Search details
1.
Comprehensive analysis of circulating viral DNA in maternal plasma at population-scale using low-pass whole-genome sequencing.
Genomics
; 115(2): 110556, 2023 03.
Article
in English
| MEDLINE | ID: mdl-36599399
2.
Eighth case of Li-Campeau syndrome in a Turkish patient caused by a novel pathogenic variant in UBR7 and expanding the phenotype.
Am J Med Genet A
; 191(5): 1465-1469, 2023 05.
Article
in English
| MEDLINE | ID: mdl-36757286
3.
A homozygous MED11 C-terminal variant causes a lethal neurodegenerative disease.
Genet Med
; 24(10): 2194-2203, 2022 10.
Article
in English
| MEDLINE | ID: mdl-36001086
4.
ALDH1A3-related congenital microphthalmia-8 due to a novel frameshift variant.
Eur J Med Genet
; 66(8): 104801, 2023 Aug.
Article
in English
| MEDLINE | ID: mdl-37339696
5.
A novel biallelic LMNB2 variant in a patient with progressive myoclonus epilepsy and ataxia: A case of laminopathy.
Clin Case Rep
; 9(8): e04520, 2021 Aug.
Article
in English
| MEDLINE | ID: mdl-34466237
6.
De novo Mutation in CACNA1S Gene in a 20-Year-Old Man Diagnosed with Metabolic Myopathy.
Arch Iran Med
; 20(9): 617-620, 2017 Sep.
Article
in English
| MEDLINE | ID: mdl-29048924
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