Results 251 to 260 of about 64,503 (262)

Recent human germ-line mutation: inferences from patients with hemophilia B

Trends in Genetics, 1995
Steve S Sommer
exaly  

Identification of a germ-line mutation in the p53 gene in a patient with an intracranial ependymoma.

Proceedings of the National Academy of Sciences of the United States of America, 1991
Val Sheffield, L Daneshvar, M S Edwards   +2 more
exaly  

Two new unstable haemoglobins leading to chronic haemolytic anaemia: Hb Caruaru [β 122 (GH5) Phe→Ser], a probable case of germ line mutation, and Hb Olinda [β 22 (B4) ‐ 25 (B7)], a deletion of a 12 base‐pair sequence

European Journal of Haematology, 2009
Fernando Costa
exaly  

Germ cell and other tumors in individuals with differences in sex development

Ca-A Cancer Journal for Clinicians
Selma Witchel, Reyes-Múgica M
exaly  

A patient with germ-line gain-of-function PDGFRB p.N666H mutation and marked clinical response to imatinib

Genetics in Medicine, 2018
Yoav Messinger, Demoulin Jb, Nancy J Mendelsohn   +2 more
exaly  

Arg120stop nonsense mutation in the RP2 gene: mutational hotspot and germ line mosaicism?

Clinical Genetics, 2004
Raj Ramesar, Lisa Roberts
exaly  

Highly variable recessive lethal or nearly lethal mutation rates during germ-line development of male Drosophila melanogaster

Proceedings of the National Academy of Sciences of the United States of America, 2011
Yunxin Fu, Ya-Ping Zhang, S A Barton
exaly  

Familial Lung Adenocarcinoma Caused by the EGFR V843I Germ-Line Mutation

Journal of Clinical Oncology, 2011
Kouki Ohtsuka, Yukio Morishita, Hiroaki Ohnishi   +2 more
exaly  

E-cadherin germ-line mutations in gastric cancer

European Biotechnology Newsletter, 1998
openaire   +1 more source

Testing for germ line p53 mutations in cancer families.

Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology, 1993
F P, Li, P, Correa, J F, Fraumeni
openaire   +1 more source