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「"Sowińska-Seidler A "[Author]」の検索結果

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Novel synonymous and missense variants in FGFR1 causing Hartsfield syndrome.

Functional analysis of novel RUNX2 mutations identified in patients with cleidocranial dysplasia.

Duplication of 10q24 locus: broadening the clinical and radiological spectrum.

Correction to: Novel 1q22-q23.1 duplication in a patient with lambdoid and metopic craniosynostosis, muscular hypotonia, and psychomotor retardation.

Novel 1q22-q23.1 duplication in a patient with lambdoid and metopic craniosynostosis, muscular hypotonia, and psychomotor retardation.

Noncoding copy-number variations are associated with congenital limb malformation.

Clinical expression of Holt-Oram syndrome on the basis of own clinical experience considering prenatal diagnosis.

X-Linked Adrenal Hypoplasia Congenita in a Boy due to a Novel Deletion of the Entire NR0B1 (DAX1) and MAGEB1-4 Genes.

Prenatal diagnosis of Fraser syndrome using routine ultrasound examination, confirmed by exome sequencing - report of a novel homozygous missense FRAS1 mutation.

Identification of a molecular defect in a stillborn fetus with perinatal lethal hypophosphatasia using a disease-associated genome sequencing approach.

Exome sequencing reveals two novel compound heterozygous XYLT1 mutations in a Polish patient with Desbuquois dysplasia type 2 and growth hormone deficiency.

Variable expressivity of the phenotype in two families with brachydactyly type E, craniofacial dysmorphism, short stature and delayed bone age caused by novel heterozygous mutations in the PTHLH gene.

Duplication of PTHLH causes osteochondroplasia with a combined brachydactyly type E/A1 phenotype with disturbed bone maturation and rhizomelia.

Hyperosmia, ectrodactyly, mild intellectual disability, and other defects in a male patient with an X-linked partial microduplication and overexpression of the KAL1 gene.

Deletions of exons with regulatory activity at the DYNC1I1 locus are associated with split-hand/split-foot malformation: array CGH screening of 134 unrelated families.

Heterozygous DLX5 nonsense mutation associated with isolated split-hand/foot malformation with reduced penetrance and variable expressivity in two unrelated families.

Mutational screening of EXT1 and EXT2 genes in Polish patients with hereditary multiple exostoses.

Three novel GJA1 missense substitutions resulting in oculo-dento-digital dysplasia (ODDD) - further extension of the mutational spectrum.

Split-hand/foot malformation - molecular cause and implications in genetic counseling.

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