نتایج جستجو برای: genotype phenotype correlation
تعداد نتایج: 615945 فیلتر نتایج به سال:
Journal:
:Journal of Cystic Fibrosis
2012
Journal:
:Kidney International Reports
2017
Journal:
:Investigative Opthalmology & Visual Science
2013
Spinocerebellar ataxia type 1 (SCA1): Phenotype-genotype correlation studies in intermediate alleles
Journal:
:European Journal of Human Genetics
2002
Journal:
:Pediatric Neurology
2018
Journal:
:Arquivos De Neuro-psiquiatria
2023
Background: Patients with LAMA2-congenital muscular dystrophy (CMD) usually present a severe phenotype characterized by inability to achieve walking capacity, multiple joint deformities, and respiratory insufficiency. However, there is gravity spectrum, some patients can walk unassisted. Characteristically, the have white matter changes in T2-WI FLAIR brain magnetic resonance. More rarely, cort...
Journal:
:Frontiers in Genetics
2020
Journal:
:Neurodegenerative Diseases
2010
Journal:
:Frontiers in Pediatrics
2018
Genotype-phenotype Correlation in Pelizaeus Merzbacher Disease and Pelizaeus Merzbacher-like Disease
Journal:
:Bezmialem Science
2019
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