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Aging cell, ISSN 1474-9718, 04/2019, Volume 18, Issue 2, pp. e12902 - n/a
miRNA | MT2 | Alzheimer’s disease | melatonin | dendritic complexity | dendritic spines | Life Sciences & Biomedicine | Geriatrics & Gerontology | Science & Technology | Cell Biology | CCAAT-Enhancer-Binding Proteins - metabolism | Dendrites - metabolism | Dendrites - pathology | Cells, Cultured | Male | Mice, Transgenic | MicroRNAs - metabolism | Alzheimer Disease - pathology | Animals | Maze Learning | Alzheimer Disease - metabolism | Mice | Receptor, Melatonin, MT2 - metabolism | Disease Models, Animal | Neuroprotection | Melatonin | Neurodegenerative diseases | Therapeutic applications | Cyclic AMP | Data processing | Learning | Dendritic spines | Signal transduction | Presenilin 1 | Alzheimers disease | Alzheimer's disease | Hippocampus | Dendritic branching | Index Medicus | Original
Journal Article
Orphanet journal of rare diseases, ISSN 1750-1172, 2011, Volume 6, Issue 1, pp. 56 - 56
Genetics & Heredity | Life Sciences & Biomedicine | Medicine, Research & Experimental | Science & Technology | Research & Experimental Medicine | Abnormalities, Multiple - pathology | Limb Deformities, Congenital - genetics | Radius - pathology | Kidney - pathology | Humans | Male | Tracheoesophageal Fistula - complications | Anus, Imperforate - pathology | Spine - abnormalities | Heart Defects, Congenital - genetics | Abnormalities, Multiple - epidemiology | Female | Spine - pathology | Anal Canal - pathology | Abnormalities, Multiple - genetics | Anus, Imperforate - diagnosis | Infant, Newborn | Trachea - abnormalities | Tracheoesophageal Fistula - epidemiology | Anus, Imperforate - complications | Heart Defects, Congenital - pathology | Radius - abnormalities | Esophagus - abnormalities | Anal Canal - abnormalities | Trachea - pathology | Limb Deformities, Congenital - diagnosis | Esophagus - pathology | Heart Defects, Congenital - complications | Kidney - abnormalities | Limb Deformities, Congenital - epidemiology | Abnormalities, Multiple - diagnosis | Anus, Imperforate - genetics | Tracheoesophageal Fistula - genetics | Heart Defects, Congenital - epidemiology | Heart Defects, Congenital - diagnosis | Limb Deformities, Congenital - complications | Anus, Imperforate - epidemiology | Limb Deformities, Congenital - pathology | Care and treatment | Genetic aspects | Prognosis | Diagnosis | VATER syndrome | Index Medicus
Journal Article
American journal of medical genetics. Part A, ISSN 1552-4825, 06/2013, Volume 161, Issue 6, pp. 1345 - 1353
craniofacial malformations | frontonasal dysplasia | oculo‐auriculo‐vertebral spectrum | oculoauriculofrontonasal syndrome | nasal anomalies | Craniofacial malformations | Nasal anomalies | Oculo-auriculo-vertebral spectrum | Frontonasal dysplasia | Oculoauriculofrontonasal syndrome | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Eye Abnormalities - diagnostic imaging | Face - abnormalities | Humans | Child, Preschool | Male | Ear, External - diagnostic imaging | Craniofacial Abnormalities - classification | Craniofacial Abnormalities - diagnostic imaging | Spine - abnormalities | Maxilla - abnormalities | Female | Retrospective Studies | Respiratory System Abnormalities - genetics | Child | Abnormalities, Multiple - genetics | Craniofacial Abnormalities - genetics | Infant, Newborn | Respiratory System Abnormalities - classification | Eye Abnormalities - classification | Abnormalities, Multiple - diagnostic imaging | Nasal Bone - abnormalities | Eye Abnormalities - genetics | Gestational Age | Radiography | Ear, External - abnormalities | Phenotype | Spine - diagnostic imaging | Face - diagnostic imaging | Ossification, Heterotopic | Respiratory System Abnormalities - diagnostic imaging | Abnormalities, Multiple - classification | Index Medicus | Children
