Results 251 to 260 of about 1,069,421 (301)

A novel variant in NPR2: C.2291T > C (p.Leu764Pro) identified in a patient with acromesomelic dysplasia Maroteaux type. [PDF]

Ital J Pediatr
Dong Y, Pei S, Yang Z, Xue Y, Wang H.
europepmc   +1 more source

CFHR5 Nephropathy Case Report: A Novel Variant Characterized by Tubulointerstitial Kidney Disease.

Kidney Blood Press Res
Santarsiere R, Florio G, Gonnella A, D'Angiò P, Laurino S, Zacchia M, Del Vecchio Blanco F, Perna AF, Trepiccione F, Gigliotti G.   +9 more
europepmc   +1 more source

Identification of Novel RHD Variants

, 2013
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Nanoparticle enriched mass spectrometry proteomics in British South Asians identifies novel variant-protein-disease mechanisms

Pietzner M, Williamson A, Hunt KA, Koprulu M, Kohleick L, Demircan K, Genes & Health Research Team, Finer S, Zanini JC, van Heel DA, Langenberg C.   +10 more
europepmc   +1 more source

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Novel GATOR1 variants in focal epilepsy

Epilepsy & Behavior, 2023
Variants in GATOR1 genes are well established in focal epilepsy syndromes. A strong association of GATOR1 variants with drug-resistant epilepsy as well as an increased risk of sudden unexplained death in epilepsy warrants developing strategies to facilitate the identification of patients who could potentially benefit from genetic testing and precision ...
Maša Kovačević, Milena Janković, Marija Branković, Ognjen Milićević, Ivana Novaković, Dragoslav Sokić, Aleksandar Ristić, Jannah Shamsani, Nikola Vojvodić   +8 more
openaire   +2 more sources

TRIT1 deficiency: Two novel patients with four novel variants

European Journal of Medical Genetics, 2022
TRIT1 encodes a tRNA isopentenyl transferase that allows a strong interaction between the mini helix and the codon. Recent reports support the TRIT1 bi-allelic alterations as the cause of an autosomal recessive disorder, named combined oxydative phophorylation deficiency 35, with microcephaly, developmental disability, and epilepsy.
Smol, Thomas, Brunelle, Perrine, Caumes, Roseline, Boute-Benejean, Odile, Thuillier, Caroline, Figeac, Martin, Ait-Yahya, Emilie, Bonte, Fabrice, Mau-Them, Frederic Tran, Thauvin-Robinet, Christel, Faivre, Laurence, Roche-Lestienne, Catherine, Manouvrier-Hanu, Sylvie, Petit, Florence, Ghoumid, Jamal   +14 more
openaire   +4 more sources

Variants of the Novel Coronavirus

Journal of Clinical Case Reports and Studies, 2022
The novel coronavirus had emerged in 2019 from the Hubei province in China. Now the world is facing the third and fourth waves of the pandemic caused by this virus. These are due to the new mutants and variants of the virus that have emerged over time due to various reasons. It is important to keep oneself updated about these mutants and variants.
Sayan Bhattacharyya, Amitabha Dan, Dipak Pal   +2 more
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Naming a novel hemoglobin variant

Journal of Chromatography B, 2014
[No abstract available]
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Meshy meningioma: A potential novel variant

Neuropathology, 2001
A potential novel variant of meningioma is reported. The tumor was solid, hard, white‐colored, well circumscribed in a fibrous capsule and fixed to the dura, showing no invasion into the brain parenchyma. Histopathological study presented a sparsely cellular tumor composed of cells with fine reticular or mesh‐like cytoplasm, each containing an oval ...
H, Yamanouchi, H, Yokoo, T, Yoshida, M, Kamiya, A, Sasaki, J, Hirato, Y, Nakazato   +6 more
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Novel configurations and variants

1997
Compared with conventional bubbling and turbulent fluidized beds, circulating fluidized beds have many advantages including better gas—solids contacting and reduced backmixing (Lim et al., 1995). However, due to the core-annulus structure, particle backmixing along the wall can still be significant.
Yong Jin, Jing-Xu Zhu, Zhi-Qing Yu
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