Loss of SMPD4 Causes a Developmental Disorder Characterized by Microcephaly and Congenital Arthrogryposis. (Record no. 30086923)
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|---|---|
| fixed length control field | 03081 a2200985 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250518060512.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 202004s 0 0 eng d |
| 022 ## - INTERNATIONAL STANDARD SERIAL NUMBER | |
| International Standard Serial Number | 1537-6605 |
| 024 7# - OTHER STANDARD IDENTIFIER | |
| Standard number or code | 10.1016/j.ajhg.2019.08.006 |
| Source of number or code | doi |
| 040 ## - CATALOGING SOURCE | |
| Original cataloging agency | NLM |
| Language of cataloging | eng |
| Transcribing agency | NLM |
| 100 1# - MAIN ENTRY--PERSONAL NAME | |
| Personal name | Magini, Pamela |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20200402 |
| 245 00 - TITLE STATEMENT | |
| Title | Loss of SMPD4 Causes a Developmental Disorder Characterized by Microcephaly and Congenital Arthrogryposis. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | American journal of human genetics |
| Date of publication, distribution, etc. | 10 2019 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 689-705 p. |
| Other physical details | digital |
| 500 ## - GENERAL NOTE | |
| General note | Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Arthrogryposis |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Cell Lineage |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Child |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Endoplasmic Reticulum |
| General subdivision | metabolism |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Female |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Gene Expression Profiling |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | HEK293 Cells |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Humans |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Male |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Microcephaly |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Mitosis |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Neurodevelopmental Disorders |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Pedigree |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | RNA Splicing |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Sphingomyelin Phosphodiesterase |
| General subdivision | genetics |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Smits, Daphne J |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Vandervore, Laura |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Schot, Rachel |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Columbaro, Marta |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Kasteleijn, Esmee |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | van der Ent, Mees |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Palombo, Flavia |
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| Personal name | Lequin, Maarten H |
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| Personal name | Dremmen, Marjolein |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | de Wit, Marie Claire Y |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Severino, Mariasavina |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Divizia, Maria Teresa |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Striano, Pasquale |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Ordonez-Herrera, Natalia |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Alhashem, Amal |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Al Fares, Ahmed |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Al Ghamdi, Malak |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Rolfs, Arndt |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Bauer, Peter |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Demmers, Jeroen |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Verheijen, Frans W |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Wilke, Martina |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | van Slegtenhorst, Marjon |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | van der Spek, Peter J |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Seri, Marco |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Jansen, Anna C |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Stottmann, Rolf W |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Hufnagel, Robert B |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Hopkin, Robert J |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Aljeaid, Deema |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Wiszniewski, Wojciech |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Gawlinski, Pawel |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Laure-Kamionowska, Milena |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Alkuraya, Fowzan S |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Akleh, Hanah |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Stanley, Valentina |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Musaev, Damir |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Gleeson, Joseph G |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Zaki, Maha S |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Brunetti-Pierri, Nicola |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Cappuccio, Gerarda |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Davidov, Bella |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Basel-Salmon, Lina |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Bazak, Lily |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Shahar, Noa Ruhrman |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Bertoli-Avella, Aida |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Mirzaa, Ghayda M |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Dobyns, William B |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Pippucci, Tommaso |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Fornerod, Maarten |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Mancini, Grazia M S |
| 773 0# - HOST ITEM ENTRY | |
| Title | American journal of human genetics |
| Related parts | vol. 105 |
| -- | no. 4 |
| -- | p. 689-705 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1016/j.ajhg.2019.08.006">https://doi.org/10.1016/j.ajhg.2019.08.006</a> |
| Public note | Available from publisher's website |
No items available.