Journal Article
The Journal of pediatrics, ISSN 0022-3476, 2014, Volume 164, Issue 3, pp. 458 - 462.e2
Pediatrics | Life Sciences & Biomedicine | Science & Technology | Facial Bones - abnormalities | Urogenital Abnormalities - epidemiology | Umbilical Arteries - abnormalities | Humans | Limb Deformities, Congenital - therapy | Male | Odontoid Process - abnormalities | Spine - abnormalities | Orthopedic Procedures | Female | Trachea - abnormalities | Neural Tube Defects - epidemiology | Sacrococcygeal Region - abnormalities | Linear Models | Radius - abnormalities | Esophagus - abnormalities | Anal Canal - abnormalities | Limb Deformities, Congenital - diagnosis | Kidney - abnormalities | Limb Deformities, Congenital - epidemiology | Coccyx - abnormalities | Heart Defects, Congenital - epidemiology | Heart Defects, Congenital - diagnosis | Heart Defects, Congenital - therapy | Thumb - abnormalities | Fistula, Tracheoesophageal | Medical genetics | Index Medicus | Abridged Index Medicus
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Malformations in a cohort of 284 women with Mayer-Rokitansky-Küster-Hauser syndrome (MRKH)
Reproductive biology and endocrinology, ISSN 1477-7827, 08/2012, Volume 10, Issue 1, pp. 57 - 57
Malformations | Renal abnormalities | Diagnosis | MRKH syndrome | Staging | VCUAM | Endocrinology & Metabolism | Life Sciences & Biomedicine | Reproductive Biology | Science & Technology | Abnormalities, Multiple - pathology | Uterus - pathology | Vagina - diagnostic imaging | Kidney - pathology | Humans | Vagina - abnormalities | Spine - abnormalities | Congenital Abnormalities | Kidney - diagnostic imaging | Ultrasonography | Adult | Female | Retrospective Studies | Spine - pathology | Mullerian Ducts - diagnostic imaging | Vagina - pathology | 46, XX Disorders of Sex Development | Somites - diagnostic imaging | Uterus - abnormalities | Abnormalities, Multiple - diagnostic imaging | Mullerian Ducts - pathology | Mullerian Ducts - abnormalities | Spine - diagnostic imaging | Kidney - abnormalities | Adolescent | Somites - abnormalities | Somites - pathology | Uterus - diagnostic imaging | Abnormalities, Multiple - classification | Index Medicus
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Genetics in medicine, ISSN 1098-3600, 07/2018, Volume 20, Issue 7, pp. 745 - 753
fetal anomalies | GREB1L | exome sequencing | birth defects | de novo mutations | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Abnormalities, Multiple - pathology | Fetus - abnormalities | Limb Deformities, Congenital - genetics | Genomics | Humans | Fetus - pathology | Male | Stillbirth - genetics | Whole Exome Sequencing - methods | Kidney Diseases - genetics | Spine - abnormalities | Heart Defects, Congenital - genetics | Congenital Abnormalities - genetics | Adult | Female | Hydrocephalus - genetics | Neoplasm Proteins - genetics | Abnormalities, Multiple - genetics | Trachea - abnormalities | Kidney Diseases - congenital | Genotype | Esophagus - abnormalities | Anal Canal - abnormalities | Pregnancy | Phenotype | Kidney - abnormalities | Tracheoesophageal Fistula - genetics | Family | Mutation | Prenatal Diagnosis - methods | Urogenital Abnormalities - genetics | Index Medicus
Journal Article
American journal of obstetrics and gynecology, ISSN 0002-9378, 12/2019, Volume 221, Issue 6, pp. B16 - B18
