Y. Hilhorst-Hofstee

Type de document

Co-auteur

H. Van Esch

S. Unger

A.C. Tsai

E.C. Thorland

J. Tepperberg

A. Superti-Furga

N.B. Spinner

A.H. Serrano

R. Rupps

C.A. Ruivenkamp

J. Rosenfeld

A. Patel

R. Pasion

S. Mulchandani

L. Medne

M. McGuire

M.T. McDonald

T.B. Mason

D. Martinet

C. Marcelis

C. Kumps

I.D. Krantz

M. Kraenzlin

D. Ho

J. Goldstein

N. Fleischer

C. DeScipio

L. Conlin

D. Clark

B. Campos-Xavier

S. Aradhya

M.C. Addor

Date

Source

Serveur académique Lausannois (2)

Mot-clé

gène (2) enfant (2) Human beings (2) zinc (1) nourisson (1) tissu (corporel) (1) temps (durée) (1) test (1) technologie (1) peau (1) région (1) mutation (1) cartographie (cartes) (1) information (1) histoire (1) analyse (1) discours (1) cation (1) adulte (1) abords (agglomération) (1) jeune (1) Diagnosis (1) Deletion (1) History (1) Accidents (1) Cases (1) Keratoconus (1) Telomere (1) Genes (1) Zinc (1)

Documents écrit par Y. Hilhorst-Hofstee (2) | parle de Y. Hilhorst-Hofstee (0)

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)

Subtelomeric deletion of chromosome 10p15.3: clinical findings and molecular cytogenetic characterization.

C. DeScipio et al. (2012)