Next-generation phenotyping using computer vision algorithms in rare genomic neurodevelopmental disorders. (Record no. 29180980)

MARC details
000 -LEADER
fixed length control field 02344 a2200649 4500
005 - DATE AND TIME OF LATEST TRANSACTION
control field 20250518013911.0
008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION
fixed length control field 202002s 0 0 eng d
022 ## - INTERNATIONAL STANDARD SERIAL NUMBER
International Standard Serial Number 1530-0366
024 7# - OTHER STANDARD IDENTIFIER
Standard number or code 10.1038/s41436-018-0404-y
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 van der Donk, Roos
264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE
Date of production, publication, distribution, manufacture, or copyright notice 20200206
245 00 - TITLE STATEMENT
Title Next-generation phenotyping using computer vision algorithms in rare genomic neurodevelopmental disorders.
Medium [electronic resource]
260 ## - PUBLICATION, DISTRIBUTION, ETC.
Name of publisher, distributor, etc. Genetics in medicine : official journal of the American College of Medical Genetics
Date of publication, distribution, etc. 08 2019
300 ## - PHYSICAL DESCRIPTION
Extent 1719-1725 p.
Other physical details digital
500 ## - GENERAL NOTE
General note Publication Type: Journal Article; 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 diagnosis
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 Algorithms
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 Chromosomes, Human, Pair 17
General subdivision genetics
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Craniofacial Abnormalities
General subdivision diagnosis
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Facial Recognition
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 Genomics
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 Image Processing, Computer-Assisted
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Infant
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Intellectual Disability
General subdivision diagnosis
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Intracellular Signaling Peptides and Proteins
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 Middle Aged
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Muscular Atrophy
General subdivision diagnosis
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Musculoskeletal Abnormalities
General subdivision diagnosis
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 Neurodevelopmental Disorders
General subdivision diagnosis
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 Protein Phosphatase 2C
General subdivision genetics
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Vesicular Transport Proteins
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 Jansen, Sandra
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Schuurs-Hoeijmakers, Janneke H M
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Koolen, David A
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Goltstein, Lia C M J
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Hoischen, Alexander
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Brunner, Han G
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Kemmeren, Patrick
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Nellåker, Christoffer
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Vissers, Lisenka E L M
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name de Vries, Bert B A
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Hehir-Kwa, Jayne Y
773 0# - HOST ITEM ENTRY
Title Genetics in medicine : official journal of the American College of Medical Genetics
Related parts vol. 21
-- no. 8
-- p. 1719-1725
856 40 - ELECTRONIC LOCATION AND ACCESS
Uniform Resource Identifier <a href="https://doi.org/10.1038/s41436-018-0404-y">https://doi.org/10.1038/s41436-018-0404-y</a>
Public note Available from publisher's website

No items available.