Zobrazeno 1 - 10
of 35
pro vyhledávání: '"Burjor A. Bharucha"'
Autor:
Stephanie Kawecki, Henrike Rees, Liza A. Squires, Edwin C. Douglass, Raymond K. Mulhern, Lee-Cyn Ang, Chandrahans T. Deshmukh, Jeffrey H. Wisoff, Shlomo Constantini, Rick Abbott, Oliver N.R. Dold, Robin Casey, Douglas C. Miller, Robert A. Sanford, Ian F. Pollack, Mark Lee, Richard D. Brownlee, Simin F. Irani, Burjor A. Bharucha, David George, John F. Kuttesch, Richard L. Heideman, Girish Gupte, Sumeer Sathi, Terence Myles, Fred Epstein, Diana Leahu, Edward H. Kovnar, Larry E. Kun, Michael S. Muhlbauer, Howard L. Weiner, Michael Scott, Judith Ochs, Douglas Tai, James Fontanesi, Sepideh Amin-Hanjani
Publikováno v:
Pediatric Neurosurgery. 22:I-IV
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::c5d5aacf29dd629c2495356ac82f30da
https://doi.org/10.1159/000120916
https://doi.org/10.1159/000120916
Publikováno v:
The Indian Journal of Pediatrics. 61:729-732
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2e26a465d65d1c0dda8a94b88928276d
https://doi.org/10.1007/bf02751991
https://doi.org/10.1007/bf02751991
Publikováno v:
The Indian Journal of Pediatrics. 61:367-372
The term dysostosis multiplex is specifically applied to the group of radiological features collectively found in a number of specific metabolic disorders including the mucopolysaccharidoses, mucolipidosis, mannosidosis, fucosidosis and several other
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2f97cdd90a813ef2b77c693cfc603b6a
https://doi.org/10.1007/bf02751891
https://doi.org/10.1007/bf02751891
Autor:
Burjor A. Bharucha, Archana Kher, Sachin Khambadkone, S. F. Irani, K. L. Ratnam, Meenakshi Bhat
Publikováno v:
The Indian Journal of Pediatrics. 60:813-818
Spondylocostal dysostosis is a rare condition characterized by short stature due to a short trunk, multiple morphological abnormalities of the vertebrae and ribs due to malsegmentation of the axial skeleton. Radiological features include reduced numb
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8760efab30e616d5ca20db7b7adb3cd5
https://doi.org/10.1007/bf02751055
https://doi.org/10.1007/bf02751055
Publikováno v:
Clinical Dysmorphology. 10:281-283
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::6803e6a6f04a644980694deb608615c2
https://doi.org/10.1097/00019605-200110000-00009
https://doi.org/10.1097/00019605-200110000-00009
Autor:
Shampa Dutta, Prashant V. Vaidya, Archana S. Kher, Narsing B. Kumta, Burjor A. Bharucha, Sanjeevani A. Khurandal
Publikováno v:
The Indian Journal of Pediatrics. 58:701-715
Chromosomal anomalies in the form of deletions are suspected when the patient presents wiih multiple congenital anomalies. At least 6 cases of deletion 20p (11) have been reported in literature. We present a 6�89 year old female child with the same
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::779123c059d7d5ddc7d0531734709789
https://doi.org/10.1007/bf02820196
https://doi.org/10.1007/bf02820196
Autor:
Mamta N. Muranjan, Milind S. Tullu, Burjor A. Bharucha, Sheela P. Kerkar, Katta M. Girisha, Priyanka Arora
Publikováno v:
Indian journal of pediatrics. 70(7)
Objective : To identify genetic disorders associated with ophthalmologic abnormalities; type and frequency of various ophthalmologic abnormalities associated with selected genetic and inherited disorders; and devise a suitable classification for opht
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c43b95490fea8499c903da5c2c96478c
https://pubmed.ncbi.nlm.nih.gov/12940376
https://pubmed.ncbi.nlm.nih.gov/12940376
Publikováno v:
American journal of medical genetics. Part A. (3)
A ring chromosome 12 (p13; q24.33) was observed in all cells analyzed from peripheral blood lymphocytes of a 15-year-old female referred for academic difficulties and growth delay. In addition to clinical manifestations generally observed with ring c
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fb357b8990d89ad0ca905f90e665ee54
https://pubmed.ncbi.nlm.nih.gov/12599192
https://pubmed.ncbi.nlm.nih.gov/12599192
Publikováno v:
Indian journal of pediatrics. 66(1)
We report three brothers with Allgrove syndrome. All three had evidence of adrenal insufficiency and deficient tear production, though neither of them had achalasia, the third component of the disorder at the time of this report. Neurological abnorma
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fc41a9b50cc9bbd3da3c70cd203d6097
https://pubmed.ncbi.nlm.nih.gov/10798051
https://pubmed.ncbi.nlm.nih.gov/10798051
Autor:
Arijit Chattopadhyay, Burjor A. Bharucha, Archana S. Kher, V. K. Sreenivasan, Sanjivani Kanade, Shampa Datta
Publikováno v:
Clinical Genetics. 46:382-383
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::c853c4971fee1b5813c585f32c6e7fdc
https://doi.org/10.1111/j.1399-0004.1994.tb04185.x
https://doi.org/10.1111/j.1399-0004.1994.tb04185.x