X
Search Filters
Format Format
Subjects Subjects
Subjects Subjects
X
Sort by Item Count (A-Z)
Filter by Count
humans (81) 81
genetics & heredity (68) 68
female (56) 56
male (46) 46
index medicus (39) 39
child, preschool (31) 31
child (29) 29
phenotype (27) 27
infant (26) 26
mutations (20) 20
smith-lemli-opitz syndrome - genetics (20) 20
adolescent (18) 18
mutation (18) 18
infant, newborn (17) 17
adult (16) 16
abnormalities, multiple - genetics (15) 15
pregnancy (15) 15
7-dehydrocholesterol (14) 14
dhcr7 (14) 14
smith-lemli-opitz syndrome (14) 14
article (13) 13
chromosome deletion (13) 13
in situ hybridization, fluorescence (12) 12
intellectual disability - genetics (12) 12
smith-lemli-opitz syndrome - diagnosis (12) 12
diagnosis (11) 11
prenatal diagnosis (11) 11
smith‐lemli‐opitz syndrome (11) 11
facies (10) 10
gene (9) 9
genetics (9) 9
genotype (9) 9
oxidoreductases - genetics (9) 9
oxidoreductases acting on ch-ch group donors (9) 9
karyotyping (8) 8
mental-retardation (8) 8
research (8) 8
syndrome (8) 8
7‐dehydrocholesterol (7) 7
animals (7) 7
gene mutations (7) 7
genetic aspects (7) 7
heterozygote (7) 7
patient (7) 7
smith-lemli-opitz syndrome - epidemiology (7) 7
carrier frequency (6) 6
cholesterol (6) 6
chromosome mapping (6) 6
comparative genomic hybridization (6) 6
developmental disabilities - genetics (6) 6
dhcr7 mutations (6) 6
face - abnormalities (6) 6
gene deletion (6) 6
genes (6) 6
genetic disorders (6) 6
medical genetics (6) 6
oxidoreductases - deficiency (6) 6
pediatrics (6) 6
pedigree (6) 6
physiological aspects (6) 6
reductase gene (6) 6
smith-lemli-opitz syndrome - enzymology (6) 6
spectrum (6) 6
young adult (6) 6
abnormalities, multiple - pathology (5) 5
autism (5) 5
craniofacial abnormalities - genetics (5) 5
dehydrocholesterols - blood (5) 5
delta-7-sterol reductase (5) 5
delta-7-sterol reductase gene (5) 5
dna mutational analysis (5) 5
duplication (5) 5
fetus (5) 5
gene duplication (5) 5
mutation, missense (5) 5
oxidoreductases acting on ch-ch group donors - genetics (5) 5
point mutation (5) 5
age (4) 4
alleles (4) 4
base sequence (4) 4
biochemistry & molecular biology (4) 4
causes of (4) 4
cholesterol - blood (4) 4
chromosome banding (4) 4
defective cholesterol-biosynthesis (4) 4
diagnosis, differential (4) 4
expression (4) 4
family (4) 4
homozygote (4) 4
identification (4) 4
incidence (4) 4
intellectual disability (4) 4
long arm (4) 4
mice (4) 4
abnormalities (3) 3
abnormalities, multiple (3) 3
agenesis (3) 3
akt3 (3) 3
analysis (3) 3
anomalies (3) 3
more...
Language Language
Publication Date Publication Date
Click on a bar to filter by decade
Slide to change publication date range


CMAJ, ISSN 0820-3946, 09/2014, Volume 186, Issue 13, p. 1019
Journal Article
Nature Genetics, ISSN 1061-4036, 2012, Volume 44, Issue 4, pp. 440 - 444, S1-2
Journal Article
CANADIAN MEDICAL ASSOCIATION JOURNAL, ISSN 0820-3946, 09/2014, Volume 186, Issue 13, pp. 1019 - 1019
  Once, as a hospital volunteer, she lost her lunch while watching a percutaneous needle biopsy of a coin lesion of the lung through a window in the... 
