Results 61 to 70 of about 6,275 (72)

The deoxyguanosine kinase gene is mutated in individuals with depleted hepatocerebral mitochondrial DNA

Nature Genetics, 2001
Orly Elpeleg, Ann Saada
exaly  

Relative high frequency of the c.255delA parkin gene mutation in Spanish patients with autosomal recessive parkinsonism

Journal of Neurology, Neurosurgery and Psychiatry, 2002
Pau Pastor, Rafael Oliva
exaly  

Rare c-KIT c.1926delA and c.1936T>G Mutations in Exon 13 Define Imatinib Resistance in Gastrointestinal Stromal Tumors and Melanoma Patients: Case Reports and Cell Experiments

Frontiers in Molecular Biosciences, 2022
exaly  

Two compound heterozygous mutations (c.215delA/c.2422T?C and c.387delC/c.1159G?A) in the thyroid peroxidase gene responsible for congenital goitre and iodide organification defect

Clinical Endocrinology, 2007
Rogelio González Sarmiento
exaly  

A novel PROP1 gene mutation (157delA) in Japanese siblings with combined anterior pituitary hormone deficiency

Clinical Endocrinology, 2004
Kiyoshi Kikuchi
exaly  

High prevalence of two BRCA1 mutations, 4154delA and 5382insC, in Latvia

Familial Cancer, 2005
exaly  

Haplotype analysis and ancient origin of the BRCA1 c.4035delA Baltic founder mutation

European Journal of Medical Genetics, 2013
exaly  

Ljubljanske vpadnice: vpogled v izbrana diplomska in magistrska dela skozi primerjavo:

2016
openaire   +1 more source

DeLA-DrugSelf: Empowering multi-objective de novo design through SELFIES molecular representation

Computers in Biology and Medicine
Domenico Alberga
exaly  

A novel homozygous mutation 371delA in TGM1 leads to a classic lamellar ichthyosis phenotype

British Journal of Dermatology, 2003
exaly