• A case of partial 1p36.1 deletion and partial trisomy 6p diagnosed by karyotype
• A homozygous CEP57 c.915_925dupCAATGTTCAGC mutation in a patient with mosaic variegated aneuploidy syndrome with rhizomelic shortening in the upper and lower limbs and a narrow thorax
• A new lysosomal storage disorder resembling Morquio syndrome in sibs
• A newly recognized autosomal recessive syndrome with short stature and oculo-skeletal involvement
• A newly recognized skeletal dysplasia with rhizomelic limbs and retinitis pigmentosa
• A novel dominant COL11A1 mutation resulting in a severe skeletal dysplasia
• A Novel Oculo-Skeletal syndrome with intellectual disability caused by a particular MAB21L2 mutation
• A peroxisomal disorder of severe intellectual disability, epilepsy, and cataracts due to fatty acyl-CoA reductase 1 deficiency
• Achondroplasia: Really rhizomelic?
• Adult presentation of X-linked Conradi-Hünermann-Happle syndrome
• Alkylglycerone phosphate synthase (AGPS) deficient mice: models for rhizomelic chondrodysplasia punctate type 3 (RCDP3) malformation syndrome
• Application of machine learning algorithms for the differential diagnosis of peroxisomal disorders
• ARCN1 Mutations Cause a Recognizable Craniofacial Syndrome Due to COPI-Mediated Transport Defects
• Asphyxiating thoracic dysplasia (Jeune syndrome): about two cases
• Asphyxiating thoracic dystrophy with facial dysmorphism
• Assessment of body fat mass, anthropometric measurement and cardiometabolic risk in children and adolescents with achondroplasia and hypochondroplasia
• CEP57 mutation in a girl with mosaic variegated aneuploidy syndrome
• Characterization of a novel deep-intronic variant in <em>DYNC2H1</em> identified by whole-exome sequencing in a patient with a lethal form of a short-rib thoracic dysplasia type III
• Child neurology: Zellweger syndrome
• Chondrodysplasia punctata and neonatal lupus in an infant with positive anti-RNP and negative anti-Ro/SSA and -La/SSB antibodies, a case report
• Chondrodysplasia punctata: a clinical diagnostic and radiological review
• Clinical and Biochemical Pitfalls in the Diagnosis of Peroxisomal Disorders
• Clinical and molecular genetic characterization of a male patient with Sensenbrenner syndrome (cranioectodermal dysplasia) and biallelic WDR35 mutations
• Clinical diagnosis of metabolic disorders using untargeted metabolomic profiling and disease-specific networks learned from profiling data
• COL11A2 mutation associated with autosomal recessive Weissenbacher-Zweymuller syndrome: molecular and clinical overlap with otospondylomegaepiphyseal dysplasia (OSMED)
• Compound heterozygous alterations in intraflagellar transport protein <em>CLUAP1</em> in a child with a novel Joubert and oral-facial-digital overlap syndrome
• Conradi-Hünermann-Happle syndrome: report of a novel heterozygous mutation on the emopamil-binding protein gene, c.333delC
• Contribution of 3D ultrasound and fetal face studies to the prenatal diagnosis of Pallister-Killian syndrome
• Craniofacial anomalies, humero-radial synostosis, rhizomelic limb shortness: previously unrecognized autosomal recessive syndrome
• Craniofacial growth and function in achondroplasia: a multimodal 3D study on 15 patients
• Defective lipid remodeling of GPI anchors in peroxisomal disorders, Zellweger syndrome, and rhizomelic chondrodysplasia punctata
• Disproportionate short stature with multisystem involvement - Ellis-van Creveld syndrome
• Drosophila Courtship Conditioning As a Measure of Learning and Memory
• Ductus Venosus Agenesis as a Marker of Pallister-Killian Syndrome
• Duplication of PTHLH causes osteochondroplasia with a combined brachydactyly type E/A1 phenotype with disturbed bone maturation and rhizomelia
• Dyggve-Melchior-Clausen syndrome: presentation of a case with a mutation of possible Spanish origin
• Dysmorphic choroid plexuses and hydrocephalus associated with increased nuchal translucency: early ultrasound markers of de novo thanatophoric dysplasia type II with cloverleaf skull (Kleeblattschaedel)
• Ellis van Creveld. Case report
• Ellis-van Creveld syndrome in a fetus with rhizomelia and polydactyly. Report of a case diagnosed by genetic analysis, and correlation with pathological andradiologic findings
• Extending the spectrum of Ellis van Creveld syndrome: a large family with a mild mutation in the EVC gene
• First trimester diagnosis of Pallister-Killian syndrome in a fetus with suggestive abnormalities
• First trimester increased nuchal translucency associated with fetal achondroplasia
• Functions of plasmalogen lipids in health and disease
• Genetic heterogeneity in Japanese patients with peroxisome biogenesis disorders and evidence for a founder haplotype for the most common mutation in PEX10 gene
• Genetic heterogeneity of peroxisome biogenesis disorders among Japanese patients: evidence for a founder haplotype for the most common PEX10 gene mutation
