Zobrazeno 1 - 10
of 228
pro vyhledávání: '"V A, McKusick"'
Autor:
V A McKusick
Publikováno v:
Clinical Genetics
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0dfdc23f5335e28c3423bdbf08025bba
https://doi.org/10.1111/j.1399-0004.1984.tb00472.x
https://doi.org/10.1111/j.1399-0004.1984.tb00472.x
Autor:
V A, MCKUSICK
Publikováno v:
A listing of research in the cardiovascular field. 10
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::e567903cca49ee5dbccc7d745f4035fa
https://pubmed.ncbi.nlm.nih.gov/24547437
https://pubmed.ncbi.nlm.nih.gov/24547437
Autor:
V A, MCKUSICK
Publikováno v:
A listing of research in the cardiovascular field. 10
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::ef372d8a3b5b40b6cea3740182af7f35
https://pubmed.ncbi.nlm.nih.gov/24547442
https://pubmed.ncbi.nlm.nih.gov/24547442
Publikováno v:
Journal of Medical Genetics. 31:507-517
Congenital malformations frequently arise sporadically, making it difficult to determine whether or not they are genetic in aetiology, let alone which gene(s) may be involved. Nevertheless, rapid progress has been made over recent years in the locali
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dd25d35275a00e7dc84ca20cd47e6b9f
https://doi.org/10.1136/jmg.31.7.507
https://doi.org/10.1136/jmg.31.7.507
Autor:
V A, McKusick
Publikováno v:
Methods of information in medicine. 4(4)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::dcc0abe65a240dbb772472b58a5b3e69
https://pubmed.ncbi.nlm.nih.gov/21748892
https://pubmed.ncbi.nlm.nih.gov/21748892
Medical genetics. A 40-year perspective on the evolution of a medical specialty from a basic science
Autor:
V A, McKusick
Publikováno v:
JAMA: The Journal of the American Medical Association. 270:2351-2356
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b376b43d378df78ca5dce1f061ef8206
https://doi.org/10.1001/jama.270.19.2351
https://doi.org/10.1001/jama.270.19.2351
Autor:
L, Peltonen, V A, McKusick
Publikováno v:
Science (New York, N.Y.). 291(5507)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::8936b76b1245f1b00b65d9192934cb56
https://pubmed.ncbi.nlm.nih.gov/11233446
https://pubmed.ncbi.nlm.nih.gov/11233446
Publikováno v:
Clinical genetics. 58(1)
The polydactyly, imperforate anus, vertebral anomalies syndrome (PIV, OMIM 174100) was determined as a distinct syndrome by Say and Gerald in 1968 (Say B, Gerald PS. Lancet 1968: 2: 688). We noted that the features of PIV overlap with the VATER assoc
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::ce58aa6b5a0da6689885cd8f1e03a6a3
https://pubmed.ncbi.nlm.nih.gov/10945658
https://pubmed.ncbi.nlm.nih.gov/10945658
Publikováno v:
Human mutation. 15(1)
Online Mendelian Inheritance In Man (OMIM) is a public database of bibliographic information about human genes and genetic disorders. Begun by Dr. Victor McKusick as the authoritative reference Mendelian Inheritance in Man, it is now distributed elec
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::c013195118deb10cc7995581d1454e5d
https://pubmed.ncbi.nlm.nih.gov/10612823
https://pubmed.ncbi.nlm.nih.gov/10612823
Cloning of multiple keratin 16 genes facilitates prenatal diagnosis of pachyonychia congenita type 1
Publikováno v:
Prenatal diagnosis. 19(10)
Pachyonychia congenita type 1 (PC-1) is an autosomal dominant ectodermal dysplasia characterized by severe nail dystrophy, focal non-epidermolytic palmoplantar keratoderma (FNEPPK) and oral lesions. We have previously shown that mutations in keratin
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::1e00cc86f2de80a06149ccc1564c61d8
https://pubmed.ncbi.nlm.nih.gov/10521820
https://pubmed.ncbi.nlm.nih.gov/10521820