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Reproductive Toxicology, ISSN 0890-6238, 09/2014, Volume 48, pp. 10 - 10
Journal Article
Nature, ISSN 0028-0836, 02/2012, Volume 482, Issue 7383, pp. 98 - 102
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 02/2012, Volume 90, Issue 2, pp. 308 - 313
Journal Article
by Rice, Gillian and Patrick, Teresa and Parmar, Rekha and Taylor, Claire F and Aeby, Alec and Aicardi, Jean and Artuch, Rafael and Montalto, Simon Attard and Bacino, Carlos A and Barroso, Bruno and Baxter, Peter and Benko, Willam S and Bergmann, Carsten and Bertini, Enrico and Biancheri, Roberta and Blair, Edward M and Blau, Nenad and Bonthron, David T and Briggs, Tracy and Brueton, Louise A and Brunner, Han G and Burke, Christopher J and Carr, Ian M and Carvalho, Daniel R and Chandler, Kate E and Christen, Hans-Jürgen and Corry, Peter C and Cowan, Frances M and Cox, Helen and D’Arrigo, Stefano and Dean, John and De Laet, Corinne and De Praeter, Claudine and Déry, Catherine and Ferrie, Colin D and Flintoff, Kim and Frints, Suzanna G.M and Garcia-Cazorla, Angels and Gener, Blanca and Goizet, Cyril and Goutières, Françoise and Green, Andrew J and Guët, Agnès and Hamel, Ben C.J and Hayward, Bruce E and Heiberg, Arvid and Hennekam, Raoul C and Husson, Marie and Jackson, Andrew P and Jayatunga, Rasieka and Jiang, Yong-Hui and Kant, Sarina G and Kao, Amy and King, Mary D and Kingston, Helen M and Klepper, Joerg and van der Knaap, Marjo S and Kornberg, Andrew J and Kotzot, Dieter and Kratzer, Wilfried and Lacombe, Didier and Lagae, Lieven and Landrieu, Pierre Georges and Lanzi, Giovanni and Leitch, Andrea and Lim, Ming J and Livingston, John H and Lourenco, Charles M and Lyall, E. G. Hermione and Lynch, Sally A and Lyons, Michael J and Marom, Daphna and McClure, John P and McWilliam, Robert and Melancon, Serge B and Mewasingh, Leena D and Moutard, Marie-Laure and Nischal, Ken K and Østergaard, John R and Prendiville, Julie and Rasmussen, Magnhild and Rogers, R. Curtis and Roland, Dominique and Rosser, Elisabeth M and Rostasy, Kevin and Roubertie, Agathe and Sanchis, Amparo and Schiffmann, Raphael and Scholl-Bürgi, Sabine and Seal, Sunita and Shalev, Stavit A and Corcoles, C. Sierra and Sinha, Gyan P and Soler, Doriette and Spiegel, Ronen and Stephenson, John B.P and Tacke, Uta and Tan, Tiong Yang and Till, Marianne and Tolmie, John L and ...
The American Journal of Human Genetics, ISSN 0002-9297, 2007, Volume 81, Issue 4, pp. 713 - 725
Journal Article
Cellular Immunology, ISSN 0008-8749, 01/2011, Volume 268, Issue 2, pp. 55 - 59
Tumor necrosis factor receptor-associated periodic syndrome (TRAPS) is an autosomal dominant autoinflammatory condition caused by mutations in the TNFRSF1A... 
Journal Article
Orphanet Journal of Rare Diseases, ISSN 1750-1172, 04/2013, Volume 8, Issue 1, pp. 63 - 63
Journal Article
Obstetrics, Gynaecology and Reproductive Medicine, ISSN 1751-7214, 2014, Volume 24, Issue 3, pp. 67 - 73
Abstract Since its introduction in 1990, preimplantation genetic diagnosis (PGD) has allowed embryo genetic analysis prior to transfer into the uterus during... 
Obstetrics and Gynecology | preimplantation genetic screening | in vitro fertilization | preimplantation genetic diagnosis | Invitro fertilization | Preimplantation genetic screening | Preimplantation genetic diagnosis
Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 2011, Volume 155, Issue 1, pp. 22 - 32
Journal Article
Journal Article
American Journal of Human Genetics, ISSN 0002-9297, 02/2012, Volume 90, Issue 2, p. 308
Floating-Harbor syndrome (FHS) is a rare condition characterized by short stature, delayed osseous maturation, expressive-language deficits, and a distinctive... 
Proteins | Genetic disorders | Genomics | Genetic research | Mutation | Binding sites
Journal Article
Human Mutation, ISSN 1059-7794, 09/2005, Volume 26, Issue 3, pp. 282 - 282
Townes‐Brocks syndrome is an autosomal dominantly inherited disorder, which comprises multiple birth defects including renal, ear, anal, and limb... 
SALL1 | Townes‐Brocks syndrome | Limb Deformities, Congenital - genetics | Humans | Family Health | Infant | Male | Transcription Factors - genetics | Syndrome | Amino Acid Motifs | Phenotype | Kidney - abnormalities | Female | Mutation | Child | Abnormalities, Multiple - genetics
Journal Article