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Acta Neuropathologica, ISSN 0001-6322, 2/2011, Volume 121, Issue 2, pp. 149 - 170
Journal Article
Acta Neuropathologica, ISSN 0001-6322, 10/2010, Volume 120, Issue 4, pp. 503 - 515
Journal Article
Acta Neuropathologica, ISSN 0001-6322, 9/2013, Volume 126, Issue 3, pp. 427 - 442
Journal Article
Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 11/2019, Volume 179, Issue 11, pp. 2257 - 2262
Introduction SMG9 deficiency is an extremely rare autosomal recessive condition originally described in three patients from two families harboring homozygous... 
heart and brain malformation | nonsense mediated decay | SMG9 | Growth rate | Cleft lip/palate | Life Sciences | Genetics
Journal Article
Journal of Medical Genetics, ISSN 0022-2593, 11/2016, Volume 53, Issue 11, pp. 743 - 751
BackgroundHeterozygous NSD1 mutations were identified in 60%–90% of patients with Sotos syndrome. Recently, mutations of the SETD2 and DNMT3A genes were... 
OVERGROWTH SYNDROME | METHYLATION | METHYLTRANSFERASE | GENE | HISTONE H3 | CLONAL HEMATOPOIESIS | NSD1 | HEMATOPOIETIC STEM-CELLS | GENETICS & HEREDITY | MUTATIONS | CANCER | Care and treatment | Phenotype | Genetic aspects | Research | Sotos syndrome
Journal Article
Prenatal Diagnosis, ISSN 0197-3851, 10/2019, Volume 39, Issue 11, pp. 986 - 992
Objective Uniparental disomy (UPD) testing is currently recommended during pregnancy in fetuses carrying a balanced Robertsonian translocation (ROB) involving... 
Genetic research | Pregnant women | Chromosomes | Translocation | Robertsonian translocation | Fetuses | Parents | Underpotential deposition | Homology | Risk | Pregnancy | Uniparental disomy | Prenatal diagnosis | Chromosome 14 | Diagnosis | Miscarriage | Life Sciences | Human health and pathology | Gynecology and obstetrics | Genetics | Human genetics
Journal Article
Genetics in medicine : official journal of the American College of Medical Genetics, ISSN 1098-3600, 05/2019, Volume 21, Issue 11, pp. 2654 - 2655
Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 2016, Volume 170, Issue 11, pp. 2847 - 2859
Journal Article
Human mutation, ISSN 1059-7794, 06/2019, Volume 40, Issue 11, pp. 1993 - 2000
Human retrocopies, i.e. mRNA transcripts benefitting from the LINE-1 machinery for retrotransposition, may have specific consequences for genomic testing. NGS... 
Life Sciences | Genetics | Human genetics
Journal Article
Journal Article