X
Search Filters
Format Format
Subjects Subjects
Subjects Subjects
X
Sort by Item Count (A-Z)
Filter by Count
humans (620) 620
female (457) 457
male (382) 382
arthrogryposis - complications (332) 332
infant, newborn (219) 219
arthrogryposis (211) 211
infant (193) 193
index medicus (190) 190
child (175) 175
child, preschool (175) 175
pregnancy (165) 165
adult (145) 145
pediatrics (116) 116
arthrogryposis - etiology (112) 112
adolescent (110) 110
arthrogryposis - diagnosis (99) 99
arthrogryposis - genetics (87) 87
syndrome (85) 85
orthopedics (83) 83
clinical neurology (81) 81
arthrogryposis - surgery (78) 78
arthrogryposis - pathology (76) 76
arthrogryposis multiplex congenita (72) 72
surgery (64) 64
radiography (59) 59
follow-up studies (58) 58
genetics & heredity (54) 54
retrospective studies (54) 54
animals (53) 53
treatment outcome (47) 47
arthrogryposis - physiopathology (46) 46
arthrogryposis - diagnostic imaging (45) 45
neurosciences (39) 39
diagnosis, differential (36) 36
arthrogryposis - therapy (35) 35
children (35) 35
clubfoot - surgery (35) 35
genetic disorders (34) 34
middle aged (33) 33
muscles - pathology (33) 33
diagnosis (32) 32
phenotype (32) 32
fatal outcome (31) 31
pregnancy complications (31) 31
hereditary sensory and motor neuropathy - complications (28) 28
abnormalities, multiple (27) 27
clubfoot - complications (26) 26
multiplex congenita (26) 26
obstetrics & gynecology (26) 26
range of motion, articular (26) 26
magnetic resonance imaging (25) 25
management (25) 25
pedigree (25) 25
mutation (24) 24
mutations (24) 24
risk factors (24) 24
arthrogryposis - veterinary (23) 23
casts, surgical (23) 23
amyoplasia (22) 22
cattle (22) 22
recurrence (22) 22
aged (21) 21
anesthesiology (21) 21
clubfoot (21) 21
medicine & public health (21) 21
neurology (21) 21
prognosis (21) 21
young adult (21) 21
abridged index medicus (20) 20
clubfoot - etiology (19) 19
electromyography (19) 19
hereditary sensory and motor neuropathy - diagnosis (19) 19
infants (19) 19
time factors (19) 19
abnormalities, multiple - diagnosis (18) 18
abnormalities, multiple - genetics (18) 18
postoperative complications (18) 18
scoliosis (18) 18
arthrogryposis - epidemiology (17) 17
biopsy (17) 17
brain - pathology (17) 17
care and treatment (17) 17
gene (17) 17
myasthenia gravis (17) 17
spinal cord - pathology (17) 17
article (16) 16
brain - abnormalities (16) 16
classification (16) 16
contracture - etiology (16) 16
contractures (16) 16
distal arthrogryposis (16) 16
face - abnormalities (16) 16
genetic aspects (16) 16
health aspects (16) 16
hip dislocation, congenital - complications (16) 16
veterinary sciences (16) 16
case report (15) 15
methods (15) 15
pathology (15) 15
prenatal diagnosis (15) 15
more...
Language Language
Language Language
X
Sort by Item Count (A-Z)
Filter by Count
English (590) 590
German (31) 31
French (30) 30
Spanish (13) 13
Japanese (11) 11
Italian (7) 7
Polish (6) 6
Dutch (5) 5
Chinese (4) 4
Portuguese (3) 3
Russian (3) 3
Czech (2) 2
Romanian (2) 2
Danish (1) 1
Finnish (1) 1
Serbian (1) 1
Slovak (1) 1
more...
Publication Date Publication Date
Click on a bar to filter by decade
Slide to change publication date range


Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 10/2015, Volume 167, Issue 10, pp. 2411 - 2417
Congenital disorders of Glycosylation (CDG) are increasingly emerging as a major underlying etiology for patients with complex neurogenetic malformations and... 
