Results 181 to 190 of about 142,224 (201)

A Novel Single-Nucleotide Deletion (c.1020delA) in NSUN2 Causes Intellectual Disability in an Emirati Child

Journal of Molecular Neuroscience, 2015
Bassam R Ali, Lihadh Al-Gazali
exaly  

The snail superfamily of zinc-finger transcription factors

Nature Reviews Molecular Cell Biology, 2002
M Angela Nieto
exaly  

TDMA-Based MAC Protocols for Vehicular Ad Hoc Networks: A Survey, Qualitative Analysis, and Open Research Issues

IEEE Communications Surveys and Tutorials, 2015
Anis Laouiti, Leila Azouz Saidane
exaly  

Presence of a Deletion Mutation (c.716delA) in the Ligand Binding Domain of the Vitamin D Receptor in an Indian Patient with Vitamin D-Dependent Rickets Type II

Calcified Tissue International, 2009
Ravinder Goswami
exaly  

Prevalence of the 550delA mutation in calpainopathy (LGMD 2A) in Croatia

American Journal of Medical Genetics Part A, 2004
Giulio Piluso
exaly  

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