Genetic and phenotypic dissection of 1q43q44 microdeletion syndrome and neurodevelopmental phenotypes associated with mutations in ZBTB18 and HNRNPU. (Record no. 26958894)
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fixed length control field | 03077 a2201009 4500 |
005 - DATE AND TIME OF LATEST TRANSACTION | |
control field | 20250517142952.0 |
008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
fixed length control field | 201706s 0 0 eng d |
022 ## - INTERNATIONAL STANDARD SERIAL NUMBER | |
International Standard Serial Number | 1432-1203 |
024 7# - OTHER STANDARD IDENTIFIER | |
Standard number or code | 10.1007/s00439-017-1772-0 |
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 | Depienne, Christel |
264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
Date of production, publication, distribution, manufacture, or copyright notice | 20170620 |
245 00 - TITLE STATEMENT | |
Title | Genetic and phenotypic dissection of 1q43q44 microdeletion syndrome and neurodevelopmental phenotypes associated with mutations in ZBTB18 and HNRNPU. |
Medium | [electronic resource] |
260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
Name of publisher, distributor, etc. | Human genetics |
Date of publication, distribution, etc. | 04 2017 |
300 ## - PHYSICAL DESCRIPTION | |
Extent | 463-479 p. |
Other physical details | digital |
500 ## - GENERAL NOTE | |
General note | Publication Type: Journal Article |
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 | Chromosomes, Human, Pair 1 |
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
Topical term or geographic name entry element | Heterogeneous-Nuclear Ribonucleoproteins |
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 | Mutation |
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 | Phenotype |
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
Topical term or geographic name entry element | Repressor Proteins |
General subdivision | genetics |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Nava, Caroline |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Keren, Boris |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Heide, Solveig |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Rastetter, Agnès |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Passemard, Sandrine |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Chantot-Bastaraud, Sandra |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Moutard, Marie-Laure |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Agrawal, Pankaj B |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | VanNoy, Grace |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Stoler, Joan M |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Amor, David J |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Billette de Villemeur, Thierry |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Doummar, Diane |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Alby, Caroline |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Cormier-Daire, Valérie |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Garel, Catherine |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Marzin, Pauline |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Scheidecker, Sophie |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | de Saint-Martin, Anne |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Hirsch, Edouard |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Korff, Christian |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Bottani, Armand |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Faivre, Laurence |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Verloes, Alain |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Orzechowski, Christine |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Burglen, Lydie |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Leheup, Bruno |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Roume, Joelle |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Andrieux, Joris |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Sheth, Frenny |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Datar, Chaitanya |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Parker, Michael J |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Pasquier, Laurent |
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Personal name | Odent, Sylvie |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Naudion, Sophie |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Delrue, Marie-Ange |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Le Caignec, Cédric |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Vincent, Marie |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Isidor, Bertrand |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Renaldo, Florence |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Stewart, Fiona |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Toutain, Annick |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Koehler, Udo |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Häckl, Birgit |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | von Stülpnagel, Celina |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Kluger, Gerhard |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Møller, Rikke S |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Pal, Deb |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Jonson, Tord |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Soller, Maria |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Verbeek, Nienke E |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | van Haelst, Mieke M |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | de Kovel, Carolien |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Koeleman, Bobby |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Monroe, Glen |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | van Haaften, Gijs |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Attié-Bitach, Tania |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Boutaud, Lucile |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Héron, Delphine |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Mignot, Cyril |
773 0# - HOST ITEM ENTRY | |
Title | Human genetics |
Related parts | vol. 136 |
-- | no. 4 |
-- | p. 463-479 |
856 40 - ELECTRONIC LOCATION AND ACCESS | |
Uniform Resource Identifier | <a href="https://doi.org/10.1007/s00439-017-1772-0">https://doi.org/10.1007/s00439-017-1772-0</a> |
Public note | Available from publisher's website |
No items available.