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JAMA pediatrics, ISSN 2168-6203, 12/2017, Volume 171, Issue 12, pp. e173438 - e173438
Journal Article
Journal of allergy and clinical immunology, ISSN 0091-6749, 2013, Volume 131, Issue 5, pp. 1376 - 1383.e3
Journal Article
The Lancet (British edition), ISSN 0140-6736, 2019, Volume 393, Issue 10173, pp. 747 - 757
... in the prenatal setting. We therefore aimed to evaluate the proportion of fetuses with structural abnormalities that had identifiable variants in genes associated with developmental disorders when assessed with whole-exome sequencing (WES... 
PRIMARY CILIARY DYSKINESIA | DIAGNOSIS | MEDICINE, GENERAL & INTERNAL | MUTATIONS CAUSE | DEFECTS | WHOLE-GENOME | KBG SYNDROME | MOLECULAR FINDINGS | FETUSES | NR2F2 | KABUKI SYNDROME | Fetus - abnormalities | Congenital Abnormalities - epidemiology | Fetus - diagnostic imaging | Prospective Studies | Humans | Parents | Perinatal Death - etiology | Male | DNA Copy Number Variations - genetics | Whole Exome Sequencing - methods | Abnormal Karyotype - embryology | Congenital Abnormalities - diagnosis | Pregnancy | Abortion, Spontaneous - epidemiology | Congenital Abnormalities - genetics | Nuchal Translucency Measurement | Stillbirth - epidemiology | Abnormal Karyotype - statistics & numerical data | Female | Live Birth - epidemiology | Fetal Development - genetics | Abortion, Eugenic - statistics & numerical data | Infant, Newborn | Whole Exome Sequencing - statistics & numerical data | Ultrasound imaging | Pregnant women | Heart | Intellectual disabilities | Copy number | Genes | Disorders | Prenatal development | Aneuploidy | Genomes | Gestation | Microcephaly | Genetic screening | Gene sequencing | Disability | Proteins | Parents & parenting | Ultrasonic imaging | Next-generation sequencing | Scoliosis | Heart diseases | Ultrasound | Deoxyribonucleic acid--DNA | Phenotypes | Congenital diseases | Research & development--R&D | Fetuses | Abnormalities | Birth defects | Heredity | Hearing impairment | Coronary artery disease | Genetic variance | DNA microarrays | Gene frequency | Diagnostic systems | Cardiovascular diseases | Anomalies
Journal Article
Nature communications, ISSN 2041-1723, 2017, Volume 8, Issue 1, p. 14121
Journal Article
Journal Article
Medicine, ISSN 0025-7974, 09/2018, Volume 97, Issue 36, p. e12214
Rationale: Acute promyelocytic leukemia (APL) is a kind of acute myeloid leukemia, which was characterized by the presence of PML/RARa fusion gene. Mutations... 
MEDICINE, GENERAL & INTERNAL | skeleton dysplasia | acute promyelocytic leukemia | whole exome sequencing | CHST3 | Treatment outcome | Usage | Gene mutations | Analysis | Exome sequencing | Idarubicin | Dosage and administration | Research
Journal Article
Journal Article
Clinical genetics, ISSN 0009-9163, 2016, Volume 89, Issue 3, pp. 275 - 284
Journal Article