411 results on '"MAHONEY, MAURICE"'
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2. Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype–phenotype correlation
3. Correction: Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype-phenotype correlation.
4. Prenatal Diagnosis of the Hemoglobinopathies
5. Prenatal Diagnosis by Fetoscopy and Fetal Blood Sampling Including Initial Attempts to Diagnose Duchenne Muscular Dystrophy
6. Noninvasive Prenatal Testing and Detection of Maternal Cancer
7. Methylmalonicacidemia: Biochemical Heterogeneity in Defects of 5 ′ -deoxyadenosylcobalamin Synthesis
8. Genetic Complementation in Heterokaryons of Human Fibroblasts Defective in Cobalamin Metabolism
9. Report of the Chronicler of the Columbia Historical Society of Washington D.C., 1966-1968
10. Congenital extremity anomalies with a TBX5 pathogenic variant in consecutive IVF assisted pregnancies: a case report of Holt-Oram Syndrome
11. First-trimester screening for trisomies 21 and 18
12. Prenatal Diagnosis: Cases & Clinical Challenges
13. Antibiotic prophylaxis before amniocentesis
14. Genomic characterization of prenatally detected chromosomal structural abnormalities using oligonucleotide array comparative genomic hybridization
15. Clinical and Genomic Characterization of Distal Duplications and Deletions of Chromosome 4q: Study of Two Cases and Review of the Literature
16. The Mid-Trimester Genetic Sonogram
17. Elevated first-trimester nuchal translucency increases the risk of congenital heart defects
18. LabCorp v. Metabolite Laboratories: the Supreme Court listens, but declines to speak.
19. Proteomics: A Novel Methodology to Complement Prenatal Diagnosis of Chromosomal Abnormalities and Inherited Human Diseases
20. Late First-Trimester Placental Disruption and Subsequent Gestational Hypertension/Preeclampsia
21. CONTINGENCY SCREENING: MODELING OF AN ALTERNATE PATHWAY FOR FIRST TRIMESTER DOWN SYNDROME RISK ASSESSMENT: 53
22. Association of extreme first-trimester free human chorionic gonadotropin-beta, pregnancy-associated plasma protein A, and nuchal translucency with intrauterine growth restriction and other adverse pregnancy outcomes
23. Transplantation and Malignancy in a Companion-Host System on the Chorioallantoic Membrane
24. The comprehensive midtrimester test: High-sensitivity down syndrome test
25. Early genetic sonogram for Down syndrome detection
26. Ratio of nuchal thickness to humerus length for Down syndrome detection
27. 0055 THE COMPREHENSIVE MIDTRIMESTER TEST (CMT): HIGHLY SENSITIVE FOR DOWN SYNDROME DETECTION
28. A randomized comparison of transcervical and transabdominal chorionic-villus sampling
29. Combined serum and ultrasound screening for detection of fetal aneuploidy
30. Comparison of urinary hyperglycosylated human chorionic gonadotropin concentration with the serum triple screen for Down syndrome detection in high-risk pregnancies
31. A Retrospective Analysis of 10-Year Data Assessed the Diagnostic Accuracy and Efficacy of Cytogenomic Abnormalities in Current Prenatal and Pediatric Settings
32. An alternative for women initially declining genetic amniocentesis: Individual Down syndrome odds on the basis of maternal age and multiple ultrasonographic markers
33. Subtle ultrasonographic anomalies: Do they improve the Down syndrome detection rate
34. First-trimester growth restriction and fetal aneuploidy: The effect of type of aneuploidy and gestational age
35. Normal nuchal thickness in the midtrimester indicates reduced risk of Down syndrome in pregnancies with abnormal triple-screen results
36. Congenital extremity anomalies with a TBX5 pathogenic variant in consecutive IVF assisted pregnancies: a case report of Holt-Oram Syndrome.
37. Transabdominal Thin-Gauge Embryofetoscopy: A Technique for Early Prenatal Diagnosis and Its Use in the Diagnosis of a Case of Meckel-Gruber Syndrome
38. Embryoscopic Demonstration of Hemorrhagic Lesions on the Human Embryo After Placental Trauma
39. Fetal humeral length to detect Down syndrome
40. Urine hyperglycosylated hCG plus ultrasound biometry for detection of Down syndrome in the second trimester in a high-risk population
41. Correction: Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype–phenotype correlation
42. Genotype-Phenotype Correlation in NF1: Evidence for a More Severe Phenotype Associated with Missense Mutations Affecting NF1 Codons 844–848
43. Fetal Blood Sampling and Fetoscopy
44. Chorionic Villus Sampling
45. Fetoscopy and Fetal Blood Sampling
46. Familial GPC3 and GPC4-TFDP3 deletions at Xq26 associated with Simpson-Golabi-Behmel syndrome
47. Ultrasonic measurement boom
48. Rapid prenatal and postnatal detection of inborn errors of propionate, methylmalonate, and cobalamin metabolism: A sensitive assay using cultured cells
49. WHEN ARE THIRD TRIMESTER PREGNANCY TERMINATIONS MORALLY JUSTIFIABLE?
50. Chapter 7. Fetoscopy and Fetal Biopsy
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