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Notes on register variation and subject ellipsis in coordination
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A wide range of protective and predisposing variants in aggrecan influence the susceptibility for otosclerosis
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A nonsense variant in the DMD gene causes X-linked muscular dystrophy in the Maine coon cat
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Myostatin mutation causing double muscling could affect increased psoroptic mange sensitivity in dual purpose Belgian Blue cattle
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Biallelic variants in ZNF142 lead to a syndromic neurodevelopmental disorder
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The broad phenotypic spectrum of 17 alpha-hydroxylase/17,20-Iyase (CYP17A1) deficiency : a case series
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IGF1 haploinsufficiency in children with short stature : a case series
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New variants and in silico analyses in GRK1 associated Oguchi disease
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Prolyl endopeptidase-like is a (thio)esterase involved in mitochondrial respiratory chain function
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Rosiglitazone protects endothelial cells from irradiation-induced mitochondrial dysfunction
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ZMYND11-related syndromic intellectual disability : 16 patients delineating and expanding the phenotypic spectrum
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Evaluation of the protective potential of antibody and T cell responses elicited by a novel preventative vaccine towards respiratory syncytial virus small hydrophobic protein
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RBL1 (p107) functions as tumor suppressor in glioblastoma and small-cell pancreatic neuroendocrine carcinoma in Xenopus tropicalis
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Luspatercept in patients with lower-risk myelodysplastic syndromes
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OTULIN prevents liver inflammation and hepatocellular carcinoma by inhibiting FADD- and RIPK1 kinase-mediated hepatocyte apoptosis
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Pain-related behaviors and abnormal cutaneous innervation in a murine model of classical Ehlers-Danlos syndrome
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De novo and inherited pathogenic variants in KDM3B cause intellectual disability, short stature, and facial dysmorphism
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- Journal Article
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Complexity as L2-difficulty : implications for syntactic change
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- Journal Article
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Counteracting the effects of TNF receptor-1 has therapeutic potential in Alzheimer's disease
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The Lrp4R1170Q homozygous knock-in mouse recapitulates the bone phenotype of sclerosteosis in humans
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Role of the HLA-C*06 allele in clinical response to ustekinumab : evidence from real life in a large cohort of European patients
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A novel domain-specific mutation in a sclerosteosis patient suggests a role of LRP4 as an anchor for sclerostin in human bone
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Against the root analysis of subject contact relatives in English
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Novel FRMD7 mutations and genomic rearrangement expand the molecular pathogenesis of X-linked idiopathic infantile nystagmus
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Palindrome-mediated and replication-dependent pathogenic structural rearrangements within the NF1 gene
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Characterization of CSF2RA mutation related juvenile pulmonary alveolar proteinosis
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- Journal Article
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Novel and recurrent PITX3 mutations in Belgian families with autosomal dominant congenital cataract and anterior segment dysgenesis have similar phenotypic and functional characteristics
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The role of accessory proteins in the replication of feline infectious peritonitis virus in peripheral blood monocytes
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GATA3 antagonizes cancer progression in PTEN-deficient prostates
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Identification of a novel recurrent 1q42.2-1qter deletion in high risk MYCN single copy 11q deleted neuroblastomas
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- Journal Article
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VP-Ellipsis is not licensed by VP-Topicalization
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Identification of novel causative genes determining the complex trait of high ethanol tolerance in yeast using pooled-segregant whole-genome sequence analysis
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Copy number defects of G1-cell cycle genes in neuroblastoma are frequent and correlate with high expression of E2F target genes and a poor prognosis
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Androgen receptor (AR) in osteocytes is important for the maintenance of male skeletal integrity : evidence from targeted AR disruption in mouse osteocytes
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Isolation of disseminated neuroblastoma cells from bone marrow aspirates for pretreatment risk assessment by array comparative genomic hybridization
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Large deletions of the KCNV2 gene are common in patients with cone dystrophy with supernormal rod response
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Expanding the spectrum of FOXC1 and PITX2 mutations and copy number changes in patients with anterior segment malformations
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Rac1 is crucial for Ras-dependent skin tumor formation by controlling Pak1-Mek-Erk hyperactivation and hyperproliferation in vivo
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Chromosomal and microRNA expression patterns reveal biologically distinct subgroups of 11q- neuroblastoma
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Mutations in SACS cause atypical and late-onset forms of ARSACS
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Chromosome 3p microsatellite allelotyping in neuroblastoma: a report on the technical hurdles
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Challenges for CNV interpretation in clinical molecular karyotyping: lessons learned from a 1001 sample experience
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Mutation detection in the ABCC6 gene and genotype-phenotype analysis in a large international case series affected by pseudoxanthoma elasticum
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ArrayCGH-based classification of neuroblastoma into genomic subgroups
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A novel DFNA5 mutation does not cause hearing loss in an Iranian family
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Epithelial NEMO links innate immunity to chronic intestinal inflammation
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Essential role of chicken ovalbumin upstream promoter-transcription factor II in insulin secretion and insulin sensitivity revealed by conditional gene knockout
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Application of laser capture microdissection in genetic analysis of neuroblastoma and neuroblastoma precursor cells
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Frequent allelic loss at 10q23 but low incidence of PTEN mutations in Merkel cell carcinoma
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Characteristic pattern of chromosomal gains and losses in Merkel cell carcinoma detected by comparative genomic hybridization
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Balanced translocation in a neuroblastoma patient disrupts a cluster of small nuclear RNA UI and tRNA genes in chromosomal band Ip36
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I;17 translocations and other chromosome 17 rearrangements in human primary neuroblastoma tumors and cell lines
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Identification of the cellular protein encoded by the human Wilms tumor (WT1) gene
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Evidence for a relationship between Ehlers-Danlos type VII C in humans and bovine dermatosparaxis
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X-linked recessive chondrodysplasia punctata with XY translocation in a stillborn fetus
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The distal region of 11p13 and associated genetic diseases