Further delineation of Malan syndrome. (Record no. 28524975)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 03364 a2201105 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250517222724.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 201907s 0 0 eng d |
| 022 ## - INTERNATIONAL STANDARD SERIAL NUMBER | |
| International Standard Serial Number | 1098-1004 |
| 024 7# - OTHER STANDARD IDENTIFIER | |
| Standard number or code | 10.1002/humu.23563 |
| 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 | Priolo, Manuela |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20190726 |
| 245 00 - TITLE STATEMENT | |
| Title | Further delineation of Malan syndrome. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | Human mutation |
| Date of publication, distribution, etc. | 09 2018 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 1226-1237 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 | Abnormalities, Multiple |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Adolescent |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Adult |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Bone Diseases, Developmental |
| General subdivision | genetics |
| 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 | Child, Preschool |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Chromosome Deletion |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Congenital Hypothyroidism |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Craniofacial Abnormalities |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Developmental Disabilities |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Exons |
| General subdivision | genetics |
| 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 | Hand Deformities, Congenital |
| General subdivision | genetics |
| 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 | Intellectual Disability |
| General subdivision | genetics |
| 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 | Megalencephaly |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Mutation, Missense |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | NFI Transcription Factors |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Phenotype |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Septo-Optic Dysplasia |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Sotos Syndrome |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Young Adult |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Schanze, Denny |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Tatton-Brown, Katrin |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Mulder, Paul A |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Tenorio, Jair |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Kooblall, Kreepa |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Acero, Inés Hernández |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Alkuraya, Fowzan S |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Arias, Pedro |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Bernardini, Laura |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Bijlsma, Emilia K |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Cole, Trevor |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Coubes, Christine |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Dapia, Irene |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Davies, Sally |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Di Donato, Nataliya |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Elcioglu, Nursel H |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Fahrner, Jill A |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Foster, Alison |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | González, Noelia García |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Huber, Ilka |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Iascone, Maria |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Kaiser, Ann-Sophie |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Kamath, Arveen |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Liebelt, Jan |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Lynch, Sally Ann |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Maas, Saskia M |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Mammì, Corrado |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Mathijssen, Inge B |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | McKee, Shane |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Menke, Leonie A |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Mirzaa, Ghayda M |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Montgomery, Tara |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Neubauer, Dorothee |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Neumann, Thomas E |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Pintomalli, Letizia |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Pisanti, Maria Antonietta |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Plomp, Astrid S |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Price, Sue |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Salter, Claire |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Santos-Simarro, Fernando |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Sarda, Pierre |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Segovia, Mabel |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Shaw-Smith, Charles |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Smithson, Sarah |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Suri, Mohnish |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Valdez, Rita Maria |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Van Haeringen, Arie |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Van Hagen, Johanna M |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Zollino, Marcela |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Lapunzina, Pablo |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Thakker, Rajesh V |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Zenker, Martin |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Hennekam, Raoul C |
| 773 0# - HOST ITEM ENTRY | |
| Title | Human mutation |
| Related parts | vol. 39 |
| -- | no. 9 |
| -- | p. 1226-1237 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1002/humu.23563">https://doi.org/10.1002/humu.23563</a> |
| Public note | Available from publisher's website |
No items available.