X
Search Filters
Format Format
Subjects Subjects
Subjects Subjects
X
Sort by Item Count (A-Z)
Filter by Count
humans (565) 565
female (369) 369
male (307) 307
acrocephalosyndactylia - diagnosis (239) 239
acrocephalosyndactylia - genetics (233) 233
infant (179) 179
craniosynostosis (177) 177
child (174) 174
child, preschool (169) 169
adult (166) 166
index medicus (160) 160
adolescent (133) 133
surgery (127) 127
apert syndrome (118) 118
infant, newborn (115) 115
acrocephalosyndactylia - diagnostic imaging (113) 113
genetics & heredity (110) 110
acrocephalosyndactylia - complications (104) 104
syndrome (101) 101
acrocephalosyndactylia - surgery (95) 95
acrocephalosyndactylia - pathology (94) 94
mutation (90) 90
phenotype (86) 86
diagnosis, differential (81) 81
mutations (77) 77
pregnancy (72) 72
pediatrics (71) 71
radiography (67) 67
diagnosis (66) 66
acrocephalosyndactylia (63) 63
dentistry (58) 58
fgfr2 (58) 58
retrospective studies (55) 55
craniosynostoses - genetics (52) 52
craniosynostoses - diagnosis (49) 49
follow-up studies (48) 48
receptor, fibroblast growth factor, type 2 - genetics (46) 46
receptors, fibroblast growth factor - genetics (46) 46
children (45) 45
dentistry, oral surgery & medicine (45) 45
tomography, x-ray computed (45) 45
obstetrics & gynecology (43) 43
prenatal diagnosis (43) 43
pedigree (40) 40
saethre-chotzen syndrome (40) 40
pfeiffer syndrome (39) 39
ultrasonography, prenatal (39) 39
craniofacial dysostosis - diagnosis (35) 35
acrocephalosyndactylia - physiopathology (34) 34
dna mutational analysis (34) 34
gene (34) 34
clinical neurology (33) 33
crouzon-syndrome (33) 33
research (33) 33
skull - abnormalities (32) 32
genetic aspects (31) 31
magnetic resonance imaging (31) 31
nuclear proteins - genetics (31) 31
apert-syndrome (30) 30
crouzon syndrome (30) 30
craniofacial dysostosis - surgery (29) 29
middle aged (29) 29
syndactyly (29) 29
acrocephalosyndactyly (28) 28
craniosynostoses (27) 27
twist-related protein 1 - genetics (27) 27
young adult (27) 27
abnormalities, multiple - diagnosis (26) 26
cephalometry (26) 26
craniosynostoses - complications (26) 26
skull - diagnostic imaging (26) 26
abnormalities, multiple - genetics (25) 25
acrocephalosyndactylia - classification (25) 25
craniosynostoses - surgery (25) 25
musculoskeletal diseases (25) 25
treatment outcome (25) 25
receptor, fibroblast growth factor, type 2 (24) 24
animals (23) 23
management (23) 23
multiple abnormalities (23) 23
twist (23) 23
mutation - genetics (22) 22
receptor protein-tyrosine kinases - genetics (22) 22
ultrasound (22) 22
craniosynostoses - diagnostic imaging (21) 21
crouzon (21) 21
osteogenesis, distraction - methods (21) 21
acrocephalosyndactylia - therapy (20) 20
analysis (20) 20
congenital, hereditary, and neonatal diseases and abnormalities (19) 19
craniofacial dysostosis - complications (19) 19
craniofacial dysostosis - genetics (19) 19
fgfr2 mutations (19) 19
fingers - abnormalities (19) 19
genetics (19) 19
karyotyping (19) 19
medicine & public health (19) 19
saethre-chotzen-syndrome (19) 19
anomalies (18) 18
neurosciences (18) 18
more...
Language Language
Language Language
X
Sort by Item Count (A-Z)
Filter by Count
English (511) 511
French (22) 22
German (20) 20
Polish (11) 11
Spanish (8) 8
Russian (5) 5
Italian (4) 4
Japanese (3) 3
Czech (2) 2
Norwegian (2) 2
Portuguese (2) 2
Romanian (2) 2
Chinese (1) 1
Croatian (1) 1
Danish (1) 1
Dutch (1) 1
Hungarian (1) 1
more...
Publication Date Publication Date
Click on a bar to filter by decade
Slide to change publication date range


Pediatrics (Evanston), ISSN 0031-4005, 2014, Volume 133, Issue 6, pp. e1608 - 15
OBJECTIVES: To examine intellectual, behavioral, and emotional functioning of children who have syndromic craniosynostosis and to explore differences between... 
