E Schaefer
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Explore the profile of E Schaefer including associated specialties, affiliations and a list of published articles.
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99
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1908
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Recent Articles
1.
Cif L, Cif L, Demailly D, Demailly D, Lin J, Lin J, et al.
ArXiv
. 2025 Feb;
PMID: 39990802
Heterozygous mutations in are associated with an early-onset, progressive and often complex dystonia (DYT28). Key characteristics of typical disease include focal motor features at disease presentation, evolving through a caudocranial...
2.
Armand T, Schaefer E, Di Rocco F, Edery P, Collet C, Rossi M
Neurochirurgie
. 2019 Oct;
65(5):196-201.
PMID: 31605683
Craniosynostosis (CS) is defined as the premature fusion of cranial sutures, leading to an abnormal skull shape. The overall incidence is between 1: 2,000 and 1: 3,000 live births. Genetic...
3.
Brischoux-Boucher E, Trimouille A, Baujat G, Goldenberg A, Schaefer E, Guichard B, et al.
Clin Genet
. 2018 Jun;
94(3-4):373-380.
PMID: 29926465
By describing 10 new patients recruited in centres for Human Genetics, we further delineate the clinical spectrum of a Crouzon-like craniosynostosis disorder, officially termed craniosynostosis and dental anomalies (MIM614188). Singularly,...
4.
Baer S, Afenjar A, Smol T, Piton A, Gerard B, Alembik Y, et al.
Clin Genet
. 2018 Mar;
94(1):141-152.
PMID: 29574747
Wiedemann-Steiner syndrome (WSS) is a rare syndromic condition in which intellectual disability (ID) is associated with hypertrichosis cubiti, short stature, and characteristic facies. Following the identification of the causative gene...
5.
Lehman N, Mazery A, Visier A, Baumann C, Lachesnais D, Capri Y, et al.
Clin Genet
. 2017 Mar;
92(3):298-305.
PMID: 28295206
Kabuki syndrome (KS-OMIM 147920) is a rare developmental disease characterized by the association of multiple congenital anomalies and intellectual disability. This study aimed to investigate intellectual performance in children with...
6.
Lefebvre M, Sanlaville D, Marle N, Thauvin-Robinet C, Gautier E, Chehadeh S, et al.
Clin Genet
. 2015 Nov;
89(5):630-5.
PMID: 26582393
Microarray-based comparative genomic hybridization (aCGH) is commonly used in diagnosing patients with intellectual disability (ID) with or without congenital malformation. Because aCGH interrogates with the whole genome, there is a...
7.
Schaefer E, Drexler H, Kiesel J
Gesundheitswesen
. 2015 Feb;
78(3):161-5.
PMID: 25704843
Purpose: The aim of this study was to gain insight into worksite health promotion in small and medium-sized companies compared to large concerns in Middle Franconia. Action in worksite health...
8.
Van de Louw A, Shaffer C, Schaefer E
Acta Anaesthesiol Scand
. 2014 Jul;
58(8):1007-14.
PMID: 25039806
Background: Intensive care unit (ICU)-acquired hypernatremia is associated with increased mortality and ascribed to excessive sodium/insufficient free water intakes. We aimed to determine whether the volume of intravenous 0.9% saline...
9.
Galsnapp A, Schaefer E
Int J Pharm Compd
. 2013 Aug;
4(4):276-9.
PMID: 23985393
No abstract available.
10.
Schaefer E, Lauer J, Durand M, Pelletier V, Obringer C, Claussmann A, et al.
Clin Genet
. 2013 May;
85(5):476-81.
PMID: 23692385
Ciliopathies are heterogeneous disorders sharing different clinical signs due to a defect at the level of the primary cilia/centrosome complex. Postaxial polydactyly is frequently reported in ciliopathies, especially in Bardet-Biedl...