Results 181 to 188 of about 8,531 (188)

Neurofibromatosis type 1 in two siblings due to maternal germline mosaicism

Clinical Genetics, 2014
Leonardo Salviati, Eva Trevisson
exaly  

Germline mosaicism in neurofibromatosis type 1 due to a paternally derived multi‐exon deletion

American Journal of Medical Genetics, Part A, 2010
Sandra Giustini, Alessandro De Luca, Bruno Dallapiccola   +2 more
exaly  

Recurrent interstitial 1p36 deletions: Evidence for germline mosaicism and complex rearrangement breakpoints

American Journal of Medical Genetics, Part A, 2010
Marzena Gajęcka
exaly  

Germline mosaicism in a female who seemed to be a carrier by sequence analysis

Human Molecular Genetics, 1995
S S, Sommer, A, Knöll, C R, Greenberg, R P, Ketterling   +3 more
openaire   +2 more sources

Detection of low-level somatic and germline mosaicism by denaturing high-performance liquid chromatography in a EURO-MRX family with SLC6A8 deficiency

Neurogenetics, 2008
Efraim Rosenberg, Gajja Salomons, Jiddeke M Van De Kamp   +2 more
exaly  

Germline mosaicism and muscular dystrophies

2012
Tedeschi S, Torella A, Ventriglia VM, Passamano L, Picillo E, Calderone C, Viggiano E, D’Ambrosio P, Taglia A, NIGRO, Vincenzo, POLITANO, Luisa   +10 more
openaire   +1 more source

Germline mosaicism in a family affected by Diamond–Blackfan anaemia

British Journal of Haematology
Eoghan Dunlea, Sally Ann Lynch, Daniel Angelov, Melanie Cotter   +3 more
openaire   +2 more sources

Recurrence of achondrogenesis type 2 in sibs: Additional evidence for germline mosaicism

American Journal of Medical Genetics, Part A, 2010
exaly