X
Search Filters
Format Format
Subjects Subjects
Subjects Subjects
X
Sort by Item Count (A-Z)
Filter by Count
humans (836) 836
female (502) 502
male (498) 498
child (332) 332
radiography (296) 296
index medicus (288) 288
osteochondrodysplasias - genetics (274) 274
adolescent (256) 256
adult (247) 247
osteochondrodysplasias - diagnostic imaging (244) 244
osteochondrodysplasias - surgery (244) 244
child, preschool (229) 229
osteochondrodysplasias - complications (228) 228
osteochondrodysplasias - diagnosis (180) 180
orthopedics (162) 162
osteochondrodysplasias - pathology (156) 156
mutation (153) 153
genetics & heredity (148) 148
surgery (140) 140
dysplasia (134) 134
infant (131) 131
pediatrics (116) 116
middle aged (105) 105
osteochondrodysplasias (95) 95
phenotype (86) 86
animals (83) 83
follow-up studies (82) 82
syndrome (81) 81
pedigree (79) 79
treatment outcome (78) 78
infant, newborn (76) 76
genetic aspects (72) 72
diagnosis, differential (71) 71
osteochondrodysplasias - physiopathology (70) 70
skeletal dysplasia (57) 57
mutations (56) 56
diagnosis (52) 52
gene (52) 52
dwarfism (51) 51
osteochondrodysplasia (49) 49
retrospective studies (49) 49
cartilage (48) 48
osteochondrodysplasias - congenital (48) 48
young adult (48) 48
multiple epiphyseal dysplasia (46) 46
magnetic resonance imaging (43) 43
genetics (41) 41
medicine & public health (41) 41
tomography, x-ray computed (41) 41
research (39) 39
article (37) 37
children (37) 37
aged (36) 36
clinical neurology (36) 36
collagen (36) 36
osteotomy - methods (36) 36
dna mutational analysis (35) 35
osteotomy (35) 35
spondyloepiphyseal dysplasia (35) 35
mice (34) 34
radiology, nuclear medicine & medical imaging (34) 34
disease (33) 33
gene mutations (33) 33
osteochondrodysplasias - veterinary (31) 31
bone dysplasia (30) 30
genotype (30) 30
pseudoachondroplasia (30) 30
abnormalities, multiple - genetics (29) 29
care and treatment (28) 28
collagen type ii - genetics (28) 28
family (28) 28
mutation - genetics (27) 27
base sequence (26) 26
molecular sequence data (26) 26
osteochondrodysplasias - therapy (26) 26
pathology (26) 26
bone (25) 25
genes (25) 25
genetic disorders (25) 25
tibia - surgery (25) 25
analysis (24) 24
bones (24) 24
dwarfism - genetics (24) 24
femur - surgery (24) 24
osteochondrodysplasias - etiology (24) 24
risk factors (24) 24
veterinary sciences (24) 24
growth (23) 23
health aspects (23) 23
medicine (23) 23
patients (23) 23
amino acid sequence (22) 22
medicine, general & internal (22) 22
osteochondrodysplasias - metabolism (22) 22
tracheal diseases - diagnosis (22) 22
case report (21) 21
dogs (21) 21
enchondromatosis (21) 21
expression (21) 21
heterozygote (21) 21
more...
Library Location Library Location
Language Language
Language Language
X
Sort by Item Count (A-Z)
Filter by Count
English (842) 842
German (15) 15
Japanese (15) 15
French (12) 12
Russian (11) 11
Italian (8) 8
Spanish (6) 6
Chinese (4) 4
Polish (4) 4
Czech (3) 3
Hungarian (2) 2
Turkish (1) 1
more...
Publication Date Publication Date
Click on a bar to filter by decade
Slide to change publication date range


Journal of Inherited Metabolic Disease, ISSN 0141-8955, 7/2017, Volume 40, Issue 4, pp. 491 - 495
The indications and outcomes of liver transplantation for metabolic disease have been reviewed recently and this short review concentrates on recent... 
