Results 241 to 247 of about 13,071 (247)

Somatic mosaicism detected by exon-targeted, high-resolution aCGH in 10 362 consecutive cases

European Journal of Human Genetics, 2014
C A Shaw, James R Lupski, Tomasz Gambin   +2 more
exaly  

Somatic mosaicism and double somatic hits can lead to MSI colorectal tumors

Familial Cancer, 2012
Jeremie Lefèvre, Magali Svrcek, Chrystelle Colas   +2 more
exaly  

X-linked Parkinsonism with Intellectual Disability caused by novel mutations and somatic mosaicism in RAB39B gene

Parkinsonism and Related Disorders, 2017
Alessio Di Fonzo, Carrera Paola, Maria TERESA Bonati   +2 more
exaly  

Parental gonadal but not somatic mosaicism leading to de novo NFIX variants shared by two brothers with Malan syndrome

American Journal of Medical Genetics, Part A, 2019
Zdenek Sedlacek, MIROSLAVA Hancarova, Viktor Stránecký   +2 more
exaly  

Somatic‐gonadal mosaicism causing Sotos syndrome

American Journal of Medical Genetics Part A, 2016
Kamien, Benjamin, Dadd, Tessa, Buckman, Melissa, Ronan, Anne, Dudding, Tracy, Meldrum, Cliff, Scott, Rodney, Mina, Kym   +7 more
openaire   +4 more sources

[Advances in pathology of somatic mosaicism and mosaic diseases].

Zhonghua bing li xue za zhi = Chinese journal of pathology, 2022
openaire   +1 more source

Somatic APC mosaicism: a frequent cause of familial adenomatous polyposis (FAP)

Human Mutation, 2007
Stefan Aretz
exaly