X
Search Filters
Format Format
Subjects Subjects
Subjects Subjects
X
Sort by Item Count (A-Z)
Filter by Count
humans (45) 45
female (35) 35
male (35) 35
genetics & heredity (29) 29
index medicus (28) 28
mutation (23) 23
article (19) 19
child (18) 18
adult (15) 15
child, preschool (15) 15
genetics (14) 14
genomics (13) 13
adolescent (11) 11
genes (11) 11
pedigree (11) 11
phenotype (11) 11
animals (10) 10
genetic aspects (10) 10
molecular sequence data (10) 10
genotype & phenotype (9) 9
infant (9) 9
mutations (9) 9
biochemistry & molecular biology (8) 8
dna mutational analysis (8) 8
research (8) 8
amino acid sequence (7) 7
analysis (7) 7
base sequence (7) 7
gene (7) 7
immunology (7) 7
proteins (7) 7
cell biology (6) 6
genetic predisposition to disease (6) 6
genetic research (6) 6
molecular medicine (6) 6
mutation - genetics (6) 6
point mutation (6) 6
age of onset (5) 5
disease (5) 5
exome (5) 5
gene mutations (5) 5
heterozygote (5) 5
human genetics (5) 5
marie-tooth-disease (5) 5
medical genetics (5) 5
mice (5) 5
mutation, missense (5) 5
neurology (5) 5
sequence analysis, dna (5) 5
sequence deletion (5) 5
whole-exome sequencing (5) 5
aged (4) 4
biomedicine (4) 4
charcot-marie-tooth disease - genetics (4) 4
defects (4) 4
deficiency (4) 4
dna-binding proteins - genetics (4) 4
gene frequency (4) 4
genetic complementation test (4) 4
genetic testing (4) 4
genomes (4) 4
genotype (4) 4
hereditary sensory and motor neuropathy - genetics (4) 4
hereditary sensory and motor neuropathy - pathology (4) 4
immunologic deficiency syndromes - genetics (4) 4
infant, newborn (4) 4
intellectual disability (4) 4
medical colleges (4) 4
middle aged (4) 4
polymerase chain reaction (4) 4
population (4) 4
sequence homology, amino acid (4) 4
transcription factors - genetics (4) 4
young adult (4) 4
abridged index medicus (3) 3
age (3) 3
alleles (3) 3
allergy and immunology (3) 3
amino acid substitution (3) 3
apoptosis (3) 3
articles (3) 3
bare lymphocyte syndrome (3) 3
brain - pathology (3) 3
clinical neurology (3) 3
cohort studies (3) 3
connexin 26 (3) 3
connexins - genetics (3) 3
disease models, animal (3) 3
dna copy number variations (3) 3
dna microarrays (3) 3
dna-binding proteins - metabolism (3) 3
exome - genetics (3) 3
exons (3) 3
expression (3) 3
genes, mhc class ii (3) 3
genetic disorders (3) 3
haplotypes (3) 3
homozygote (3) 3
incidental findings (3) 3
macular degeneration (3) 3
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


2006, Seria Filmoznawcza UAM, ISBN 832321607X, Volume nr 5, 189
Book
by Stray-Pedersen, Asbjørg, MD, PhD and Sorte, Hanne Sørmo, MS and Samarakoon, Pubudu, MS and Gambin, Tomasz, PhD and Chinn, Ivan K., MD and Coban Akdemir, Zeynep H., PhD and Erichsen, Hans Christian, MD, PhD and Forbes, Lisa R., MD and Gu, Shen, PhD and Yuan, Bo, PhD and Jhangiani, Shalini N., MS and Muzny, Donna M., MS and Rødningen, Olaug Kristin, PhD and Sheng, Ying, PhD and Nicholas, Sarah K., MD, PhD and Noroski, Lenora M., MD, MPH and Seeborg, Filiz O., MD, MPH and Davis, Carla M., MD and Canter, Debra L., MS and Mace, Emily M., PhD and Vece, Timothy J., MD and Allen, Carl E., MD, PhD and Abhyankar, Harshal A., MS and