Showing 41 - 60 results of 232 for search '"Case Reports in Genetics"', query time: 2.19s Refine Results
  1. 41
    What Drives Embryo Development? Chromosomal Normality or Mitochondria?
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  2. 42
    Case of 7p22.1 Microduplication Detected by Whole Genome Microarray (REVEAL) in Workup of Child Diagnosed with Autism
    by Veronica Goitia, Marcial Oquendo, Robert Stratton
    Published 2015-01-01
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  3. 43
    Bartsocas-Papas Syndrome: Unusual Findings in the First Reported Egyptian Family
    by E. M. Abdalla, H. Morsy
    Published 2011-01-01
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  4. 44
    Identifying a Novel DPYD Polymorphism Associated with Severe Toxicity to 5-FU Chemotherapy in a Saudi Patient
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  5. 45
    First Birth after Sperm Selection through Discontinuous Gradient Centrifugation and Artificial Insemination from a Chromosomal Translocation Carrier
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  6. 46
    Early Intervention Combined with Targeted Treatment Promotes Cognitive and Behavioral Improvements in Young Children with Fragile X Syndrome
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  7. 47
    Birt-Hogg-Dubé Syndrome Caused by a Novel Mutation in the FLCL Gene
    by Charles Volk, Gregory Matwiyoff
    Published 2018-01-01
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  8. 48
    Prenatal Diagnosis of Bilateral Ectrodactyly and Radial Agenesis Associated with Trisomy 10 Mosaicism
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  9. 49
    An Interstitial Deletion at 10q26.2q26.3
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  10. 50
    Chromosomal Abnormalities in Syndromic Orofacial Clefts: Report of Three Children
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  11. 51
    11p15.4 Microdeletion Associates with Hemihypertrophy
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  12. 52
    Familial Case of Pelizaeus-Merzbacher Disorder Detected by Oligoarray Comparative Genomic Hybridization: Genotype-to-Phenotype Diagnosis
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  13. 53
    Novel SUFU Frameshift Variant Leading to Meningioma in Three Generations in a Family with Gorlin Syndrome
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  14. 54
    Angelman-Like Syndrome: A Genetic Approach to Diagnosis with Illustrative Cases
    by Ho-Ming Luk
    Published 2016-01-01
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  15. 55
    False Negative Cell-Free DNA Screening Result in a Newborn with Trisomy 13
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  16. 56
    Duplication of 17q11.2 and Features of Albright Hereditary Osteodystrophy Secondary to Methylation Defects within the GNAS Cluster: Coincidence or Causal?
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  17. 57
    Alsin Related Disorders: Literature Review and Case Study with Novel Mutations
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  18. 58
    A Turner Syndrome Patient Carrying a Mosaic Distal X Chromosome Marker
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  19. 59
    SOX5-Null Heterozygous Mutation in a Family with Adult-Onset Hyperkinesia and Behavioral Abnormalities
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  20. 60
    Congenital Arthrogryposis: An Extension of the 15q11.2 BP1-BP2 Microdeletion Syndrome?
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