X
Search Filters
Format Format
Format Format
X
Sort by Item Count (A-Z)
Filter by Count
Journal Article (701) 701
Book Review (197) 197
Publication (151) 151
Book / eBook (36) 36
Conference Proceeding (3) 3
Book Chapter (2) 2
Magazine Article (2) 2
Dissertation (1) 1
more...
Subjects Subjects
Subjects Subjects
X
Sort by Item Count (A-Z)
Filter by Count
index medicus (659) 659
humans (589) 589
urogenital system (410) 410
male (384) 384
female (381) 381
animals (197) 197
urology & nephrology (183) 183
adult (178) 178
urologic and male genital diseases (122) 122
middle aged (120) 120
child (115) 115
adolescent (104) 104
child, preschool (99) 99
risk factors (98) 98
urology (95) 95
research (91) 91
kidney - physiopathology (89) 89
abridged index medicus (87) 87
pediatrics (84) 84
urogenital abnormalities - physiopathology (84) 84
bladder (81) 81
infant (80) 80
aged (79) 79
pregnancy (78) 78
article (77) 77
female genital diseases and pregnancy complications (77) 77
medicine (75) 75
treatment outcome (74) 74
mice (72) 72
kidneys (68) 68
retrospective studies (68) 68
kidney diseases (67) 67
physiology (65) 65
rodents (65) 65
infant, newborn (64) 64
health aspects (61) 61
diagnosis (59) 59
obstetrics & gynecology (59) 59
research article (59) 59
surgery (58) 58
analysis (57) 57
urine (57) 57
urogenital abnormalities (57) 57
mutation (55) 55
rats (55) 55
children (54) 54
disease models, animal (53) 53
glomerular filtration rate (53) 53
medicine & public health (53) 53
studies (53) 53
urodynamics (53) 53
nephrology (50) 50
physiological aspects (50) 50
multidisciplinary sciences (49) 49
prognosis (49) 49
proteins (49) 49
care and treatment (48) 48
urinary incontinence (48) 48
women (48) 48
young adult (48) 48
urogenital abnormalities - surgery (47) 47
patients (46) 46
science (46) 46
disease (45) 45
follow-up studies (45) 45
kidney - abnormalities (43) 43
hypertension (42) 42
urogenital abnormalities - diagnosis (42) 42
diseases (41) 41
urinary tract (41) 41
endocrine system (40) 40
urinary tract diseases (38) 38
age (37) 37
management (37) 37
medical research (37) 37
urinary tract infections (37) 37
development and progression (36) 36
genetic aspects (36) 36
infertility (35) 35
genetics & heredity (34) 34
urinary bladder - physiopathology (34) 34
reproductive biology (33) 33
urogenital abnormalities - complications (33) 33
urogenital abnormalities - genetics (33) 33
cell biology (32) 32
mutations (32) 32
time factors (32) 32
ultrasonography (32) 32
medicine, general & internal (31) 31
risk assessment (31) 31
aged, 80 and over (30) 30
expression (30) 30
kidney (30) 30
kidney - pathology (30) 30
phenotype (30) 30
infertility, male - physiopathology (29) 29
original (29) 29
prevalence (29) 29
prospective studies (29) 29
signal transduction (29) 29
more...
Library Location Library Location
Library Location Library Location
X
Sort by Item Count (A-Z)
Filter by Count
Gerstein Science - Stacks (28) 28
Scarborough Hospital - General (2) 2
Collection Dvlpm't (Acquisitions) - Closed Orders (1) 1
Collection Dvlpm't (Acquisitions) - Vendor file (1) 1
Holland Bloorview Kids Rehabilitation - Stacks (1) 1
Online Resources - Online (1) 1
Toronto East General Hospital - Stacks (1) 1
Women's College Hospital - Stacks (1) 1
more...
Language Language
Language Language
X
Sort by Item Count (A-Z)
Filter by Count
English (709) 709
Japanese (8) 8
French (6) 6
Russian (5) 5
Italian (4) 4
Spanish (4) 4
Czech (2) 2
Portuguese (2) 2
Hungarian (1) 1
Polish (1) 1
more...
Publication Date Publication Date
Click on a bar to filter by decade
Slide to change publication date range


American Journal of Medical Genetics Part A, ISSN 1552-4825, 02/2018, Volume 176, Issue 2, pp. 455 - 459
KAT6B sequence variants have been identified in both patients with the Say-Barber-Biesecker-Young-Simpson syndrome (SBBYSS) and in the genitopatellar syndrome... 
