X
Search Filters
Format Format
Subjects Subjects
Subjects Subjects
X
Sort by Item Count (A-Z)
Filter by Count
humans (15) 15
index medicus (13) 13
male (13) 13
female (8) 8
genetics & heredity (8) 8
mutation (8) 8
genetics (6) 6
pediatrics (6) 6
research (6) 6
infant (5) 5
adolescent (4) 4
child, preschool (4) 4
dermatology (4) 4
diagnosis (4) 4
genetic aspects (4) 4
abnormalities, multiple - genetics (3) 3
adult (3) 3
base sequence (3) 3
care and treatment (3) 3
case report (3) 3
child (3) 3
dna-binding proteins - genetics (3) 3
high-throughput nucleotide sequencing (3) 3
infant, newborn (3) 3
italy (3) 3
middle aged (3) 3
mutations (3) 3
sequence analysis, dna (3) 3
spectrum (3) 3
adrenal hyperplasia, congenital - genetics (2) 2
adrenal insufficiency (2) 2
aged (2) 2
congenital diseases (2) 2
congenital heart disease (2) 2
defects (2) 2
deletion (2) 2
diseases of the musculoskeletal system (2) 2
disorders (2) 2
dna mutational analysis - methods (2) 2
face - abnormalities (2) 2
family (2) 2
gene expression (2) 2
gene mutations (2) 2
genetic association studies (2) 2
genetic disorders (2) 2
genetic testing (2) 2
genomics (2) 2
hematologic diseases - genetics (2) 2
histone demethylases - genetics (2) 2
homozygote (2) 2
ichthyosis - diagnosis (2) 2
ichthyosis - genetics (2) 2
kabuki syndrome (2) 2
kdm6a (2) 2
meeting abstracts (2) 2
models, molecular (2) 2
molecular diagnosis (2) 2
molecular sequence data (2) 2
neoplasm proteins - genetics (2) 2
next generation sequencing (2) 2
nuclear proteins - genetics (2) 2
phenotype (2) 2
phenotypic spectrum (2) 2
puberty (2) 2
rheumatology (2) 2
skin (2) 2
software (2) 2
usage (2) 2
vestibular diseases - genetics (2) 2
young adult (2) 2
11 beta-hydroxylase (1) 1
11β-hydroxylase (1) 1
3 hz repetitive nerve stimulation (1) 1
46, xy disorders of sex development - genetics (1) 1
8q12 (1) 1
abnormalities (1) 1
abnormalities, multiple - diagnosis (1) 1
abnormalities, multiple - pathology (1) 1
abnormalities, multiple - physiopathology (1) 1
abridged index medicus (1) 1
action potentials - genetics (1) 1
action potentials - physiology (1) 1
active-site (1) 1
adams-oliver-syndrome (1) 1
adrenal glands (1) 1
adrenal hyperplasia, congenital - complications (1) 1
adrenal insufficiency - complications (1) 1
adrenal insufficiency - genetics (1) 1
adrenogenital syndrome (1) 1
amino acids (1) 1
analysis (1) 1
angiogenesis (1) 1
angioma (1) 1
angioma serpiginosum (1) 1
angstrom resolution (1) 1
anomalies (1) 1
anophthalmia (1) 1
anophthalmia/microphthalmia (1) 1
anophthalmos - genetics (1) 1
antibiotics (1) 1
more...
Language Language
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, 11/2017, Volume 173, Issue 11, pp. 2912 - 2922
The prevalence of congenital heart defects (CHD) in Kabuki syndrome ranges from 28% to 80%. Between January 2012 and December 2015, 28 patients had a... 
