecular genetic diagnostic deletion of 17p112 segment A analysis

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Detection of classical 17p112 deletions an atypical deletion and RAI1

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PDF Prenatal Diagnosis of 17p112 Copy Number Abnormalities

Detection of classical 17p112 deletions an atypical deletion and RAI1

Genomic structure of chromosome 17p112p12 and the mechanism of

A case of SmithMagenis syndrome with skin manifestations caused by a

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Genomic structure of chromosome 17p112p12 and the mechanism of

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Intellectual and Behavioral Phenotypes of SmithMagenis Syndrome

Localization of the human UbB polyubiquitin gene to chromosome band

Table 1 from Reciprocal crossovers and a positional preference for

Molecular mechanism for duplication 17p112 the homologous

Intellectual and Behavioral Phenotypes of SmithMagenis Syndrome

normative inversion of duplications of 4p163 16p133 17p112 and H19

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Parental origin and chromosomal mechanisms of 40 de novo 17p112

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Estimation of the size of the chromosome 17p112 duplication in Charcot

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PDF 17p112 and Xq28 duplication detected in a girl diagnosed with

重複17P11.2症候群 _ 微細重複症候群診断基準 – Xp11.22-p11.23 重複症候群 – LDNSD

17P112 Xp1122p1123 LDNSD

Figure 2 from Reciprocal crossovers and a positional preference for

PDF Whole Exome Sequencing on a multiplex family of Indian origin

Fullscale IQ scores of 41 individuals with SmithMagenis syndrome

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