Disease: Dwarfism
- <em>MdARF3</em> switches the lateral root elongation to regulate dwarfing in apple plants
- A case of a syndrome characterized by short stature, and developmental delay caused by heterozygous variation in the FOXP4 gene
- A case report on congenital hypothyroidism and alpha thalassemia in children with anemia and muscle damage as the main manifestation
- A case report: Alport syndrome and growth hormone deficiency associated with a new <em>COL4A4</em> mutation
- A monoallelic UXS1 variant associated with short-limbed short stature
- A Novel Missense Variant in the NKX2-1 <em>Homeodomain</em> Prevents Transcriptional Rescue by TAZ
- A proteomic study of the downregulation of TRIM37 on chondrocytes: Implications for the MULIBREY syndrome
- A rare ACAN non-canonical splicing-site intron variant results in familial short stature
- Achondrogenesis type 1B: The need for clinical vigilance in the first trimester fetus with cystic hygroma and micromelic limbs
- Activation of stress-response genes by retrograde signaling-mediated destabilization of nuclear importin IMPα-9 and its interactor TPR2
- Advances in the management of achondroplasia
- ALDH2 mutations and defense against genotoxic aldehydes in cancer and inherited bone marrow failure syndromes
- Analysis of clinical characteristics and variant of NKX2-1 gene in a Chinese boy with Brain-Lung-Thyroid syndrome
- Arterial stroke in a child with Seckel syndrome with a pattern of non-moyamoya vasculopathy
- Association of the Achondroplasia Foramen Magnum Score and intraoperative neuromonitoring
- Autosomal Dominant Weill-Marchesani-Like Syndrome in a Chinese Family due to Novel Haplotypic Mutations in LTBP2
- B-cell immune deficiency in twin sisters expands the phenotype of MOPDI
- Bone lesions and intestinal barrier disruption caused by the isolated novel goose parvovirus infection in ducks
- Cartilage-hair hypoplasia-anauxetic dysplasia spectrum disorders harboring RMRP mutations in two Korean children: A case report
- Cervicomedullary Compression in Achondroplasia: A Feared Complication and an Unforeseen Risk Factor of Posterior Circulation Stroke
- Ciliopathies are responsible for short stature and insulin resistance: A systematic review of this clinical association regarding SOFT syndrome
- Clinical and genetic investigation of 14 families with various forms of short stature syndromes
- Clinical and molecular study of patients with thyroid dyshormogenesis and variants in the <em>thyroglobulin</em> gene
- Clinical characteristics of and growth hormone treatment effects on short stature with type 1 insulin-like growth factor receptor (IGF1R) gene alteration
- Clinical efficacy of multigene panels in the management of congenital hypothyroidism with gland in situ
- Cockayne Syndrome Linked to Elevated R-Loops Induced by Stalled RNA Polymerase II during Transcription Elongation
- Congenital Hypothyroidism with Neuronal Migration Anomaly
- Convergent dwarfism consequences of minipigs under independent artificial selections
- Craniofacial studies in chicken embryos confirm the pathogenicity of human FZD2 variants associated with Robinow syndrome
- Debilitating Musculoskeletal Disease in Two Free-Ranging Juvenile American Black Bears (<em>Ursus americanus</em>)
- European Achondroplasia Forum Practical Considerations for Following Adults with Achondroplasia
- Evidence for and against manganese deficiency as causal for congenital joint deficiency disease or death in fetal and neonatal cattle
- Evolving growth hormone deficiency: proof of concept
- Expression of VP2 protein of novel goose parvovirus in baculovirus and evaluation of its immune effect
- Fetal phenotype and diagnosis of autosomal dominant Robinow syndrome due to novel DVL1 variant
- First Report of <em>Globisporangium ultimum</em> Causing Pythium Damping-off and Root Rot on Pepper in Guizhou, China
- Follow-up of a Term Infant with Congenital Hypothyroidism
- Frequency of Mutations in the <em>TPO</em> Gene in Patients with Congenital Hypothyroidism Due to Dyshormonogenesis in Chile
- Functional studies in yeast confirm the pathogenicity of a new GINS3 Meier-Gorlin syndrome variant
- Functional variants in a TTTG microsatellite on 15q26.1 cause familial nonautoimmune thyroid abnormalities
- Genetic Analysis and Fine Mapping of a New Rice Mutant, Leaf Tip Senescence 2
- Genome cloning and genetic evolution analysis of eight duck-sourced novel goose parvovirus strains in China in 2023
- Genomic insights into inherited bone marrow failure syndromes in a Korean population
- Genomic Reconstruction of the Successful Establishment of a Feralized Bovine Population on the Subantarctic Island of Amsterdam
- Genomic variation across distribution of Micro-Tom, a model cultivar of tomato (Solanum lycopersicum)
- HiPSC-derived 3D neural models reveal neurodevelopmental pathomechanisms of the Cockayne Syndrome B
- Identification of southern Taiwan genetic variants in thyroid dyshormonogenesis through whole-exome sequencing
- Incidence and associated risk factors of congenital hypothyroidism among newborns in Hainan, China: a retrospective study
- Insights from European Reference Network for rare neurological disorders study surveys on diagnosis, treatment, and management of NKX2-1-related disorders
- Insular dwarfism in horses from the Aegean Sea and the Japanese archipelago