Life Sciences & Biomedicine | Obstetrics & Gynecology | Science & Technology | Genetic Testing | Humans | Congenital Bone Marrow Failure Syndromes - complications | Lower Extremity Deformities, Congenital - complications | Heart Septal Defects, Atrial - diagnosis | Thrombocytopenia - complications | Trisomy 18 Syndrome - complications | Trisomy 18 Syndrome - diagnosis | Thrombocytopenia - genetics | Heart Defects, Congenital - genetics | Microarray Analysis | Chorionic Villi Sampling | Heart Septal Defects, Atrial - genetics | Fanconi Anemia - genetics | Valproic Acid - adverse effects | Lower Extremity Deformities, Congenital - genetics | Abnormalities, Multiple - genetics | Thumb - diagnostic imaging | Carpal Bones - abnormalities | Fanconi Anemia - complications | Upper Extremity Deformities, Congenital - diagnosis | Heart Defects, Congenital - complications | Kidney - abnormalities | Abnormalities, Multiple - diagnosis | Limb Deformities, Congenital - diagnostic imaging | Heart Defects, Congenital - diagnosis | Trisomy 13 Syndrome - diagnosis | Radius - diagnostic imaging | Limb Deformities, Congenital - genetics | Spine - abnormalities | Amniotic Band Syndrome - complications | Heart Septal Defects, Atrial - complications | Congenital Bone Marrow Failure Syndromes - genetics | Trisomy 13 Syndrome - complications | Female | Amniotic Band Syndrome - diagnosis | Carpal Bones - diagnostic imaging | Trachea - abnormalities | Amniocentesis | Trisomy 13 Syndrome - genetics | Diagnosis, Differential | Lower Extremity Deformities, Congenital - diagnosis | Radius - abnormalities | Esophagus - abnormalities | Upper Extremity Deformities, Congenital - complications | Upper Extremity Deformities, Congenital - genetics | Congenital Bone Marrow Failure Syndromes - diagnosis | Anal Canal - abnormalities | Pregnancy | Limb Deformities, Congenital - diagnosis | Fanconi Anemia - diagnosis | Ultrasonography, Prenatal | Trisomy 18 Syndrome - genetics | Limb Deformities, Congenital - complications | Thrombocytopenia - diagnosis | Thumb - abnormalities | Abnormalities, Drug-Induced - diagnosis | Index Medicus | Abridged Index Medicus
Journal Article
The Journal of craniofacial surgery, ISSN 1049-2275, 03/2018, Volume 29, Issue 2, pp. 372 - 375
Ear auricle | goldenhar syndrome | mandibulofacial dysostosis | Life Sciences & Biomedicine | Surgery | Science & Technology | Abnormalities, Multiple - pathology | Humans | Esophagus - abnormalities | Hearing Loss, Sensorineural | Mandibulofacial Dysostosis | Anal Canal - abnormalities | Spine - abnormalities | Ear, External - abnormalities | Branchial Region - abnormalities | Abnormalities, Multiple - therapy | Kidney - abnormalities | Heart Defects, Congenital | Abnormalities, Multiple - diagnosis | Anus, Imperforate | Thumb - abnormalities | Goldenhar Syndrome | Limb Deformities, Congenital | Trachea - abnormalities | Dentistry
Journal Article
Journal of medical genetics, ISSN 0022-2593, 03/2011, Volume 48, Issue 3, pp. 197 - 204
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Gynecology. Andrology. Obstetrics | Biological and medical sciences | Medical sciences | Chromosome Deletion | Congenital Abnormalities - epidemiology | 46, XX Disorders of Sex Development - genetics | Genetic Testing | Humans | Vagina - abnormalities | Uterus - abnormalities | 46, XX Disorders of Sex Development - epidemiology | Syndrome | DNA Copy Number Variations | Incidence | Spine - abnormalities | Young Adult | Mullerian Ducts - abnormalities | Congenital Abnormalities - genetics | Kidney - abnormalities | Adolescent | Somites - abnormalities | Abnormalities, Multiple - epidemiology | Adult | Female | Abnormalities, Multiple - genetics | Cohort Studies | Quantitative trait loci | Genetic aspects | Research | Genetic variation | Genital diseases, Female | Index Medicus
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