Result 1 - 10 of total 130
Atlanta journal-record of medicine
2022 Volume 11, Issue 11, Page(s) 582–588
| Language | English |
|---|---|
| Publishing date | 2022-08-26 |
| Publishing country | United States |
| Document type | Journal Article |
| Database | MEDical Literature Analysis and Retrieval System OnLINE |
Your chosen title can be delivered directly to ZB MED Cologne location if you are registered as a user at ZB MED Cologne.
Atlanta journal-record of medicine
2022 Volume 10, Issue 5, Page(s) 264–271
| Language | English |
|---|---|
| Publishing date | 2022-08-26 |
| Publishing country | United States |
| Document type | Journal Article |
| Database | MEDical Literature Analysis and Retrieval System OnLINE |
Your chosen title can be delivered directly to ZB MED Cologne location if you are registered as a user at ZB MED Cologne.
2007
| Author's details | Edward G. Jones |
|---|---|
| Keywords | Thalamus |
| Language | English |
| Dates of publication | 2007-9999 |
| Edition | 2. ed. |
| Publisher | Cambridge Univ. Press |
| Publishing place | Cambridge u.a. |
| Publishing country | Great Britain |
| Document type | Book ; Collection (display volumes) |
| Note | 1. Aufl. in einem Band erschienen |
| HBZ-ID | HT015034607 |
| ISBN | 0-521-85881-X ; 978-0-521-85881-6 |
| Database | Catalogue ZB MED Medicine, Health |
This service is chargeable due to the Delivery terms set by subito. Orders including an article and supplementary material will be classified as separate orders. In these cases, fees will be demanded for each order.
2007
| Author's details | Edward G. Jones |
|---|---|
| Collection | The thalamus |
| Language | English |
| Size | XII S., S. 706 - 1679 : zahlr. Ill., graph. Darst. |
| Publisher | Cambridge Univ. Press |
| Publishing place | Cambridge u.a. |
| Publishing country | Great Britain |
| Document type | Book |
| HBZ-ID | HT015034628 |
| Database | Catalogue ZB MED Medicine, Health |
| Shelf mark | Loan status | Location |
|---|---|---|
| 2007 A 5678 | order for loan | Magazin |
This service is chargeable due to the Delivery terms set by subito. Orders including an article and supplementary material will be classified as separate orders. In these cases, fees will be demanded for each order.
2007
| Author's details | Edward G. Jones |
|---|---|
| Collection | The thalamus |
| Language | English |
| Size | XVII, 702 S. : zahlr. Ill., graph. Darst. |
| Publisher | Cambridge Univ. Press |
| Publishing place | Cambridge u.a. |
| Publishing country | Great Britain |
| Document type | Book |
| HBZ-ID | HT015034625 |
| Database | Catalogue ZB MED Medicine, Health |
| Shelf mark | Loan status | Location |
|---|---|---|
| 2007 A 5677 | order for loan | Magazin |
This service is chargeable due to the Delivery terms set by subito. Orders including an article and supplementary material will be classified as separate orders. In these cases, fees will be demanded for each order.
Atlanta journal-record of medicine
2022 Volume 59, Issue 7, Page(s) 345–365
| Language | English |
|---|---|
| Publishing date | 2022-08-26 |
| Publishing country | United States |
| Document type | Journal Article |
| Database | MEDical Literature Analysis and Retrieval System OnLINE |
Your chosen title can be delivered directly to ZB MED Cologne location if you are registered as a user at ZB MED Cologne.
