Zobrazeno 1 - 7
of 7
pro vyhledávání: '"Margie Jaworski"'
Autor:
Jieun Song, Margie Jaworski, Deborah Krakow, Lukas Balek, Michael J. Bamshad, Michaela Bosakova, S. Paige Taylor, Iva Jelínková, Miroslav Varecha, Aleš Hampl, Pavel Krejci, Ivan Duran, Jorge H. Martin, Kimberly N. Forlenza, Iva Vesela, Lukáš Trantírek, Daniel H. Cohn, Tomáš Bárta, Hyuk Wan Ko, Deborah A. Nickerson
Publikováno v:
Human molecular genetics. 25(18)
The short rib polydactyly syndromes (SRPS) are a group of recessively inherited, perinatal-lethal skeletal disorders primarily characterized by short ribs, shortened long bones, varying types of polydactyly and concomitant visceral abnormalities. Mut
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4138356c0e38618bf901a4070652c0a4
https://pubmed.ncbi.nlm.nih.gov/27466187
https://pubmed.ncbi.nlm.nih.gov/27466187
Autor:
Joann Bodurtha, Margie Jaworski, Gary W. Tye, Colleen Jackson-Cook, Judith A. Hiemenga, Peter R. Papenhausen, Jia Yan, Tiffany Powell, Arti Pandya, Christine E. Fuller, Eric M. Lyders, Brian P F Deuell, Ann M. Ritter, Lauren N. Huddle
Publikováno v:
Journal of Neurosurgery: Pediatrics. 9:17-23
The authors report a rare case of multiple intracranial fetuses in fetu, fulfilling Willis' traditional criteria, which include an axial and appendicular skeleton with surrounding organized tissue. This case was ascertained from studies of a full-ter
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::414680d25d9aa5e87bf1cb9713980c54
https://doi.org/10.3171/2011.10.peds11196
https://doi.org/10.3171/2011.10.peds11196
Publikováno v:
Journal of Child Neurology. 29:412-414
The hypothesis that the presence of macrocephaly might vary with the specific growth chart used was tested by using the Nellahus, CDC, and recent Rollins et al revision head circumference charts to plot the head circumferences of 253 children with ne
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d668e5e3368845b45360d2de52582148
https://doi.org/10.1177/0883073812469827
https://doi.org/10.1177/0883073812469827
Autor:
Lauren N, Huddle, Christine, Fuller, Tiffany, Powell, Judith A, Hiemenga, Jia, Yan, Brian, Deuell, Eric M, Lyders, Joann N, Bodurtha, Peter R, Papenhausen, Colleen K, Jackson-Cook, Arti, Pandya, Margie, Jaworski, Gary W, Tye, Ann M, Ritter
Publikováno v:
Journal of neurosurgery. Pediatrics. 9(1)
The authors report a rare case of multiple intracranial fetuses in fetu, fulfilling Willis' traditional criteria, which include an axial and appendicular skeleton with surrounding organized tissue. This case was ascertained from studies of a full-ter
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::664848896b383137278e036f32da01cf
https://pubmed.ncbi.nlm.nih.gov/22208315
https://pubmed.ncbi.nlm.nih.gov/22208315
Publikováno v:
Journal of child neurology. 26(5)
The records of 954 ambulatory children presenting for initial evaluation to a university developmental pediatrician were reviewed for the prevalence of persistent toe walking and associated tight heel cords. The incidence of persistent toe walking (2
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cd47bd738e768d8cfd19e7df22903e77
https://pubmed.ncbi.nlm.nih.gov/21285033
https://pubmed.ncbi.nlm.nih.gov/21285033
Autor:
Margie Jaworski, Pasquale J. Accardo
Publikováno v:
The Journal of Pediatrics. 156:871-872
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::1ad8a1dba1069ffb352ffd7b97bd71e5
https://doi.org/10.1016/j.jpeds.2010.02.026
https://doi.org/10.1016/j.jpeds.2010.02.026
Publikováno v:
Clinical Pediatrics. 25:100-102
An 8-year-old male is presented with clinical findings of Townes syndrome in an otherwise unaffected family. Additional abnormalities possibly representing low frequency associations of this autosomal dominant multiple malformation syndrome included
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ede74d3aa20642cf85ca044c7cecdfd9
https://doi.org/10.1177/000992288602500209
https://doi.org/10.1177/000992288602500209