Results 141 to 150 of about 1,085 (157)
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[Genetic analysis and prenatal diagnosis for a family with megalencephalic leukoencephalopathy and subcortical cysts].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics, 2012
To identify potential mutation in the MLC1 gene in a Chinese family affected with megalencephalic leukoencephalopathy and subcortical cysts (MLC), and to provide prenatal diagnosis.Genomic DNA of the patients, their parents and younger sister were extracted from peripheral blood. That of the fetus was extracted from an amniotic fluid sample. A total of
Wei-qing, Wu   +5 more
openaire   +1 more source

Argentinian clinical genomics in a leukodystrophies and genetic leukoencephalopathies cohort: Diagnostic yield in our first 9 years

Annals of Human Genetics, 2020
Dolores González-Morón   +2 more
exaly  

Genetic testing in prostate cancer management: Considerations informing primary care

Ca-A Cancer Journal for Clinicians, 2022
Todd M Morgan   +2 more
exaly  

Clinical and genetic characterisation of adult onset leukoencephalopathy (P6.102)

Neurology, 2017
David Lynch   +9 more
openaire   +1 more source

Advances in the diagnosis of leukoencephalopathies

Expert Opinion on Medical Diagnostics, 2012
Doris D M Lin, Sakkubai Naidu
exaly  

Brain Calcifications in Adult-Onset Genetic Leukoencephalopathies: A Review

JAMA Neurology, 2017
Pierre Labauge   +2 more
exaly  

Clinicopathologic and Genetic Studies of 2 Patients With Hereditary Diffuse Leukoencephalopathy With Axonal Spheroids

Alzheimer Disease & Associated Disorders, 2016
Min-Yu, Lan   +6 more
openaire   +2 more sources

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