Recurrent reciprocal deletions and duplications of 16p13.11: the deletion is a risk factor for MR/MCA while the duplication may be a rare benign variant. (Q37135729)

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scientific article published on 11 June 2008

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English	Recurrent reciprocal deletions and duplications of 16p13.11: the deletion is a risk factor for MR/MCA while the duplication may be a rare benign variant.	scientific article published on 11 June 2008

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8 January 2020

Recurrent reciprocal deletions and duplications of 16p13.11: the deletion is a risk factor for MR/MCA while the duplication may be a rare benign variant (English)

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8 January 2020

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Samantha J.L. Knight

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8 January 2020

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F D Hannes

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A J Sharp

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H C Mefford

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T de Ravel

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C A Ruivenkamp

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M H Breuning

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J-P Fryns

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K Devriendt

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G Van Buggenhout

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A Vogels

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H Stewart

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R C Hennekam

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G M Cooper

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R Regan

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E E Eichler

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J R Vermeesch

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11 June 2008

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8 January 2020

Journal of Medical Genetics

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8 January 2020

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223-232

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Recurrent reciprocal genomic rearrangements of 17q12 are associated with renal disease, diabetes, and epilepsy

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Global variation in copy number in the human genome

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Discovery of a previously unrecognized microdeletion syndrome of 16p11.2-p12.2.

1 reference

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based on heuristic

inferred from PubMed ID database lookup

The intrafamilial variability of the 22q11.2 microduplication encompasses a spectrum from minor cognitive deficits to severe congenital anomalies

1 reference

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12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1136/JMG.2007.055202

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8 January 2020

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8 January 2020

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8 January 2020

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