231 results on '"Joosten, Marieke"'
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52. Placental studies elucidate discrepancies between NIPT showing a structural chromosome aberration and a differently abnormal fetal karyotype
53. Deficiency of the human cysteine protease inhibitor cystatin M/E causes hypotrichosis and dry skin
54. Deficiency of the human cysteine protease inhibitor cystatin M/E causes hypotrichosis and dry skin
55. The potential diagnostic yield of whole exome sequencing in pregnancies complicated by fetal ultrasound anomalies.
56. Genomic SNP array as a gold standard for prenatal diagnosis of foetal ultrasound abnormalities
57. Genetische predispositie voor myeloïde maligniteiten: diagnostiek en beleid = Genetic predisposition for myeloid malignancies: diagnosis and management
58. Placental studies elucidate discrepancies between NIPT showing a structural chromosome aberration and a differently abnormal fetal karyotype
59. Mutations in PIGB Cause an Inherited GPI Biosynthesis Defect with an Axonal Neuropathy and Metabolic Abnormality in Severe Cases
60. Prenatal ultrasound findings of rasopathies in a cohort of 424 fetuses: update on genetic testing in the NGS era
61. Prenatal diagnosis of cervical ribs by three-dimensional ultrasound in a foetus with a herniated Dandy-Walker cyst
62. Porosities and voids in Class I restorations placed by six operators using a packable or syringable composite
63. Unexpected finding of uniparental disomy mosaicism in term placentas: Is it a common feature in trisomic placentas?
64. Pitfalls in the diagnosis of hemophilia severity: What to do?
65. Prenatal diagnosis of susceptibility loci for neurodevelopmental disorders - genetic counseling and pregnancy outcome in 57 cases
66. Phenotyping of Evi1, Evi11/Cb2, and Evi12 Transformed Leukemias Isolated from a Novel Panel of Cas-Br-M Murine Leukemia Virus-Infected Mice
67. Unexpected finding of uniparental disomy mosaicism in term placentas: Is it a common feature in trisomic placentas?
68. Choosing between Higher and Lower Resolution Microarrays: do Pregnant Women Have Sufficient Knowledge to Make Informed Choices Consistent with their Attitude?
69. The influence of SNP-based chromosomal microarray and NIPT on the diagnostic yield in 10,000 fetuses with and without fetal ultrasound anomalies
70. Prenatal diagnosis of susceptibility loci for neurodevelopmental disorders - genetic counseling and pregnancy outcome in 57 cases
71. Whole-genome array as a first-line cytogenetic test in prenatal diagnosis
72. The Psychological Impact of Prenatal Diagnosis and Disclosure of Susceptibility Loci:First Impressions of Parents' Experiences
73. False Negative NIPT Results: Risk Figures for Chromosomes 13, 18 and 21 Based on Chorionic Villi Results in 5967 Cases and Literature Review
74. Enlarged NT (>= 3.5 mm) in the first trimester - not all chromosome aberrations can be detected by NIPT
75. Pitfalls in the diagnosis of hemophilia severity: What to do?
76. Enlarged NT (≥3.5 mm) in the first trimester – not all chromosome aberrations can be detected by NIPT
77. Clinical experience of unexpected findings in prenatal array testing
78. Is prenatal cytogenetic diagnosis with genomic array indicated in pregnancies at risk for a molecular or metabolic disorder?
79. False Negative NIPT Results: Risk Figures for Chromosomes 13, 18 and 21 Based on Chorionic Villi Results in 5967 Cases and Literature Review
80. Value-Based Health Care (VBHC) in Sickle Cell Disease: A Dutch Initiative
81. Prenatal SNP array testing in 1000 fetuses with ultrasound anomalies: causative, unexpected and susceptibility CNVs
82. The Psychological Challenges of Replacing Conventional Karyotyping with Genomic SNP Array Analysis in Prenatal Testing
83. Open-Access Flexible Sigmoidoscopy Frequently Leads to Additional Colonoscopy in Symptomatic Patients over 50 years
84. Novel transforming genes in murine myeloid leukemia
85. Leukemic predisposition of Sca1/Cb2 transgenic mice: Cooperation between Cb2 and Evi1
86. Genomic SNP array as a gold standard for prenatal diagnosis of foetal ultrasound abnormalities
87. Erythroid defects and increased retrovirally-induced tumor formation in Evi 1 transgenic mice
88. Retroviral insertions in Evi12, a novel common virus integration site upstream of Tra1/Grp94, frequently coincide with insertions in the gene encoding the peripheral cannabinoid receptor Cnr2
89. Types of array findings detectable in cytogenetic diagnosis: a proposal for a generic classification
90. Full monosomy 21, prenatally diagnosed by fluorescent in situ hybridization
91. Application of SNP array for rapid prenatal diagnosis: implementation, genetic counselling and diagnostic flow
92. Benefits and Burdens of Using a SNP Array in Pregnancies at Increased Risk for the Common Aneuploidies.
93. Translational Control of Putative Protooncogene Nm23-M2 by Cytokines via Phosphoinositide 3-Kinase Signaling
94. A rapid RT-PCR based method to isolate complementary DNA fragments flanking retrovirus integration sites
95. Leukemic predisposition of pSca-1/Cb2 transgenic mice
96. Prenatal SNP array testing in 1000 fetuses with ultrasound anomalies: causative, unexpected and susceptibility CNVs
97. Pitfalls in the diagnosis of hemophilia severity: What to do?
98. Retroviral Insertions inEvi12, a Novel Common Virus Integration Site Upstream ofTra1/Grp94, Frequently Coincide with Insertions in the Gene Encoding the Peripheral Cannabinoid ReceptorCnr2
99. Discovering a new part of the phenotypic spectrum of Coffin-Siris syndrome in a fetal cohort
100. Types of array findings detectable in cytogenetic diagnosis: a proposal for a generic classification.
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