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1. PRADER-WILLI SYNDROME: DEVELOPMENT AND MANIFESTATIONS
by WHITTINGTON, JOYCE
2004, ISBN 0521840295, 232
Prader-Willi syndrome
Book
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2. Understanding Williams syndrome
: behavioral patterns and interventions
by Semel, Eleanor Messing and Rosner, Sue R
2003, ISBN 0805826181, xxi, 456
Williams syndrome | Psychiatry & Clinical Psychology - Adult | Mathematics | Inclusion and Special Educational Needs | Cognition disorders in children | Elementary Secondary Education | Language Skills | Perceptual Motor Coordination | Spatial Ability | Congenital Impairments | Language Acquisition | Mental Retardation | Profiles | Williams Syndrome | Children | Social Development | Interpersonal Competence
Book
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3. Neurodevelopmental disorders across the lifespan
: a neuroconstructivist approach
by Farran, Emily K and Karmiloff-Smith, Annette
2012, Oxford series in developmental cognitive neuroscience, ISBN 9780199594818, xii, 394 p., [7] p. of plates
Developmental neurobiology | Cognition | Developmental disabilities | Developmental psychology | Williams syndrome | Social Psychology | Developmental Psychology | Domains | Brain networks | Social interaction | Cross-syndrome comparisons | Cognitive development | Environmental influences | Gene expression
Book
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4. Management of Prader-Willi syndrome
by Butler, Merlin G and Lee, Phillip D. K and Whitman, Barbara Y
2006, 3rd ed., ISBN 0387253971, xxiii, 550
Prader-Willi syndrome
Book
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5. Spatial representation
: from gene to mind
by Landau, Barbara
2012, Oxford Series in Developmental Cognitive Neuroscience, ISBN 9780195385373, cm.
Cognitive Psychology | Cognition disorders | Williams syndrome | Space | Dorsal Stream | Object Recognition | Navigation | Language | Ventral Stream | Genes | Development | Williams Syndrome | Cognition
Book
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6. The boy who loved too much
: a true story of pathological friendliness
by Latson, Jennifer, author
2017, First Simon & Schuster hardcover edition., ISBN 9781476774053, x, 290 pages
Parenting | Friends | Trust | Patients | PSYCHOLOGY | Williams syndrome | FAMILY & RELATIONSHIPS | People with Disabilities | SOCIAL SCIENCE | Friendship in children | Neuropsychology | Social interaction in children | Child | Interpersonal Relations
Book
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7. Fanconi Syndrome
by Foreman, John W
The Pediatric clinics of North America, ISSN 0031-3955, 02/2019, Volume 66, Issue 1, pp. 159 - 167
Cystinosis | Lowe syndrome | Proximal tubule | Dent disease | Fanconi syndrome | Life Sciences & Biomedicine | Pediatrics | Science & Technology | Fanconi Syndrome - diagnosis | Diagnosis, Differential | Child | Fanconi Syndrome - therapy | Humans
Journal Article
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8. Full Text Fragile X syndrome
by Garber, Kathryn B and Visootsak, Jeannie and Warren, Stephen T
European journal of human genetics : EJHG, ISSN 1018-4813, 06/2008, Volume 16, Issue 6, pp. 666 - 672
Biochemistry & Molecular Biology | Genetics & Heredity | Life Sciences & Biomedicine | Science & Technology | Fundamental and applied biological sciences. Psychology | General aspects. Genetic counseling | Chromosome fragility (bloom syndrome, ataxia telangiectasia, fanconi anemia, x-linked mental retardation...) | Medical genetics | Biological and medical sciences | Molecular and cellular biology | Genetics of eukaryotes. Biological and molecular evolution | Medical sciences | Autistic Disorder - genetics | Fragile X Syndrome - genetics | Fragile X Syndrome - physiopathology | Fragile X Syndrome - psychology | Humans | Fragile X Mental Retardation Protein - genetics | Mutation | Neurosciences | Synaptic strength | Intellectual disabilities | Îą-Amino-3-hydroxy-5-methyl-4-isoxazole propionic acid receptors | Mental retardation | Proteins | Fragile X mental retardation protein | Îą-Amino-3-hydroxy-5-methyl-4-isoxazole propionic acid | Genetics | Dendrites | Behavior | Protein transport | Phenotypes | Protein biosynthesis | Ribonucleic acid--RNA | Emotions | Hereditary diseases | Autism | Gene silencing | RNA-binding protein | Genetic counseling | Mood | 5' Untranslated Regions | Fragile X syndrome | Index Medicus | full mutation | FMR1 | autism | permutation
