S. Unger

Discipline

Anthropologie biologique (4) Psychologie (3) Linguistique (1)

Discipline

Sciences de l'information et de la communication (2)

Type de document

Articles (28) Recensions (9)

Type de document

Recensions (3) Colloques et conférences (2) Autres (1)

Co-auteur

Auteur

Date

Date

Source

Source

Mot-clé

Human beings (15) Patients (13) Patients (13) gène (12) maladie (12) mutation (11) maladie (11) Analysis (11) Mutation (11) analyse (10) Phenotype (10) Dysplasia (9) Families (9) Bone (9) protéine (8) roman (8) Diagnosis (7) Genes (7) Stature, Short (7) Diagnosis (7) ADN (6) Development (6) Diseases (6) DNA (6) Cells (6) Management (6) enfant (5) Defects (5) Diseases (5) Skin (5)

Mot-clé

projet (2) abords (agglomération) (2) Social sciences (2)

Documents écrit par S. Unger (28) | parle de S. Unger (6)

Nosology of genetic skeletal disorders: 2023 revision.
S. Unger et al.
Diagnostic génétique moléculaire des enfants implantés cochléaires en Suisse romande [Molecular genetic diagnosis in children with cochlear implants in the Western french speaking part of Switzerland]
S. Fries et al. (5 oct. 2022)
Syndrome des télomères courts chez l’adulte : une entité rare qu’il faut savoir évoquer [Short telomere syndrome in adults: a rare entity that should be evoked]
A. Coukos et al. (31 août 2022)
Analysis of missense variants in the human genome reveals widespread gene-specific clustering and improves prediction of pathogenicity.
M. Quinodoz et al. (3 mars 2022)
Osteogenesis imperfecta: towards an individualised interdisciplinary care strategy to improve physical activity and quality of life.
B. Aubry-Rozier et al. (28 juin 2020)
Primrose syndrome: Characterization of the phenotype in 42 patients.
D. Melis et al.
Combined Lung and Liver Transplantation for Short Telomere Syndrome.
E. Moschouri et al.
The Connective Tissue Disorder Associated with Recessive Variants in the SLC39A13 Zinc Transporter Gene (Spondylo-Dysplastic Ehlers-Danlos Syndrome Type 3): Insights from Four Novel Patients and Follow-Up on Two Original Cases.
C. Kumps et al. (14 avr. 2020)
CSGALNACT1-congenital disorder of glycosylation: A mild skeletal dysplasia with advanced bone age.
S. Mizumoto et al.
Votre analyse : avec ou sans conseil génétique ? []
M. Met-Domestici et al. (19 févr. 2020)
The Liberfarb syndrome, a multisystem disorder affecting eye, ear, bone, and brain development, is caused by a founder pathogenic variant in thePISD gene.
V.G. Peter et al.
Severe Peripheral Joint Laxity is a Distinctive Clinical Feature of Spondylodysplastic-Ehlers-Danlos Syndrome (EDS)-B4GALT7 and Spondylodysplastic-EDS-B3GALT6.
S.G. Caraffi et al. (12 oct. 2019)
ABC des polypes coliques [Abecedary of colonic polyps]
P. Archanioti et al. (28 août 2019)
Syndrome d’Alagille [Alagille Syndrome]
J. Wakim El-Khoury et al. (28 août 2019)
Hypomorphic mutations of TRIP11 cause odontochondrodysplasia.
A. Wehrle et al. (7 févr. 2019)
TRAIL-R1 and TRAIL-R2 Mediate TRAIL-Dependent Apoptosis in Activated Primary Human B Lymphocytes.
J. Staniek et al. (2019)
CMG2/ANTXR2 regulates extracellular collagen VI which accumulates in hyaline fibromatosis syndrome.
J. Bürgi et al. (12 juin 2017)
Loss-of-function mutations in the X-linked biglycan gene cause a severe syndromic form of thoracic aortic aneurysms and dissections.
J.A. Meester et al.
Current Care and Investigational Therapies in Achondroplasia.
S. Unger et al.
Mutations in the heat-shock protein A9 (HSPA9) gene cause the EVEN-PLUS syndrome of congenital malformations and skeletal dysplasia.
B. Royer-Bertrand et al. (2015)
Further delineation of the KAT6B molecular and phenotypic spectrum.
T. Gannon et al. (2015)
Comprehensive clinical and molecular analysis of 12 families with type 1 recessive cutis laxa.
B. Callewaert et al. (2013)
Pseudoachondroplasia and multiple epiphyseal dysplasia: a 7-year comprehensive analysis of the known disease genes identify novel and recurrent mutations and provides an accurate assessment of their relative contribution.
G.C. Jackson et al. (2012)
Nosology and classification of genetic skeletal disorders: 2010 revision.
M.L. Warman et al. (2011)
Molecular screening of ADAMTSL2 gene in 33 patients reveals the genetic heterogeneity of geleophysic dysplasia.
S. Allali et al. (2011)

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W. S. Unger, De Archieven der Gewestelijke Besturen van Zetland, 1799-1810, 1956
Louis Trenard (1959)
De oudste reizen van de Zeeuwen naar Oost-Indië (1598-1604), éd. W. S. Unger
Charles Verlinden (1951)
Mrs Z. W. Sneller et W. S. Unger, Bronnen tot de geschiedenis van den handel met Frankrijk
Émile Cornaert (1932)
Z. W. Sneller et W. S. Unger. Bronnen tôt de geschiedenis van den handel met Frankrijk, t. I, 753-1585
Henri Sée (1930)