Zobrazeno 1 - 7
of 7
pro vyhledávání: '"L. D. McDaniel"'
Autor:
J A, Rosenfeld, M E, Tucker, L F, Escobar, N J, Neill, B S, Torchia, L D, McDaniel, R A, Schultz, K, Chong, D, Chitayat
Publikováno v:
Ultrasound in obstetricsgynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology. 46(4)
To determine the frequency of clinically significant chromosomal abnormalities identified by chromosomal microarray in pregnancy losses at any gestational age and to compare microarray performance with that of traditional cytogenetic analysis when te
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::509a1774de97f49f77127854f1927366
https://pubmed.ncbi.nlm.nih.gov/25846569
https://pubmed.ncbi.nlm.nih.gov/25846569
Publikováno v:
American journal of medical genetics. 93(3)
Roberts syndrome (RS) is a rare autosomal recessive disorder characterized by heterogeneous clinical features, the most notable being tetraphocomelia, cleft lip, and cleft palate. Cells derived from most RS patients exhibit abnormal cytogenetic and c
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::7a32fd7b13c5afa3e6a9b5ead1be85b2
https://pubmed.ncbi.nlm.nih.gov/10925387
https://pubmed.ncbi.nlm.nih.gov/10925387
Publikováno v:
Human mutation. 10(4)
The identification of individuals homozygous for a specific mutation offers advantages for the elucidation of molecular mechanisms of hereditary disease states. Cockayne syndrome is a rare autosomal recessive disorder, the molecular basis of which is
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::25cf1edaf149f70380efb3225418e475
https://pubmed.ncbi.nlm.nih.gov/9338586
https://pubmed.ncbi.nlm.nih.gov/9338586
Publikováno v:
Cytogenetics and cell genetics. 63(3)
The cDNA that encodes the human Na+/Ca2+ exchanger (NCX1) involved in regulation of intracellular calcium levels has been isolated from a cardiac cDNA library. Using fluorescent in situ hybridization, the human cDNA was mapped to chromosome region 2p
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::b48bdb9146c5cd5657aa26e2f9414cea
https://pubmed.ncbi.nlm.nih.gov/8485996
https://pubmed.ncbi.nlm.nih.gov/8485996
Publikováno v:
Annales de genetique. 33(2)
A family is reported in which a man with a balanced reciprocal translocation [46,XY,t(7;22)(q32;q13.3)] fathered a daughter who was trisomic for the region 7q32----7qter and monosomic for 22q13.3----22qter, and a male fetus who was monosomic for 7q32
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::33de3bd342f19fdad903bfbe3701fdb0
https://pubmed.ncbi.nlm.nih.gov/2241085
https://pubmed.ncbi.nlm.nih.gov/2241085
Publikováno v:
Cytogenetic and Genome Research. 63:192-193
The cDNA that encodes the human Na+/Ca2+ exchanger (NCXl) involved in regulation of intracellular calcium levels has been isolated from a cardiac cDNA library. Using fluorescent in situ hybridization, the human cDNA was mapped to chromosome region 2p
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::ee8b31665ea4a670e23d9fa67b6b5cf6
https://doi.org/10.1159/000133532
https://doi.org/10.1159/000133532
Publikováno v:
Bell System Technical Journal. 51:1675-1699
Analog multiplexing and coding in the D2 Channel Bank is discussed in this article. Multiplexing of the message signals is accomplished in two stages. In the first stage, groups of 12 channels are multiplexed together using resonant transfer gates. T
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::6a08fd07620fcf2e4d0d30d3ba400d2e
https://doi.org/10.1002/j.1538-7305.1972.tb02677.x
https://doi.org/10.1002/j.1538-7305.1972.tb02677.x