C

CAPALBO A.

Last name: CAPALBO A.

2022 (v1)

Publication

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#ESHREjc report: Non-invasive aneuploidy testing as an example of interdisciplinary innovation in ART

Ammar O. F. Massarotti C. Sharma K.

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Uploaded on: February 14, 2024
2015 (v1)

Publication

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A de novo 0.63Mb 6q25.1 deletion associated with growth failure, congenital heart defect, underdeveloped cerebellar vermis, abnormal cutaneous elasticity and joint laxity

Salpietro V. Ruggieri M. Mankad K.

Deletions of the long arm of chromosome 6 are rare and are characterized by great clinical variability according to the deletion breakpoint. We report a on 6-year-old girl with a de novo 0.63Mb deletion on chromosome 6q25.1 who demonstrated multiple congenital anomalies including a ventricular septal defect and an underdeveloped cerebellar...

Uploaded on: April 14, 2023