Zobrazeno 1 - 10
of 247
pro vyhledávání: '"J. Chemke"'
Publikováno v:
European Journal of Pediatrics. 150:797-799
The acrocallosal syndrome (ACS) was recognized by Schinzel in 1979 as a specific entity, characterized by the association of craniofacial anomalies, total or partial agenesis of corpus callosum, polysyndactyly and mental retardation. The inheritance
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d12a92adbe72a02a295cdb227a6bd414
https://doi.org/10.1007/bf02026715
https://doi.org/10.1007/bf02026715
Autor:
J, Chemke, J, Zlotogora
Publikováno v:
European journal of human genetics : EJHG. 5
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::51804b658204a19874184994198f5643
https://pubmed.ncbi.nlm.nih.gov/9450205
https://pubmed.ncbi.nlm.nih.gov/9450205
Publikováno v:
Prenatal diagnosis. 16(2)
Progress in the prevention and prenatal detection of birth defects has led to a relative increase in the number of interruption of pregnancies associated with chromosomal abnormalities. There is an inverse relationship between the rate of success of
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::fad9efb830403f4ceb2d112ecfb8b1b7
https://pubmed.ncbi.nlm.nih.gov/8650128
https://pubmed.ncbi.nlm.nih.gov/8650128
Autor:
Israela Lerer, S Merin, J Chemke, Z Gelman-Kohan, Joël Zlotogora, Dvorah Abeliovich, Saul Silverstein
Publikováno v:
Journal of medical genetics. 32(12)
Cafe au lait spots (CALS) are a frequent and one of the early manifestations of neurofibromatosis 1 (NF1). However, there are patients with isolated CALS who do not meet the diagnostic criteria for NFI. There are several reports of families in which
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::637b16c9e89835b010b6886aa45df636
https://pubmed.ncbi.nlm.nih.gov/8825931
https://pubmed.ncbi.nlm.nih.gov/8825931
Autor:
H, Dar, T, Chemke, T, Schaap, R, Chaki, H, Bait-Or, H, Cohen, Z, Borochowitz, Z, Falik-Borenstein, Z, Gelman-Kohan, J, Chemke
Publikováno v:
Israel journal of medical sciences. 31(5)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::19807eaf27dc67eea3dd643fa269e129
https://pubmed.ncbi.nlm.nih.gov/7759228
https://pubmed.ncbi.nlm.nih.gov/7759228
Publikováno v:
Human genetics. 92(4)
Two healthy adults, brother and sister, who are homozygotes for inv2(p12q14) are reported. As this is the first report of homozygosity for this inversion the authors ask to be informed of any further known cases.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::93ca7add001ca07dad0eba3a3bf0e718
https://pubmed.ncbi.nlm.nih.gov/8225326
https://pubmed.ncbi.nlm.nih.gov/8225326
Publikováno v:
Harefuah. 124(4)
Huntington's disease is an autosomal dominant entity with onset mostly in middle age. Neurological signs and psychosis evolve without possibility of treatment or alleviation. Genetic counseling of relatives of patients has changed since the developme
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::f8d014c1f67e27e6b039ba0a965f6b64
https://pubmed.ncbi.nlm.nih.gov/8495897
https://pubmed.ncbi.nlm.nih.gov/8495897
Publikováno v:
Harefuah. 123(11)
Between November 1985 and June 1990 we performed 400 first trimester chorionic villi samplings (CVS). In the first 107 cases only transcervical CVS was performed, regardless of placental location. Later, 163 transcervical and 130 transabdominal CVS w
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::122c76f823a9f4405cf50d32b828d506
https://pubmed.ncbi.nlm.nih.gov/1487195
https://pubmed.ncbi.nlm.nih.gov/1487195
Publikováno v:
Israel journal of medical sciences. 28(10)
A twice-yearly audit of a sample of medical records from each department of a general hospital was initiated by a quality assurance committee and pursued for 8 years. Missing entries that were considered obligatory for good medical performance of eac
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::2658fd3542c3ca927dad9b6bf902e193
https://pubmed.ncbi.nlm.nih.gov/1399501
https://pubmed.ncbi.nlm.nih.gov/1399501
Autor:
Lawrence Sweetman, J. J. McGill, D. Chitayat, B. Rosenblatt, Orval A. Mamer, J. B. Kronick, Kenneth M. Gibson, Charles R. Scriver, J. Chemke
Publikováno v:
Journal of inherited metabolic disease. 15(2)
The Mendelian disorder known as 3-methylgutaconic aciduria (McKusick 250950) gives evidence of allelic and locus heterogeneity. Type 1 has a mild clinical phenotype and confirmed 3-methylgutaconyl-CoA hydratase deficiency; inheritance is autosomal re
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::48f7561b2f19bfb2e3fbd22ad69f8568
https://pubmed.ncbi.nlm.nih.gov/1382150
https://pubmed.ncbi.nlm.nih.gov/1382150