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The American Journal of Human Genetics, ISSN 0002-9297, 02/2012, Volume 90, Issue 2, pp. 308 - 313
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
BONE, ISSN 8756-3282, 04/2019, Volume 121, pp. 163 - 171
Heterozygous pathogenic variants in the FN1 gene, encoding fibronectin (FN), have recently been shown to be associated with a skeletal disorder in some... 
MATRIX | GLOMERULOPATHY | OSTEOBLAST DIFFERENTIATION | PROTEIN | RESORPTION | FN1 | Skeletal dysplasia | Fibronectin | Coxa vara | Corner-fracture | ENDOCRINOLOGY & METABOLISM | Mutation | BONE | Fibronectins | Dysplasia | Cysteine | Genetic aspects
Journal Article
Molecular syndromology, ISSN 1661-8769, 02/2019, Volume 10, Issue 1-2, pp. 40 - 47
Craniofrontonasal syndrome (CFNS) is an X-linked disorder caused by mutations in which females are more severely affected than males. Severe male phenotypes... 
Journal Article
Journal Article
BMC Research Notes, ISSN 1756-0500, 2012, Volume 5, Issue 1, pp. 13 - 13
Williams-Beuren syndrome (WBS; OMIM 194050) is caused by a hemizygous contiguous gene microdeletion at 7q11.23. Supravalvular aortic stenosis (SVAS), mental... 
Usage | Genes | Physiological aspects | Genetic aspects | Research | Diagnosis | In situ hybridization | Williams syndrome | Genetic counseling | Statistical analysis | Social interaction | Genetics | Software | Life sciences | Mental retardation | Manuscripts | Ambulatory care
Journal Article
Molecular Syndromology, ISSN 1661-8769, 02/2019, Volume 10, Issue 1-2, pp. 40 - 47
Craniofrontonasal syndrome (CFNS) is an X-linked disorder caused by EFNB1 mutations in which females are more severely affected than males. Severe male... 
Regulatory variant | Genetic counseling | Upstream ORF and ATG | Protein translation | Molecular diagnosis and testing | SEQUENCES | TRANSLATION | GENETIC-ASPECTS | REGION | OPEN READING FRAMES | ALIGNMENT | GENETICS & HEREDITY | PATIENT | MUTATIONS | EXPRESSION | MOSAICISM | Original
Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 04/2017, Volume 173, Issue 4, pp. 938 - 945
Journal Article