Journal Article
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9. Full Text Drug-induced renal fanconi syndrome
by Hall, A.M and Bass, P and Unwin, R.J
QJM : monthly journal of the Association of Physicians, ISSN 1460-2725, 2014, Volume 107, Issue 4, pp. 261 - 269
Medicine, General & Internal | Life Sciences & Biomedicine | General & Internal Medicine | Science & Technology | Fanconi Syndrome - diagnosis | Fanconi Syndrome - epidemiology | Prognosis | Fanconi Syndrome - therapy | Humans | Risk Factors | Kidney Function Tests - methods | Drug Monitoring - methods | Fanconi Syndrome - chemically induced | Index Medicus
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10. Full Text Oxidative stress, mitochondrial abnormalities and antioxidant defense in Ataxia-telangiectasia, Bloom syndrome and Nijmegen breakage syndrome
by Maciejczyk, Mateusz and Mikoluc, Bozena and Pietrucha, Barbara and Heropolitanska - Pliszka, Edyta and Pac, Malgorzata and Motkowski, Radosław and Car, Halina
Redox biology, ISSN 2213-2317, 04/2017, Volume 11, pp. 375 - 383
Antioxidants | Oxidative stress | Nijmegen breakage syndrome (NBS) | Oxidative damage | Bloom syndrome (BS) | Ataxia-telangiectasia (A-T) | Life Sciences & Biomedicine | Biochemistry & Molecular Biology | Science & Technology | Bloom Syndrome - pathology | Nijmegen Breakage Syndrome - pathology | NADPH Oxidase 4 - genetics | Reactive Oxygen Species - metabolism | Signal Transduction | Humans | Nijmegen Breakage Syndrome - metabolism | Gene Expression Regulation | Oxidative Stress - genetics | Bloom Syndrome - metabolism | Ataxia Telangiectasia - metabolism | Mitochondria - metabolism | Bloom Syndrome - genetics | Mitochondria - pathology | Lipoproteins, LDL - genetics | Nijmegen Breakage Syndrome - genetics | NADPH Oxidase 4 - metabolism | Poly(ADP-ribose) Polymerases - metabolism | Poly(ADP-ribose) Polymerases - genetics | Ataxia Telangiectasia - pathology | DNA Repair | Ataxia Telangiectasia - genetics | Lipoproteins, LDL - metabolism | DNA Damage | Index Medicus
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11. Full Text Tubulointerstitial nephritis and Fanconi syndrome in a patient with primary SjĂśgren's syndrome accompanied by antimitochondrial antibodies: A case report and review of the literature
by Saeki, Takako and Nakajima, Akihiro and Ito, Tomoyuki and Takata, Takuma and Imai, Naofumi and Yoshita, Kazuhiro and Kabasawa, Hideyuki and Yamazaki, Hajime and Narita, Ichiei
Modern rheumatology, ISSN 1439-7595, 09/2018, Volume 28, Issue 5, pp. 897 - 900
Primary biliary cholangitis | Fanconi syndrome | SjĂśgren's syndrome | Tubulointerstitial nephritis | Antimitochondrial antibodies | Life Sciences & Biomedicine | Rheumatology | Science & Technology | Fanconi Syndrome - blood | Nephritis, Interstitial - blood | Nephritis, Interstitial - complications | Acidosis, Renal Tubular - complications | Autoantibodies - blood | Humans | Middle Aged | Sjogren's Syndrome - immunology | Mitochondria - immunology | Acidosis, Renal Tubular - blood | Fanconi Syndrome - complications | Autoantibodies - immunology | Immunoglobulin M - blood | Acidosis, Renal Tubular - immunology | Sjogren's Syndrome - blood | Female | Fanconi Syndrome - immunology | Sjogren's Syndrome - complications | Nephritis, Interstitial - immunology | Index Medicus
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12. Management of Prader-Willi syndrome