Human Genetics | Biochemistry, general | Pediatrics | Internal Medicine | Medicine & Public Health | Metabolic Diseases | MEDICINE, RESEARCH & EXPERIMENTAL | WOLCOTT-RALLISON SYNDROME | PHENOTYPE | PANCREAS | MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOMYOPATHY | FAILURE | CHILDHOOD | DEFICIENCY | VALPROATE EXPOSURE | ENDOCRINOLOGY & METABOLISM | GENETICS & HEREDITY | MUTATIONS | KIDNEY | Mitochondrial Encephalomyopathies - surgery | Purpura - genetics | Diabetes Mellitus, Type 1 - surgery | Glycine N-Methyltransferase - genetics | Humans | Glycine N-Methyltransferase - deficiency | Liver Transplantation - trends | Brain Diseases, Metabolic, Inborn - surgery | Purpura - surgery | Epiphyses - abnormalities | Amino Acid Metabolism, Inborn Errors - surgery | Osteochondrodysplasias - genetics | Amino Acid Metabolism, Inborn Errors - genetics | Intestinal Pseudo-Obstruction - surgery | Brain Diseases, Metabolic, Inborn - genetics | Neoplasm Proteins - genetics | Enzyme Replacement Therapy | Metabolic Diseases - surgery | Osteochondrodysplasias - surgery | Refsum Disease, Infantile - genetics | Mitochondrial Encephalomyopathies - genetics | Diabetes Mellitus, Type 1 - genetics | Epiphyses - surgery | Liver Neoplasms - surgery | Intestinal Pseudo-Obstruction - genetics | Refsum Disease, Infantile - surgery | Animals | Liver Failure, Acute - surgery | Liver | Transplantation | Liver diseases | Reviews | Syngeneic grafts | Metabolic disorders | Liver transplantation
Journal Article
Nature Reviews Nephrology, ISSN 1759-5061, 12/2010, Volume 6, Issue 12, pp. 736 - 743
Patients with some hereditary nephropathies-including autosomal dominant polycystic kidney disease (ADPKD), Fabry disease and Alport syndrome-can progress to... 
RECESSIVE ALPORT-SYNDROME | COFACTOR PROTEIN CD46 | HEMOLYTIC-UREMIC SYNDROME | GENOTYPE-PHENOTYPE CORRELATIONS | RESISTANT NEPHROTIC SYNDROME | DISEASE TYPES 1 | UROLOGY & NEPHROLOGY | PRIMARY HYPEROXALURIA TYPE-1 | COL4A5 COLLAGEN GENE | FOCAL SEGMENTAL GLOMERULOSCLEROSIS | BASEMENT-MEMBRANE NEPHRITIS | Fabry Disease - genetics | Humans | Cystinosis - genetics | Cystinosis - surgery | Living Donors | Nephrotic Syndrome - genetics | Nephrotic Syndrome - surgery | Arteriosclerosis - genetics | Kidney Diseases - genetics | Abnormalities, Multiple - surgery | Patient Selection | Hemolytic-Uremic Syndrome - genetics | Hyperoxaluria - surgery | Osteochondrodysplasias - genetics | Polycystic Kidney, Autosomal Dominant - genetics | Hemolytic-Uremic Syndrome - surgery | Kidney Diseases, Cystic - genetics | Abnormalities, Multiple - genetics | Pulmonary Embolism - genetics | Osteochondrodysplasias - surgery | Risk Factors | Kidney Diseases, Cystic - surgery | Nephritis, Hereditary - genetics | Pupil Disorders - surgery | Kidney Transplantation | Eye Abnormalities - genetics | Eye Abnormalities - surgery | Pupil Disorders - genetics | Immunologic Deficiency Syndromes - surgery | Arteriosclerosis - surgery | Nephritis, Hereditary - surgery | Immunologic Deficiency Syndromes - genetics | Kidney Diseases - surgery | Fabry Disease - surgery | Pulmonary Embolism - surgery | Hyperoxaluria - genetics | Kidney Diseases, Cystic - congenital | Polycystic Kidney, Autosomal Dominant - surgery | Care and treatment | Relapse | Kidneys | Chronic kidney failure | Organ transplant recipients | Development and progression | Genetic aspects | Transplantation | Research | Health aspects | Risk factors | Diseases
Journal Article
Spine, ISSN 0362-2436, 2014, Volume 39, Issue 15, pp. E912 - E918
Journal Article
Medicine, ISSN 0025-7974, 01/2019, Volume 98, Issue 1, p. e13780
Journal Article
Ophthalmic plastic and reconstructive surgery, ISSN 0740-9303, 05/2017, Volume 33, Issue 3S Suppl 1, pp. S47 - S49
Journal Article
Journal of Neurosurgery: Pediatrics, ISSN 1933-0707, 02/2015, Volume 15, Issue 2, pp. 189 - 191
Schimke immuno-osseous dysplasia (SIOD) is a rare autosomal recessive disorder characterized by spondyloepiphyseal dysplasia, episodic lymphopenia, renal... 
