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Screening for Fetal Aneuploidy and Sex Chromosomal Anomalies in a Pregnant Woman With Mosaicism for Turner Syndrome—Applications and Advantages of Cell-Based NIPT.
- Published in:
- 2021
- By:
- Publication type:
- Correction Notice
National data on the early clinical use of non‐invasive prenatal testing in public and private healthcare in Denmark 2013–2017.
- Published in:
- Acta Obstetricia et Gynecologica Scandinavica, 2021, v. 100, n. 5, p. 884, doi. 10.1111/aogs.14052
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- Publication type:
- Article
Total Anomalous Pulmonary Venous Connection in Mother and Son with a Central 22q11.2 Microdeletion.
- Published in:
- Case Reports in Genetics, 2021, p. 1, doi. 10.1155/2021/5539855
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- Publication type:
- Article
Uptake of cobalamin and markers of cobalamin status: a longitudinal study of healthy pregnant women.
- Published in:
- Clinical Chemistry & Laboratory Medicine, 2011, v. 49, n. 11, p. 1877, doi. 10.1515/CCLM.2011.682
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- Publication type:
- Article
High concentrations of haptocorrin interfere with routine measurement of cobalamins in human serum and milk. A problem and its solution.
- Published in:
- Clinical Chemistry & Laboratory Medicine, 2009, v. 47, n. 2, p. 182, doi. 10.1515/CCLM.2009.047
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- Publication type:
- Article
Reclassification of an FBN1 variant emphasizes the importance of segregation analysis, information sharing, and multidisciplinary teamwork in understanding genetic variants in health and disease.
- Published in:
- American Journal of Medical Genetics. Part A, 2024, v. 194, n. 11, p. 1, doi. 10.1002/ajmg.a.63795
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- Publication type:
- Article
Segmental overgrowth syndrome due to an activating PIK3CA mutation identified in affected muscle tissue by exome sequencing.
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- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 5, p. 1318, doi. 10.1002/ajmg.a.36454
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- Publication type:
- Article
Maximal Load of the Vitamin B12 Transport System: A Study on Mice Treated for Four Weeks with High-Dose Vitamin B12 or Cobinamide.
- Published in:
- PLoS ONE, 2012, v. 7, n. 10, p. 1, doi. 10.1371/journal.pone.0046657
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- Publication type:
- Article
Mouse Transcobalamin Has Features Resembling both Human Transcobalamin and Haptocorrin.
- Published in:
- PLoS ONE, 2011, v. 6, n. 5, p. 1, doi. 10.1371/journal.pone.0020638
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- Publication type:
- Article
Effect of the vitamin B12-binding protein haptocorrin present in human milk on a panel of commensal and pathogenic bacteria.
- Published in:
- BMC Research Notes, 2011, v. 4, n. 1, p. 208, doi. 10.1186/1756-0500-4-208
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- Publication type:
- Article
Association of Cognitive Impairment with Combinations of Vitamin B<sub>12</sub>--Related Parameters.
- Published in:
- Clinical Chemistry, 2011, v. 57, n. 10, p. 1436, doi. 10.1373/clinchem.2011.165944
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- Publication type:
- Article
Family History is Important to Identify Patients with Monogenic Causes of Adult-Onset Chronic Kidney Disease.
- Published in:
- Nephron, 2022, v. 146, n. 1, p. 49, doi. 10.1159/000518175
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- Publication type:
- Article
Functional megalin is expressed in renal cysts in a mouse model of adult polycystic kidney disease.
- Published in:
- Clinical Kidney Journal, 2021, v. 14, n. 11, p. 2420, doi. 10.1093/ckj/sfab088
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- Publication type:
- Article
PAX2 variant associated with bilateral kidney agenesis and broad intrafamilial disease variability.
- Published in:
- Clinical Kidney Journal, 2021, v. 14, n. 2, p. 704, doi. 10.1093/ckj/sfaa013
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- Publication type:
- Article
A Gene Implicated in Activation of Retinoic Acid Receptor Targets Is a Novel Renal Agenesis Gene in Humans.
- Published in:
- Genetics, 2017, v. 207, n. 1, p. 215, doi. 10.1534/genetics.117.1125
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- Publication type:
- Article
Cell-Based NIPT Detects 47,XXY Genotype in a Twin Pregnancy.
- Published in:
- Frontiers in Genetics, 2022, v. 13, p. 1, doi. 10.3389/fgene.2022.842092
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- Publication type:
- Article
Nucleocytoplasmic Distribution of the Arabidopsis Chromatin-Associated HMGB2/3 and HMGB4 Proteins.
- Published in:
- Plant Physiology, 2010, v. 154, n. 4, p. 1831, doi. 10.1104/pp.110.163055
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- Publication type:
- Article
Mosaicism for copy number variations in the placenta is even more difficult to interpret than mosaicism for whole chromosome aneuploidy.
- Published in:
- Prenatal Diagnosis, 2021, v. 41, n. 6, p. 668, doi. 10.1002/pd.5938
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- Publication type:
- Article
Mosaicism for copy number variations in the placenta is even more difficult to interpret than mosaicism for whole chromosome aneuploidy.
- Published in:
- 2021
- By:
- Publication type:
- journal article
Cell‐based non‐invasive prenatal diagnosis in a pregnancy at risk of cystic fibrosis.
- Published in:
- Prenatal Diagnosis, 2021, v. 41, n. 2, p. 234, doi. 10.1002/pd.5861
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- Publication type:
- Article