proceed. of an Upjohn UCLA Symposium [Molecular Biology of the Human Brain], held in Keystone, Colo., April 19 - 26, 1987
(UCLA Symposia on Molecular and Cellular Biology ; N.s., 72)
1988
| Event/congress | Symposium Molecular Biology of the Human Brain (1987, KeystoneColo.) |
|---|---|
| Author's details | ed. Edward G. Jones |
| Series title | UCLA Symposia on Molecular and Cellular Biology ; N.s., 72 |
| Collection | |
| Keywords | Brain / physiology / congresses ; Central Nervous System Diseases / congresses ; Molecular Biology / congresses ; Gehirn ; Molekularbiologie |
| Subject | Molekulare Biologie ; Cerebrum ; Hirn ; Encephalon ; Enzephalon ; Hirngewebe ; Hirnmasse ; Gehirnmasse |
| Language | English |
| Size | XIII, 198 S. : graph. Darst. |
| Publisher | Liss |
| Publishing place | New York |
| Publishing country | United States |
| Document type | Book ; Conference proceedings |
| HBZ-ID | HT003159084 |
| ISBN | 0-8451-2671-7 ; 978-0-8451-2671-4 |
| Database | Catalogue ZB MED Medicine, Health |
| Shelf mark | Loan status | Location |
|---|---|---|
| 1988 A 3602 | order for loan | Magazin |
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Journal of visualized experiments : JoVE
2019 , Issue 143
Abstract: Advancements in the cost and speed of next generation genetic sequencing have generated an explosion of clinical whole exome and whole genome testing. While this has led to increased identification of likely pathogenic mutations associated with genetic ... ...
| Abstract | Advancements in the cost and speed of next generation genetic sequencing have generated an explosion of clinical whole exome and whole genome testing. While this has led to increased identification of likely pathogenic mutations associated with genetic syndromes, it has also dramatically increased the number of incidentally found genetic variants of unknown significance (VUS). Determining the clinical significance of these variants is a major challenge for both scientists and clinicians. An approach to assist in determining the likelihood of pathogenicity is signal-to-noise analysis at the protein sequence level. This protocol describes a method for amino acid-level signal-to-noise analysis that leverages variant frequency at each amino acid position of the protein with known protein topology to identify areas of the primary sequence with elevated likelihood of pathologic variation (relative to population "background" variation). This method can identify amino acid residue location "hotspots" of high pathologic signal, which can be used to refine the diagnostic weight of VUSs such as those identified by next generation genetic testing. |
|---|---|
| MeSH term(s) | Amino Acids/genetics ; Gene Frequency/genetics ; Genetic Variation ; Humans ; KCNQ1 Potassium Channel/genetics ; Likelihood Functions ; Mutation ; Proteins/genetics ; Signal-To-Noise Ratio |
| Chemical Substances | Amino Acids ; KCNQ1 Potassium Channel ; Proteins |
| Language | English |
| Publishing date | 2019-01-16 |
| Publishing country | United States |
| Document type | Journal Article ; Research Support, N.I.H., Extramural ; Video-Audio Media |
| ZDB-ID | 2259946-0 |
| ISSN | 1940-087X ; 1940-087X |
| ISSN (online) | 1940-087X |
| ISSN | 1940-087X |
| DOI | 10.3791/58907 |
| Database | MEDical Literature Analysis and Retrieval System OnLINE |
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1985
| Keywords | Thalamus |
|---|---|
| Language | English |
| Size | XVII, 935 S. : zahlr. Ill., graph. Darst. |
| Publisher | Plenum Pr |
| Publishing place | New York u.a. |
| Publishing country | United States |
| Document type | Book |
| Note | 2. Aufl. in 2 Bänden erschienen |
| HBZ-ID | HT002288184 |
| ISBN | 0-306-41856-8 ; 978-0-306-41856-3 |
| Database | Catalogue ZB MED Medicine, Health |
| Shelf mark | Loan status | Location |
|---|---|---|
| 1986 A 930 | order for loan | Magazin |
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1997
| Collection | Thalamus |
|---|---|
| Language | English |
| Size | XVI, 959 S. : Ill., graph. Darst. |
| Publisher | Elsevier |
| Publishing place | Amsterdam u.a. |
| Publishing country | Netherlands |
| Document type | Book |
| HBZ-ID | HT008085006 |
| Database | Catalogue ZB MED Medicine, Health |
| Shelf mark | Loan status | Location |
|---|---|---|
| 1998 A 4944 -1- | order for loan | Magazin |
This service is chargeable due to the Delivery terms set by subito. Orders including an article and supplementary material will be classified as separate orders. In these cases, fees will be demanded for each order.