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- European Journal of Human Genetics 25
- Clinical Genetics 19
- Human Mutation 18
- European Journal of Medical Genetics 16
- American Journal of Human Genetics 14
- Genetics in Medicine 14
- Journal of Medical Genetics 14
- American Journal of Medical Genetics Part A 10
- Human Genetics 9
- PLoS ONE 9
- American Journal of Medical Genetics Part C: Seminars in Medical Genetics 7
- Prenatal Diagnosis 6
- Human Molecular Genetics 5
- Brain - A Journal of Neurology 4
- BMC Genomics 3
- Clinics and Research in Hepatology and Gastroenterology 3
- Journal of Cell Science 3
- Journal of Clinical Endocrinology and Metabolism 3
- Molecular Syndromology 3
- Annals of Neurology 2
- Biology of the Cell 2
- Developmental Dynamics 2
- EMBO Journal 2
- Frontiers in Cell and Developmental Biology 2
- Frontiers in Genetics 2
- Frontiers in Neuroanatomy 2
- Journal of Biological Chemistry 2
- Journal of Inherited Metabolic Disease 2
- Leukemia Research 2
- Molecular Genetics and Metabolism 2
- Molecular Genetics and Metabolism Reports 2
- Molecular and Cellular Biology 2
- Morphologie 2
- Nature 2
- Nature Genetics 2
- Neural Development 2
- Neuromuscular Disorders 2
- Orphanet Journal of Rare Diseases 2
- Science Advances 2
- Scientific Reports 2
- Acta Neuropathologica 1
- Acta Neuropathologica Communications 1
- American Journal of Medical Genetics Part B: Neuropsychiatric Genetics 1
- American Journal of Medical Genetics Part C Seminar in Medical Genetics 1
- Amyloid: The Journal of Protein Folding Disorders 1
- Applied Neuropsychology: Adult 1
- Archives de Pédiatrie 1
- Archives of General Psychiatry 1
- Archives of Neurology -Chigago- 1
- Archives of cardiovascular diseases 1
- Arthritis & rheumatology 1
- BMC Bioinformatics 1
- BMC Health Services Research 1
- BMC Medical Informatics and Decision Making 1
- BMC Molecular Biology 1
- BioMetals 1
- Biochimica et Biophysica Acta - Molecular Cell Research 1
- Biological Psychiatry 1
- Blood Cells, Molecules and Diseases 1
- British Journal of Cancer 1
- British Journal of Haematology 1
- Cell Reports 1
- Chromosome Research 1
- Circulation: Genomic and Precision Medicine 1
- Clinical Cancer Research 1
- Clinical Case Reports 1
- Clinical Epigenetics 1
- Clinical Lung Cancer 1
- Clinical and Experimental Dental Research 1
- Current Opinion in Genetics and Development 1
- Cytogenetic and Genome Research 1
- Developmental Biology 1
- Disease Models & Mechanisms 1
- EBioMedicine 1
- EMBO Reports 1
- Epilepsia 1
- Epilepsy & Behavior 1
- Eur J Cell Biol 1
- European Heart Journal 1
- Familial Cancer 1
- Fundamental & Clinical Pharmacology 1
- Gastroenterology 1
- Gene 1
- Genes, Chromosomes & Cancer 1
- Genome Research 1
- Gynécologie Obstétrique & Fertilité 1
- Haematologica 1
- Hepatology 1
- International Journal of Clinical Oncology 1
- Joint Bone Spine 1
- Journal of Assisted Reproduction and Genetics 1
- Journal of Clinical Investigation 1
- Journal of Clinical Medicine 1
- Journal of Hepatology 1
- Journal of Immunotherapy 1
- Journal of Investigative Dermatology 1
- Journal of Maternal-Fetal & Neonatal Medicine 1
- Journal of Neuro-Oncology 1
- Journal of Neuroimmunology 1
- Journal of Ovarian Research 1
- Journal of Pediatric Gastroenterology and Nutrition 1
- Journal of Proteomics 1
- Maturitas 1
- Mechanisms of Development 1
- Medical Hypotheses 1
- Medical Teacher 1
- Mol Syndromol 1
- Molecular Oral Microbiology 1
- Médecine/Sciences 1
- Nature Communications 1
- Neurochirurgie 1
- Neurology Genetics 1
- Oncotarget 1
- Ophthalmic Genetics 1
- Ophthalmology: Journal of The American Academy of Ophthalmology 1
- Osteoporosis International 1
- PLoS Biology 1
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- Pathologie Biologie 1
- Pediatric Blood and Cancer 1
- Pediatric Dermatology 1
- Pediatric and developmental pathology 1
- Pharmaceuticals 1
- Proceedings of the National Academy of Sciences of the United States of America 1
- Périnatalité 1
- Revue des Maladies Respiratoires 1
- Revue du Praticien (La) 1
- The Crispr Journal 1
- The Journal of Pediatrics 1
- eLife 1