skeletal anomalies | related disorders | KAT6B | focused exome sequencing | KAT6B-related disorders | RETARDATION | GENETICS & HEREDITY | HISTONE ACETYLTRANSFERASE | MUTATIONS | PHENOTYPIC SPECTRUM | Patella - physiopathology | Scrotum - abnormalities | Scrotum - physiopathology | Exons | Humans | Joint Instability - genetics | Histone Acetyltransferases - genetics | Craniofacial Abnormalities - physiopathology | Intellectual Disability - genetics | Blepharophimosis - genetics | Heart Defects, Congenital - genetics | Psychomotor Disorders - genetics | Congenital Hypothyroidism - genetics | Facies | Patella - abnormalities | Female | Psychomotor Disorders - physiopathology | Urogenital Abnormalities - physiopathology | Child | Abnormalities, Multiple - genetics | Craniofacial Abnormalities - genetics | Kidney - physiopathology | Haploinsufficiency - genetics | Genetic Association Studies | Congenital Hypothyroidism - physiopathology | Abnormalities, Multiple - physiopathology | Intellectual Disability - physiopathology | Phenotype | Kidney - abnormalities | Alleles | Heart Defects, Congenital - physiopathology | Mutation | Joint Instability - physiopathology | Blepharophimosis - physiopathology | Urogenital Abnormalities - genetics | Medical genetics | Intellectual disabilities | Genotypes | Haploinsufficiency | Index Medicus
Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 11/2017, Volume 173, Issue 11, pp. 2873 - 2885
Cloacal exstrophy (CE) and persistent cloaca (PC) (alternatively termed urorectal septum malformation sequence [URSMS]), represent two major cloacal defects... 
urorectal septum malformation sequence | cloacal exstrophy | OEIS complex | omphalocele | persistent cloaca | imperforate anus | population‐based study | population-based study | NEURAL-TUBE DEFECTS | CONJOINED TWINS | EXSTROPHY-EPISPADIAS COMPLEX | MONOZYGOTIC TWINS | ANUS-SPINAL DEFECTS | GENETICS & HEREDITY | IDENTICAL-TWINS | SEPTUM MALFORMATION SEQUENCE | OF-THE-LITERATURE | Congenital Abnormalities - epidemiology | Urogenital Abnormalities - epidemiology | Humans | Congenital Abnormalities - physiopathology | Infant | Male | Hernia, Umbilical - diagnosis | Hernia, Umbilical - physiopathology | Congenital Abnormalities - diagnosis | Bladder Exstrophy - diagnosis | Scoliosis - physiopathology | Abnormalities, Multiple - epidemiology | Adult | Cloaca - physiopathology | Female | Urogenital Abnormalities - physiopathology | Anus, Imperforate - diagnosis | Infant, Newborn | Scoliosis - epidemiology | Urogenital Abnormalities - diagnosis | Risk Factors | Hernia, Umbilical - epidemiology | Bladder Exstrophy - epidemiology | Abnormalities, Multiple - physiopathology | Pregnancy | Anus, Imperforate - physiopathology | Abnormalities, Multiple - diagnosis | Bladder Exstrophy - physiopathology | Anus, Imperforate - epidemiology | Scoliosis - diagnosis | Prevention | Birth defects | Reproduction | Factor analysis | Congenital defects | Septum | Reproductive technologies | Progesterone | Birth | Health risk assessment | Risk factors | Folic acid | Index Medicus
Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 05/2017, Volume 173, Issue 5, pp. 1369 - 1373
Journal Article
Gene, ISSN 0378-1119, 07/2019, Volume 706, pp. 62 - 68
Journal Article
Journal Article
Journal of Endocrinological Investigation, ISSN 0391-4097, 2/2016, Volume 39, Issue 2, pp. 227 - 233
Blepharophimosis syndrome (BPES) is an autosomal dominant genetic condition resulting from heterozygous mutations in the FOXL2 gene and clinically... 
Ovarian dysfunction | Genetic counseling | Medicine & Public Health | Metabolic Diseases | Blepharophimosis–ptosis–epicanthus inversus syndrome | FOXL2 | Genotype–phenotype correlation | Medicine/Public Health, general | Endocrinology | Blepharophimosis-ptosis-epicanthus inversus syndrome | Genotype-phenotype correlation | FORKHEAD TRANSCRIPTION | TRANSCRIPTION FACTOR FOXL2 | WOMAN | BPES PATIENTS | PREMATURE OVARIAN INSUFFICIENCY | GENE | TRANSACTIVATION | ENDOCRINOLOGY & METABOLISM | MUTATIONS | DYSFUNCTION | AGGREGATION | Gene Duplication | Skin Abnormalities - surgery | Humans | Eyelids - abnormalities | Mutation, Missense | Hormone Replacement Therapy | Young Adult | Blepharophimosis - genetics | DNA Mutational Analysis | Amenorrhea - etiology | Adult | Female | Ovary - drug effects | Blepharophimosis - surgery | Skin Abnormalities - drug therapy | Urogenital Abnormalities - physiopathology | Urogenital Abnormalities - drug therapy | Forkhead Box Protein L2 | Blepharophimosis - drug therapy | Skin Abnormalities - physiopathology | Genetic Association Studies | Combined Modality Therapy | Forkhead Transcription Factors - genetics | Amenorrhea - prevention & control | Menarche - drug effects | Urogenital Abnormalities - surgery | Pedigree | Italy | Primary Ovarian Insufficiency - prevention & control | Skin Abnormalities - genetics | Primary Ovarian Insufficiency - etiology | Blepharophimosis - physiopathology | Amino Acid Substitution | Ovary - physiopathology | Urogenital Abnormalities - genetics | Index Medicus
Journal Article
Journal Article
Fertility and Sterility, ISSN 0015-0282, 04/2018, Volume 109, Issue 4, pp. 638 - 643
Journal Article
Journal Article