• Genetics and molecular basis of human peroxisome biogenesis disorders
• Genome sequencing identifies a rare case of moderate Zellweger spectrum disorder caused by a <em>PEX3</em> defect: Case report and literature review
• How to Integrate Cell-Free DNA Screening With Sonographic Markers for Aneuploidy: An Update
• Human peroxisomal disorders
• Hyperpipecolic acidaemia: a diagnostic tool for peroxisomal disorders
• Hypertrophic cardiomyopathy with Jeune syndrome: The first reported case
• Imaging of Skeletal Disorders Caused by Fibroblast Growth Factor Receptor Gene Mutations
• Intestinal malrotation in a female newborn affected by Osteopathia Striata with Cranial Sclerosis due to a de novo heterozygous nonsense mutation of the AMER1 gene
• Intrafamilial phenotypic variability in a Polish family with Sensenbrenner syndrome and biallelic WDR35 mutations
• KIAA0753-related skeletal ciliopathy: a ninth case, extending the phenotype and reporting a novel variant
• Mutations in the FGFR2 gene in Mexican patients with Apert syndrome
• Mutations that cause osteoglophonic dysplasia define novel roles for FGFR1 in bone elongation
• NAA10 variant in 38-week-gestation male patient: a case study
• New lethal skeletal dysplasia with Dandy-Walker malformation, congenital heart defects, abnormal thumbs, hypoplastic genitalia, and distinctive facies
• Nonsense mutations in FZD2 cause autosomal-dominant omodysplasia: Robinow syndrome-like phenotypes
• Novel de novo <em>ARCN1</em> intronic variant causes rhizomelic short stature with microretrognathia and developmental delay
• Novel form of rhizomelic skeletal dysplasia associated with a homozygous variant in <em>GNPNAT1</em>
• Oculomotor muscles involvement revealing dermatomyositis in a patient with rheumatoid arthritis
• Overlapping and Distinct Features of Cardiac Pathology in Inherited Human and Murine Ether Lipid Deficiency
• Pallister-Killian syndrome: Cytogenetics and molecular investigations of mosaic tetrasomy 12p in prenatal chorionic villus and in amniocytes. Strategy of prenatal diagnosis
• Patterson-Lowry rhizomelic dysplasia: report of two new patients
• Peroxisomal disorders
• Peroxisomal disorders I: biochemistry and genetics of peroxisome biogenesis disorders
• Peroxisomal leukoencephalopathy
• Peroxisome biogenesis disorders
• Peroxisome biogenesis disorders: Biological, clinical and pathophysiological perspectives
• Pharmacovigilance signals from active surveillance of mRNA platform vaccines (tozinameran and elasomeran)
• Phenotypic variability (heterogeneity) of peroxisomal disorders
• Phytol in a pharma-medico-stance
• Plasmalogens and fatty alcohols in rhizomelic chondrodysplasia punctata and Sjögren-Larsson syndrome
• Prenatal diagnosis of Pallister-Killian syndrome using cord blood samples
• Prenatal profile of Pallister-Killian syndrome: Retrospective analysis of 114 pregnancies, literature review and approach to prenatal diagnosis
• Prenatally diagnosed case of Pallister‒Killian syndrome
• Radiographic features of the skeleton in disorders of post-squalene cholesterol biosynthesis
• Raine syndrome: Prenatal diagnosis based on recognizable fetal facial features and characteristic intracranial calcification
• Recurrent non-immune hydrops fetalis with gracile bones and dysmorphic features in siblings
• Refsum Disease
• Rhizomelic chondrodysplasia punctata - case report
• Rhizomelic syndrome, Urbach type
• SAMS, a syndrome of short stature, auditory-canal atresia, mandibular hypoplasia, and skeletal abnormalities is a unique neurocristopathy caused by mutations in Goosecoid
• Sensenbrenner syndrome: a new member of the hepatorenal fibrocystic family
• Severe rhizomelic shortening in a child with a complex duplication/deletion rearrangement of chromosome X
• Skeletal dysplasias: 38 prenatal cases
• Spectrum of severe skeletal dysplasias in North India
• Targeted carrier screening for four recessive disorders: high detection rate within a founder population
• Targeted prenatal diagnosis of Pallister-Killian syndrome
• Thanatophoric dysplasia type I associated with increased nuchal translucency in the first trimester: Early prenatal diagnosis using combined ultrasonography and molecular biology
• The ether lipid-deficient mouse: tracking down plasmalogen functions
• The ocular manifestations of Weissenbacher-Zweymuller syndrome
• Type 1 diabetes in a patient with Ellis-van Creveld syndrome
• Ultrasonographic soft markers of aneuploidy in second trimester: are we lost?
• Use of three-dimensional ultrasound imaging in the diagnosis of prenatal-onset skeletal dysplasias
• Very-Long-Chain Fatty Acids Quantification by Gas-Chromatography Mass Spectrometry
• Zellweger Syndrome
• Zellweger syndrome with unusual findings: non-immune hydrops fetalis, dermal erythropoiesis and hypoplastic toe nails