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American Journal of Medical Genetics Part C: Seminars in Medical Genetics, ISSN 1552-4868, 11/2013, Volume 163, Issue 4, pp. 295 - 305
Journal Article
Wiley Interdisciplinary Reviews: Developmental Biology, ISSN 1759-7684, 05/2013, Volume 2, Issue 3, pp. 369 - 377
Journal Article
Genome Biology, ISSN 1474-7596, 11/2016, Volume 17, Issue 1, p. 243
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
Journal of Paediatrics and Child Health, ISSN 1034-4810, 11/2019, Volume 55, Issue 11, pp. 1309 - 1314
Aim To investigate the diagnostic and service impact of chromosomal microarray and whole exome sequencing (WES) in a neonatal intensive care unit (NICU).... 
exome sequencing | microarray | diagnostic yield | neonatal intensive care unit
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 03/2016, Volume 98, Issue 3, pp. 579 - 587
Journal Article
Pediatric Blood & Cancer, ISSN 1545-5009, 04/2016, Volume 63, Issue 4, pp. 706 - 708
Journal Article
Journal Article
Molecular Syndromology, ISSN 1661-8769, 11/2016, Volume 7, Issue 6, pp. 322 - 328
Pierre Robin Sequence (PRS) is usually classified into syndromic and nonsyndromic groups, with a further subclassification of the nonsyndromic group into... 
Original Article | Noncoding DNA | Birth defects | Craniofacial anomalies | Dysmorphology | SOX9 | Phenotyping | Original
Journal Article