Zobrazeno 1 - 10
of 11
pro vyhledávání: '"P. M. Fernhoff"'
Publikováno v:
Journal of the Medical Association of Georgia. 88(4)
The main objectives were to describe the epidemiology of primary congenital hypothyroidism (CH) in Georgia during the past 20 years and specifically to determine whether there was a significant increase in CH prevalence proximal to the Savannah River
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::9e3cadd5eaf7ae1bf82389f7486b185a
https://pubmed.ncbi.nlm.nih.gov/10666993
https://pubmed.ncbi.nlm.nih.gov/10666993
Publikováno v:
American journal of medical genetics. 62(3)
We report on a live-born infant with mosaicism of tetraploidy and trisomy 8 who had craniofacial abnormalities, cardiac and genitourinary defects, agenesis of the corpus callosum, and anomalies of limbs. The infant died at age 14 weeks. Molecular stu
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::3ca4abebfe981e3fb9365fb92ac692bc
https://pubmed.ncbi.nlm.nih.gov/8882781
https://pubmed.ncbi.nlm.nih.gov/8882781
Publikováno v:
Pediatrics. 96(5 Pt 1)
To determine the impact of prenatal diagnosis on the birth prevalence of neural tube defects (NTDs) in Atlanta during 1990 through 1991.Live-born and stillborn infants with NTDs who were at least 20 weeks' gestation were ascertained by the Metropolit
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::c97e77b6ca0e0b4dcac955a3de5d13af
https://pubmed.ncbi.nlm.nih.gov/7478829
https://pubmed.ncbi.nlm.nih.gov/7478829
Autor:
P. M. Fernhoff, Nicolas Krawiecki, P. J. Holt, Douglas C. Wallace, M. T. Lott, Scott W. Ballinger, Meraida Polak, Y. Takei, Deborah A. Koontz, Rafael G. Ortiz, Nancy J. Newman, D. B. Caplan, John M. Shoffner
Publikováno v:
Neurology. 42:2168-2168
Subacute necrotizing encephalopathy (SNE) or Leigh's disease is associated with various defects in oxidative phosphorylation (OXPHOS). However, the relationships between these OXPHOS defects and nuclear DNA or mitochondrial DNA (mtDNA) mutations is s
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2d0f9e73ae4f7d53d405c92672aa270e
https://doi.org/10.1212/wnl.42.11.2168
https://doi.org/10.1212/wnl.42.11.2168
Publikováno v:
Pediatric Research. 30:1
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::a5cf26acc42a49c9f2e73be71dd59072
https://doi.org/10.1203/00006450-199107010-00001
https://doi.org/10.1203/00006450-199107010-00001
Publikováno v:
Journal of the American College of Nutrition. 1:305-308
The effect of protein distribution on nitrogen balance and the plasma aminogram was studied in a 34-month-old male child with propionic acidemia. Protein provided 4.8% of energy of which high biological value protein was given either as a bolus or ev
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3f78d9dedde7d3a95acc43f44bb5b06c
https://doi.org/10.1080/07315724.1982.10718999
https://doi.org/10.1080/07315724.1982.10718999
Publikováno v:
Journal of Medical Genetics. 13:389-393
Four families are described with a t(13q14q) segregating. Two of them were identified through index cases with Down's syndrome; their karotypes revealed the unusual 46,XY, -13, -14, +t(13q14q), +21. The other two families were identified through a ch
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6f06e65f22b0ece3a17690173e0d2304
https://doi.org/10.1136/jmg.13.5.389
https://doi.org/10.1136/jmg.13.5.389
Autor:
P M, Fernhoff, G P, Oakley
Publikováno v:
Lancet (London, England). 2(7930)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::6b2f9197ebdb0b9a82a1e084e0bfd248
https://pubmed.ncbi.nlm.nih.gov/51175
https://pubmed.ncbi.nlm.nih.gov/51175
Publikováno v:
Journal of the American Dietetic Association. 79(5)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::4500335e1bf1dd03ed32341b8e15468a
https://pubmed.ncbi.nlm.nih.gov/7288063
https://pubmed.ncbi.nlm.nih.gov/7288063
Publikováno v:
Neurobehavioral toxicology and teratology. 8(4)
Recent research on the effects of alcohol use during pregnancy indicate that discontinuing alcohol use mid-pregnancy can prevent or minimize many of the adverse consequences usually observed in the children of women who consume alcohol throughout pre
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::0998f93cde910508d4668618c3190cd1
https://pubmed.ncbi.nlm.nih.gov/3762847
https://pubmed.ncbi.nlm.nih.gov/3762847