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Journal of medical genetics, ISSN 0022-2593, 11/2008, Volume 45, Issue 11, pp. 710 - 720
Life Sciences & Biomedicine | Genetics & Heredity | 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 | Muscle Hypotonia - epidemiology | Prevalence | Oligonucleotide Array Sequence Analysis | Humans | Child, Preschool | Infant | Male | Developmental Disabilities - genetics | Chromosome Inversion | tau Proteins | Chromosomes, Human, Pair 17 - genetics | Young Adult | Abnormalities, Multiple - epidemiology | Adult | Female | Child | Abnormalities, Multiple - genetics | Chromosome Deletion | Developmental Disabilities - physiopathology | Muscle Hypotonia - genetics | Face - pathology | Abnormalities, Multiple - physiopathology | Developmental Disabilities - epidemiology | Muscle Hypotonia - physiopathology | Adolescent | Polymorphism, Single Nucleotide | Physiological aspects | Genetic aspects | Genetic disorders | Research | Chromosomes | Mental retardation | Index Medicus
Journal Article
Journal of medical genetics, ISSN 0022-2593, 09/2009, Volume 46, Issue 9, pp. 598 - 606
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Fundamental and applied biological sciences. Psychology | Classical genetics, quantitative genetics, hybrids | Human | General aspects. Genetic counseling | Medical genetics | Biological and medical sciences | Molecular and cellular biology | Genetics of eukaryotes. Biological and molecular evolution | Medical sciences | Abnormalities, Multiple - metabolism | Amino Acid Sequence | Sequence Deletion | Histone-Lysine N-Methyltransferase - genetics | Humans | Middle Aged | Child, Preschool | Molecular Sequence Data | Male | Chromosomes, Human, Pair 9 | Syndrome | Intellectual Disability - genetics | Intellectual Disability - metabolism | Histone-Lysine N-Methyltransferase - chemistry | Haploidy | Phenotype | Sequence Alignment | Histone-Lysine N-Methyltransferase - metabolism | Adolescent | Adult | Female | Child | Abnormalities, Multiple - genetics | Telomere - genetics | Haplotypes | Telomeres | Gene amplification | Usage | Chromosome deletion | Research | Epilepsy | Colleges & universities | Genomes | Hearing impairment | Patients | Defects | Proteins | Genotype & phenotype | Child development | Hernias | DNA methylation | Mutation | Deoxyribonucleic acid--DNA | Index Medicus
Journal Article
Journal of intellectual disability research, ISSN 0964-2633, 2020, Volume 64, Issue 12, pp. 956 - 969
NFIX variants | Marshall–Smith syndrome | sensory processing | Malan syndrome | cognition | adaptive behaviour | Social Sciences | Clinical Neurology | Life Sciences & Biomedicine | Education, Special | Education & Educational Research | Genetics & Heredity | Rehabilitation | Neurosciences & Neurology | Psychiatry | Science & Technology | Measurement | Behavioural aspects | Phenotypes | Risk behavior | Intellectual disabilities | Sensory processes | Assessment | Cognition | Adaptive behaviour | Sensory perception | Quality of life | Disability | Cognitive aspects | Variants | Social development | Challenging behaviour | Speech | Learning disabilities | Behavioural problems | Index Medicus
Journal Article
Human molecular genetics, ISSN 0964-6906, 2014, Volume 23, Issue 16, pp. 4315 - 4327
Biochemistry & Molecular Biology | Genetics & Heredity | Life Sciences & Biomedicine | Science & Technology | ras Proteins - genetics | Humans | Carcinogenesis - genetics | ras Proteins - metabolism | MAP Kinase Kinase Kinases - metabolism | Signal Transduction - genetics | Extracellular Signal-Regulated MAP Kinases - metabolism | Noonan Syndrome - genetics | Caenorhabditis elegans | Mutation - physiology | Phenotype | Animals | ras Proteins - chemistry | Leukemia, Myelomonocytic, Juvenile - genetics | Oncogene Protein v-akt - metabolism | Cohort Studies | Leukemia, Myeloid, Acute - genetics | Index Medicus
Journal Article
Journal of the American Society of Nephrology, ISSN 1046-6673, 06/2015, Volume 26, Issue 6, pp. 1279 - 1289
Life Sciences & Biomedicine | Urology & Nephrology | Science & Technology | Humans | Middle Aged | Child, Preschool | Infant | Male | Nephrotic Syndrome - genetics | Nephrotic Syndrome - congenital | Incidence | Young Adult | Adult | Female | Retrospective Studies | Genetic Predisposition to Disease - epidemiology | Child | Intracellular Signaling Peptides and Proteins - genetics | Real-Time Polymerase Chain Reaction | Genetic Association Studies | Risk Assessment | Membrane Proteins - genetics | Genotype | Phenotype | Genes, Wilms Tumor | Nephrotic Syndrome - physiopathology | Pedigree | Adolescent | Age of Onset | Nephrotic Syndrome - epidemiology | Heterozygote | Mutation | Cohort Studies | Index Medicus | SRNS | steroid-resistant nephrotic syndrome | kidney failure | FSGS | nephrosis | genetic disease | Basic Research
Journal Article
Atmospheric measurement techniques, ISSN 1867-1381, 11/2018, Volume 11, Issue 11, pp. 6231 - 6257
Meteorology & Atmospheric Sciences | Physical Sciences | Science & Technology | Aerosols | Environmental aspects | Atmospheric circulation | Nucleation | Observations | Relative humidity | Size distribution | Soil erosion | Clouds | Sandy loam | Sandy soils | Measuring instruments | Immersion | Condensation | Cloud droplets | Freezing | Cloud-climate relationships | Proteins | Temperature measurements | Filters | Water vapour | Diffusion chambers | Temperature effects | Mathematical analysis | Research methodology | Arable land | Measurement techniques | Agreements | Sampling | Collections | Aerosol size distribution | Dust clouds | Cooling | Adiabatic processes | Instruments | Dye dispersion | Workshops | Atmospheric particulates | Loam | Cloud chambers | Substrates | Particle size distribution | Collection | Measurement | Particle size | Temperature | Conferences | Methodology | Laboratories | Dust particles | Illite | Activation | Minerals | Temperature regime | Aerosol-cloud interactions | Dynamics | Humidity | Droplets | Dynamics of the atmosphere | Saturation | Adiabatic | Particulates | Ice | Data | Calibration | Water vapor | Rangefinding | Continuous flow | Soils | Dust | Ice nucleation | Submerging | Aerosol particles | Data collection | Instability | Portable equipment | Interactions | Potassium | ENVIRONMENTAL SCIENCES | Fysik | Subatomär fysik | Subatomic Physics | Naturvetenskap | Natural Sciences
Journal Article
Neurology, ISSN 0028-3878, 2016, Volume 86, Issue 10, pp. 954 - 962
Clinical Neurology | Neurosciences & Neurology | Life Sciences & Biomedicine | Science & Technology | Neurodevelopmental Disorders - epidemiology | Brain Diseases - epidemiology | Munc18 Proteins - genetics | Brain Diseases - diagnosis | Humans | Middle Aged | Brain Diseases - genetics | Child, Preschool | Infant | Male | Neurodevelopmental Disorders - genetics | Mutation - genetics | Epilepsy - diagnosis | Epilepsy - epidemiology | Young Adult | Adolescent | Adult | Epilepsy - genetics | Female | Child | Neurodevelopmental Disorders - diagnosis | Index Medicus | Abridged Index Medicus
Journal Article
Hypertension (Dallas, Tex. 1979), ISSN 0194-911X, 10/2010, Volume 56, Issue 4, pp. 713 - U282
Journal Article