The Division for Development and Public Relations
ASSOCIATE PROFESSOR OF HUMAN GENETICS
Birth place :
GENETICS AND METABOLIC DISEASES
FACULTY OF MEDICINE
Univ. of Paris XI (Faculty of Medicine, Kremlin, Bic?tre)
Diagnosis of rare diseases: dysmorphology. Lysosomal storage disorders:
diagnosis and treatment (Mucolipidosis type II and III, Fabry disease,
Mucolipidosis III: determination of the clinical phenotype.
Behavioral aspects of patients affected with Fabry disease.
Bone dysplasia: SMED with calcifications are due to DDR2.
Fabry disease and G6PD in three family members with priapism: Is
Phenotypic variability in 49 cases with ESCO2 mutations,
Mutations in the mitochondrial glutamate carrier SLC25A22 in
The clinical spectrum of fetal Niemann-Pick type C.
The 8q22.1 microdeletion syndrome or Nablus mask-like facial
Mutations in DDR2 gene cause SMED with short limbs and abnormal
P35S mutation in the NOG gene associated with Teunissen-Cremers
The H syndrome: A genodermatosis characterized by indurated,
The molecular mechanism underlying Roberts syndrome involves
Angiokeratoma corporis diffusum in human beta-mannosidosis:
Molecular epidemiology of hereditary epidermolysis bullosa in a
TAT gene mutation analysis in three Palestinian kindreds with
Hereditary lymphedema type I associated with VEGFR3 mutation:
The heart of children with steroid-resistant nephrotic syndrome:
When Mucolipidosis III meets Mucolipidosis II: GNPTA gene
Microphthalmia with linear skin defects (MLS) syndrome:
Further delineation of Kabuki syndrome in 48 well-defined new
Impaired mitochondrial glutamate transport in autosomal
TBX5 genetic testing validates strict clinical criteria for
Mucolipidosis II is caused by mutations in GNPTA encoding the
A form of Jansen's metaphyseal chondrodysplasia with limited
Genomic organization of the UDP-N-Acetylglucosamine-1-phospho-
Null leukemia inhibitory factor receptor (LIFR) mutations in
A novel mutation in UDP-N-acetylglucosamine-1-phosphotransferase
Glycosphingolipidoses: Beyond the enzymatic defect.
Cardiovascular abnormalities associated with the Stuve-Wiedemann
Early peripheral nervous system manifestations of infantile
Mucolipidosis III type C: First-trimester biochemical and
Family with inflammatory demyelinating polyneuropathy and the
Hypocarnitinemia in lysinuric protein intolerance.
Genetic testing for hearing impairment: Different motivations
A PEX6-defective peroxisomal biogenesis disorder with severe
Rhabdomyoma in the fetus: Illustration of tumor growth during
MPDU1 mutations underlie a novel human congenital disorder of
Mucolipidosis type IV: Novel mutations in Jewish and non-Jewish
Ultrasonographic prenatal diagnosis of microcephalic
Identification of the gene causing Mucolipidosis type IV.
The contribution of connexin 26 mutations to non syndromic
Agenesis of tibia with ectrodactyly/Gollop-Wolfgang complex
Mucolipidosis type IV: The origin of the disease in the
© All rights reserved to The Hebrew University of Jerusalem