X
Search Filters
Format Format
Format Format
X
Sort by Item Count (A-Z)
Filter by Count
Journal Article (248) 248
Newspaper Article (92) 92
Publication (42) 42
Book Review (26) 26
Book Chapter (7) 7
Patent (5) 5
Conference Proceeding (2) 2
Book / eBook (1) 1
Dissertation (1) 1
more...
Subjects Subjects
Subjects Subjects
X
Sort by Item Count (A-Z)
Filter by Count
index medicus (177) 177
humans (170) 170
genetics & heredity (128) 128
female (83) 83
male (81) 81
child (55) 55
infant (54) 54
phenotype (44) 44
article (41) 41
child, preschool (41) 41
in situ hybridization, fluorescence (40) 40
alagille syndrome - genetics (37) 37
serrate-jagged proteins (35) 35
alagille syndrome (33) 33
infant, newborn (33) 33
mutation (33) 33
jagged-1 protein (31) 31
mutations (31) 31
gene (30) 30
genomics (26) 26
adolescent (25) 25
adult (25) 25
genetics (25) 25
karyotyping (24) 24
membrane proteins - genetics (24) 24
mosaicism (24) 24
pediatrics (24) 24
chromosome banding (23) 23
chromosome deletion (23) 23
chromosome mapping (23) 23
genes (23) 23
animals (21) 21
arteriohepatic dysplasia (20) 20
genetic aspects (20) 20
pedigree (20) 20
proteins - genetics (20) 20
deletion (19) 19
genotype (19) 19
intercellular signaling peptides and proteins (19) 19
research (19) 19
calcium-binding proteins (18) 18
calcium-binding proteins - genetics (18) 18
chromosomes (18) 18
membrane proteins (17) 17
analysis (16) 16
intercellular signaling peptides and proteins - genetics (16) 16
molecular sequence data (16) 16
polymorphism, single nucleotide (16) 16
children (15) 15
genomes (15) 15
abnormalities, multiple - genetics (14) 14
biochemistry & molecular biology (14) 14
disease (14) 14
expression (14) 14
genetic disorders (14) 14
jagged1 (14) 14
pregnancy (14) 14
alagille syndrome - diagnosis (13) 13
amino acid sequence (13) 13
cholestasis (13) 13
comparative genomic hybridization (13) 13
genetic research (13) 13
genetic testing (13) 13
mice (13) 13
sequence analysis, dna (13) 13
abridged index medicus (12) 12
base sequence (12) 12
genome, human (12) 12
diagnosis (11) 11
dna mutational analysis (11) 11
frequency (11) 11
gene expression (11) 11
polymorphism, single nucleotide - genetics (11) 11
alagille syndrome - pathology (10) 10
alagille-syndrome (10) 10
cytogenetics (10) 10
defects (10) 10
dna (10) 10
exome (10) 10
gastroenterology & hepatology (10) 10
gene duplication (10) 10
jag1 (10) 10
oligonucleotide array sequence analysis (10) 10
paucity (10) 10
syndrome (10) 10
trisomy (10) 10
alagille syndrome - complications (9) 9
cloning, molecular (9) 9
cytogenetic analysis (9) 9
deletions (9) 9
identification (9) 9
intellectual disability - genetics (9) 9
ligand (9) 9
mutation - genetics (9) 9
polymorphism (9) 9
uniparental disomy (9) 9
biotechnology & applied microbiology (8) 8
cell line (8) 8
cohort studies (8) 8
dna microarrays (8) 8
more...
Language Language
Publication Date Publication Date
Click on a bar to filter by decade
Slide to change publication date range


2007, American journal of medical genetics., Volume 145C, no. 4., 323-398
Book
Nature Medicine, ISSN 1078-8956, 03/2019, Volume 25, Issue 3, pp. 361 - 362
Non-invasive prenatal diagnostics allow for the successful identification of paternally inherited and de novo mongenic diseases using circulating cell-free DNA. 
