Mostrando 2,621 - 2,640 Resultados de 9,229 Para Buscar '"The Father"', tiempo de consulta: 0.19s Limitar resultados
  1. 2621
    “…The heterozygous MBTPS2 mutation was identified in his mother but not his father. CONCLUSION: This study demonstrated a novel MBTPS2 mutation in a patient with IFAP syndrome and thus expands the known MBPTS2 molecular repertoire.…”
    Enlace del recurso
    Enlace del recurso
    Enlace del recurso
    Online Artículo Texto
  2. 2622
    “…Partial AZFa deletion, involving part of USP9Y gene appears to be benign, as we proved transmission from father to son. According to our results, it is recommended to revise guidelines on markers selected for testing of AZFa region deletion, to be more selective against DDX3Y gene and exclude probably benign microdeletions involving only USP9Y gene.…”
    Enlace del recurso
    Enlace del recurso
    Enlace del recurso
    Online Artículo Texto
  3. 2623
    “…The patient’s spine showed multiple sclerotic changes including sandwich vertebra. His father had the same mutation but his skeletal radiographs were normal. …”
    Enlace del recurso
    Enlace del recurso
    Enlace del recurso
    Online Artículo Texto
  4. 2624
    por Chudnovskaya, Margarita
    Publicado 2019
    “…In this study, I examine differences in childlessness among the highly educated by studying how educational prestige, social class, and income are associated with the likelihood of becoming a father. Higher income and social class background are positively associated with fatherhood, and this association has not changed over time. …”
    Enlace del recurso
    Enlace del recurso
    Enlace del recurso
    Online Artículo Texto
  5. 2625
    “…CASE: We report a patient with infantile-onset Pompe disease with a normal paternal carrier genetic test, born prior to newborn screening for Pompe disease in the state of Michigan. The infant's father was retested once the infant was diagnosed with Pompe disease postnatally and noted to have a mutation conducive to Pompe disease. …”
    Enlace del recurso
    Enlace del recurso
    Enlace del recurso
    Online Artículo Texto
  6. 2626
    “…A novel missense mutation of FH gene (c.1214A>G, p.Leu405Ser) was identified in both patients and their father. This mutation was predicted to be probably pathogenic and deleterious. …”
    Enlace del recurso
    Enlace del recurso
    Enlace del recurso
    Online Artículo Texto
  7. 2627
    “…Whole-exome sequencing indicated that he had novel compound heterozygous mutations (c.998 C > A from his mother and c.1934 C > T from his father) in RIPK1 gene, which were confirmed by Sanger sequencing. …”
    Enlace del recurso
    Enlace del recurso
    Enlace del recurso
    Online Artículo Texto
  8. 2628
    “…In addition, genomic DNA was examined from blood samples of the patient and the patient's father with their consent. A mutation in the non-coding region was detected but any direct causative effect remains elusive. …”
    Enlace del recurso
    Enlace del recurso
    Enlace del recurso
    Online Artículo Texto
  9. 2629
    “…She did not have any secondary causes of hypobetalipoproteinemia. Her father and her younger sister also exhibited low LDL cholesterol levels. …”
    Enlace del recurso
    Enlace del recurso
    Enlace del recurso
    Online Artículo Texto
  10. 2630
    “…The result is often an expensive, invasive evaluation for iron overload, followed by a well-intended prescription for a series of phlebotomies that delivers morbidity instead of benefit. We present a father with an elevated ferritin and heterozygosity for H63D HFE mutation whose clinical course followed this path. …”
    Enlace del recurso
    Enlace del recurso
    Enlace del recurso
    Online Artículo Texto
  11. 2631
    por Yang, Zhou, Qi, Zhan, Xu, Zhe, Li, Wei, Ma, Lin
    Publicado 2020
    “…CASE PRESENTATION: A 15‐month‐old girl presented with CIE associated with compound heterozygous ABCA12 mutations, a known missense mutation c.4139A>G (p.Asn1380Ser) from her father, and a novel missense mutation c.4300A>G (p.Thr1434Ala) from her mother. …”
    Enlace del recurso
    Enlace del recurso
    Enlace del recurso
    Online Artículo Texto
  12. 2632
    “…Assisted reproductive technology (ART) may assist these individuals father children in some cases.…”
    Enlace del recurso
    Enlace del recurso
    Online Artículo Texto
  13. 2633
    “…RESULTS: The patient was diagnosed as a case of DBA based on peripheral blood finding, bone marrow aspiration with trephine biopsy reports, and genetic mutation analysis of the RPS19 gene. His father refused hematopoietic stem cell transplantation for financial constraints. …”
    Enlace del recurso
    Enlace del recurso
    Enlace del recurso
    Online Artículo Texto
  14. 2634
    “…The findings were partly similar for father's and mother's deaths. We demonstrated that the negative associations between parental death and child wellbeing differ by cause of death and parental resources. …”
    Enlace del recurso
    Enlace del recurso
    Enlace del recurso
    Online Artículo Texto
  15. 2635
  16. 2636
    “…Initially, a 14-year-old girl with histoid leprosy was diagnosed and, exploring this case, her father was diagnosed with the same clinical form of leprosy. …”
    Enlace del recurso
    Enlace del recurso
    Enlace del recurso
    Online Artículo Texto
  17. 2637
    “…The patients had nausea, abdominal pain, and headache when they presented with hemoglobin levels of 23 g/dL and 19.4 g/dL, respectively. Their father, paternal uncle, and probably the paternal aunt and grandmother had congenital erythrocytosis. …”
    Enlace del recurso
    Enlace del recurso
    Enlace del recurso
    Online Artículo Texto
  18. 2638
    “…DESIGN: The present cross‐sectional study was conducted on 617 Iranian father–mother dyads in 2018. METHODS: During a systematic sampling method, Afrooz Marital Satisfaction Scale and Parenting Styles and Dimensions Questionnaire were administered. …”
    Enlace del recurso
    Enlace del recurso
    Enlace del recurso
    Online Artículo Texto
  19. 2639
    “…Immune hemolytic disease of the fetus and newborn is a condition in which there is the premature destruction of fetal or neonatal red cells due to maternal alloantibody against red cell antigen inherited from father. We report the case of Hemolytic disease of fetus and newborn (HDFN) due to anti-E and anti-Fya antibody. …”
    Enlace del recurso
    Enlace del recurso
    Enlace del recurso
    Online Artículo Texto
  20. 2640
    “…Pauline, a 67 year-old widow, compares the “natural” deaths of her sister and father-in-law to the suicide of her husband. Careful readings of her interview transcript reveal that the unexpected way that her husband died became a salient part of her identity and the way she connects with others. …”
    Enlace del recurso
    Enlace del recurso
    Online Artículo Texto
Herramientas de búsqueda: RSS