X
Search Filters
Format Format
Format Format
X
Sort by Item Count (A-Z)
Filter by Count
Journal Article (352) 352
Publication (28) 28
Book / eBook (7) 7
Book Review (4) 4
Book Chapter (2) 2
Conference Proceeding (1) 1
Dissertation (1) 1
Government Document (1) 1
more...
Subjects Subjects
Subjects Subjects
X
Sort by Item Count (A-Z)
Filter by Count
humans (257) 257
genetics & heredity (169) 169
contiguous gene syndrome (165) 165
male (157) 157
female (154) 154
index medicus (108) 108
child (89) 89
chromosome deletion (89) 89
syndrome (86) 86
phenotype (84) 84
gene deletion (69) 69
adult (68) 68
child, preschool (62) 62
infant (55) 55
adolescent (54) 54
abnormalities, multiple - genetics (52) 52
mutation (48) 48
mutations (48) 48
contiguous gene syndromes (44) 44
deletion (44) 44
intellectual disability - genetics (43) 43
interstitial deletion (42) 42
genes (40) 40
pediatrics (38) 38
infant, newborn (35) 35
mental-retardation (35) 35
in situ hybridization, fluorescence (34) 34
pedigree (32) 32
tuberous sclerosis complex (32) 32
genetic aspects (31) 31
contiguous gene deletion (30) 30
contiguous gene deletion syndrome (30) 30
karyotyping (28) 28
genetics (27) 27
diagnosis (26) 26
biochemistry & molecular biology (25) 25
chromosome mapping (25) 25
tuberous sclerosis (25) 25
contiguous-gene syndrome (23) 23
gene (23) 23
microdeletion (23) 23
mental retardation (22) 22
animals (21) 21
base sequence (21) 21
middle aged (20) 20
x chromosome (20) 20
comparative genomic hybridization (19) 19
disease (19) 19
p11.2p11.2 (19) 19
pathology (19) 19
polycystic kidney-disease (19) 19
angiomyolipoma (18) 18
children (18) 18
chromosome banding (18) 18
patients (18) 18
polycystic kidney disease (18) 18
research (18) 18
young adult (18) 18
clinical neurology (17) 17
genotype (17) 17
ichthyosis (17) 17
mice (17) 17
molecular sequence data (17) 17
sequence deletion (17) 17
smith-magenis syndrome (17) 17
analysis (16) 16
chromosome (16) 16
chromosome disorders (16) 16
tuberous sclerosis - genetics (16) 16
chromosome aberrations - genetics (15) 15
deletions (15) 15
identification (15) 15
chromosomes, human, pair 17 (14) 14
chromosomes, human, pair 17 - genetics (14) 14
distal short arm (14) 14
fish (14) 14
genomics (14) 14
medicine, research & experimental (14) 14
polymerase chain reaction (14) 14
translocation (14) 14
article (13) 13
chondrodysplasia punctata (13) 13
contiguous-gene-syndrome (13) 13
disorders (13) 13
family (13) 13
genetic disorders (13) 13
mosaicism (13) 13
patient (13) 13
region (13) 13
research article (13) 13
short arm (13) 13
tsc2 (13) 13
tumor suppressor proteins - genetics (13) 13
x-linked ichthyosis (13) 13
abnormalities (12) 12
diagnosis, differential (12) 12
dna (12) 12
transcription factors - genetics (12) 12
17p11.2 (11) 11
autism (11) 11
more...
Library Location Library Location
Language Language
Publication Date Publication Date
Click on a bar to filter by decade
Slide to change publication date range


2012, Developmental Cognitive Neuroscience, ISBN 9780195385373, cm.
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... 
Biology, life sciences | Williams syndrome | cognitive psychology | Cognition disorders | Space | Dorsal Stream | Object Recognition | Navigation | Language | Ventral Stream | Genes | Development | Williams Syndrome | Cognition
Book
European Journal of Medical Genetics, ISSN 1769-7212, 11/2019, Volume 62, Issue 11, p. 103565
Hereditary hemorrhagic telangiectasia is usually linked to the presence of a pathogenic mutation ACVRL1 or ENG. Thus, apparently there is no benefit to perform... 
Contiguous gene syndrome | ACVRL1 | Deletion | Hereditary hemorrhagic telangiectasia | SCN8A | PROTEIN | ENDOGLIN | MUTATION | GENETICS & HEREDITY | MIRROR MOVEMENTS | EPILEPTIC ENCEPHALOPATHY
Journal Article
Journal Article
Pathology - Research and Practice, ISSN 0344-0338, 04/2017, Volume 213, Issue 4, pp. 410 - 415
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
2012, Oxford series in developmental cognitive neuroscience, ISBN 9780199594818, xii, 394 p., [7] p. of plates
Nowadays, it is widely accepted that there is no single influence (be it nature or nurture) on cognitive development. Cognitive abilities emerge as a result of... 
