[HTML][HTML] Pulmonary fibrosis may begin in infancy: from childhood to adult interstitial lung disease
M Griese, G Kurland, M Cidon, RR Deterding, R Epaud… - Thorax, 2024 - thorax.bmj.com
Background Childhood interstitial lung disease (chILD) encompasses a group of rare
heterogeneous respiratory conditions associated with significant morbidity and mortality …
heterogeneous respiratory conditions associated with significant morbidity and mortality …
RNA analysis and computer‐aided facial phenotyping help to classify a novel TRIO splice site variant
S Schwartzmann, M Zhao, HL Sczakiel… - American Journal of …, 2024 - Wiley Online Library
Pathogenic variants in TRIO, encoding the guanine nucleotide exchange factor, are
associated with two distinct neurodevelopmental delay phenotypes: gain‐of‐function …
associated with two distinct neurodevelopmental delay phenotypes: gain‐of‐function …
Deep Learning Methods for Binding Site Prediction in Protein Structures
EP Geraseva - … (Moscow), Supplement Series B: Biomedical Chemistry, 2024 - Springer
This work is an overview of deep machine learning methods aimed at predicting binding
sites in protein structures. Several classes of methods are selected: prediction of binding …
sites in protein structures. Several classes of methods are selected: prediction of binding …
Case Report: Clinical manifestations and treatment of two Chinese patients with FINCA syndrome carrying a novel variant of NHLRC2
Y Liu, H Wang, Y Tang, L Zhang, Y Su, Y Wang… - Frontiers in …, 2024 - frontiersin.org
Fibrosis, neurodegeneration, and cerebral angiomatosis (FINCA) syndrome is an autosomal
recessive genetic disorder caused by mutations in NHL-repeat-containing protein 2 …
recessive genetic disorder caused by mutations in NHL-repeat-containing protein 2 …
A new impact factor for EJHG in 2022
A McNeill - European Journal of Human Genetics, 2023 - nature.com
The impact factor for EJHG in 2022 is 5.2 (compared to 5.3 in 2021). EJHG now ranks 30th
out of 172 Genetics & Heredity journals. This is the journal's highest ranking since 2011 …
out of 172 Genetics & Heredity journals. This is the journal's highest ranking since 2011 …
FINCA disease mouse model exhibits altered behaviour and immune response
AE Hiltunen, SM Kangas, A Gondane, H Koivisto… - bioRxiv, 2024 - biorxiv.org
Fibrosis, neurodegeneration and cerebral angiomatosis (FINCA) is a childhood-onset multi-
organ neurodevelopmental disorder associated with multi-organ manifestations and …
organ neurodevelopmental disorder associated with multi-organ manifestations and …