MEDICINE, GENERAL & INTERNAL | Medical personnel | Practice | Social aspects | Physicians | Medical residencies | Medical ethics | Humanities
Journal Article
Journal Article
by Chong, Jessica X and McMillin, Margaret J and Shively, Kathryn M and Beck, Anita E and Marvin, Colby T and Armenteros, Jose R and Buckingham, Kati J and Nkinsi, Naomi T and Boyle, Evan A and Berry, Margaret N and Bocian, Maureen and Foulds, Nicola and Uzielli, Maria Luisa Giovannucci and Haldeman-Englert, Chad and Hennekam, Raoul C.M and Kaplan, Paige and Kline, Antonie D and Mercer, Catherine L and Nowaczyk, Malgorzata J.M and Klein Wassink-Ruiter, Jolien S and McPherson, Elizabeth W and Moreno, Regina A and Scheuerle, Angela E and Shashi, Vandana and Stevens, Cathy A and Carey, John C and Monteil, Arnaud and Lory, Philippe and Tabor, Holly K and Smith, Joshua D and Shendure, Jay and Nickerson, Deborah A and Bamshad, Michael J and Bamshad, Michael J and Abecasis, Gonçalo R and Anderson, Peter and Blue, Elizabeth Marchani and Annable, Marcus and Browning, Brian L and Chen, Christina and Chin, Jennifer and Cooper, Gregory M and Davis, Colleen P and Frazar, Christopher and Harrell, Tanya M and He, Zongxiao and Jain, Preti and Jarvik, Gail P and Jimenez, Guillaume and Johanson, Eric and Jun, Goo and Kircher, Martin and Kolar, Tom and Krauter, Stephanie A and Krumm, Niklas and Leal, Suzanne M and Luksic, Daniel and McGee, Sean and O’Reilly, Patrick and Paeper, Bryan and Patterson, Karynne and Perez, Marcos and Phillips, Sam W and Pijoan, Jessica and Poel, Christa and Reinier, Frederic and Robertson, Peggy D and Santos-Cortez, Regie and Shaffer, Tristan and Shephard, Cindy and Siegel, Deborah L and Staples, Jeffrey C and Tackett, Monica and Underwood, Jason G and Wegener, Marc and Wang, Gao and Wheeler, Marsha M and Yi, Qian and Univ Washington and University of Washington Center for Mendelian Genomics
The American Journal of Human Genetics, ISSN 0002-9297, 03/2015, Volume 96, Issue 3, pp. 462 - 473
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 03/2016, Volume 98, Issue 3, pp. 579 - 587
Journal Article
Journal Article
European Journal of Human Genetics, ISSN 1018-4813, 01/2015, Volume 23, Issue 3, pp. 292 - 301
Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 08/2012, Volume 158A, Issue 8, pp. 1941 - 1947
Over the last 30 years medicine has undergone a significant paradigm shift. Due to the tremendous advances of modern medicine more and more people are living... 
reflective practice | patient narrative | close reading | physician narrative | narrative medicine | Physician narrative | Narrative medicine | Close reading | Reflective practice | Patient narrative | GENETICS & HEREDITY | STORIES | Narration | Humans | Genetics, Medical | Career development | Social workers | Medical genetics
Journal Article
by Koczkowska, Magdalena and Callens, Tom and Chen, Yunjia and Gomes, Alicia and Hicks, Alesha D and Sharp, Angela and Johns, Eric and Uhas, Kim Armfield and Armstrong, Linlea and Bosanko, Katherine Armstrong and Babovic‐Vuksanovic, Dusica and Baker, Laura and Basel, Donald G and Bengala, Mario and Bennett, James T and Chambers, Chelsea and Clarkson, Lola K and Clementi, Maurizio and Cortés, Fanny M and Cunningham, Mitch and D'Agostino, M. Daniela and Delatycki, Martin B and Digilio, Maria C and Dosa, Laura and Esposito, Silvia and Fox, Stephanie and Freckmann, Mary‐Louise and Fauth, Christine and Giugliano, Teresa and Giustini, Sandra and Goetsch, Allison and Goldberg, Yael and Greenwood, Robert S and Griffis, Cristin and Gripp, Karen W and Gupta, Punita and Haan, Eric and Hachen, Rachel K and Haygarth, Tamara L and Hernández‐Chico, Concepción and Hodge, Katelyn and Hopkin, Robert J and Hudgins, Louanne and Janssens, Sandra and Keller, Kory and Kelly‐Mancuso, Geraldine and Kochhar, Aaina and Korf, Bruce R and Lewis, Andrea M and Liebelt, Jan and Lichty, Angie and Listernick, Robert H and Lyons, Michael J and Maystadt, Isabelle and Ojeda, Mayra Martinez and McDougall, Carey and McGregor, Lesley K and Melis, Daniela and Mendelsohn, Nancy and Nowaczyk, Malgorzata J.M and Ortenberg, June and Panzer, Karin and Pappas, John G and Pierpont, Mary Ella and Piluso, Giulio and Pinna, Valentina and Pivnick, Eniko K and Pond, Dinel A and Powell, Cynthia M and Rogers, Caleb and Shahar, Noa Ruhrman and Rutledge, S. Lane and Saletti, Veronica and Sandaradura, Sarah A and Santoro, Claudia and Schatz, Ulrich A and Schreiber, Allison and Scott, Daryl A and Sellars, Elizabeth A and Sheffer, Ruth and Siqveland, Elizabeth and Slopis, John M and Smith, Rosemarie and Spalice, Alberto and Stockton, David W and Streff, Haley and Theos, Amy and Tomlinson, Gail E and Tran, Grace and Trapane, Pamela L and Trevisson, Eva and Ullrich, Nicole J and Van den Ende, Jenneke and Schrier Vergano, Samantha A and Wallace, Stephanie E and Wangler, Michael F and Weaver, David D and Yohay, Kaleb H and Zackai, Elaine and Zonana, Jonathan and ...
Human Mutation, ISSN 1059-7794, 10/2019
Journal Article
Genetics in Medicine, ISSN 1098-3600, 01/2017, Volume 19, Issue 1, pp. 53 - 61
Journal Article