Amanote Research
Register
Sign In
Discover open access scientific publications
Search, annotate, share and cite publications
Publications by J.-F. Schved
Homozygous Mutation of the 5'UTR Region of the L-Ferritin Gene in the Hereditary Hyperferritinemia Cataract Syndrome and Its Impact on the Phenotype
Haematologica
Hematology
Functional Regulatory T Cells Are Collected in Stem Cell Autografts by Mobilization With High-Dose Cyclophosphamide and Granulocyte Colony-Stimulating Factor.
Journal of Immunology
Allergy
Immunology
Related publications
On the Hyperferritinemia and Hereditary Cataract Syndrome
Open Journal of Blood Diseases
Characterization of a Family Mutation in the 5’ Untranslated Region of the Endoglin Gene Causative of Hereditary Hemorrhagic Telangiectasia
Journal of Human Genetics
Genetics
A Novel Homozygous Mutation in the WNK1/HSN2 Gene Causing Hereditary Sensory Neuropathy Type 2.
Acta Biochimica Polonica
Biochemistry
Genetics
Molecular Biology
The Effects of an Insertion in the 5′UTR of the AMCase on Gene Expression and Pulmonary Functions
Respiratory Medicine
Pulmonary
Respiratory Medicine
Potential Intra- And Intermolecular Interactions Involving the Unique-5′ Region of the HIV-1 5′-Utr†
Biochemistry
Biochemistry
A Novel Homozygous Truncating Mutation in LAMB2 Gene in a Chinese Uyghur Patient With Severe Phenotype Pierson Syndrome
Frontiers in Medicine
Medicine
Homozygous R396H Mutation of the RAG1 Gene in a Saudi Infant With Omenn's Syndrome: A Case Report
Cases Journal
4H Leukodystrophy Caused by a Homozygous POLR3B Mutation: Further Delineation of the Phenotype
American Journal of Medical Genetics, Part A
Genetics
SMAD4 Mutation and the Combined Syndrome of Juvenile Polyposis Syndrome and Hereditary Haemorrhagic Telangiectasia
Thorax
Pulmonary
Respiratory Medicine
