Zobrazeno 1 - 10
of 12
pro vyhledávání: '"Erin L. Youngs"'
Publikováno v:
Journal of Family Communication. 15:368-386
This study explores the family communication of women (N = 175) who have tested positive for a gene alteration that predisposes them to an increased risk for cancer. More specifically, this study utilizes family communication patterns theory and comm
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::40c970ac3a2dba4c910369d03ff11e7c
https://doi.org/10.1080/15267431.2015.1076423
https://doi.org/10.1080/15267431.2015.1076423
Publikováno v:
European Journal of Medical Genetics. 55:32-36
Intellectual disability affects approximately 2% of the population with males outnumbering females due to involvement of over 300 genes on the X chromosome. The most common form of X-linked intellectual disability (XLID) is fragile X syndrome. We rep
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c7c849d440b1b5c873b11eed537e6daa
https://doi.org/10.1016/j.ejmg.2011.08.004
https://doi.org/10.1016/j.ejmg.2011.08.004
Autor:
Merlin G. Butler, Jessica A. Hellings, Erin L. Youngs, Timothy McCord, Adele Schneider, Nancy B. Spinner
Publikováno v:
American Journal of Medical Genetics Part A. :230-233
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b1bd660927f12b611ce24069b66eaa20
https://doi.org/10.1002/ajmg.a.33196
https://doi.org/10.1002/ajmg.a.33196
Publikováno v:
Autism Research and Treatment, Vol 2012 (2012)
Autism Research and Treatment
Autism Research and Treatment
Autism spectrum disorders (ASDs) are neurobehavioral disorders characterized by abnormalities in three behavioral domains including social interaction, impaired communication, and repetitive stereotypic behaviors. ASD affects approximately 1% of chil
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d2345dfc8e761fe3bae9249833b82cce
https://doaj.org/article/f3ad868f51e6455bb186ccd3f63c7eff
https://doaj.org/article/f3ad868f51e6455bb186ccd3f63c7eff
Publikováno v:
Clinical dysmorphology. 20(3)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::82613114c7adcffa28b30ddba86e7a26
https://pubmed.ncbi.nlm.nih.gov/21527850
https://pubmed.ncbi.nlm.nih.gov/21527850
Publikováno v:
Clin Dysmorphol
Deletions of the chromosome 14q32 region are rare but common clinical features indicate the presence of a cytogenetic syndrome. This condition is characterized by developmental delay, hypotonia, and a particular face (broad and flat nasal bridge, bro
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f43e8bcaf2d2a47e8f6442acaa0b2ca6
https://pubmed.ncbi.nlm.nih.gov/21358539
https://pubmed.ncbi.nlm.nih.gov/21358539
Autor:
Peter Papenhausen, Inder K. Gadi, Fady M. Mikhail, Venkateswara R. Potluri, Janice L. Smith, Nathaniel H. Robin, Hiba Risheg, Rachel D. Burnside, Erin L. Youngs, Merlin G. Butler, Andrew J. Carroll, James Tepperberg, Vikram L. Jaswaney, Brooke Rush, Romela Pasion, Stuart Schwartz, Elizabeth Keitges
Publikováno v:
Human genetics. 130(4)
The proximal long arm of chromosome 15 has segmental duplications located at breakpoints BP1–BP5 that mediate the generation of NAHR-related microdeletions and microduplications. The classical Prader-Willi/Angelman syndrome deletion is flanked by e
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::83693dc832c28c06095a247163b203d5
https://pubmed.ncbi.nlm.nih.gov/21359847
https://pubmed.ncbi.nlm.nih.gov/21359847
Publikováno v:
Journal of Family Communication; Oct-Dec2015, Vol. 15 Issue 4, p368-386, 19p, 1 Diagram, 2 Charts
Publikováno v:
Clinical Dysmorphology; Apr2012, Vol. 21 Issue 2, p93-96, 4p