Developmental neurobiology | Cognition | Developmental disabilities | Developmental psychology | Williams syndrome | Biology, life sciences | social psychology | Domains | Brain networks | Social interaction | Cross-syndrome comparisons | Cognitive development | Environmental influences | Gene expression
Book
American Journal of Surgical Pathology, ISSN 0147-5185, 2002, Volume 26, Issue 2, pp. 198 - 205
Journal Article
NEFROLOGIA, ISSN 0211-6995, 01/2017, Volume 37, Issue 1, pp. 87 - 92
We report the case of a 32-year-old male diagnosed with TSC2/PKD1 contiguous gene syndrome, presenting with tuberous sclerosis (TS) and autosomal dominant... 
Contiguous gene syndrome | EVEROLIMUS | POLYCYSTIC KIDNEY-DISEASE | Tuberous sclerosis | TSC2 | TSC2/PKD1 | PKD1 | MTOR | ADPKD | TUBEROUS SCLEROSIS COMPLEX | Autosomal dominant polycystic kidney disease | mTOR inhibitors | UROLOGY & NEPHROLOGY | Angiomyolipoma
Journal Article
2004, Language acquisition & language disorders, ISBN 1588114945, Volume 36, xv, 383
Book
NEFROLOGIA (English Edition), ISSN 2013-2514, 01/2017, Volume 37, Issue 1, pp. 87 - 92
We report the case of a 32-year-old male diagnosed with TSC2/PKD1 contiguous gene syndrome, presenting with tuberous sclerosis (TS) and autosomal dominant... 
Contiguous gene syndrome | Esclerosis tuberosa | Tuberous sclerosis | Inhibidores de mTOR | TSC2/PKD1 | Poliquistosis renal autosómica dominante | Síndrome de genes contiguos | ADPKD | Autosomal dominant polycystic kidney disease | Angiomiolipoma | mTOR inhibitors | PQRAD | Angiomyolipoma
Journal Article
International Journal of Clinical and Experimental Medicine, ISSN 1940-5901, 04/2017, Volume 10, Issue 4, pp. 7266 - 7272
A 17-year-old Han male child in China was reported with adrenal hypoplasia congenita and hypogonadotropic hypogonadism associated with mental retardation... 
Contiguous gene syndrome | Adrenal hypoplasia congenita | DAX1 | Mental retardation | IL1RAPL | adrenal hypoplasia congenita | NR5A1 | MEDICINE, RESEARCH & EXPERIMENTAL | contiguous gene syndrome | INSUFFICIENCY | NR0B1 | MUTATIONS
Journal Article
Nefrologia : publicacion oficial de la Sociedad Espanola Nefrologia, 01/2017, Volume 37, Issue 1, pp. 87 - 92
We report the case of a 32-year-old male diagnosed with TSC2/PKD1 contiguous gene syndrome, presenting with tuberous sclerosis (TS) and autosomal dominant... 
Contiguous gene syndrome | Esclerosis tuberosa | Inhibidores de mTOR | Tuberous sclerosis | TSC2/PKD1 | Poliquistosis renal autosómica dominante | Síndrome de genes contiguos | ADPKD | Angiomiolipoma | Autosomal dominant polycystic kidney disease | mTOR inhibitors | PQRAD | Angiomyolipoma | Kidney Neoplasms - genetics | Kidney - pathology | Tuberous Sclerosis - complications | Humans | Immunosuppressive Agents - therapeutic use | Tuberous Sclerosis - surgery | Kidney Diseases, Cystic - diagnostic imaging | Hematoma - etiology | Male | Embolization, Therapeutic | Kidney Neoplasms - surgery | Kidney - diagnostic imaging | Polycystic Kidney, Autosomal Dominant - genetics | Tumor Suppressor Proteins - genetics | Kidney Diseases, Cystic - genetics | Adult | Interferon-gamma - genetics | Interferon-gamma - deficiency | Kidney Neoplasms - complications | Angiomyolipoma - complications | Tuberous Sclerosis - diagnostic imaging | Angiomyolipoma - diagnostic imaging | Hematoma - diagnostic imaging | Kidney Diseases, Cystic - surgery | Kidney Transplantation | Angiomyolipoma - genetics | Syndrome | TRPP Cation Channels - genetics | Tuberous Sclerosis - genetics | Kidney Neoplasms - diagnostic imaging | Hematoma - pathology | Angiomyolipoma - surgery | Kidney Diseases, Cystic - complications | Polycystic Kidney, Autosomal Dominant - surgery | Polycystic Kidney, Autosomal Dominant - complications
Journal Article
American Journal of Dermatopathology, ISSN 0193-1091, 08/2009, Volume 31, Issue 6, pp. 532 - 541
Journal Article