X
Search Filters
Format Format
Subjects Subjects
Subjects Subjects
X
Sort by Item Count (A-Z)
Filter by Count
index medicus (14) 14
female (11) 11
humans (11) 11
genetics & heredity (10) 10
male (10) 10
adult (7) 7
medicine, research & experimental (7) 7
biochemistry & molecular biology (6) 6
child (6) 6
infant (6) 6
child, preschool (5) 5
adolescent (4) 4
diagnosis (3) 3
management (3) 3
middle aged (3) 3
pedigree (3) 3
phenotype (3) 3
age of onset (2) 2
amyloid (2) 2
amyloid neuropathies - epidemiology (2) 2
amyloid neuropathies, familial - epidemiology (2) 2
cells (2) 2
congenital, hereditary, and neonatal diseases and abnormalities (2) 2
early diagnosis (2) 2
enzyme-replacement therapy (2) 2
epidemiology (2) 2
family (2) 2
genotype (2) 2
infant, newborn (2) 2
japan (2) 2
l-iduronidase laronidase (2) 2
medicine (2) 2
medicine, general & internal (2) 2
mosaicism (2) 2
mucopolysaccharidosis i - genetics (2) 2
mucopolysaccharidosis type-i (2) 2
mutation (2) 2
nutritional and metabolic diseases (2) 2
onset (2) 2
polyneuropathy (2) 2
prealbumin - genetics (2) 2
prevalence (2) 2
registry (2) 2
retrospective studies (2) 2
symptoms (2) 2
tafamidis (2) 2
transthyretin (2) 2
21-monosomy (1) 1
[ sdv.bc ] life sciences [q-bio]/cellular biology (1) 1
a-dystroglycan (1) 1
abnormalities, multiple - genetics (1) 1
abnormalities, multiple - pathology (1) 1
abortion, therapeutic (1) 1
abridged index medicus (1) 1
absence (1) 1
acid beta -glucosidase (1) 1
activities of daily living (1) 1
age (1) 1
aged (1) 1
airway (1) 1
amniocentesis (1) 1
amyloid - genetics (1) 1
amyloid neuropathies - genetics (1) 1
amyloid neuropathies - pathology (1) 1
amyloid neuropathies, familial - genetics (1) 1
amyloid neuropathies, familial - pathology (1) 1
amyloidosis (1) 1
analysis (1) 1
anemia - drug therapy (1) 1
article (1) 1
articles (1) 1
asia - epidemiology (1) 1
attr (1) 1
attr-fap (1) 1
attr‐fap (1) 1
autosomal recessive (1) 1
basal cell nevus syndrome - embryology (1) 1
basal cell nevus syndrome - genetics (1) 1
basic science research (1) 1
blotting, southern (1) 1
blotting, western (1) 1
bone-marrow-transplantation (1) 1
break-induced replication (1) 1
calpain - metabolism (1) 1
care and treatment (1) 1
case series (1) 1
cell cycle checkpoints (1) 1
cell division (1) 1
cell lineage (1) 1
cellular biology (1) 1
children (1) 1
chromosome 19 (1) 1
chromosome aberrations - genetics (1) 1
chromosome disorders (1) 1
chromosome mosaicism (1) 1
chromosomes, human, pair 15 (1) 1
chromosomes, human, pair 19 - genetics (1) 1
chromosomes, human, pair 21 (1) 1
chromosomes, human, pair 4 (1) 1
chromosomes, human, pair 9 (1) 1
more...
Library Location Library Location
Language Language
Publication Date Publication Date
Click on a bar to filter by decade
Slide to change publication date range


Journal Article
Muscle & Nerve, ISSN 0148-639X, 05/2018, Volume 57, Issue 5, pp. 829 - 837
Journal Article
Annals of Otology, Rhinology & Laryngology, ISSN 0003-4894, 3/2015, Volume 124, Issue 3, pp. 198 - 205
Journal Article
Molecular Genetics and Metabolism, ISSN 1096-7192, 02/2014, Volume 111, Issue 2, pp. S43 - S43
Journal Article
Human Molecular Genetics, ISSN 0964-6906, 12/2001, Volume 10, Issue 25, pp. 2851 - 2859
The limb girdle and congenital muscular dystrophies (LGMD and CMD) are characterized by skeletal muscle weakness and dystrophic muscle changes. The onset of... 
chromosome 19 | a-Dystroglycan | limb girdle muscular dystrophy | FKRP gene | fukutin-related protein | limb-girdle muscular dystrophy
Journal Article
Journal Article
Molecular Genetics and Metabolism, ISSN 1096-7192, 02/2013, Volume 108, Issue 2, pp. S39 - S39
Journal Article
Nature Genetics, ISSN 1061-4036, 1996, Volume 12, Issue 1, pp. 85 - 87
Many birth defects that are rare in the general population duster in families. A two-hit mechanism, similar to Knudson's model for neoplasia, could explain... 
TUMOR | MUTATION | GENETICS & HEREDITY | Sequence Deletion | Genes, Dominant | Pedigree | Humans | Basal Cell Nevus Syndrome - embryology | Jaw Cysts - genetics | Female | Male | Basal Cell Nevus Syndrome - genetics | Chromosomes, Human, Pair 9 | Genetic Markers | Genes, Tumor Suppressor
Journal Article
Orphanet Journal of Rare Diseases, ISSN 1750-1172, 02/2019, Volume 14, Issue 1, pp. 34 - 34
Journal Article
American Journal of Medical Genetics, ISSN 0148-7299, 08/1996, Volume 64, Issue 3, pp. 485 - 487
Journal Article
American Journal of Medical Genetics, ISSN 0148-7299, 01/1999, Volume 82, Issue 1, pp. 15 - 19
Journal Article
American Journal of Medical Genetics, ISSN 0148-7299, 08/1996, Volume 64, Issue 3, pp. 485 - 487
We describe an infant with congenital vocal cord paralysis born to consanguineous parents. While autosomal dominant and X-linked inheritance have been... 
vocal cord paralysis | vagus | autosomal recessive | LARYNGEAL ABDUCTOR PARALYSIS | DEFECTS | GENETICS & HEREDITY | DYSFUNCTION | Vocal Cord Paralysis - congenital | Genes, Recessive - genetics | Pedigree | Humans | Vocal Cord Paralysis - genetics | Adult | Female | Male | Consanguinity | Infant, Newborn | Index Medicus
Journal Article
Journal Article
No results were found for your search.

Cannot display more than 1000 results, please narrow the terms of your search.