Emotional functioning | Intellectual functioning | Children | Syndromic craniosynostosis | Behavioral functioning | syndromic craniosynostosis | intellectual functioning | MUENKE-SYNDROME | MANAGEMENT | DEFICIT HYPERACTIVITY DISORDER | APERTS-SYNDROME | SAETHRE-CHOTZEN-SYNDROME | DIAGNOSTIC INTERVIEW SCHEDULE | DISC-IV | behavioral functioning | VARIABILITY | GENE | children | ADOLESCENTS | PEDIATRICS | emotional functioning | Affective Symptoms - diagnosis | Craniosynostoses - epidemiology | Wechsler Scales | Affective Symptoms - epidemiology | Humans | Craniosynostoses - psychology | Male | Attention Deficit and Disruptive Behavior Disorders - diagnosis | Social Behavior Disorders - psychology | Child Behavior Disorders - epidemiology | Acrocephalosyndactylia - diagnosis | Female | Attention Deficit and Disruptive Behavior Disorders - psychology | Interview, Psychological | Acrocephalosyndactylia - epidemiology | Child | Cognition Disorders - psychology | Intellectual Disability - epidemiology | Child Behavior Disorders - psychology | Attention Deficit and Disruptive Behavior Disorders - epidemiology | Child Behavior Disorders - diagnosis | Cross-Sectional Studies | Acrocephalosyndactylia - psychology | Risk Factors | Craniosynostoses - diagnosis | Personality Assessment | Syndrome | Cognition Disorders - diagnosis | Social Behavior Disorders - epidemiology | Affective Symptoms - psychology | Intellectual Disability - diagnosis | Adolescent | Internal-External Control | Intellectual Disability - psychology | Social Behavior Disorders - diagnosis | Cognition Disorders - epidemiology | Complications and side effects | Craniosynostoses | Care and treatment | Research | Health aspects | Mental retardation | Risk factors | Pediatrics | Head | Behavior | Cognition & reasoning | Emotions | Children & youth
Journal Article
Prenatal Diagnosis, ISSN 0197-3851, 02/2015, Volume 35, Issue 2, pp. 203 - 205
What's already known about this topic? Greig cephalopolysyndactyly syndrome (GCPS) is a rare multiple congenital anomaly syndrome with an autosomal dominant... 
GENETICS & HEREDITY | OBSTETRICS & GYNECOLOGY | Pregnancy | Ultrasonography, Prenatal | Gene Deletion | Humans | Zinc Finger Protein Gli3 | Acrocephalosyndactylia - diagnosis | Adult | Female | Acrocephalosyndactylia - genetics | Kruppel-Like Transcription Factors - genetics | Nerve Tissue Proteins - genetics | Pregnant women | Ultrasonic imaging
Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 03/2014, Volume 164, Issue 3, pp. 820 - 823
Journal Article
Journal Article
JOURNAL OF CRANIOFACIAL SURGERY, ISSN 1049-2275, 09/2013, Volume 24, Issue 5, pp. 1829 - 1832
We report here a newborn female infant with striking features consistent with severe Pfeiffer syndrome (PS). Pfeiffer syndrome is a rare craniofacial disorder... 
Pfeiffer syndrome | phenotype | SURGERY | syndactyly | MUTATIONS | CRANIOSYNOSTOSIS | exophthalmos | genotype | Diagnosis, Differential | Genetic Testing | Humans | Genotype | Tomography, X-Ray Computed | Acrocephalosyndactylia - genetics | Phenotype | Fatal Outcome | Acrocephalosyndactylia - diagnosis | Female | Acrocephalosyndactylia - therapy | Mutation | Infant, Newborn
Journal Article
Prenatal diagnosis, ISSN 0197-3851, 2007, Volume 27, Issue 7, pp. 629 - 632
To illustrate how Apert syndrome, a rare autosomal dominant genetic syndrome, can be detected in the second-trimester of pregnancy using 2D ultrasound, and how... 
prenatal diagnosis | ultrasound | Apert syndrome | Ultrasound | Prenatal diagnosis | GENETICS & HEREDITY | OBSTETRICS & GYNECOLOGY | Pregnancy | Pregnancy Trimester, Second | Ultrasonography, Prenatal | Humans | Acrocephalosyndactylia - diagnostic imaging | Female | Imaging, Three-Dimensional
Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 06/2013, Volume 161, Issue 6, pp. 1394 - 1400
Journal Article