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1. Full Text Positive predictive value estimates for cell-free noninvasive prenatal screening from data of a large referral genetic diagnostic laboratory
by Petersen, Andrea K and Cheung, Sau Wai and Smith, Janice L and Bi, Weimin and Ward, Patricia A and Peacock, Sandra and Braxton, Alicia and Van Den Veyver, Ignatia B and Breman, Amy M
American journal of obstetrics and gynecology, ISSN 0002-9378, 12/2017, Volume 217, Issue 6, pp. 691.e1 - 691.e6
amniocentesis | trisomy 13 | trisomy 21 | 47,XXY | noninvasive prenatal testing | noninvasive prenatal screening | 47,XXX | 47,XYY | cell-free DNA | NIPT | prenatal diagnosis | microdeletion syndrome | trisomy 18 | Life Sciences & Biomedicine | Obstetrics & Gynecology | Science & Technology | Chromosome Disorders - blood | Predictive Value of Tests | Turner Syndrome - blood | Cri-du-Chat Syndrome - diagnosis | Humans | Angelman Syndrome - diagnosis | Sex Chromosome Disorders of Sex Development - genetics | Turner Syndrome - diagnosis | Sex Chromosome Disorders of Sex Development - blood | Trisomy 18 Syndrome - diagnosis | Cri-du-Chat Syndrome - genetics | Klinefelter Syndrome - blood | Klinefelter Syndrome - genetics | Sex Chromosome Aberrations | Microarray Analysis | Karyotyping | Down Syndrome - blood | Angelman Syndrome - genetics | Chorionic Villi Sampling | Chromosome Disorders - diagnosis | Prader-Willi Syndrome - genetics | Female | Down Syndrome - diagnosis | Amniocentesis | Prader-Willi Syndrome - diagnosis | Trisomy 13 Syndrome - genetics | Chromosomes, Human, X - genetics | Prader-Willi Syndrome - blood | Prenatal Diagnosis | In Situ Hybridization, Fluorescence | Cri-du-Chat Syndrome - blood | Pregnancy | Trisomy 18 Syndrome - blood | Sex Chromosome Disorders of Sex Development - diagnosis | Trisomy - diagnosis | Trisomy - genetics | Trisomy 13 Syndrome - blood | Cell-Free Nucleic Acids - blood | Trisomy 18 Syndrome - genetics | Down Syndrome - genetics | Klinefelter Syndrome - diagnosis | Turner Syndrome - genetics | Angelman Syndrome - blood | Trisomy 13 Syndrome - diagnosis | Chromosome Disorders - genetics | DNA microarrays | Medical screening | Pregnant women | Chromosomes | Analysis | Index Medicus | Abridged Index Medicus
Journal Article
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2. Prader-Willi Syndrome
: development and manifestations
by Whittington, Joyce and Holland, Tony, 1948 and Prader-Willi Syndrome Association
2004, ISBN 0521840295, x, 220
Prader-Willi syndrome
Book
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3. Full Text Accelerometer-determined physical activity and walking capacity in persons with Down syndrome, Williams syndrome and Prader–Willi syndrome
by Nordstrøm, Marianne and Hansen, Bjørge Herman and Paus, Benedicte and Kolset, Svein Olav
Research in developmental disabilities, ISSN 0891-4222, 12/2013, Volume 34, Issue 12, pp. 4395 - 4403
Accelerometer | Six-minute walk test | Down syndrome | Prader–Willi syndrome | Physical activity | Williams syndrome | Prader-Willi syndrome | Education & Educational Research | Social Sciences | Rehabilitation | Life Sciences & Biomedicine | Education, Special | Science & Technology | Obesity | Complex syndromes | Medical genetics | Biological and medical sciences | Metabolic diseases | Medical sciences | Chromosome aberrations | Body Mass Index | Motor Activity - physiology | Williams Syndrome - complications | Overweight - complications | Obesity - complications | Humans | Middle Aged | Male | Down Syndrome - physiopathology | Prader-Willi Syndrome - complications | Walking - physiology | Activities of Daily Living | Young Adult | Exercise Test | Prader-Willi Syndrome - physiopathology | Adolescent | Williams Syndrome - physiopathology | Down Syndrome - complications | Adult | Female | Exercise - physiology | Accelerometry | Walking | Physical fitness | Sports sciences | Statistics | Index Medicus
Journal Article
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4. Full Text Prader-Willi syndrome
by Cassidy, Suzanne B and Schwartz, Stuart and Miller, Jennifer L and Driscoll, Daniel J
Genetics in medicine, ISSN 1098-3600, 2012, Volume 14, Issue 1, pp. 10 - 26
imprinting | Prader-Willi syndrome | hypotonia | obesity | uniparental disomy | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Prader-Willi Syndrome - epidemiology | Prader-Willi Syndrome - diagnosis | Diagnosis, Differential | Genetic Testing | Genetic Association Studies | Humans | Prader-Willi Syndrome - genetics | Prader-Willi Syndrome - therapy | Genetic Counseling | Morbidity | Index Medicus
