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Publications by Junaid Shabbeer
Fabry Disease: Twenty Novel Α-Galactosidase a Mutations and Genotype-Phenotype Correlations in Classical and Variant Phenotypes
Molecular Medicine
Molecular Medicine
Genetics
Molecular Biology
Related publications
Fabry Disease: Twenty Novel Α-Galactosidase a Mutations Causing the Classical Phenotype
Journal of Human Genetics
Genetics
Α-Galactosidase a Genotype N215S Induces a Specific Cardiac Variant of Fabry DiseaseCLINICAL PERSPECTIVE
Circulation: Cardiovascular Genetics
Novel Genotype-Phenotype and MRI Correlations in a Large Cohort of Patients With SPG7 Mutations
Neurology: Genetics
Neurology
Genetics
Alpha-Galactosidase a p.A143T, a Non-Fabry Disease-Causing Variant
Orphanet Journal of Rare Diseases
Medicine
Genetics
Pharmacology
Adipocytes Participate in Storage in Α-Galactosidase Deficiency (Fabry Disease)
Journal of Inherited Metabolic Disease
Genetics
Genotype-Phenotype Correlations in PCD Patients Carrying DNAH5 Mutations
Thorax
Pulmonary
Respiratory Medicine
Novel Α-Galactosidase a Mutation (K391E) in a Young Woman With Severe Cardiac and Renal Manifestations of Fabry Disease
International Heart Journal
Medicine
Cardiovascular Medicine
Cardiology
Receptor-Mediated Endocytosis of Α-Galactosidase a in Human Podocytes in Fabry Disease
PLoS ONE
Multidisciplinary
Point Mutations in Ferroportin Disease: Genotype/Phenotype Correlation