arthrogryposis | dolichyl‐phosphate alpha‐N‐acetylglucosaminyltransferase | Congenital disorder of glycosylation type IJ | Arthrogryposis | Dolichyl-phosphate alpha-N-acetylglucosaminyltransferase | GENETICS & HEREDITY | PHENOTYPE | CDG-IJ | SPECTRUM | dolichyl-phosphate alpha-N-acetylglucosaminyltransferase | DEFICIENCY | Abnormalities, Multiple - pathology | Cleft Palate - diagnosis | Limb Deformities, Congenital - genetics | Humans | Molecular Sequence Data | N-Acetylglucosaminyltransferases - genetics | Hydrocephalus - pathology | Cleft Palate - genetics | Mutation, Missense | Contracture - genetics | Congenital Disorders of Glycosylation - pathology | Arthrogryposis - diagnosis | Contracture - complications | Female | Arthrogryposis - pathology | Hydrocephalus - genetics | Abnormalities, Multiple - genetics | Congenital Disorders of Glycosylation - genetics | Infant, Newborn | Amino Acid Sequence | Diagnosis, Differential | Gene Expression | Hydrocephalus - diagnosis | Contracture - pathology | Arthrogryposis - complications | Hydrocephalus - complications | Arthrogryposis - genetics | Congenital Disorders of Glycosylation - complications | Limb Deformities, Congenital - diagnosis | Sequence Alignment | Contracture - diagnosis | Abnormalities, Multiple - diagnosis | Cleft Palate - pathology | Cleft Palate - complications | Limb Deformities, Congenital - complications | Congenital Disorders of Glycosylation - diagnosis | Limb Deformities, Congenital - pathology | Genetic disorders | Cataracts | Cerebellum | Transferrin | Congenital diseases | Akinesia | Fetuses | Glycosylation | Pregnancy | Myelination | Missense mutation | Magnetic resonance imaging | Etiology | Differential diagnosis | Isoelectric focusing
Journal Article
Brain, ISSN 0006-8950, 11/2017, Volume 140, Issue 11, pp. 2851 - 2859
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 09/2016, Volume 99, Issue 3, pp. 753 - 761
Journal Article
Journal Article
Saudi journal of kidney diseases and transplantation : an official publication of the Saudi Center for Organ Transplantation, Saudi Arabia, ISSN 1319-2442, 2012, Volume 23, Issue 4, pp. 804 - 809
Journal Article
JAMA Neurology, ISSN 2168-6149, 12/2016, Volume 73, Issue 12, pp. 1407 - 1416
Journal Article
Journal Article
Journal of Bone and Mineral Research, ISSN 0884-0431, 11/2016, Volume 31, Issue 11, pp. 1930 - 1942
Bruck syndrome (BS) is a disorder characterized by joint flexion contractures and skeletal dysplasia that shows strong clinical overlap with the brittle bone... 
OSTEOGENESIS IMPERFECTA | PLOD2 | COLLAGEN | LYSYL HYDROXYLASE 2 | BRUCK SYNDROME | TOMOGRAPHY | PROTEIN | CROSS-LINKING | PHENOTYPE | IDENTIFICATION | BONE-COLLAGEN | SYNDROME-OSTEOGENESIS IMPERFECTA | ENDOCRINOLOGY & METABOLISM | MUTATIONS | SKIN | Bone and Bones - pathology | Conserved Sequence - genetics | Osteogenesis Imperfecta - metabolism | Musculoskeletal Abnormalities - complications | Musculoskeletal Abnormalities - pathology | X-Ray Microtomography | Arthrogryposis - diagnostic imaging | Peptides - metabolism | Bone and Bones - diagnostic imaging | Mass Spectrometry | Lysine - metabolism | Arthrogryposis - pathology | Amino Acid Sequence | Catalytic Domain | Collagen Type I - metabolism | Hydroxylation | Larva - metabolism | Musculoskeletal Abnormalities - diagnostic imaging | Arthrogryposis - complications | Osteogenesis Imperfecta - complications | Osteogenesis Imperfecta - diagnostic imaging | Cross-Linking Reagents - metabolism | Phenotype | Animals | Musculoskeletal Abnormalities - metabolism | Calcification, Physiologic | Zebrafish - metabolism | Arthrogryposis - metabolism | Osteogenesis Imperfecta - pathology | Notochord - pathology | Zebrafish Proteins - genetics | Bone and Bones - abnormalities | Codon, Nonsense - genetics | Evolution, Molecular | Enzymes | Dysplasia | Crosslinked polymers | Lysine | Analysis | Collagen | Abnormalities | Bones
Journal Article
Lancet, The, ISSN 0140-6736, 2016, Volume 388, Issue 10047, pp. 898 - 904
Summary Background Zika virus is an arthropod-borne virus that is a member of the family Flaviviridae transmitted mainly by mosquitoes of the genus Aedes .... 
Internal Medicine | ETIOLOGY | MEDICINE, GENERAL & INTERNAL | STATES | VIRUS-INFECTION | ARTHROGRYPOSIS | UPDATE | TISSUES | BRAIN | PCR | Pregnancy Trimester, Second | Limb Deformities, Congenital - virology | Pregnancy Complications, Infectious - virology | Neuroglia - pathology | Zika Virus Infection - congenital | Humans | Abortion, Spontaneous - virology | Brain - virology | Infant | Male | Microcephaly - virology | Pregnancy Trimester, First | Pregnancy Trimester, Third | Antigens, Viral - isolation & purification | Autopsy | Microcephaly - pathology | Fatal Outcome | Brazil | Adult | Female | RNA, Viral - isolation & purification | Zika Virus - immunology | Zika Virus Infection - pathology | Zika Virus - isolation & purification | Reverse Transcriptase Polymerase Chain Reaction | Pregnancy Complications, Infectious - pathology | Syndrome | Immunohistochemistry - methods | Pregnancy | Ultrasonography, Prenatal | Limb Deformities, Congenital - diagnostic imaging | Placenta - pathology | Brain - pathology | Neuroglia - virology | Placenta - virology | Virus diseases | Mosquitoes | Lung diseases | Birth defects | Conjunctivitis | Health aspects | Hyperthermia | Abortion | Fever | Zoonoses | Diseases | Disease transmission | Genetic disorders | Analysis | Pathology | Zika virus | Congenital diseases | Maternal & child health | Newborn babies | Health risk assessment
Journal Article