about
Mutations in the pre-replication complex cause Meier-Gorlin syndromeA unique set of centrosome proteins requires pericentrin for spindle-pole localization and spindle orientationAssociation of TALS developmental disorder with defect in minor splicing component U4atac snRNAMicrocephalic Osteodysplastic Primordial Dwarfism, Type II: a Clinical ReviewCaGE: cardiac gene expression knowledgebase.Extreme growth failure is a common presentation of ligase IV deficiency.Maternal mixed connective tissue disease and offspring with chondrodysplasia punctata.Genetic defects in human pericentrin are associated with severe insulin resistance and diabetes.Mutations in genes encoding condensin complex proteins cause microcephaly through decatenation failure at mitosis.Impact of enzyme replacement therapy and hematopoietic stem cell transplantation in patients with Morquio A syndrome.Cartilage hair hypoplasia: characteristics and orthopaedic manifestationsMeier-Gorlin syndrome genotype-phenotype studies: 35 individuals with pre-replication complex gene mutations and 10 without molecular diagnosisTRAIP promotes DNA damage response during genome replication and is mutated in primordial dwarfism.Non-invasive pulmonary function test on Morquio patientsObstructive airway in Morquio A syndrome, the past, the present and the future.Enzyme replacement therapy for treating mucopolysaccharidosis type IVA (Morquio A syndrome): effect and limitations.Cesarean delivery is not associated with decreased at-birth fracture rates in osteogenesis imperfectaThe lower extremity in Morquio syndrome.Flexion-extension cervical spine MRI in children with skeletal dysplasia: is it safe and effective?Cervicothoracic myelopathy in children with Morquio syndrome A: a report of 4 cases.Re-alignment and intramedullary rodding of the humerus and forearm in children with osteogenesis imperfecta: revision rate and effect on fracture rate.Arthroscopic knee anatomy in young achondroplasia patientsArthroscopic Treatment of Discoid Lateral Meniscus Tears in Children With Achondroplasia.Metatropic dysplasia-a skeletal dysplasia with challenging airway and other anesthetic concerns.Valgus Hip Osteotomy in Children With Spondyloepiphyseal Dysplasia Congenita: Midterm Results.A cross-sectional multicenter study of osteogenesis imperfecta in North America - results from the linked clinical research centers.Mutations in DONSON disrupt replication fork stability and cause microcephalic dwarfismSurgical outcomes of Majewski osteodysplastic primordial dwarfism Type II with intracranial vascular anomalies.Hip pathology in Majewski osteodysplastic primordial dwarfism type II.Mutations in ORC1, encoding the largest subunit of the origin recognition complex, cause microcephalic primordial dwarfism resembling Meier-Gorlin syndrome.Jaffe-Campanacci syndrome, revisited: detailed clinical and molecular analyses determine whether patients have neurofibromatosis type 1, coincidental manifestations, or a distinct disorder.The effect of intravenous pamidronate on bone mineral density, bone histomorphometry, and parameters of bone turnover in adults with type IA osteogenesis imperfecta.Developing computational resources in cardiac gene expression.Surgical treatment of scoliosis in osteogenesis imperfecta with cement-augmented pedicle screw instrumentation.Enzyme-replacement therapy in life-threatening hypophosphatasia.A mutation in TRPV4 results in altered chondrocyte calcium signaling in severe metatropic dysplasiaAneurysmal bone cysts and pathologic fracture associated with supernumerary ring chromosome 6 in two unrelated patients.The expanding phenotype of RNU4ATAC pathogenic variants to Lowry Wood syndrome.Congenital heart defects common in rhizomelic chondrodysplasia punctata.Best practices in the evaluation and treatment of foramen magnum stenosis in achondroplasia during infancy.
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description
hulumtues
@sq
researcher
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wetenschapper
@nl
հետազոտող
@hy
name
Michael B Bober
@ast
Michael B Bober
@en
Michael B Bober
@es
Michael B Bober
@nl
Michael B Bober
@sl
type
label
Michael B Bober
@ast
Michael B Bober
@en
Michael B Bober
@es
Michael B Bober
@nl
Michael B Bober
@sl
prefLabel
Michael B Bober
@ast
Michael B Bober
@en
Michael B Bober
@es
Michael B Bober
@nl
Michael B Bober
@sl
P106
P21
P31
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0000-0002-6178-1264