KMT2D | Kabuki syndrome | gene | congenital heart defect | KDM6A | KMT2D gene | KDM6A gene | HORMONE DEFICIENCY | MENTAL-RETARDATION | NIIKAWA-KUROKI-SYNDROME | TURNERS-SYNDROME | SYNDROME GENES KMT2D | MAKE-UP-SYNDROME | PHENOTYPIC SPECTRUM | CARDIOVASCULAR MALFORMATIONS | GENETICS & HEREDITY | MUTATIONS | ADAMS-OLIVER-SYNDROME | Aortic Valve Stenosis - genetics | Vestibular Diseases - complications | Aortic Valve - abnormalities | Face - abnormalities | Humans | Male | Heart Septal Defects, Ventricular - physiopathology | Heart Septal Defects, Atrial - physiopathology | Histone Demethylases - genetics | Aortic Coarctation - physiopathology | Heart Defects, Congenital - genetics | Aortic Coarctation - complications | Female | Heart Septal Defects, Atrial - genetics | Vestibular Diseases - physiopathology | Neoplasm Proteins - genetics | Nuclear Proteins - genetics | Abnormalities, Multiple - genetics | Heart Valve Diseases - physiopathology | Hematologic Diseases - complications | Heart Septal Defects, Ventricular - genetics | Aortic Valve Stenosis - physiopathology | Aortic Valve - physiopathology | DNA-Binding Proteins - genetics | Abnormalities, Multiple - physiopathology | Face - physiopathology | Aortic Valve Stenosis - complications | Heart Defects, Congenital - complications | Hematologic Diseases - physiopathology | Heart Valve Diseases - genetics | Hematologic Diseases - genetics | Aortic Coarctation - genetics | Heart Defects, Congenital - physiopathology | Vestibular Diseases - genetics | Heart | Congenital heart disease | Genetic disorders | Coronary heart disease | Echocardiography | Congenital defects | Aortic arch | Aorta | Ventricle | Health risk assessment | Aortic valve | Defects
Journal Article
Journal Article
Clinical Dysmorphology, ISSN 0962-8827, 11/2018, p. 1
Journal Article
Experimental Dermatology, ISSN 0906-6705, 2018
Recessive X-linked ichthyosis (XLI), the second most common ichthyosis, is caused by mutations in the STS gene encoding the steroid sulfatase enzyme. A... 
Contiguous gene syndrome | Deletion | STS gene | Attention-deficit hyperactivity disorder | Point mutation
Journal Article
ITALIAN JOURNAL OF PEDIATRICS, ISSN 1720-8424, 04/2019, Volume 45, Issue 1, pp. 53 - 5
BackgroundAngioma serpiginosum is a rare vascular anomaly whose pathogenesis is still unknown. It is characterized by the onset of vascular reddish macules and... 
Angioma serpiginosum | VASCULAR MALFORMATIONS | WT-1 | Dermoscopy | PEDIATRICS | EXPRESSION | TUMORS | Immunohistochemistry | Puberty | Pathogenesis | Dermis | Stains & staining | Literature reviews | Angiogenesis | Next-generation sequencing | Microscopy | Genetic analysis | Classification | Skin diseases | Skin | Children | Mutation | Capillaries | Tumors
Journal Article
Frontiers in surgery, ISSN 2296-875X, 2018, Volume 5, p. 51
Surgical treatment of ureteral endometriosis is necessary to relieve urinary symptoms of obstruction and to preserve renal function. Which surgical approach to... 
Robotic surgery | Endometriosis | Care and treatment | Usage | Patient outcomes | ureteral endometriosis | da Vinci Xi | gynecologic surgery | da Vinci Si | minimally invasive surgery | robotic
Journal Article
Journal Article
International Journal of Dermatology, ISSN 0011-9059, 08/2019, Volume 58, Issue 8, pp. e143 - e146
Journal Article
American Journal of Human Genetics, ISSN 0002-9297, 02/2015, Volume 96, Issue 2, p. 295
  Keppen-Lubinsky syndrome (KPLBS) is a rare disease mainly characterized by severe developmental delay and intellectual disability, microcephaly, large... 
Congenital diseases | Genomics | Amino acids | Genetics | Mutation | Down syndrome | Potassium
Journal Article