X
Search Filters
Format Format
Subjects Subjects
Subjects Subjects
X
Sort by Item Count (A-Z)
Filter by Count
humans (520) 520
index medicus (497) 497
male (310) 310
female (260) 260
lipomatosis - genetics (164) 164
adult (147) 147
lipomatosis (123) 123
lipomatosis - pathology (120) 120
middle aged (117) 117
genetics & heredity (99) 99
child (94) 94
mutation (94) 94
infant (92) 92
lipomatosis - diagnosis (89) 89
child, preschool (86) 86
lipomatosis - complications (79) 79
adolescent (76) 76
pediatrics (74) 74
bone marrow diseases - genetics (73) 73
exocrine pancreatic insufficiency - genetics (73) 73
diagnosis, differential (71) 71
phenotype (71) 71
encephalocraniocutaneous lipomatosis (66) 66
surgery (61) 61
magnetic resonance imaging (59) 59
syndrome (59) 59
abridged index medicus (58) 58
diagnosis (56) 56
aged (49) 49
genetic aspects (47) 47
pedigree (47) 47
clinical neurology (46) 46
mutations (46) 46
genetic disorders (45) 45
infant, newborn (45) 45
hematology (44) 44
lipomatosis, multiple symmetrical - genetics (44) 44
proteus syndrome (43) 43
proteins - genetics (40) 40
medicine & public health (39) 39
oncology (39) 39
pathology (39) 39
shwachman-diamond syndrome (38) 38
animals (37) 37
sbds (37) 37
gene (36) 36
lipomatosis - metabolism (36) 36
lipomatosis - surgery (36) 36
tomography, x-ray computed (34) 34
dermatology (33) 33
multiple symmetrical lipomatosis (33) 33
research (32) 32
young adult (31) 31
article (30) 30
cancer (30) 30
genetics (30) 30
children (29) 29
multiple symmetric lipomatosis (29) 29
bone marrow diseases - diagnosis (28) 28
bone marrow diseases - pathology (28) 28
care and treatment (28) 28
exocrine pancreatic insufficiency - pathology (28) 28
neurosciences (28) 28
bone marrow diseases - complications (27) 27
exocrine pancreatic insufficiency - diagnosis (27) 27
analysis (26) 26
bone marrow (26) 26
exocrine pancreatic insufficiency - complications (26) 26
lipomatosis, multiple symmetrical - pathology (26) 26
biopsy (25) 25
patients (25) 25
tumors (25) 25
treatment outcome (24) 24
abnormalities (23) 23
case report (23) 23
lipomatosis - diagnostic imaging (23) 23
manifestations (23) 23
mosaicism (23) 23
risk factors (23) 23
cell biology (22) 22
disease (22) 22
bone marrow diseases - metabolism (21) 21
exocrine pancreatic insufficiency - metabolism (21) 21
mice (21) 21
neurocutaneous syndromes - diagnosis (21) 21
biochemistry & molecular biology (20) 20
case studies (20) 20
dna, mitochondrial - genetics (20) 20
endocrinology & metabolism (20) 20
lipomatosis, multiple symmetrical - diagnosis (20) 20
adipose tissue (19) 19
gene mutations (19) 19
pancreas (19) 19
proteins - metabolism (19) 19
shwachman-diamond-syndrome (19) 19
health aspects (18) 18
lipomatosis - congenital (18) 18
lipomatosis, multiple symmetrical - complications (18) 18
mitochondria (18) 18
neutropenia (18) 18
more...
Language Language
Language Language
X
Sort by Item Count (A-Z)
Filter by Count
English (567) 567
French (14) 14
Spanish (8) 8
German (5) 5
Chinese (3) 3
Dutch (3) 3
Italian (3) 3
Japanese (2) 2
Russian (2) 2
Czech (1) 1
Korean (1) 1
Norwegian (1) 1
more...
Publication Date Publication Date
Click on a bar to filter by decade
Slide to change publication date range


PLoS genetics, ISSN 1553-7390, 2014, Volume 10, Issue 5, pp. e1004371 - e1004371
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 03/2016, Volume 98, Issue 3, pp. 579 - 587
Journal Article
Journal Article
British Journal of Haematology, ISSN 0007-1048, 08/2013, Volume 162, Issue 4, pp. 542 - 546
Journal Article
Clinical Genetics, ISSN 0009-9163, 10/2016, Volume 90, Issue 4, pp. 334 - 342
Journal Article
Journal Article
Biochemical and Biophysical Research Communications, ISSN 0006-291X, 01/2014, Volume 443, Issue 4, pp. 1251 - 1256
Removal of anti-association factor, Tif6 (eIF6), by elongation factor-like 1 (EFL1) and Shwachman–Bodian–Diamond syndrome (SBDS) protein is a critical step in... 
