过去一年中添加的文章，按日期排序
Elucidating the role of Cdk13 and Prkd1 in heart development and congenital heart disease
Q Waheed Ullah - eprints.nottingham.ac.uk
53 天前 - … The results from this research show that homozygous mutation of Cdk13 and Prkd1
are associated with severe forms of CHD and are embryonically lethal. However, survival to …
are associated with severe forms of CHD and are embryonically lethal. However, survival to …
Functional evaluation of novel variants of B4GALNT1 in a patient with hereditary spastic paraplegia and the general population
K Inamori, K Nakamura, F Shishido, JC Hsu… - Frontiers in …, 2024 - frontiersin.org
59 天前 - … The present study attempted to characterize a novel B4GALNT1 … study, we found
a novel missense variant (c.937G>A p.Asp313Asn) in the B4GALNT1 gene from a patient with …
a novel missense variant (c.937G>A p.Asp313Asn) in the B4GALNT1 gene from a patient with …
[HTML][HTML] Recent advances in the diagnostic methods and therapeutic strategies of transthyretin cardiac amyloidosis
C Kourek, A Briasoulis, DE Magouliotis… - World Journal of …, 2024 - ncbi.nlm.nih.gov
63 天前 - … genetic testing for the presence or absence of a transthyretin (TTR) variant in the
patient via TTR gene … grade 2 or 3 then TTR genetic testing so that to distinguish ATTRv from …
patient via TTR gene … grade 2 or 3 then TTR genetic testing so that to distinguish ATTRv from …
A novel start-loss mutation of the SLC29A3 gene in a consanguineous family with H syndrome: clinical characteristics, in silico analysis and literature review
N Rezaie, N Mansour Samaei, A Ghorbani… - BMC Medical …, 2024 - Springer
66 天前 - … The aim of this study is to present two Iranian patients with H … patients, considering
their phenotypes and initial diagnosis. The genetic analysis led to the identification of a novel …
their phenotypes and initial diagnosis. The genetic analysis led to the identification of a novel …
NEW TERT VARIANT IN A FAMILY WITH APLASTIC ANEMIA.
V Marijana, M Irena, A Marina… - Genetics & …, 2024 - search.ebscohost.com
68 天前 - … -recognized in these patients. For that reason, our findings point out the importance
for routine deep genetics screening for TERT rare variants in patients with family history of …
for routine deep genetics screening for TERT rare variants in patients with family history of …
[HTML][HTML] Uncovering the limitations and potential of Alzheimer's disease mouse models using mass spectrometry-based proteomics
K Wenger - 2024 - depositonce.tu-berlin.de
68 天前 - … using orthogonal techniques such as immunohistochemistry and functional biological
assays. This study presents a previously uncharted connection elucidating the interplay …
assays. This study presents a previously uncharted connection elucidating the interplay …
Congenital Dyserythropoietic Anaemia Type II with SEC23B Mutation in Adults: A Case Series
P Moule, D Gupta, C Agarwal, S Langer, A Saraf… - Indian Journal of …, 2024 - Springer
68 天前 - … We report two cases of CDA type 2 with the novel founder mutation Tyr462Cys in
exon 12 of SEC23B gene; one with severe transfusion-dependent anaemia since childhood …
exon 12 of SEC23B gene; one with severe transfusion-dependent anaemia since childhood …
Novel RNAi and CRISPR/Cas approaches for developing immunologic-safe cereal varieties
MH Guzmán López - 2024 - helvia.uco.es
72 天前 - … sera from patients with WDEIA. Firstly, we characterized these RNAi lines' gliadin
and glutenin content through high-performance liquid chromatography (HPLC) analysis. Then…
and glutenin content through high-performance liquid chromatography (HPLC) analysis. Then…
Characterisation of chromatin modifiers in endometrial cancer
KZ Kedzierska - 2024 - ora.ox.ac.uk
73 天前 - … between driver mutations and patient survival, revealing that mutations in PBRM1
and … and functional analyses of chromatin modifiers in EC, this thesis offers novel insights …
and … and functional analyses of chromatin modifiers in EC, this thesis offers novel insights …
[HTML][HTML] The importance of clinical and genetic diagnosis, systematic reporting, and biomarkers in the context of hereditary spastic paraparesis
E Cioffi - 2024 - iris.uniroma1.it
75 天前 - … of NGS in HSP, uncovering novel mutations, exploring the … for better defining
clinical characteristics and genotype-… blood cells and genetic testing. Their phenotype was …
clinical characteristics and genotype-… blood cells and genetic testing. Their phenotype was …