dysplasia | carotid endarterectomy | SIOD = Schimke immuno-osseous dysplasia | ICA = internal carotid artery | vascular disorders | SURGERY | SMARCAL1 | PEDIATRICS | CLINICAL NEUROLOGY | Carotid Stenosis - etiology | Humans | Magnetic Resonance Imaging - methods | Male | Tomography, X-Ray Computed | Nephrotic Syndrome - surgery | Nephrectomy | Carotid Stenosis - diagnosis | Carotid Artery, Internal - surgery | Immunologic Deficiency Syndromes - diagnosis | Carotid Artery, Internal - pathology | Child | Nephrotic Syndrome - diagnosis | Carotid Stenosis - surgery | Pulmonary Embolism - complications | Kidney Failure, Chronic - surgery | Immunologic Deficiency Syndromes - complications | Osteochondrodysplasias - surgery | Arteriosclerosis - physiopathology | Magnetic Resonance Angiography | Treatment Outcome | Arteriosclerosis - complications | Carotid Stenosis - pathology | Osteochondrodysplasias - diagnosis | Hyperplasia - etiology | Osteochondrodysplasias - etiology | Immunologic Deficiency Syndromes - surgery | Nephrotic Syndrome - complications | Pulmonary Embolism - diagnosis | Arteriosclerosis - surgery | Osteochondrodysplasias - physiopathology | Arteriosclerosis - diagnosis | Tunica Intima - pathology | Peritoneal Dialysis | Nephrotic Syndrome - physiopathology | Immunologic Deficiency Syndromes - physiopathology | Pulmonary Embolism - surgery | Kidney Failure, Chronic - etiology | Osteochondrodysplasias - complications | Pulmonary Embolism - physiopathology
Journal Article
Orthopaedic Surgery, ISSN 1757-7853, 02/2013, Volume 5, Issue 1, pp. 33 - 39
Objective Disruption to endochondral ossification leads to delayed and irregular bone formation and can result in a heterogeneous group of genetic disorders... 
Re‐alignment procedures | Phenotypic/genotypic correlation | Skeletal dysplasia | Re-alignment procedures | ORTHOPEDICS | Face - surgery | Diabetes Mellitus, Type 1 - surgery | Face - abnormalities | Humans | Hyaline Membrane Disease - genetics | Cleft Palate - surgery | Joint Instability - genetics | Orthopedic Procedures - methods | Child, Preschool | Male | Cleft Palate - genetics | Craniofacial Abnormalities - surgery | Diabetes Mellitus, Type 1 - complications | Epiphyses - abnormalities | Joint Instability - surgery | Osteochondrodysplasias - genetics | Hyaline Membrane Disease - complications | Lower Extremity - surgery | Child | Craniofacial Abnormalities - complications | Craniofacial Abnormalities - genetics | Ossification, Heterotopic - complications | Ossification, Heterotopic - surgery | Hyaline Membrane Disease - surgery | Polydactyly - genetics | Polydactyly - complications | Osteochondrodysplasias - surgery | Diabetes Mellitus, Type 1 - genetics | Epiphyses - surgery | Treatment Outcome | Genu Valgum - etiology | Polydactyly - surgery | Dwarfism - complications | Dwarfism - genetics | Cleft Palate - complications | Collagen Diseases | Ossification, Heterotopic - genetics | Dwarfism - surgery | Genu Valgum - surgery | Joint Instability - complications | Osteochondrodysplasias - complications | Dysplasia
Journal Article
Journal of Pediatric Orthopaedics B, ISSN 1060-152X, 06/2016, Volume 26, Issue 6, pp. 546 - 551
Atelosteogenesis type III is a rare autosomal dominant skeletal dysplasia caused by mutations in the synthesis of the protein filamin B (FLNB). The mutation in... 
osteochondrodysplasia | atelosteogenesis | filamin B gene defect | skeletal dysplasia | PEDIATRICS | MUTATIONS | ORTHOPEDICS |