Ribosome biogenesis | Intrinsically disordered protein | Isothermal titration calorimetry | Interaction | Circular dichroism | TRANSLOCATION | BIOCHEMISTRY & MOLECULAR BIOLOGY | COMPLEXES | CRYSTAL-STRUCTURES | RELEASE | SHWACHMAN-DIAMOND-SYNDROME | REVEAL | SACCHAROMYCES-CEREVISIAE | YEAST | BIOPHYSICS | Isothermal titration calorimetty | GTP HYDROLYSIS | 60S RIBOSOMAL-SUBUNIT | Exocrine Pancreatic Insufficiency - genetics | Ribosomal Proteins - chemistry | Exocrine Pancreatic Insufficiency - metabolism | Saccharomyces cerevisiae - genetics | Humans | Molecular Sequence Data | Ribosomes - metabolism | Lipomatosis - metabolism | Ribosomal Proteins - metabolism | GTP Phosphohydrolases - chemistry | Saccharomyces cerevisiae - metabolism | Thermodynamics | Peptide Elongation Factor 2 - genetics | Protein Interaction Domains and Motifs | Recombinant Proteins - metabolism | Amino Acid Sequence | Ribosomal Proteins - genetics | Models, Molecular | Recombinant Proteins - chemistry | Bone Marrow Diseases - metabolism | Recombinant Proteins - genetics | Binding Sites - genetics | Saccharomyces cerevisiae Proteins - genetics | Lipomatosis - genetics | Intrinsically Disordered Proteins - genetics | Bone Marrow Diseases - genetics | Proteins - genetics | Sequence Homology, Amino Acid | GTP Phosphohydrolases - metabolism | Peptide Elongation Factor 2 - chemistry | Proteins - metabolism | GTP Phosphohydrolases - genetics | Intrinsically Disordered Proteins - chemistry | Saccharomyces cerevisiae Proteins - metabolism | Mutagenesis, Insertional | Proteins - chemistry | Peptide Elongation Factor 2 - metabolism | Intrinsically Disordered Proteins - metabolism | Saccharomyces cerevisiae Proteins - chemistry | Index Medicus
Journal Article
Genes and Development, ISSN 0890-9369, 2011, Volume 25, Issue 9, pp. 917 - 929
Journal Article
Human Mutation, ISSN 1059-7794, 12/2017, Volume 38, Issue 12, pp. 1660 - 1665
Exocrine pancreatic insufficiency (EPI) is rare in children, with most if not all cases occurring as part of syndromic conditions such as cystic fibrosis and... 
pancreatic lipomatosis | chronic pancreatitis | SPINK1 | gene | insertion | Alu | exocrine pancreatic insufficiency | SPINK1 gene | Alu insertion | SYSTEMATIC ANALYSIS | HEREDITARY PANCREATITIS | VARIANTS | SHWACHMAN-DIAMOND-SYNDROME | IDENTIFICATION | GENETICS & HEREDITY | IVS3+2T-GREATER-THAN-C MUTATION | SERINE-PROTEASE INHIBITOR | ACINAR-CELLS | CYSTIC-FIBROSIS | KAZAL TYPE-1 | Exocrine Pancreatic Insufficiency - genetics | Sequence Deletion | Cystic Fibrosis - physiopathology | Humans | Infant | Lipomatosis - diagnostic imaging | Pancreatic Diseases - diagnostic imaging | Trypsin Inhibitor, Kazal Pancreatic - genetics | Cystic Fibrosis - diagnostic imaging | Trypsin Inhibitor, Kazal Pancreatic - metabolism | Exocrine Pancreatic Insufficiency - physiopathology | Exocrine Pancreatic Insufficiency - diagnostic imaging | Female | Alu Elements - genetics | Pancreatic Diseases - physiopathology | Genetic Predisposition to Disease | Lipomatosis - physiopathology | Lipomatosis - genetics | Bone Marrow Diseases - physiopathology | Bone Marrow Diseases - genetics | Pancreatic Diseases - genetics | Homozygote | Magnetic Resonance Imaging | Phenotype | Bone Marrow Diseases - diagnostic imaging | Cystic Fibrosis - genetics | Mutagenesis, Insertional | Pancreatic diseases | Genes | Trypsin | 3' Untranslated regions | Clonal deletion | Fibrosis | Insertion | Cystic fibrosis | Lipomatosis | Pancreatic secretory trypsin | Children | Pancreas | Gene deletion | Index Medicus
Journal Article
Gastroenterology, ISSN 0016-5085, 2006, Volume 131, Issue 6, pp. 1856 - 1869
Journal Article