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Insights into severe 5,10-methylenetetrahydrofolate reductase deficiency: molecular genetic and enzymatic characterization of 76 patientsIsolated 3-methylcrotonyl-CoA carboxylase deficiency: evidence for an allele-specific dominant negative effect and responsiveness to biotin therapyExome sequencing identifies truncating mutations in human SERPINF1 in autosomal-recessive osteogenesis imperfectaMutations in PRDM5 in brittle cornea syndrome identify a pathway regulating extracellular matrix development and maintenanceA cluster of autosomal recessive spondylocostal dysostosis caused by three newly identified DLL3 mutations segregating in a small villageUnderstanding pyrroline-5-carboxylate synthetase deficiency: clinical, molecular, functional, and expression studies, structure-based analysis, and novel therapy with arginineIdentification of a mutation causing deficient BMP1/mTLD proteolytic activity in autosomal recessive osteogenesis imperfecta.Quantification of single nucleotide polymorphisms: a novel method that combines primer extension assay and capillary electrophoresis.Mutations in FKBP14 cause a variant of Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing lossHemizygous deletion of COL3A1, COL5A2, and MSTN causes a complex phenotype with aortic dissection: a lesson for and from true haploinsufficiencyPhenotypic variability of the kyphoscoliotic type of Ehlers-Danlos syndrome (EDS VIA): clinical, molecular and biochemical delineationMolecular Consequences of the SERPINH1/HSP47 Mutation in the Dachshund Natural Model of Osteogenesis Imperfecta.Urinary pyridinoline cross-links as biomarkers of osteogenesis imperfectaBruch's membrane abnormalities in PRDM5-related brittle cornea syndrome.Promotion of vesicular zinc efflux by ZIP13 and its implications for spondylocheiro dysplastic Ehlers-Danlos syndrome.Spondylocheiro dysplastic form of the Ehlers-Danlos syndrome--an autosomal-recessive entity caused by mutations in the zinc transporter gene SLC39A13MBTPS2 mutations cause defective regulated intramembrane proteolysis in X-linked osteogenesis imperfecta.Periodontal Ehlers-Danlos Syndrome Is Caused by Mutations in C1R and C1S, which Encode Subcomponents C1r and C1s of Complement.ZNF469 frequently mutated in the brittle cornea syndrome (BCS) is a single exon gene possibly regulating the expression of several extracellular matrix components.A cohort of 17 patients with kyphoscoliotic Ehlers-Danlos syndrome caused by biallelic mutations in FKBP14: expansion of the clinical and mutational spectrum and description of the natural history.The 2017 international classification of the Ehlers-Danlos syndromes.Obstructive sleep apnoea and quality of life in Ehlers-Danlos syndrome: a parallel cohort study.Suppression of tumorigenicity and anchorage-independent growth of BK virus-transformed mouse cells by human chromosome 11.A new COL3A1 mutation in Ehlers-Danlos syndrome type IV.Genotype-phenotype study in type V osteogenesis imperfecta.Mutation analysis of the PLOD1 gene: an efficient multistep approach to the molecular diagnosis of the kyphoscoliotic type of Ehlers-Danlos syndrome (EDS VIA).Kyphoscoliotic type of Ehlers-Danlos Syndrome (EDS VIA) in six Egyptian patients presenting with a homogeneous clinical phenotype.Gene symbol: COL1A2. Disease: Ehlers-Danlos syndrome type VIIB.Expanding the clinical and mutational spectrum of the Ehlers-Danlos syndrome, dermatosparaxis type.Insight into the Pathology of a COL1A1 Signal Peptide Heterozygous Mutation Leading to Severe Osteogenesis Imperfecta.Apparent autosomal dominant keratoconus in a large Australian pedigree accounted for by digenic inheritance of two novel loci.The phenotype of the musculocontractural type of Ehlers-Danlos syndrome due to CHST14 mutations.The arthrochalasia type of Ehlers-Danlos syndrome (EDS VIIA and VIIB): the diagnostic value of collagen fibril ultrastructure.Mutations in PRDM5 in Brittle Cornea Syndrome Identify a Pathway Regulating Extracellular Matrix Development and Maintenance.Obstructive Sleep Apnoea in Children and Adolescents with Ehlers-Danlos SyndromeSilver staining of synaptonemal complexes in surface-spread spermatocytes of fallow deer (Dama dama L.).Rapid diagnosis of germline p53 mutation using the enzyme mismatch cleavage methodHeteromorphism of human chromosome 18 detected by fluorescent in situ hybridizationHeteromorphic variant 18ph+ analyzed by sequential CBG and fluorescence in situ hybridizationDiagnostic work for research purpose should be acknowledged
P50
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P50
description
hulumtuese
@sq
onderzoeker
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researcher
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հետազոտող
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name
Cecilia Giunta
@en
Cecilia Giunta
@es
Cecilia Giunta
@nl
Cecilia Giunta
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type
label
Cecilia Giunta
@en
Cecilia Giunta
@es
Cecilia Giunta
@nl
Cecilia Giunta
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prefLabel
Cecilia Giunta
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Cecilia Giunta
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Cecilia Giunta
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Cecilia Giunta
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P106
P1153
7005933317
P21
P31
P496
0000-0002-9313-8257