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Case reports in pediatrics, ISSN 2090-6803, 4/2017, Volume 2017, pp. 9682803 - 4
Usage | Immune response | Research | Membrane proteins | Vasculitis | Gene mutations | Analysis | Genetic aspects | Children | Nucleotide sequencing | Diagnosis | Health aspects | DNA sequencing | Immunoglobulins | Genes | Thyroid gland | Inflammation | Family medical history | Kinases | Medical screening | Patients | Autism | Cell growth | Hospitals | Surveillance | Mutation | Cancer | Case Report
Journal Article
Archives of disease in childhood, ISSN 0003-9888, 10/2011, Volume 96, Issue 10, pp. 954 - 959
Life Sciences & Biomedicine | Pediatrics | Science & Technology | Public health. Hygiene-occupational medicine | Public health. Hygiene | General aspects | Miscellaneous | Psychology. Psychoanalysis. Psychiatry | Infantile autism | Prevention and actions | Psychopathology. Psychiatry | Developmental disorders | Biological and medical sciences | Medical sciences | Child clinical studies | Trisomy | Education, Special | Language Development Disorders - genetics | Humans | Language Therapy | Speech Therapy | Male | Psychometrics | Educational Status | Language Development Disorders - therapy | Child Development Disorders, Pervasive - psychology | Sex Chromosome Aberrations | Child Development Disorders, Pervasive - genetics | Karyotyping | Female | Prenatal Diagnosis - methods | Child | Autism | Usage | Prenatal diagnosis | Demographic aspects | Distribution | Research | Sex chromosome abnormalities | Communicative disorders in children | Index Medicus | Abridged Index Medicus
Journal Article
American journal of human genetics, ISSN 0002-9297, 02/2016, Volume 98, Issue 2, pp. 373 - 381
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Genetic Testing | Choanal Atresia - genetics | Humans | Child, Preschool | Molecular Sequence Data | Developmental Disabilities - genetics | Ubiquitin Thiolesterase - genetics | Intellectual Disability - genetics | Young Adult | Phenotype | Genes, X-Linked | Base Sequence | Choanal Atresia - diagnosis | Intellectual Disability - diagnosis | Adolescent | Ubiquitin Thiolesterase - metabolism | Female | Mutation | Child | Developmental Disabilities - diagnosis | X Chromosome Inactivation | Genetic disorders | Gene mutations | Physiological aspects | Child development deviations | Genetic aspects | Observations | Developmental disabilities | Genetics | Congenital diseases | Females | Genes | Index Medicus | Report | Medicin och hälsovetenskap
Journal Article
British journal of general practice, ISSN 0960-1643, 09/2019, Volume 69, Issue 686, pp. 460 - 461
Medicine, General & Internal | Primary Health Care | Life Sciences & Biomedicine | General & Internal Medicine | Science & Technology | Fragile X Syndrome - genetics | Fragile X Syndrome - therapy | Genetic Predisposition to Disease | Genetic Testing | Humans | General Practice | Family Health | Female | Male | Disease Management | Genetic Carrier Screening | Fragile X Syndrome - diagnosis | Index Medicus
Journal Article
Journal of medical genetics, ISSN 0022-2593, 10/2014, Volume 51, Issue 10, pp. 659 - 668
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Phenotype | Genetic Association Studies | Face - pathology | Humans | Mosaicism | Mutation | Genetic Heterogeneity | De Lange Syndrome - genetics | De Lange syndrome | Care and treatment | Diagnosis | Analysis | Genomics | Classification | Photographs | Software | Genetic testing | Gene expression | Deoxyribonucleic acid--DNA | Index Medicus | Copy-number | Clinical genetics | Molecular genetics | 1506 | Genotype-Phenotype Correlations
Journal Article
Nature communications, ISSN 2041-1723, 2018, Volume 9, Issue 1, pp. 4619 - 12
