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Composites. Part B, Engineering, ISSN 1359-8368, 11/2018, Volume 152, pp. 116 - 125
Journal Article
The Lancet (British edition), ISSN 0140-6736, 02/2019, Volume 393, Issue 10173, pp. 747 - 757
Medicine, General & Internal | Life Sciences & Biomedicine | General & Internal Medicine | Science & Technology | 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 | Index Medicus | Abridged Index Medicus
Journal Article
International journal of biological macromolecules, ISSN 0141-8130, 11/2018, Volume 119, pp. 540 - 547
GCF nanocomposite material | Kinetics | Chromium(VI) | Isotherms | Biochemistry & Molecular Biology | Physical Sciences | Chemistry | Life Sciences & Biomedicine | Chemistry, Applied | Polymer Science | Science & Technology | Water Pollutants, Chemical - isolation & purification | Chitosan - chemistry | Adsorption | Nanocomposites - chemistry | Solutions | Oxides - chemistry | Water - chemistry | Chromium - isolation & purification | Water Pollutants, Chemical - chemistry | Ferric Compounds - chemistry | Chromium - chemistry | Graphite - chemistry | Chromium | Powders | Graphene | Graphite | Index Medicus
Journal Article
American journal of medical genetics. Part A, ISSN 1552-4825, 11/2017, Volume 173, Issue 11, pp. 3003 - 3012
HNRNPU | seizures | aggressive outbursts | behavior | intellectual disability | trio exome sequencing | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Developmental Disabilities - physiopathology | Haploinsufficiency - genetics | Genetic Predisposition to Disease | Seizures - genetics | Heterogeneous-Nuclear Ribonucleoprotein U - genetics | Humans | Child, Preschool | Infant | Male | Developmental Disabilities - genetics | Neurodevelopmental Disorders - genetics | Neurodevelopmental Disorders - physiopathology | Intellectual Disability - genetics | Exome | Intellectual Disability - physiopathology | Young Adult | Seizures - physiopathology | Phenotype | Adolescent | Adult | Female | Heterozygote | Mutation | Child | Children | Neurodevelopmental disorders | Intellectual disabilities | Seizures | Haploinsufficiency | Index Medicus | behaviour
Journal Article
Science (American Association for the Advancement of Science), ISSN 0036-8075, 12/2018, Volume 362, Issue 6419, pp. 1161 - 1164
Science & Technology - Other Topics | Multidisciplinary Sciences | Science & Technology | Genome-wide association studies | Gene mutations | Child development deviations | Genetic research | Genetic aspects | Research | Developmental disabilities | Proteins | Animal models | Genes | Disorders | Genetics | Heredity | Genomes | Genetic diversity | Mutation | Patients | Polygenic inheritance | Index Medicus
Journal Article
Clinical medicine (London, England), ISSN 1470-2118, 04/2018, Volume 18, Issue 2, pp. 192 - 192
Journal Article
Clinical medicine (London, England), ISSN 1470-2118, 04/2018, Volume 18, Issue 2, p. 192
Journal Article
Neurology India, ISSN 0028-3886, 03/2019, Volume 67, Issue 2, pp. 516 - 529
Journal Article
Clinical medicine (London, England), ISSN 1470-2118, 12/2017, Volume 17, Issue 6, pp. 558 - 561
Medicine, General & Internal | Life Sciences & Biomedicine | General & Internal Medicine | Science & Technology | Intellectual Disability - physiopathology | Developmental Disabilities - physiopathology | Phenotype | Genetic Testing | Microarray Analysis | Humans | Intellectual Disability - diagnosis | Developmental Disabilities - genetics | Developmental Disabilities - diagnosis | Intellectual Disability - genetics | Urine | Nuclear magnetic resonance--NMR | Activities of daily living | Intellectual disabilities | Epilepsy | Diagnostic tests | Families & family life | Biochemistry | Children & youth | Polymerase chain reaction | Parents & parenting | Genetics | Learning disabilities | Skin | Mutation | Age | Developmental disabilities | Chromosomal micro-array | WGS | WES | global developmental delay | learning disability | CME Genetic medicine | intellectual diasbility | clinical exome
Journal Article
Indian journal of plastic surgery, ISSN 0970-0358, 09/2018, Volume 51, Issue 3, pp. 306 - 308
Journal Article
European journal of human genetics : EJHG, ISSN 1018-4813, 04/2012, Volume 20, Issue 4, pp. 381 - 388
MLL2 | mutation spectrum | Kabuki syndrome | facial dysmorphism | genetic heterogeneity | Biochemistry & Molecular Biology | Genetics & Heredity | Life Sciences & Biomedicine | Science & Technology | Fundamental and applied biological sciences. Psychology | General aspects. Genetic counseling | Medical genetics | Biological and medical sciences | Molecular and cellular biology | Genetics of eukaryotes. Biological and molecular evolution | Medical sciences | Face - abnormalities | Humans | DNA-Binding Proteins - genetics | Sequence Analysis, DNA | Genetic Heterogeneity | Phenotype | Hematologic Diseases - genetics | Female | Mutation | Vestibular Diseases - genetics | Neoplasm Proteins - genetics | Abnormalities, Multiple - genetics | Cohort Studies | Chromatin | Phenotypes | Kidneys | Congenital defects | Intellectual disabilities | Gene expression | Feeding | Medicine | Embryogenesis | Missense mutation | Morphology | Genetics | Cancer | Index Medicus | Exons | Data processing | Kidney | epigenetics | Dislocation | Development | Joints
Journal Article