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Session 13 |
Date Sept 18th |
Chairman: Hans-Hilger
Ropers |
Title Session XLMR screening and mechanisms |
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Time |
Old abstract # |
New abstract # |
Presenter |
Title
Presentation |
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11:40 – 12:00 |
49 |
Vera Kalscheuer |
TOWARDS UNDERSTANDING THE PATHOGENETIC MECHANISM OF
PQBP1 MUTATIONS IN X-LINKED MENTAL RETARDATION |
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12:00 -12:20 |
50
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Marijke Bauters
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X-LINKED MENTAL RETARDATION AND EPIGENETICS
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12:20 – 12:40 |
51 |
Angela Morgante |
EVALUATING THE CONTRIBUTION
OF X-CHROMOSOME MUTATIONS TO MENTAL RETARDATION BASED ON THE PATTERN OF X
INACTIVATION IN MOTHERS OF AFFECTED BOYS |
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12:40 -13:00
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52 |
Lucy Raymond |
A SYSTEMATIC, LARGE-SCALE RESEQUENCING AND COPY
NUMBER VARIANT SCREEN OF THE X CHROMOSOME CODING EXONS IN MENTAL RETARDATION |
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13:00 – 13:20 |
53 |
Phillippos Patsalis |
SCREENING OF A COHORT OF 100 MALE XLMR PATIENTS
USING A NEW FULL COVERAGE CHROMOSOME X EXON-SPECIFIC ARRAY |
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13:20 – 13:40 |
54 |
Pietro Chiurazzi |
CATALOGUE OF XLMR CONDITIONS (UPDATE 2009) AND TRANSCRIPTIONAL
PROFILE OF XLMR GENES IN HUMAN TISSUES |
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