MEDICINE, RESEARCH & EXPERIMENTAL | ANEUPLOIDY | DNA | BIOCHEMISTRY & MOLECULAR BIOLOGY | CELL BIOLOGY | Pregnancy | Cell-Free Nucleic Acids | Humans | Prenatal Diagnosis | Female | Fetus | Prenatal Care | Medical colleges | Care and treatment | Genetic disorders | Pregnant women | Analysis | Research | Health aspects | Deoxyribonucleic acid--DNA | Index Medicus
Journal Article
American Journal of Medical Genetics Part C: Seminars in Medical Genetics, ISSN 1552-4868, 06/2016, Volume 172, Issue 2, pp. 87 - 91
Journal Article
Human Mutation, ISSN 1059-7794, 07/2012, Volume 33, Issue 7, pp. v - v
Journal Article
American Journal of Medical Genetics Part C: Seminars in Medical Genetics, ISSN 1552-4868, 12/2014, Volume 166, Issue 4, pp. 397 - 405
Journal Article
Human Mutation, ISSN 1059-7794, 07/2011, Volume 32, Issue 7, pp. v - v
Journal Article
by Green, Robert C and Green, Robert and Goddard, Katrina and Goddard, Katrina A.B and Jarvik, Gail P and Amendola, Laura M and Amendola, Laura and Appelbaum, Paul S and Berg, Jonathan S and Bernhardt, Barbara A and Biesecker, Barbara B and Biesecker, Leslie G and Biswas, Sawona and Blout, Carrie L and Bowling, Kevin M and Brothers, Kyle B and Burke, Wylie and Caga-anan, Charlisse F and Chinnaiyan, Arul M and Chung, Wendy K and Chung, Wendy and Clayton, Ellen and Clayton, Ellen W and Cooper, Greg M and Cooper, Gregory M and East, Kelly and East, Kelly M and Evans, James P and Evans, Barbara and Fullerton, Stephanie M and Garraway, Levi A and Garrett, Jeremy R and Gray, David E and Gray, Stacy W and Henderson, Gail E and Hindorff, Lucia A and Holm, Ingrid A and Lewis, Michelle and Lewis, Katie and Lewis, Michelle Huckaby and Hutter, Carolyn M and Janne, Pasi A and Joffe, Steve and Joffe, Steven and Kaufman, Dave and Kaufman, David and Knoppers, Bartha and Knoppers, Bartha M and Koenig, Barbara A and Krantz, Ian and Krantz, Ian D and Manolio, Teri A and McCullough, Laurence and McEwen, Jean and McGuire, Amy and Muzny, Donna and Myers, Richard M and Nickerson, Deborah A and Ou, Jeffrey and Parsons, Will and Parsons, Donald W and Petersen, Gloria and Petersen, Gloria M and Plon, Sharon and Plon, Sharon E and Rehm, Heidi L and Roberts, Scott and Roberts, J. Scott and Robinson, Marguerite E and Robinson, Jill O and Robinson, Dan and Salama, Joseph and Salama, Joseph S and Scollon, Sarah and Sharp, Richard R and Shirts, Brian and Shirts, Brian H and Spinner, Nancy B and Tabor, Holly K and Tarczy-Hornoch, Peter and Veenstra, David L and Wagle, Nikhil and Weck, Karen and Wilfond, Ben and Wilfond, Benjamin S and Wilhelmsen, Kirk C and Wilhelmsen, Kirk and Wolf, Susan M and Wynn, Julia and Yu, Joon-Ho and Amaral, Michelle and Aronson, Samuel J and Arora, Shubhangi and Azzariti, Danielle R and Barsh, Greg S and Bebin, E.M and Brown, Brian L and Burt, Amber A and Byers, Peter H and Calikoglu, Muge G and ... and CSER Consortium
The American Journal of Human Genetics, ISSN 0002-9297, 06/2016, Volume 98, Issue 6, pp. 1051 - 1066
Journal Article
Cancer Genetics, ISSN 2210-7762, 08/2018, Volume 224-225, pp. 51 - 51
Journal Article
by Walsh, Tom and Gary, Sydney and Sutcliffe, James S and Addington, Anjene M and Chitkara, Nisha and Levy, Deborah L and Cichon, Sven and DeRosse, Pamela and Malhotra, Anil K and Leibenluft, Ellen and Dickel, Diane E and Lee, Yoon-ha and Zackai, Elaine H and Stroup, T Scott and McCarthy, Shane E and Crow, Timothy J and McMahon, Francis J and Lakshmi, B and Christian, Susan L and Malhotra, Dheeraj and McClellan, Jon and Goodell, Meredith and Spinner, Nancy B and Pearl, Justin and Wolff, Jessica and Bhandari, Abhishek and Iakoucheva, Lilia M and Deutsch, Curtis K and Pavon, Kevin and Nöthen, Markus M and Gallagher, Louise and Roccanova, Patricia and Lieberman, Jeffrey A and DeLisi, Lynn E and Puura, Kaija and Skuse, David and Rapoport, Judith and Willour, Virginia L and Kirov, George and Vacic, Vladimir and Makarov, Vladimir and Haldeman-Englert, Chad and Sullivan, Patrick F and Schulze, Thomas G and Craddock, Nick and Kendall, Jude and Perkins, Diana O and Kusenda, Mary and Lehtimäki, Terho and Kassem, Layla and Yoon, Seungtai and Krastoshevsky, Olga and Sebat, Jonathan and Owen, Michael J and Ganesh, Jaya and Gill, Michael and King, Mary-Claire and Steele, Jo and Krause, Verena and Susser, Ezra and Mendell, Nancy R and Leotta, Anthony and Shaikh, Tamim H and Kaplan, Paige and Potash, James B and Krantz, Ian D and Grozeva, Detelina and Lajonchere, Clara M and O'Donovan, Michael C and Kustanovich, Vlad and Rietschel, Marcella and Kumar, Ravinesh A and Wellcome Trust Case Control Consor and Wellcome Trust Case Control Consortium
Nature Genetics, ISSN 1061-4036, 11/2009, Volume 41, Issue 11, pp. 1223 - 1227
Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 04/2015, Volume 167, Issue 4, pp. 891 - 893
Journal Article