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Publications by Serge Amselem
Mutations in DNAH17, Encoding a Sperm-Specific Axonemal Outer Dynein Arm Heavy Chain, Cause Isolated Male Infertility Due to Asthenozoospermia
American Journal of Human Genetics
Genetics
Mutations in Outer Dynein Arm Heavy Chain DNAH9 Cause Motile Cilia Defects and Situs Inversus
American Journal of Human Genetics
Genetics
Lack of GAS2L2 Causes PCD by Impairing Cilia Orientation and Mucociliary Clearance
American Journal of Human Genetics
Genetics
Extreme Short Stature and Severe Neurological Impairment in a 17-Year-Old Male With Untreated Combined Pituitary Hormone Deficiency Due to POU1F1 Mutation
Frontiers in Endocrinology
Endocrinology
Metabolism
Diabetes
Clinical and Multi-Omics Cross-Phenotyping of Patients With Autoimmune and Autoinflammatory Diseases: The Observational TRANSIMMUNOM Protocol
BMJ Open
Medicine
Bi-Allelic Missense ABCA3 Mutations in a Patient With Childhood ILD Who Reached Adulthood
ERJ Open Research
Pulmonary
Respiratory Medicine
Role of IL-1b in NLRP12-associated Autoinflammatory Disorders and Resistance to Anti-Il-1 Therapy
Pediatric Rheumatology
Immunology
Pediatrics
Rheumatology
Allergy
Perinatology
Child Health
Involvement of the Modifier Gene of a Human Mendelian Disorder in a Negative Selection Process
PLoS ONE
Multidisciplinary
Matrix Metalloproteinase Gene Polymorphisms and Bronchopulmonary Dysplasia: Identification of MMP16 as a New Player in Lung Development
PLoS ONE
Multidisciplinary