by Alexander, Randell C and Greenswag, Louise R and Prader-Willi Syndrome Association
1995, 2nd ed., ISBN 9780387943732, xxi, 393
Prader-Willi Syndrome
Book
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13. Penetrance of the Fragile X-Associated Tremor/Ataxia Syndrome in a Premutation Carrier Population
by Jacquemont, SĂŠbastien and Hagerman, Randi J and Leehey, Maureen A and Hall, Deborah A and Levine, Richard A and Brunberg, James A and Zhang, Lin and Jardini, Tristan and Gane, Louise W and Harris, Susan W and Herman, Kristin and Grigsby, James and Greco, Claudia M and Berry-Kravis, Elizabeth and Tassone, Flora and Hagerman, Paul J
JAMA : the journal of the American Medical Association, ISSN 0098-7484, 01/2004, Volume 291, Issue 4, pp. 460 - 469
Medicine, General & Internal | Life Sciences & Biomedicine | General & Internal Medicine | Science & Technology | Fragile X Syndrome - genetics | Gait | Humans | Middle Aged | Genotype | Male | California | RNA-Binding Proteins | Nerve Tissue Proteins - genetics | Fragile X Mental Retardation Protein | DNA Repeat Expansion | Neurologic Examination | Pedigree | Tremor - genetics | Aged, 80 and over | Female | Heterozygote | Aged | Ataxia - genetics | Mental retardation | Genes | Mutation
Journal Article
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14. Full Text Tenofovir‐associated Fanconi syndrome and nephrotic syndrome in a patient with chronic hepatitis B monoinfection
by Hwang, Hyeon Seok and Park, Cheol Whee and Song, Myeong Jun
Hepatology (Baltimore, Md.), ISSN 0270-9139, 10/2015, Volume 62, Issue 4, pp. 1318 - 1320
Gastroenterology & Hepatology | Life Sciences & Biomedicine | Science & Technology | Hepatitis B, Chronic - drug therapy | Tenofovir - adverse effects | Tenofovir - therapeutic use | Antiviral Agents - therapeutic use | Antiviral Agents - adverse effects | Humans | Adult | Female | Fanconi Syndrome - chemically induced | Nephrotic Syndrome - chemically induced | Hepatitis | Index Medicus
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15. Full Text Current and future role of genetic screening in gynecologic malignancies
by Ring, Kari L., MD and Garcia, Christine, MD and Thomas, Martha H., MS and Modesitt, Susan C., MD
American journal of obstetrics and gynecology, ISSN 0002-9378, 2017, Volume 217, Issue 5, pp. 512 - 521
Obstetrics and Gynecology | BRCA | risk reduction | screening | ovarian cancer | high risk | endometrial cancer | hereditary cancer | cervical cancer | Lynch syndrome | Life Sciences & Biomedicine | Obstetrics & Gynecology | Science & Technology | Genetic Testing | DNA Polymerase III - genetics | Hereditary Breast and Ovarian Cancer Syndrome - diagnosis | Humans | Li-Fraumeni Syndrome - diagnosis | DNA Mismatch Repair - genetics | Tumor Suppressor Protein p53 - genetics | Genital Neoplasms, Female - diagnosis | Li-Fraumeni Syndrome - genetics | Epithelial Cell Adhesion Molecule - genetics | Genes, BRCA2 | Female | RNA Helicases - genetics | Lynch Syndrome II - genetics | Neoplastic Syndromes, Hereditary - genetics | Genes, BRCA1 | Genital Neoplasms, Female - genetics | Hereditary Breast and Ovarian Cancer Syndrome - genetics | PTEN Phosphohydrolase - genetics | Genetic Predisposition to Disease | Hamartoma Syndrome, Multiple - genetics | Fanconi Anemia Complementation Group Proteins - genetics | Protein-Serine-Threonine Kinases - genetics | Neoplastic Syndromes, Hereditary - diagnosis | MutS Homolog 2 Protein - genetics | DNA-Binding Proteins - genetics | Peutz-Jeghers Syndrome - genetics | Hamartoma Syndrome, Multiple - diagnosis | MutL Protein Homolog 1 - genetics | Peutz-Jeghers Syndrome - diagnosis | Lynch Syndrome II - diagnosis | Mismatch Repair Endonuclease PMS2 - genetics | Gene mutations | Endometrial cancer | Diagnosis | Cervical cancer | Genetic screening | Cancer | Ovarian cancer | Index Medicus | Abridged Index Medicus
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