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De Barsy syndrome
Genes in Eyecare Geneseyedoc 3 W.M
Early ACCESS Diagnosed Conditions List
Outcomes of 4 Years of Molecular Genetic Diagnosis on a Panel Of
Download CGT Exome V2.0
Étude Rétrospective Portant Sur 4 Ans De Diagnostic Moléculaire Dans Le Cadre De Syndromes D’Origine Génétique Avec Vieillissement Prématuré Maude Grelet
Mutations in Pycrl Cause Cutis Laxa with Progeroid Features Genetics
Clinical and Biochemical Features Guiding the Diagnostics in Neurometabolic Cutis Laxa
Prevalence of Rare Diseases: Bibliographic Data
P-00814 (12/2020) 4
ORPHA Number Disease Or Group of Diseases 300305 11P15.4
Topics Symposia
Expanding the Spectrum of Neurological Manifestations in Cutis
Severe Congenital Cutis Laxa with Cardiovascular Manifestations Due to Homozygous Deletions in ALDH18A1
Damaged Mitochondria in Fanconi Anemia – an Isolated Event Or a General Phenomenon?
Autosomal Recessive Cutis Laxa Syndrome Revisited
Clinical Genetics (0141) 1.78
Progeroid Syndrome with Mitral Regurgitation: a Rare Case Report
Analyses of LMNA-Negative Juvenile Progeroid Cases Confirms Biallelic
Top View
Type 1 Established Condition List
The Role of Pycr1 in the Pathomechanism of Autosomal Recessive Cutis Laxa
Prevalence and Incidence of Rare Diseases: Bibliographic Data
Leistungsverzeichnis Der Sektion Pädiatrische Genetik Der Universitätskinderklinik Freiburg, Mathildenstr
Prevalence and Incidence of Rare Diseases
List of Rare Diseases and Synonyms
Investigation of the Genetical Basis of Autosomal Recessive Cutis Laxa
Abstract Book 2015
Severe Phenotype of De Barsy Syndrome in Two Siblings With
Extracellular Matrix in Development and Disease