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Publications by Effrosyni D. Manali
Bi-Allelic Missense ABCA3 Mutations in a Patient With Childhood ILD Who Reached Adulthood
ERJ Open Research
Pulmonary
Respiratory Medicine
Related publications
Bi-Allelic Loss-Of-Function CACNA1B Mutations in Progressive Epilepsy-Dyskinesia
American Journal of Human Genetics
Genetics
A novelWDR45mutation in a Patient With Static Encephalopathy of Childhood With Neurodegeneration in Adulthood (SENDA)
American Journal of Medical Genetics, Part A
Genetics
Bi-Allelic ADPRHL2 Mutations Cause Neurodegeneration With Developmental Delay, Ataxia, and Axonal Neuropathy
American Journal of Human Genetics
Genetics
Bi-Allelic Mutations in STXBP2 Reveal a Complementary Role for STXBP1 in Cytotoxic Lymphocyte Killing
Frontiers in Immunology
Allergy
Immunology
Bi-Allelic Mutations in LSS, Encoding Lanosterol Synthase, Cause Autosomal-Recessive Hypotrichosis Simplex
American Journal of Human Genetics
Genetics
Bi-Allelic Mutations in FAM149B1 Cause Abnormal Primary Cilium and a Range of Ciliopathy Phenotypes in Humans
American Journal of Human Genetics
Genetics
Identification and Functional Analysis of Missense Mutations in the Lecithin Cholesterol Acyltransferase Gene in a Chilean Patient With Hypoalphalipoproteinemia
Lipids in Health and Disease
Biochemistry
Endocrinology
Clinical Biochemistry
Metabolism
Diabetes
Missense Mutations in DYT-TOR1A Dystonia
Neurology: Genetics
Neurology
Genetics
Bi-Allelic CSF1R Mutations Cause Skeletal Dysplasia of Dysosteosclerosis-Pyle Disease Spectrum and Degenerative Encephalopathy With Brain Malformation
American Journal of Human Genetics
Genetics
