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Transfusion, ISSN 0041-1132, 07/2019, Volume 59, Issue 7, pp. 2228 - 2233
FactorX (FX) deficiency (FXD) is an extremely rare autosomal recessive hereditary hematologic disorder, affecting approximately one in 1,000,000 of the general... 
Tranexamic acid | Coagulation factors | Genetic analysis | Coagulation | Prothrombin | Hemorrhage | Patients | Bleeding | Hereditary diseases
Journal Article
Journal of Clinical Investigation, ISSN 0021-9738, 03/2019, Volume 129, Issue 3, pp. 1229 - 1239
BACKGROUND. Sphingolipids are important components of cellular membranes and functionally associated with fundamental processes such as cell differentiation,... 
MEDICINE, RESEARCH & EXPERIMENTAL | PHYSIOLOGY | DESATURASE | CERAMIDES | RECEPTOR | MUTATIONS | EPILEPSY | IDENTIFICATION | DEFICIENCY | Cytochrome | Epilepsy | Lipids | Nervous system | Biosynthesis | Sphingolipids | Kinases | Defects | Neurotoxicity | Convulsions & seizures | Enzymatic activity | Ceramide | Fibroblasts | Degeneration | Paralysis | Lipid metabolism | Age | CRISPR | Enzymes | Congenital diseases | Myelin | Cell membranes | Metabolism | Ostomy | Biopsy | Mutation
Journal Article
CLINICAL EPIGENETICS, ISSN 1868-7083, 02/2019, Volume 11, Issue 1, pp. 30 - 6
Journal Article
Journal of Medical Genetics, ISSN 0022-2593, 07/2018, Volume 55, Issue 7, pp. 497 - 504
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
Klinische Pädiatrie, ISSN 0300-8630, 05/2018, Volume 230, Issue 3, pp. 151 - 159
Zusammenfassung Die vorliegenden Empfehlungen der internationalen Beckwith-Wiedemann-Syndrom (BWS/BWSp)-Konsensus-Gruppe stellen einen Rahmen für die... 
Diagnostic and Treatment Recommendation
Journal Article
European Journal of Medical Genetics, ISSN 1769-7212, 07/2019, Volume 62, Issue 7, p. 103671
The growth factor binding protein 10 ( ) has been suggested as a candidate gene for Silver-Russell syndrome because of its localization in 7p12, its imprinting... 
GRB10 | Deletion | Copy number variation | Growth | Imprinting | Silver-Russell syndrome | ALLELE | DISRUPTION | GENETICS & HEREDITY | INCLUDING GRB10 | DUPLICATION
Journal Article
Medical Radiology, ISSN 0942-5373, 2018, pp. 181 - 194
Journal Article
Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 05/2015, Volume 167, Issue 5, pp. 1121 - 1124
Journal Article