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5. Journal of intellectual disability research
: JIDR
Royal Society for Mentally Handicapped Children and Adults
Journal of intellectual disability research, ISSN 1365-2788, 1992
Periodicals | Mental retardation | Research
Journal
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6. American journal on mental retardation
: AJMR
American Association on Mental Retardation
American journal on mental retardation, ISSN 0895-8017, 1987
Periodicals | Mental retardation
Journal
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7. American journal on intellectual and developmental disabilities
American Association on Intellectual and Developmental Disabilities
American journal on intellectual and developmental disabilities, ISSN 1944-7515, 2009
Mental retardation | People with mental disabilities | Developmental disabilities
Journal
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8. Full Text Brief Report: Repetitive Behaviour Profiles in Williams syndrome: Cross Syndrome Comparisons with Prader–Willi and Down syndromes
by Royston, R and Royston, R and Oliver, C and Oliver, C and Moss, J and Moss, J and Adams, D and Adams, D and Berg, K and Berg, K and Burbidge, C and Burbidge, C and Howlin, P and Howlin, P and Nelson, L and Nelson, L and Stinton, C and Stinton, C and Waite, J and Waite, J
Journal of autism and developmental disorders, ISSN 0162-3257, 1/2018, Volume 48, Issue 1, pp. 326 - 331
Pediatrics | Child and School Psychology | Neurosciences | Public Health | Repetitive behaviour | Psychology | Prader–Willi syndrome | Down syndrome | Williams syndrome | Psychology, Developmental | Social Sciences | Down Syndrome | Caregivers | Intelligence Quotient | Comparative Analysis | Behavior Problems | Questionnaires | Genetics | Adults | Genetic Disorders | Prader-Willi Syndrome - epidemiology | Stereotyped Behavior - physiology | Prader-Willi Syndrome - diagnosis | Stereotypic Movement Disorder - epidemiology | Caregivers - psychology | Humans | Middle Aged | Down Syndrome - epidemiology | Male | Williams Syndrome - psychology | Young Adult | Prader-Willi Syndrome - psychology | Williams Syndrome - diagnosis | Stereotypic Movement Disorder - diagnosis | Adolescent | Williams Syndrome - epidemiology | Cognition - physiology | Adult | Female | Surveys and Questionnaires | Down Syndrome - diagnosis | Stereotypic Movement Disorder - psychology | Down Syndrome - psychology | Williams' syndrome | Intelligence tests | Down's syndrome | Hoarding | Cognitive-Behavioural factors | Cognitive ability | Behavior | Index Medicus
Journal Article
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9. Exceptional children
Council for Exceptional Children
Exceptional children, 1934
Exceptional children | Periodicals
Journal
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10. Full Text Prader-Willi syndrome
by Cassidy, Suzanne B and Driscoll, Daniel J
European journal of human genetics : EJHG, ISSN 1018-4813, 01/2009, Volume 17, Issue 1, pp. 3 - 13
Biochemistry & Molecular Biology | Genetics & Heredity | Life Sciences & Biomedicine | Science & Technology | Fundamental and applied biological sciences. Psychology | Classical genetics, quantitative genetics, hybrids | Human | General aspects. Genetic counseling | Obesity | Medical genetics | Biological and medical sciences | Metabolic diseases | Molecular and cellular biology | Genetics of eukaryotes. Biological and molecular evolution | Medical sciences | Humans | Child, Preschool | Prader-Willi Syndrome - therapy | Infant | Male | Developmental Disabilities - genetics | Genetic Counseling | Obesity - genetics | Psychotic Disorders - therapy | Young Adult | Human Growth Hormone - therapeutic use | Muscle Hypotonia - therapy | Prader-Willi Syndrome - physiopathology | Prader-Willi Syndrome - genetics | Adult | Female | Child | Prader-Willi Syndrome - diagnosis | Muscle Hypotonia - genetics | Chromosomes, Human, Pair 15 - genetics | Developmental Disabilities - therapy | Child Behavior Disorders - therapy | Phenotype | Psychotic Disorders - genetics | Adolescent | Obesity - therapy | Hypogonadism - therapy | Child Behavior Disorders - genetics | Index Medicus | mental retardation | imprinting | DNA methylation | Practical Genetics | genetic obesity | Prader–Willi syndrome | growth hormone
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11. Management of Prader-Willi syndrome
by Butler, Merlin and Lee, Phillip D. K and Whitman, Barbara Y
2006, 3rd ed., ISBN 0387253971, xxiii, 550
Prader-Willi syndrome
Book
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