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JOURNAL OF THROMBOSIS AND HAEMOSTASIS, ISSN 1538-7933, 07/2015, Volume 13, Issue 7, pp. 1184 - 1195
HemophiliaB is an X-chromosome-linked inherited bleeding disorder primarily affecting males, but those carrier females with reduced factorIX activity (FIX:C)... 
B PATIENTS | BLEEDING DISORDERS | DEPENDENT PROBE AMPLIFICATION | QUALITY ASSESSMENT SCHEME | factorIX | hemophiliaB | GERM-LINE MUTATION | F9 MESSENGER-RNA | genetic carrier detection | DEEP INTRONIC MUTATIONS | POINT MUTATIONS | DNA Mutational Analysis | PERIPHERAL VASCULAR DISEASE | FACTOR-IX GENE | prenatal diagnosis | HEMATOLOGY | PRENATAL-DIAGNOSIS
Journal Article
Human Mutation, ISSN 1059-7794, 02/2016, Volume 37, Issue 2, pp. 184 - 193
Journal Article
Journal Article
Molecular Pain, ISSN 1744-8069, 6/2018, Volume 14, pp. 1744806918781140 - 1744806918781140
Congenital insensitivity to pain with anhidrosis (CIPA) is a rare autosomal recessive disorder, characterized by loss of algesthesis and inability to sweat.... 
NTRK1 | Congenital insensitivity to pain with anhidrosis | gross deletion | deep intronic mutation | RECOMBINATION | INSERTION | MISSENSE | ALU | FRAMESHIFT | TRKA/NGF RECEPTOR GENE | NEUROSCIENCES | NERVE GROWTH-FACTOR | HIGH-AFFINITY RECEPTOR | NONSENSE-MEDIATED DECAY | DISEASE | Index Medicus
Journal Article
Gynecologic Oncology, ISSN 0090-8258, 2019, Volume 153, Issue 2, pp. 452 - 462
Objective: Germline mutations occurring in the highly penetrant genes BRCA1 and BRCA2 are responsible for only certain cases of familial breast cancer (BC) and... 
Breast cancer | Cancer predisposition genes | Multi-gene panel testing | Meta-analysis | Ovarian cancer | VARIANTS | SUSCEPTIBILITY | DEEP INTRONIC MUTATIONS | OVARIAN-CANCER | OBSTETRICS & GYNECOLOGY | BREAST-CANCER | WOMEN | BRIP1 | RAD51C | ONCOLOGY | GERMLINE MUTATIONS | SPECTRUM | Index Medicus
Journal Article
Journal Article
Journal Article
Molecular Therapy - Nucleic Acids, ISSN 2162-2531, 2016, Volume 5, Issue 11, pp. e390 - 20
Inherited optic neuropathies (ION) present an important cause of blindness in the European working-age population. Recently we reported the discovery of four... 
splice correction | OPA1 | optic neuropathies | deep intronic mutation | antisense oligonucleotides | MEDICINE, RESEARCH & EXPERIMENTAL | EXON | PROTEIN | GENE | ATROPHY | Genetics | Blindness | Mutation | Original
Journal Article
Bioscience Reports, ISSN 0144-8463, 03/2018, Volume 38, Issue 2, p. BSR20171300
Retinitis pigmentosa (RP) is a group of hereditary, degenerative retinal disorders characterized by progressive retinal dysfunction, outer retina cell loss,... 
PERSPECTIVE | CONE-ROD DYSTROPHY | DEEP-INTRONIC VARIANTS | BIOCHEMISTRY & MOLECULAR BIOLOGY | PHENOTYPE | MACULAR DEGENERATION | MICE | MECHANISMS | SPECTRUM | RETINAL DYSTROPHIES | STARGARDTS-DISEASE | CELL BIOLOGY
Journal Article