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UnknownThe Estimated Prevalence of N-Linked Congenital Disorders of Glycosylation Across Various Populations Based on Allele Frequencies in General Population Databases.
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S-EPMC8383291 | biostudies-literature
UnknownA New Case of a Rare Combination of Temple Syndrome and Mosaic Trisomy 14 and a Literature Review.
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S-EPMC6117659 | biostudies-literature
UnknownFamilial 1.3-Mb 11p15.5p15.4 Duplication in Three Generations Causing Silver-Russell and Beckwith-Wiedemann Syndromes.
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S-EPMC4698645 | biostudies-literature
UnknownThe evaluation of phenylalanine levels in Estonian phenylketonuria patients during eight years by electronic laboratory records.
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S-EPMC6434493 | biostudies-literature
UnknownHigh Prevalence of Collagenopathies in Preterm- and Term-Born Children With Periventricular Venous Hemorrhagic Infarction.
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S-EPMC10467006 | biostudies-literature
UnknownUncovering somatic mosaic variants of PIK3CA-related overgrowth disorders - three cases with different clinical presentations.
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S-EPMC11769973 | biostudies-literature
UnknownThe prevalence of inherited metabolic disorders in Estonian population over 30 years: A significant increase during study period.
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S-EPMC9626666 | biostudies-literature
UnknownA two-year prospective study assessing the performance of fetal chromosomal microarray analysis and next-generation sequencing in high-risk pregnancies.
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S-EPMC8580097 | biostudies-literature
UnknownPrenatal diagnosis of a 46,XY karyotype female fetus with an SRY-associated gonadal dysgenesis, conceived through an intracytoplasmic sperm injection: a case report.
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S-EPMC8818175 | biostudies-literature
UnknownAXIN2-related oligodontia-colorectal cancer syndrome with cleft palate as a possible new feature.
Not available
S-EPMC10265056 | biostudies-literature
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