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2004, ISBN 0521840295, 232
Prader-Willi syndrome (PWS) is associated with an assortment of physical, behavioural and cognitive abnormalities which create a broad range of care needs.... 
Prader-Willi syndrome
Book
2006, 3rd ed., ISBN 0387253971, xxiii, 550
Management of Prader-Willi Syndrome brings together the contributions of professionals with considerable expertise in diagnosis and management of PWS.... 
Prader-Willi syndrome | Clinical & internal medicine | Human Genetics | Pediatrics | Clinical Psychology | Medicine & Public Health | Endocrinology
Book
2012, Developmental Cognitive Neuroscience, ISBN 9780195385373, xv, 375
Our experience of the spatial world is a unitary one; we perceive objects and layouts, we remember them and act on them, and we can even talk about them with... 
Cognition disorders | Williams syndrome | Biology, life sciences | cognitive psychology | Space | Dorsal Stream | Object Recognition | Navigation | Language | Ventral Stream | Genes | Development | Williams Syndrome | Cognition
Book
1988, ISBN 9780387966878, xix, 310
Book
2004, Language acquisition & language disorders, ISBN 1588114945, Volume 36, xv, 383
Book
International Journal of Dermatology, ISSN 0011-9059, 07/2014, Volume 53, Issue 7, pp. 798 - 802
Bloom Syndrome (BS, MIM #210900) is an autosomal recessive genetic disorder caused by a mutation in the BLM gene, which codes for the DNA repair enzyme RecQL3... 
POPULATION | BLM | INSTABILITY | SYNDROME GENE-PRODUCT | MUTATION | CONNECTS | FANCONI-ANEMIA | CANCER | HELICASE | FAMILY | DERMATOLOGY | Diagnosis, Differential | Prognosis | Bloom Syndrome - diagnosis | Bloom Syndrome - genetics | Humans | Bloom Syndrome - therapy | Lymphomas
Journal Article
2017, First Simon & Schuster hardcover edition., ISBN 9781476774053, x, 290 pages
"Twelve-year-old Eli D'Angelo has a genetic disorder that obliterates social inhibitions, making him irrepressibly friendly, indiscriminately trusting, and... 
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
Pediatric Clinics of North America, ISSN 0031-3955, 02/2019, Volume 66, Issue 1, pp. 159 - 167
Fanconi syndrome, also known as the DeToni, Debré, Fanconi syndrome is a global dysfunction of the proximal tubule characterized by glucosuria, phosphaturia,... 
Cystinosis | Lowe syndrome | Proximal tubule | Dent disease | Fanconi syndrome | PROTEIN | PEDIATRICS | NEPHROPATHIC CYSTINOSIS | Fanconi Syndrome - diagnosis | Diagnosis, Differential | Child | Fanconi Syndrome - therapy | Humans
Journal Article
2006, ISBN 0801882125, xiv, 366
Book
American Journal of Obstetrics and Gynecology, ISSN 0002-9378, 2017, Volume 217, Issue 5, pp. 512 - 521
The world of hereditary cancers has seen exponential growth in recent years. While hereditary breast and ovarian cancer and Lynch syndrome account for the... 
Obstetrics and Gynecology | BRCA | risk reduction | screening | ovarian cancer | high risk | endometrial cancer | hereditary cancer | cervical cancer | Lynch syndrome | BRCA2 MUTATION CARRIERS | LI-FRAUMENI SYNDROME | LYNCH-SYNDROME | COLORECTAL-CANCER SYNDROME | PEUTZ-JEGHERS-SYNDROME | RANDOMIZED-TRIAL | REDUCING SALPINGO-OOPHORECTOMY | FAMILIAL OVARIAN-CANCER | OBSTETRICS & GYNECOLOGY | GERMLINE MUTATIONS | 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
Journal Article
Journal Article
QJM, ISSN 1460-2725, 2014, Volume 107, Issue 4, pp. 261 - 269
Journal Article
Hepatology, ISSN 0270-9139, 10/2015, Volume 62, Issue 4, pp. 1318 - 1320
Journal Article
Journal Article
Journal Article