X
Search Filters
Format Format
Subjects Subjects
Subjects Subjects
X
Sort by Item Count (A-Z)
Filter by Count
genetics & heredity (4) 4
humans (4) 4
index medicus (4) 4
male (4) 4
adolescent (3) 3
female (3) 3
abnormalities, multiple - genetics (2) 2
child (2) 2
child, preschool (2) 2
chromosomes (2) 2
cis-regulation (2) 2
genetics (2) 2
microduplication (2) 2
microhomology-mediated break-induced replication (2) 2
neurofibromatosis 1 - genetics (2) 2
satellite repeats (2) 2
young adult (2) 2
15q (1) 1
abnormalities, multiple - pathology (1) 1
adolescence (1) 1
adolescents (1) 1
alveolar-capillary dysplasia (1) 1
amino acid sequence (1) 1
analysis (1) 1
animals (1) 1
arachnodactyly (1) 1
article (1) 1
barretts-esophagus (1) 1
biology and life sciences (1) 1
bone (1) 1
bone density (1) 1
bone diseases, developmental - epidemiology (1) 1
bone mineral density (1) 1
bone-mineral-density (1) 1
calcium, dietary (1) 1
care and treatment (1) 1
cell adhesion & migration (1) 1
chromosomes, human, pair 15 (1) 1
chromosomes, human, pair 16 - genetics (1) 1
codon - genetics (1) 1
codons 844–848 (1) 1
cohort studies (1) 1
comparative analysis (1) 1
computer simulation (1) 1
congenital (1) 1
congenital pseudoarthrosis (1) 1
congenital, hereditary, and neonatal diseases and abnormalities (1) 1
consent (1) 1
csrd (1) 1
cytogenetics (1) 1
defects (1) 1
demography (1) 1
diagnosis (1) 1
dna replication (1) 1
dna sequencing (1) 1
drug dosages (1) 1
dysplasia (1) 1
evolution, molecular (1) 1
forkhead box f1 (1) 1
forkhead transcription factors - genetics (1) 1
fractures (1) 1
fractures, bone (1) 1
fractures, bone - epidemiology (1) 1
gene (1) 1
gene dosage (1) 1
gene duplication (1) 1
gene foxf1 (1) 1
genes (1) 1
genetic aspects (1) 1
genetic association studies (1) 1
genetic counseling (1) 1
genotype-phenotype correlation (1) 1
heart defects (1) 1
heart defects, congenital - genetics (1) 1
heterozygote (1) 1
human (1) 1
human genome (1) 1
human medicine (1) 1
in situ hybridization, fluorescence (1) 1
infant, newborn (1) 1
karyotyping (1) 1
laboratories (1) 1
lung developmental disorder (1) 1
medicine (1) 1
medicine and health sciences (1) 1
mental-retardation (1) 1
middle aged (1) 1
minisatellite repeats (1) 1
missense mutation (1) 1
mosaic tetrasomy (1) 1
motor activity (1) 1
mpnst (1) 1
mutation (1) 1
mutation, missense - genetics (1) 1
natural-history (1) 1
nerve sheath tumors (1) 1
neurofibromatosis 1 (1) 1
neurofibromatosis 1 - epidemiology (1) 1
neurofibromatosis type 1 (1) 1
neurofibromatosis type-i (1) 1
more...
Language Language
Publication Date Publication Date
Click on a bar to filter by decade
Slide to change publication date range


American Journal of Medical Genetics Part A, ISSN 1552-4825, 08/2012, Volume 158A, Issue 8, pp. 1971 - 1976
We report on a male neonate with prenatally diagnosed mosaicism for a supernumerary marker chromosome and multiple congenital anomalies. Prenatal ultrasound... 
Arachnodactyly
Journal Article
by Koczkowska, Magdalena and Chen, Zhenbin and Chen, Yunjia and Callens, Tom and Gomes, Alicia and Sharp, Angela and Johnson, Sherrell and Hsiao, Meng-Chang and Balasubramanian, Meena and Barnett, Christopher P and Becker, Troy A and Ben-Shachar, Shay and Bertola, Debora R and Blakeley, Jaishri O and Burkitt-Wright, Emma M.M and Callaway, Alison and Crenshaw, Melissa and Cunha, Karin S and Cunningham, Mitch and D’Agostino, Maria D and Dahan, Karin and De Luca, Alessandro and Destrée, Anne and Dhamija, Radhika and Eoli, Marica and Evans, D. Gareth R and Galvin-Parton, Patricia and George-Abraham, Jaya K and Gripp, Karen W and Guevara-Campos, Jose and Hanchard, Neil A and Hernández-Chico, Concepcion and Immken, LaDonna and Janssens, Sandra and Jones, Kristi J and Keena, Beth A and Kochhar, Aaina and Liebelt, Jan and Martir-Negron, Arelis and Mahoney, Maurice J and Maystadt, Isabelle and McDougall, Carey and McEntagart, Meriel and Mendelsohn, Nancy and Miller, David T and Mortier, Geert and Morton, Jenny and Pappas, John and Plotkin, Scott R and Pond, Dinel and Rosenbaum, Kenneth and Rubin, Karol and Russell, Laura and Rutledge, Lane S and Saletti, Veronica and Schonberg, Rhonda and Schreiber, Allison and Seidel, Meredith and Siqveland, Elizabeth and Stockton, David W and Trevisson, Eva and Ullrich, Nicole J and Upadhyaya, Meena and van Minkelen, Rick and Verhelst, Helene and Wallace, Margaret R and Yap, Yoon-Sim and Zackai, Elaine and Zonana, Jonathan and Zurcher, Vickie and Claes, Kathleen and Martin, Yolanda and Korf, Bruce R and Legius, Eric and Messiaen, Ludwine M
The American Journal of Human Genetics, ISSN 0002-9297, 01/2018, Volume 102, Issue 1, pp. 69 - 87
Journal Article
BMC MEDICAL GENETICS, ISSN 1471-2350, 12/2014, Volume 15, Issue 1, pp. 128 - 128
Journal Article
No results were found for your search.

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