Science & Technology - Other Topics | Multidisciplinary Sciences | Science & Technology | Brain | Phenotypes | Disorders | Genomes | Neurodevelopmental disorders | Remodeling | Gene sequencing | Chromatin remodeling | Proteins | DNA helicase | Alterations | Missense mutation | Language | Speech | Children | Mutation | Disruption | Three dimensional models | Adenosine triphosphatase | Genotypes | Index Medicus | Life Sciences | Neurons and Cognition | Biochemistry, Molecular Biology | Neurobiology | Genetics | Biomolecules | Development Biology | Human genetics | Embryology and Organogenesis | Clinical epigenetics | Disease genetics | Chromatin remodelling
Journal Article
Nature genetics, ISSN 1061-4036, 01/2014, Volume 46, Issue 1, pp. 70 - 76
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Humans | Cells, Cultured | Molecular Sequence Data | Male | Phosphatidylserines - biosynthesis | Hyperostosis | Zebrafish - embryology | Syndrome | Zebrafish - genetics | Dwarfism | Nitrogenous Group Transferases - genetics | Animals | Adolescent | Embryo, Nonmammalian | Female | Phosphatidylserines - genetics | Mutation | Nitrogenous Group Transferases - metabolism | Child | Abnormalities, Multiple - genetics | Fibroblasts - metabolism | Gene mutations | Ligases | Physiological aspects | Genetic aspects | Research | Risk factors | Medical research | Kinases | Genes | Index Medicus
Journal Article
Human mutation, ISSN 1059-7794, 2020, Volume 41, Issue 5, pp. 1042 - 1050
gene expression regulation | seizures | behavioral symptoms | zinc fingers | intellectual disability | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Hypoplasia | Genotype & phenotype | Phenotypes | Dental enamel | Transcription | Intellectual disabilities | Brachydactyly | Seizures | Index Medicus
Journal Article
Genetics in medicine, ISSN 1098-3600, 01/2020, Volume 22, Issue 1, pp. 124 - 131
congenital contractural arachnodactyly | diagnostic criteria | FIBRILLIN | PATHOGENESIS | clinical score | DELINEATION | FBN2 MUTATIONS | fibrillin-2 | Beals syndrome | MARFAN-SYNDROME | DISORDER | PROBANDS | DILATATION | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Congenital diseases | Laboratories | Scoliosis | Extracellular matrix | Genetics | Software | Patients | Marfan syndrome | Index Medicus
Journal Article
BMC medical genetics, ISSN 1471-2350, 07/2017, Volume 18, Issue 1, pp. 79 - 79
Case report | Hereditary cancer | Fumarate hydratase deficiency | Hereditary leiomyomatosis and renal cell cancer (HLRCC) | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Kidney Neoplasms - genetics | Humans | Carcinoma, Renal Cell - genetics | Infant | Psychomotor Disorders - complications | Fumarate Hydratase - deficiency | Kidney Neoplasms - diagnosis | Muscle Hypotonia - diagnosis | Psychomotor Disorders - genetics | Germ-Line Mutation | Female | Kidney Neoplasms - complications | Muscle Hypotonia - complications | Genetic Predisposition to Disease | Muscle Hypotonia - genetics | Carcinoma, Renal Cell - pathology | Early Detection of Cancer | Psychomotor Disorders - pathology | Fumarate Hydratase - genetics | Metabolism, Inborn Errors - genetics | Muscle Hypotonia - pathology | Metabolism, Inborn Errors - diagnosis | Carcinoma, Renal Cell - diagnosis | Psychomotor Disorders - diagnosis | Kidney Neoplasms - pathology | Metabolism, Inborn Errors - pathology | Metabolism, Inborn Errors - complications | Fumarase | Research | Diagnosis | Gene mutations | Kidney cancer | Tricarboxylic acid cycle | Genes | Citric acid | Chromosome 1 | Hereditary diseases | Abdomen | Fumarate hydratase | Parents & parenting | Ultrasonic imaging | Cysts | Surveillance | Fumaric acid | Renal cell carcinoma | Encephalopathy | Children | Mutation | Age | Seizures | Kidney transplantation | Tumors | Cancer | Index Medicus | Case Report
Journal Article