X
Search Filters
Format Format
Subjects Subjects
Subjects Subjects
X
Sort by Item Count (A-Z)
Filter by Count
humans (116) 116
index medicus (112) 112
female (82) 82
male (80) 80
genetics & heredity (51) 51
adult (49) 49
child (40) 40
middle aged (34) 34
child, preschool (32) 32
adolescent (31) 31
mutation (29) 29
gene (25) 25
hematology (25) 25
infant (23) 23
mutations (23) 23
oncology (21) 21
aged (20) 20
pedigree (19) 19
hereditary hemorrhagic telangiectasia (18) 18
dna mutational analysis (16) 16
genotype (15) 15
phenotype (15) 15
syndrome (14) 14
abnormalities, multiple - genetics (13) 13
children (13) 13
infant, newborn (13) 13
italy (13) 13
chromosome deletion (12) 12
pediatrics (12) 12
young adult (12) 12
abridged index medicus (11) 11
age of onset (11) 11
disease (11) 11
prognosis (11) 11
treatment outcome (11) 11
diagnosis (10) 10
locus (10) 10
polymorphism, genetic (10) 10
analysis (9) 9
karyotyping (9) 9
perforin (9) 9
telangiectasia, hereditary hemorrhagic - complications (9) 9
telangiectasia, hereditary hemorrhagic - genetics (9) 9
genes (8) 8
genetic aspects (8) 8
genetics (8) 8
in situ hybridization, fluorescence (8) 8
medicine & public health (8) 8
activin receptors, type ii - genetics (7) 7
chromosome aberrations (7) 7
chromosomes, human, pair 8 (7) 7
endoglin (7) 7
eng (7) 7
genetic predisposition to disease (7) 7
medicine, research & experimental (7) 7
acvrl1 (6) 6
aged, 80 and over (6) 6
chromosomes, human, pair 7 (6) 6
deletion (6) 6
diagnosis, differential (6) 6
endocrinology & metabolism (6) 6
follow-up studies (6) 6
gene deletion (6) 6
glycogen storage disease type ii - drug therapy (6) 6
histiocytosis, non-langerhans-cell - genetics (6) 6
leukemia (6) 6
liver (6) 6
membrane glycoproteins - genetics (6) 6
mutation - genetics (6) 6
myelodysplastic syndrome (6) 6
otorhinolaryngology (6) 6
patients (6) 6
pore forming cytotoxic proteins (6) 6
shwachman-diamond syndrome (6) 6
telangiectasia, hereditary hemorrhagic - diagnosis (6) 6
alpha-glucosidases - therapeutic use (5) 5
base sequence (5) 5
biochemistry & molecular biology (5) 5
bone marrow (5) 5
bone marrow diseases - genetics (5) 5
case-control studies (5) 5
clinical neurology (5) 5
disease progression (5) 5
enzymes (5) 5
exocrine pancreatic insufficiency - genetics (5) 5
expression (5) 5
familial hemophagocytic lymphohistiocytosis (5) 5
family health (5) 5
glycogen storage disease type ii - genetics (5) 5
glycogen storage disease type ii - physiopathology (5) 5
health aspects (5) 5
hht (5) 5
histiocytosis (5) 5
human genetics (5) 5
intellectual disability - genetics (5) 5
management (5) 5
maps (5) 5
medical genetics (5) 5
medicine (5) 5
myelodysplastic syndromes - genetics (5) 5
more...
Language Language
Publication Date Publication Date
Click on a bar to filter by decade
Slide to change publication date range


Journal of Allergy and Clinical Immunology, The, ISSN 0091-6749, 2015, Volume 137, Issue 1, pp. 188 - 196.e4
Journal Article
Nature Communications, ISSN 2041-1723, 12/2018, Volume 9, Issue 1, pp. 1416 - 16
Pulmonary arterial hypertension (PAH) is a rare disorder with a poor prognosis. Deleterious variation within components of the transforming growth factor-beta... 
SOX17 | GENE | ANGIOGENESIS | CRYSTAL-STRUCTURE | MULTIDISCIPLINARY SCIENCES | BMP9 | ASSOCIATION | EXPRESSION | NONSENSE MUTATION | BETA-RECEPTOR | CAVEOLIN-1 | Prognosis | Humans | Male | Familial Primary Pulmonary Hypertension - diagnosis | SOXF Transcription Factors - metabolism | Aquaporin 1 - metabolism | Case-Control Studies | Familial Primary Pulmonary Hypertension - metabolism | Membrane Transport Proteins - genetics | Base Sequence | HEK293 Cells | Adult | Female | Growth Differentiation Factors - genetics | Membrane Transport Proteins - metabolism | Familial Primary Pulmonary Hypertension - pathology | Genetic Predisposition to Disease | Bone Morphogenetic Protein Receptors, Type II - genetics | Signal Transduction | Gene Expression Regulation | Adenosine Triphosphatases - metabolism | Models, Molecular | Familial Primary Pulmonary Hypertension - genetics | Bone Morphogenetic Protein Receptors, Type II - metabolism | Membrane Transport Proteins - chemistry | Whole Genome Sequencing | Aquaporin 1 - chemistry | Aquaporin 1 - genetics | Growth Differentiation Factors - metabolism | Transforming Growth Factor beta - genetics | Adenosine Triphosphatases - chemistry | Adenosine Triphosphatases - genetics | Mutation | SOXF Transcription Factors - genetics | Transforming Growth Factor beta - metabolism | SOXF Transcription Factors - chemistry | Growth Differentiation Factors - chemistry | Hypertension | Bone morphogenetic protein receptor type II | Secretion | Lung | Transforming growth factor | Genes | Genomes | Heritability | Aquaporin 1 | Gene sequencing | Index Medicus
Journal Article
Journal Article
BMJ Open, ISSN 2044-6055, 01/2019, Volume 9, Issue 1, pp. e022617 - e022617
ObjectivesShwachman-Diamond syndrome (SDS) is a rare autosomal recessive disorder. Its predominant manifestations include exocrine pancreatic insufficiency,... 
growth charts | Shwachman-diamond syndrome | genetics | Body mass index | Genetic disorders | Cognitive ability | Bone marrow | Software | Down syndrome | Mutation | Patients | Age
Journal Article
Pediatric Reports, ISSN 2036-749X, 2018, Volume 10, Issue 2, pp. 37 - 38
Rapunzel syndrome is a rare form of tricobezoar with a tail extending from the stomach into the small bowel; surgical removal is generally required. About 60... 
Rapunzel syndrome | Diagnosis | diagnosis
Journal Article
American Journal of Hematology, ISSN 0361-8609, 04/2018, Volume 93, Issue 4, pp. 527 - 536
Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 08/2019, Volume 179, Issue 8, pp. 1525 - 1530
Skin picking (SP) disorder is characterized by recurrent SP resulting in skin lesions. Several studies estimated its prevalence as approximately 2–4 % of the... 
Cri du Chat Syndrome | skin picking | rare genetic disorder | ADOLESCENTS | GENETICS & HEREDITY | MALADAPTIVE BEHAVIOR | N-ACETYLCYSTEINE | PREVALENCE | CHILDREN | Skin | Parental behavior | Skin diseases | Chromosome 5 | Children | Patients | Index Medicus
Journal Article
Journal Article
International Journal of Hematology, ISSN 0925-5710, 1/2015, Volume 101, Issue 1, pp. 23 - 31
Journal Article
Orphanet Journal of Rare Diseases, ISSN 1750-1172, 08/2014, Volume 9, Issue 1, pp. 102 - 102
Journal Article