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Sang Thrombose Vaisseaux, ISSN 0999-7385, 09/2018, Volume 30, Issue 5, pp. 195 - 196
Journal Article
Prenatal Diagnosis, ISSN 0197-3851, 10/2017, Volume 37, Issue 10, pp. 1055 - 1056
Journal Article
American journal of medical genetics. Part A, ISSN 1552-4825, 2015, Volume 167, Issue 3, pp. 461 - 475
Journal Article
Arteriosclerosis, Thrombosis, and Vascular Biology, ISSN 1079-5642, 05/2018, Volume 38, Issue Suppl_1
Journal Article
Journal Article
European Journal of Human Genetics, ISSN 1018-4813, 04/2019, Volume 27, Issue 4, pp. 525 - 534
Journal Article
Journal of Medical Genetics, ISSN 0022-2593, 11/2016, Volume 53, Issue 11, pp. 752 - 760
BackgroundOculo-auriculo-vertebral spectrum (OAVS) is a developmental disorder involving first and second branchial arches derivatives, mainly characterised by... 
GOLDENHAR SYNDROME | NERVOUS-SYSTEM | OCULOAURICULOVERTEBRAL SPECTRUM | TRANSGENIC MOUSE | ZINC-FINGER | GENETICS & HEREDITY | AURICULO-VERTEBRAL SPECTRUM | HEMIFACIAL MICROSOMIA | OF-THE-LITERATURE | EXPRESSION | RETINOIC ACID EMBRYOPATHY | Transcription factors | Mutation (Biology) | Research
Journal Article
Science, ISSN 0036-8075, 4/2011, Volume 332, Issue 6026, pp. 240 - 243
The spliceosome, a ribonucleoprotein complex that includes proteins and small nuclear RNAs (snRNAs), catalyzes RNA splicing through intron excision and exon... 
Messenger RNA | Splicing | Introns | Genes | REPORTS | Cell lines | Fibroblasts | Small nuclear RNA | Spliceosomes | Genetic mutation | Sequencing | U4 SNRNA | RNA SURVEILLANCE | PROTEIN | NONSENSE-MEDIATED DECAY | INTRONS | MULTIDISCIPLINARY SCIENCES | SPLICEOSOME | U12-TYPE | INBREEDING COEFFICIENT | DWARFISM | Microcephaly - genetics | Microtubule-Associated Proteins - genetics | Spliceosomes - genetics | Humans | Child, Preschool | Fetal Growth Retardation - genetics | Infant | Male | Chromosomes, Human, Pair 2 - genetics | Spliceosomes - metabolism | RNA Splicing | Dwarfism - metabolism | Osteochondrodysplasias - genetics | RNA, Small Nuclear - genetics | Female | Nucleic Acid Conformation | Inverted Repeat Sequences | Cell Line | RNA Splice Sites | Microcephaly - metabolism | Fetal Growth Retardation - metabolism | Dwarfism - genetics | Point Mutation | Base Pairing | Pedigree | RNA, Small Nuclear - chemistry | RNA, Small Nuclear - metabolism | Osteochondrodysplasias - metabolism | Genetic aspects | Properties | Developmental bone diseases | RNA splicing | Mental disorders | Ribonucleic acid--RNA | Developmental disabilities | Index Medicus | Microcephaly | Chromosomes, Human, Pair 2 | Dwarfism | Life Sciences | Osteochondrodysplasias | Computer Science | RNA, Small Nuclear | Modeling and Simulation | Fetal Growth Retardation | Microtubule-Associated Proteins
Journal Article
Journal Article
European Journal of Human Genetics, ISSN 1018-4813, 04/2019, Volume 27, Issue 4, pp. 663 - 668
Simpson-Golabi-Behmel syndrome (SGBS). OMIM# OF THE DISEASE: 312870. GPC3. OMIM# OF THE GENE(S): 300037. Review of the analytical and clinical validity as well... 
GPC3 | DUPLICATION | BIOCHEMISTRY & MOLECULAR BIOLOGY | GENETICS & HEREDITY | GPC3 gene | Risk assessment | Deoxyribonucleic acid--DNA
Journal Article
Science, ISSN 0036-8075, 2/2008, Volume 319, Issue 5864, pp. 816 - 819
Journal Article
RNA (New York, N.Y.), ISSN 1355-8382, 06/2019, Volume 25, Issue 9, pp. 1130 - 1149
Minor intron splicing plays a central role in human embryonic development and survival. Indeed, biallelic mutations in , transcribed into the minor... 
Embryogenesis | Splicing | Introns | Amniotic fluid | Blood cells | Fibroblasts | Skin | Gene expression | snRNA | Index Medicus
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 07/2014, Volume 95, Issue 1, pp. 113 - 120
Journal Article
Journal of Medical Genetics, ISSN 0022-2593, 12/2007, Volume 44, Issue 12, pp. 763 - 771
Journal Article
Human Mutation, ISSN 1059-7794, 12/2016, Volume 37, Issue 12, pp. 1329 - 1339
Journal Article