Boone, Philip M., MD, PhD and Beck, Christine R., PhD and Wiszniewski, Wojciech, MD, PhD and Fevang, Børre, MD, PhD and Aukrust, Pål, MD, PhD and Tjønnfjord, Geir E., MD, PhD and Gedde-Dahl, Tobias, MD, PhD and Hjorth-Hansen, Henrik, MD, PhD and Dybedal, Ingunn, MD, PhD and Nordøy, Ingvild, MD, PhD and Jørgensen, Silje F., MD and Abrahamsen, Tore G., MD, PhD and Øverland, Torstein, MD and Bechensteen, Anne Grete, MD, PhD and Skogen, Vegard, MD, PhD and Osnes, Liv T.N., MD, PhD and Kulseth, Mari Ann, PhD and Prescott, Trine E., MD and Rustad, Cecilie F., MD and Heimdal, Ketil R., MD, PhD and Belmont, John W., MD, PhD and Rider, Nicholas L., DO and Chinen, Javier, MD, PhD and Cao, Tram N., MS and Smith, Eric A., BSc and Caldirola, Maria Soledad, BSc and Bezrodnik, Liliana, MD and Lugo Reyes, Saul Oswaldo, MD and Espinosa Rosales, Francisco J., MD and Guerrero-Cursaru, Nina Denisse, BSc and Pedroza, Luis Alberto, PhD and Poli, Cecilia M., MD and Franco, Jose L., MD, PhD and Trujillo Vargas, Claudia M., PhD and Aldave Becerra, Juan Carlos, MD and Wright, Nicola, MD and Issekutz, Thomas B., MD and Issekutz, Andrew C., MD and Abbott, Jordan, MD and Caldwell, Jason W., DO and Bayer, Diana K., DO and Chan, Alice Y., MD, PhD and Aiuti, Alessandro, MD, PhD and Cancrini, Caterina, MD, PhD and Holmberg, Eva, MD and West, Christina, MD, PhD and Burstedt, Magnus, MD, PhD and Karaca, Ender, MD and Yesil, Gözde, MD and Artac, Hasibe, MD and Bayram, Yavuz, MD and Atik, Mehmed Musa, BSc and Eldomery, Mohammad K., MD and Ehlayel, Mohammad S., MD, PhD and Jolles, Stephen, MD, PhD and Flatø, Berit, MD, PhD and Bertuch, Alison A., MD, PhD and Hanson, I. Celine, MD and Zhang, Victor W., PhD and Wong, Lee-Jun, PhD and Hu, Jianhong, PhD and Walkiewicz, Magdalena, PhD and Yang, Yaping, PhD and Eng, Christine M., MD and Boerwinkle, Eric, PhD and Gibbs, Richard A., PhD and Shearer, William T., MD, PhD and Lyle, Robert, PhD and Orange, Jordan S., MD, PhD and Lupski, James R., MD, PhD, DSc (Hon) and Medicinska fakulteten and Institutionen för klinisk vetenskap and Pediatrik and Umeå universitet
Journal of Allergy and Clinical Immunology, The, ISSN 0091-6749, 2016, Volume 139, Issue 1, pp. 232 - 245
Journal Article
Journal of Allergy and Clinical Immunology, The, ISSN 0091-6749, 2016, Volume 139, Issue 2, pp. AB172 - AB172
  [...]9 families with likely molecular diagnoses had one variant in a PIDD-associated gene, an atypical presentation for that gene defect, and other relevant... 
Allergy and Immunology | Medical colleges | Genes | Genotype & phenotype | Defects
Journal Article
Journal of Allergy and Clinical Immunology, The, ISSN 0091-6749, 2016, Volume 138, Issue 4, pp. 1142 - 1151.e2
Journal Article
Cell Reports, ISSN 2211-1247, 08/2015, Volume 12, Issue 7, pp. 1169 - 1183
Journal Article
Neuron, ISSN 0896-6273, 11/2015, Volume 88, Issue 3, pp. 499 - 513
Journal Article
Nature Genetics, ISSN 1061-4036, 05/2015, Volume 47, Issue 6, pp. 654 - 660
Journal Article
Genome Medicine, ISSN 1756-994X, 03/2017, Volume 9, Issue 1, p. 26
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 08/2015, Volume 97, Issue 2, pp. 199 - 215
Journal Article