Paul A Mulder
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Explore the profile of Paul A Mulder including associated specialties, affiliations and a list of published articles.
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Articles
6
Citations
263
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Recent Articles
1.
Krab L, Marcos-Alcalde I, Assaf M, Balasubramanian M, Andersen J, Bisgaard A, et al.
Hum Genet
. 2020 Mar;
139(5):575-592.
PMID: 32193685
RAD21 encodes a key component of the cohesin complex, and variants in RAD21 have been associated with Cornelia de Lange Syndrome (CdLS). Limited information on phenotypes attributable to RAD21 variants...
2.
Mulder P, Huisman S, Landlust A, Moss J, Piening S, Hennekam R, et al.
J Child Psychol Psychiatry
. 2018 Oct;
60(3):305-313.
PMID: 30295920
Introduction: Development and behaviour in Cornelia de Lange Syndrome (CdLS), including autism characteristics, have been described infrequently stratified to genetic cause and only a few studies have considered behavioural characteristics...
3.
Kline A, Moss J, Selicorni A, Bisgaard A, Deardorff M, Gillett P, et al.
Nat Rev Genet
. 2018 Jul;
19(10):649-666.
PMID: 29995837
Cornelia de Lange syndrome (CdLS) is an archetypical genetic syndrome that is characterized by intellectual disability, well-defined facial features, upper limb anomalies and atypical growth, among numerous other signs and...
4.
Priolo M, Schanze D, Tatton-Brown K, Mulder P, Tenorio J, Kooblall K, et al.
Hum Mutat
. 2018 Jun;
39(9):1226-1237.
PMID: 29897170
Malan syndrome is an overgrowth disorder described in a limited number of individuals. We aim to delineate the entity by studying a large group of affected individuals. We gathered data...
5.
Huisman S, Mulder P, Redeker E, Bader I, Bisgaard A, Brooks A, et al.
Am J Med Genet A
. 2017 May;
173(8):2108-2125.
PMID: 28548707
SMC1A encodes one of the proteins of the cohesin complex. SMC1A variants are known to cause a phenotype resembling Cornelia de Lange syndrome (CdLS). Exome sequencing has allowed recognizing SMC1A...
6.
Mulder P, Huisman S, Hennekam R, Oliver C, van Balkom I, Piening S
Dev Med Child Neurol
. 2016 Dec;
59(4):361-366.
PMID: 27988966
Aim: Careful study and accurate description of behaviour are important to understand developmental challenges for individuals with Cornelia de Lange syndrome (CdLS). Here we present a systematic review of current...