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Orphanet journal of rare diseases, ISSN 1750-1172, 2014, Volume 9, Issue 1, p. 207
Journal Article
Journal of Medical Genetics, ISSN 0022-2593, 11/2014, Volume 51, Issue 11, pp. 724 - 736
Journal Article
Human Molecular Genetics, ISSN 0964-6906, 12/2013, Volume 22, Issue 25, pp. 5121 - 5135
Journal Article
Human Mutation, ISSN 1059-7794, 03/2018, Volume 39, Issue 3, pp. 319 - 332
Journal Article
American Journal of Medical Genetics Part C: Seminars in Medical Genetics, ISSN 1552-4868, 12/2017, Volume 175, Issue 4, pp. 417 - 430
Journal Article
Human Mutation, ISSN 1059-7794, 10/2014, Volume 35, Issue 10, pp. 1221 - 1232
ABSTRACT Stormorken syndrome is a rare autosomal dominant disorder characterized by a phenotype that includes miosis, thrombocytopenia/thrombocytopathy with... 
calcium homeostasis | stromal interaction molecule 1 (STIM1) | Stormorken syndrome | miosis | tubular aggregate myopathy | Stromal interaction molecule 1 (STIM1) | Miosis | Tubular aggregate myopathy | Calcium homeostasis | BLEEDING TENDENCY | THROMBOCYTOPATHIA | ENTRY | HYPERORNITHINEMIA | tubular aggregate mypathy | PHOSPHOGLYCERATE MUTASE DEFICIENCY | MYOPATHY | GYRATE ATROPHY | HEREDITARY SYNDROME | SKELETAL-MUSCLE | GENETICS & HEREDITY | EXTREME MIOSIS | Calcium Channels - metabolism | Ichthyosis - metabolism | Calcium - metabolism | Dyslexia - metabolism | Humans | Middle Aged | Child, Preschool | Dyslexia - pathology | Endoplasmic Reticulum - metabolism | Infant | Male | Erythrocytes, Abnormal - metabolism | Neoplasm Proteins - metabolism | Endoplasmic Reticulum - ultrastructure | Migraine Disorders - metabolism | Ichthyosis - pathology | Miosis - genetics | Migraine Disorders - pathology | Ichthyosis - genetics | Adult | Female | Membrane Proteins - metabolism | Neoplasm Proteins - genetics | Spleen - pathology | Child | Infant, Newborn | Blood Platelet Disorders - genetics | Stromal Interaction Molecule 1 | Protein Structure, Secondary | Membrane Proteins - genetics | Neoplasm Proteins - chemistry | Spleen - abnormalities | Dyslexia - genetics | Point Mutation | Erythrocytes, Abnormal - pathology | Membrane Proteins - chemistry | Migraine Disorders - genetics | Spleen - metabolism | Miosis - pathology | Pedigree | Adolescent | Muscle Fibers, Skeletal - pathology | Muscle Fatigue - genetics | Aged | Miosis - metabolism | Blood Platelet Disorders - metabolism | Blood Platelet Disorders - pathology | Genetic research | Genetics | Genetic aspects | Medical examination | Blood | Medical research | Genotype & phenotype | Genetic disorders | Mutation
Journal Article
Human Mutation, ISSN 1059-7794, 10/2019, Volume 40, Issue 10, pp. 1713 - 1730
Ataxia‐telangiectasia (A‐T) is a recessive disorder caused by biallelic pathogenic variants of ataxia‐telangiectasia mutated (ATM). This disease is... 
checkpoint | phenotype | mutation | ataxia‐telangiectasia | ataxia‐telangiectasia mutated (ATM) | splice | Pathogenicity | Phosphorylation | Phenotypes | Radiosensitivity | Transcription | Genotoxicity | Lymphoblastoid cell lines | Classification | Ataxia | Lymphocytes T | Localization | Hereditary diseases
Journal Article
Journal of Medical Genetics, ISSN 0022-2593, 12/2012, Volume 49, Issue 12, pp. 737 - 746
Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 10/2017, Volume 173, Issue 10, pp. 2782 - 2788
Journal Article