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Wrinkly skin syndrome
WO 2015/048577 A2 April 2015 (02.04.2015) W P O P C T
Metabolic Cutis Laxa Syndromes
Discriminative Features in Three Autosomal Recessive Cutis Laxa Syndromes: Cutis Laxa IIA, Cutis Laxa IIB, and Geroderma Osteoplastica
Blueprint Genetics Congenital Disorders of Glycosylation Panel
Global Journal of Medical Research: K I Nterdisciplinary
Congenital Disorders of Glycosylation Precision Panel Overview
ATP6V0A2 Gene Atpase H+ Transporting V0 Subunit A2
Hereditary Disorders of Connective Tissue: a Guide to the Emerging Differential Diagnosis Maureen Murphy-Ryan, BS1, Apostolos Psychogios, MD2, and Noralane M
Congenital Cutis Laxa
IMMUNE FUNCTION in ATP6V0A2-RELATED CUTIS LAXA by Michelle Morrow BS, the Ohio State University, 1992 Phd, Northwestern Universi
Genetic Molecular Basis of Cutis Laxa and Surgical Management
A Case of Gerodermia Osteodysplastica Diagnosed by Recurrent Pathologic Fractures
Autosomal Recessive Cutis Laxa Syndrome Revisited
IMEMR Current Contents March 2007 Vol.6 No.1
CHRONIC LUNG DISEASE in CUTIS LAXA by Rachel Ellen Westman BS
Mutation in Pyrroline-5-Carboxylate Reductase 1 Gene in Families with Cutis Laxa Type 2
Defect in Proline Synthesis: Pyrroline-5-Carboxylate Reductase 1 Deficiency Leads to a Complex Clinical Phenotype with Collagen and Elastin Abnormalities
Prevalence and Incidence of Rare Diseases: Bibliographic Data
Top View
Prevalence and Incidence of Rare Diseases
Cutis Laxa Precision Panel Overview Indications Clinical Utility
Investigation of the Genetical Basis of Autosomal Recessive Cutis Laxa
Maidmentmscthesis.Pdf (3.215Mb)
Cutis Laxa Syndrome: a Rare Genetic Disorder of Elastolysis Md
R J M E ASE EPORT Romanian Journal of C R Morphology & Embryology
Further Characterization of ATP6V0A2-Related Autosomal Recessive Cutis Laxa
Golgi Glycosylation and Human Inherited Diseases