Results 171 to 180 of about 130,902 (295)

Lof der mobiliteit

AGORA Magazine, 2014
openaire   +1 more source

Data-driven prognostics using a combination of constrained K-means clustering, fuzzy modeling and LOF-based score

Neurocomputing, 2017
Alberto Diez-Olivan, J. Pagán, Ricardo Sanz, B. Sierra   +3 more
semanticscholar   +1 more source

Identification of a Novel Missense Homozygous Variant in LINS1 in Two Distinct Iranian Families With Consanguineous Marriage

Molecular Genetics &Genomic Medicine, Volume 14, Issue 2, February 2026.
A novel homozygous missense variant in LINS1 (c.1354G>C; p.Ala452Pro) was identified in two consanguineous families with autosomal recessive intellectual disability, supporting the gene's role in neurodevelopment and its relevance in genetic diagnosis and counseling of ARID. Reported pathogenic LINS1 variants.
Elham Alimoradi, Parham Nejati, Arash Salmaninejad, Nafiseh Falsafi, Fatemeh Molavi, Mohamad Javad Alibakhshi, Filippo Pinto e Vairo, Eric W. Klee, Reza Alibakhshi   +8 more
wiley   +1 more source

Rootstock selection and grafting systems affect pepino (Solanum muricatum) fruit nutritional quality and plant performance. [PDF]

BMC Plant Biol
Bao S, Si C, Sun Z, Wu Y, Wang X, Zhong Q, Yang S.   +6 more
europepmc   +1 more source

IKAROS Associated Immunodeficiency and Thrombotic Thrombocytopenic Purpura

Pediatric Blood &Cancer, Volume 73, Issue 2, February 2026.
ABSTRACT Pathogenic variants in IKZF1 (IKAROS) are linked to immunodeficiency, malignancy, and immune dysregulation. We describe a family with a rare IKZF1 variant presenting with humoral immunodeficiency and thrombotic thrombocytopenic purpura (TTP). A non‐consanguineous family was clinically monitored; clinical, immunological, and genetic data (exome
Ilia Spivak, Daniella Magen, Karin Weiss, Tamar Paperna, Suhair Hanna, Amos Etzioni, Adi Miller‐Barmak, Yonatan Butbul Aviel   +7 more
wiley   +1 more source

PERADIGM: Phenotype embedding similarity-based rare disease gene mapping. [PDF]

PLoS Genet
Zheng W, Xie Y, Gu J, Li H, Somlo S, Besse W, Zhao H.   +6 more
europepmc   +1 more source

A Framework for Prenatal Counselling Recommendations in Congenital Diaphragmatic Hernia: A RAND‐Modified Delphi Study

Prenatal Diagnosis, Volume 46, Issue 2, Page 295-305, February 2026.
ABSTRACT Objective To develop a consensus‐based framework to support individualized prenatal counselling for congenital diaphragmatic hernia. Method A RAND‐modified Delphi study was conducted with an expert panel of parents (n = 10) and healthcare professionals (n = 17) working in Dutch or Flemish CDH European Reference Network (ERN) centres.
Leonie Lof, Robin van der Lee, Anke Oerlemans, Anne Debeer, Jan Deprest, Francesca Russo, Philip DeKoninck, Suzan Cochius‐den Otter, Horst Daniels, Esther Sikkel, Anita Huis, Rosa Geurtzen, Neeltje Crombag   +12 more
wiley   +1 more source

Role of Laser Powder Bed Fusion Process Factors in Determining the Porosity Formation in 3D Printing of Stainless Steel 316L: Theoretical Modeling and Experimental Verification. [PDF]

Materials (Basel)
Stwora A, Teimouri R, Habel J.
europepmc   +1 more source

RNA Analysis Uncovers Pathogenic PARN Variant in Dyskeratosis Congenita

Clinical Genetics, Volume 109, Issue 2, Page 346-351, February 2026.
Using WGS and RNA analysis, we identified a branch point‐disrupting variant in the PARN gene and elucidated its pathogenic molecular mechanism in a child with atypical dyskeratosis congenita presentation. ABSTRACT Dyskeratosis congenita (DC) is a rare genetic disorder caused by impaired telomere maintenance, leading to diverse clinical manifestations ...
Daria Akimova, Natalia Semenova, Tatiana Cherevatova, Mikhail Skoblov   +3 more
wiley   +1 more source

Identification of Novel Susceptibility Genes for Early-Onset Colorectal Cancer Through Germline Rare Variant Burden Testing. [PDF]

Cancers (Basel)
Song R, Mikaeel RR, He Z, Horsnell M, Uylaki W, Meng W, Poplawski NK, Wollnik B, Li Y, Feng J, Scott HS, Shen Y, Wang C, Yin R, Ding Y, Llor X, Chung WK, Smith E, Price TJ, Young JP, Fan X.   +20 more
europepmc   +1 more source