- Isolation and genetic characterization of waterfowl parvovirus in ducks in Northern Vietnam
- Laparoscopic herniorrhaphy for inguinal hernia with thanatophoric dysplasia: A case report
- Late-onset dyshormonogenic goitrous hypothyroidism due to a homozygous mutation of the SLC26A7 gene: a case report
- Management of complete intra-articular distal femur and patellar fractures in an achondroplastic young adult; small is challenging' revisited: a case-report
- Meier-Gorlin syndrome type 7: a rare cause of primordial dwarfism: two new cases and literature review
- Membralin is required for maize development and defines a branch of the endoplasmic reticulum-associated degradation pathway in plants
- Molecular and Clinical Features of Congenital Hypothyroidism Due to Multiple <em>DUOX2</em> Variants
- Molecular Characterization of the Chicken Parvovirus Based on VP1 Gene Circulating in Brazilian Chicken Flocks
- Mutations in the dwarf3 gene confer height stability in sorghum
- Mutations induced in some Egyptian cowpea varieties with yield characteristics and high nutritional value using gamma rays and evaluation by microsatellite markers
- Natural history study of Pseudoachondroplasia: A focus on oral health
- Neglected Bilateral Clubfoot Clubhand Deformity
- Novel biallelic PISD missense variants cause spondyloepimetaphyseal dysplasia with disproportionate short stature and fragmented mitochondrial morphology
- Novel goose parvovirus VP1 targets IRF7 protein to block the type I interferon upstream signaling pathway
- Overexpression of <em>Calcineurin</em> B-like Interacting Protein Kinase 31 Promotes Lodging and Sheath Blight Resistance in Rice
- Paediatric thyroid disease
- Pathogenic sequence variant and microdeletion affecting HMGA2 in Silver-Russell syndrome: case reports and literature review
- Pathogenicity of duck circovirus and novel goose parvovirus co-infection in SPF ducks
- Patients with Thyroid Dyshormonogenesis and <em>DUOX2</em> Variants: Molecular and Clinical Description and Genotype-Phenotype Correlation
- Perinatal imaging findings of a fetus with Pfeiffer syndrome and a heterozygous c.1019A>G, p.Tyr340Cys (Y340C) mutation in FGFR2 presenting a cloverleaf skull, craniosynostosis and short limbs on prenatal ultrasound mimicking thanatophoric dysplasi
- Prenatal and neonatal phenotype of Larsen of La Réunion Island syndrome (B4GALT7- linkeropathy)
- Prenatal and neonatal phenotype of Larsen of La Réunion Island syndrome (B4GALT7-linkeropathy)
- Pseudoachondroplasia: Similar radiographic findings to mucopolysaccharidosis
- Reduced levels of MRE11 cause disease phenotypes distinct from ataxia telangiectasia-like disorder
- Response to Recombinant Human Growth Hormone (rhGH) Therapy in Children with Growth Hormone Deficiency
- Reverse repurposing: Potential utility of cancer drugs in nonmalignant illnesses
- Review of patients with achondroplasia: a single-center's experience with follow-up and associated morbidities
- Robust growth hormone responses to GH-releasing peptide 2 in adolescents
- Role of ghrelin in promoting catch-up growth and maintaining metabolic homeostasis in small-for-gestational-age infants
- Short beak and dwarfism syndrome among Pekin ducks: First detection, full genome sequencing, and immunohistochemical signals of novel goose parvovirus in tongue tissue
- Signatures of Adaptation and Purifying Selection in Highland Populations of Dasiphora fruticosa
- Silver-Russell syndrome-like features in a child with recombinant chromosome 11 derived from maternal pericentric inversion
- Skin assessment in congenital untreated isolated GH deficiency
- SLC30A9: an evolutionarily conserved mitochondrial zinc transporter essential for mammalian early embryonic development
- Sororin is an evolutionary conserved antagonist of WAPL
- Systematic review of thyroid function in NKX2-1-related disorders: Screening and diagnosis
- The apple MdGA2ox7 modulates the balance between growth and stress tolerance in an anthocyanin-dependent manner
- The ARK2N-CK2 complex initiates transcription-coupled repair through enhancing the interaction of CSB with lesion-stalled RNAPII
- The evidence for achondroplasia in 1st century AD Italy
- The longitudinal growth trajectory of children with congenital hypothyroidism during the first 3 years of life
- The Principle of Cortical Development and Evolution
- The tale of the rattle: Using rattle size to understand growth and sexual dimorphism in an insular population of rattlesnakes (<em>Crotalus oreganus caliginis</em>)
- Therapeutic efficacy of recombinant human growth hormone in children with different etiologies of dwarfism from a pharmacoeconomic point of view
- Thyroid dysgenesis associated with dwarfism, osteoporosis and spontaneous fractures in a goat
- Twin Embryos in <em>Arabidopsis thaliana KATANIN 1</em> Mutants
- Unveiling the Role of SlRNC1 in Chloroplast Development and Global Gene Regulation in Tomato Plants
- Variable Syndromic Immunodeficiency in Patients with Biallelic PRIM1 Mutations
- Variants in both the N- or C-terminal domains of IHH lead to defective secretion causing short stature and skeletal defects
- Widespread horizontal gene transfer between plants and bacteria
- Xyloglucan side chains enable polysaccharide secretion to the plant cell wall