Beruflich Dokumente
Kultur Dokumente
2. Bushby K, Finkel R, Birnkrant DJ, Case LE, Clemens PR, Cripe L, Kaul A, Kinnett K,
McDonald C, Pandya S, Poysky J. Diagnosis and management of Duchenne muscular
dystrophy, part 1: diagnosis, and pharmacological and psychosocial management. The
Lancet Neurology. 2010 Jan 31;9(1):77-93.
3. Handyside, Alan H., et al. "Birth of a normal girl after in vitro fertilization and
preimplantation diagnostic testing for cystic fibrosis." New England Journal of
Medicine 327.13 (1992): 905-909.
5. Manco-Johnson, Marilyn J., et al. "Prophylaxis versus episodic treatment to prevent joint
disease in boys with severe hemophilia." New England Journal of Medicine 357.6
(2007): 535-544.
8. Xing, J., et al. "Genetic and clinical analysis of nonsyndromic hearing impairment in
pediatric and adult cases." Balkan Journal of Medical Genetics 19.1 (2016): 35-42.
9. Gass, Jennifer M., et al. "A Case of Two Repeats: Huntington's Disease and
Spinocerebellar Ataxia Type 8." Movement Disorders Clinical Practice (2016).
10. Yehuda, Rachel, et al. "Influences of maternal and paternal PTSD on epigenetic
regulation of the glucocorticoid receptor gene in Holocaust survivor offspring." American
Journal of Psychiatry 171.8 (2014): 872-880.
12. Echevarria, L., et al. "Xchromosome inactivation in female patients with Fabry
disease." Clinical genetics 89.1 (2016): 44-54.
15. Ahmed, D., et al. "Epigenetic and genetic features of 24 colon cancer cell
lines." Oncogenesis 2.9 (2013): e71.
16. Easton, Douglas F., et al. "Gene-panel sequencing and the prediction of
breast-cancer risk." New England Journal of Medicine 372.23 (2015):
2243-2257.
17. Hunger, Stephen P., and Charles G. Mullighan. "Acute lymphoblastic leukemia in
children." New England Journal of Medicine 373.16 (2015): 1541-1552.
19. Ginn, Samantha L., et al. "Gene therapy clinical trials worldwide to 2012an
update." The journal of gene medicine 15.2 (2013): 65-77.
21. Fusco, Carmela, et al. "Smaller and larger deletions of the Williams Beuren syndrome
region implicate genes involved in mild facial phenotype, epilepsy and autistic
traits." European Journal of Human Genetics 22.1 (2014): 64-70.
24. Agrawala, Ritesh Kumar, et al. "All males do not have 46 xy karyotype: A rare case
report." Indian journal of endocrinology and metabolism 17.Suppl 1 (2013): S271-3.
25. Ceylan, Gulay Gulec, and Cavit Ceylan. "Genetics and male infertility." World J Clin
Urol 4.1 (2015): 38-47.