Results 291 to 300 of about 714,661 (305)

Blue Cone Monochromacy Caused by the C203R Missense Mutation or Large Deletion Mutations

Investigative Ophthalmology and Visual Science, 2018
Alejandro J Roman, Bernd Wissinger, Artur V Cideciyan   +2 more
exaly  

A missense mutation of the Toll-like receptor 3 gene in a patient with influenza-associated encephalopathy

Clinical Immunology, 2006
Hiroyuki Nunoi, Koichiro Takeshige, Tatsushi Muta   +2 more
exaly  

Middle interhemispheric variant of holoprosencephaly: First prenatal report of a ZIC2 missense mutation

Clinical Case Reports (discontinued), 2020
Caroline Gounongbé, Martina Marangoni, Marie Cassart   +2 more
exaly  

Mutation, Missense

2001
openaire   +1 more source

Identification of a novel factor X deletion in combination with a missense mutation in the F10 gene

Hamostaseologie, 2009
Barbara Zieger, Johannes Oldenburg, A Pavlova   +2 more
exaly  

Identification of a novel missense mutation in angiogenin in a Chinese amyotrophic lateral sclerosis cohort

Amyotrophic Lateral Sclerosis and Other Motor Neuron Disorders, 2012
Li-Ying Cui, Jiming Kong, Zhangyu Zou
exaly  

Missense mutation Thr309Lys in the coagulation factor XII gene in a Spanish family with hereditary angioedema type III

Allergy: European Journal of Allergy and Clinical Immunology, 2009
E Fernández-Cruz
exaly  

Missense mutations at ATM gene and cancer risk

The Lancet, 1999
I, Vorechovsky, L, Luo, E, Ortmann, D, Steinmann, T, Dörk   +4 more
openaire   +2 more sources

A Missense Mutation in HK1 Leads to Autosomal Dominant Retinitis Pigmentosa

Investigative Ophthalmology and Visual Science, 2014
Paul S Bernstein, Rui Chen, Kang Zhang
exaly  

Missense rhodopsin mutation in a family with recessive RP

Nature Genetics, 1994
G, Kumaramanickavel, M, Maw, M J, Denton, S, John, C R, Srikumari, U, Orth, R, Oehlmann, A, Gal   +7 more
openaire   +2 more sources