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Only about 5 10% of all breast cancer cases arise in families with various affected members throughout several generations that follow a pattern of autosomal dominant inheritance, with earlier age of onset, and/or presenting bilateral/multiple tumours and are considered to be hereditary breast cancer cases.
Moreover, distinct differences of the disease severity between various affected members within one family or between unrelated individuals carrying the same mutation could be observed [ 7, 14].
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To evaluate the clinical features associated with the RP10 form of autosomal-dominant retinitis pigmentosa in 11 affected members of various ages from one family with a defined IMPDH1 mutation (Asp226Asn).
All of those affected members have been without fingerprints since birth.
A total of 24 of the 50 affected members (47%) and 18 of the 284 unaffected members (6%) had aborted sudden death.
We identified 14 families with two affected members, five families with three affected members, one family with four affected members and one family with five affected members (Table S1).
We hypothesize, that two nosological effects may be superimposed in the affected members of the family.
The family had 7 affected members.
Of the 23 melanoma-prone families, two had four melanoma-affected members, five had three affected members, and 16 had two affected members.
We studied a large German kindred with 10 affected members.
Mutation analysis was carried out in the affected members.
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CEO of Professional Science Editing for Scientists @ prosciediting.com