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	1.	Meier-Gorlin syndrome and Wolf-Hirschhorn syndrome: two developmental disorders highlighting the importance of efficient DNA replication for normal development and neurogenesis. [electronic resource] by Kerzendorfer, Claudia Colnaghi, Rita Abramowicz, Iga Carpenter, Gillian O'Driscoll, Mark Producer: 20131224 In: DNA repair vol. 12 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2.	Characterizing the functional consequences of haploinsufficiency of NELF-A (WHSC2) and SLBP identifies novel cellular phenotypes in Wolf-Hirschhorn syndrome. [electronic resource] by Kerzendorfer, Claudia Hannes, Femke Colnaghi, Rita Abramowicz, Iga Carpenter, Gillian Vermeesch, Joris Robert O'Driscoll, Mark Producer: 20120913 In: Human molecular genetics vol. 21 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3.	Oral-facial-digital syndrome type I cells exhibit impaired DNA repair; unanticipated consequences of defective OFD1 outside of the cilia network. [electronic resource] by Abramowicz, Iga Carpenter, Gillian Alfieri, Mariaevelina Colnaghi, Rita Outwin, Emily Parent, Philippe Thauvin-Robinet, Christel Iaconis, Daniela Franco, Brunella O'Driscoll, Mark Producer: 20170926 In: Human molecular genetics vol. 26 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4.	Mutations in CENPE define a novel kinetochore-centromeric mechanism for microcephalic primordial dwarfism. [electronic resource] by Mirzaa, Ghayda M Vitre, Benjamin Carpenter, Gillian Abramowicz, Iga Gleeson, Joseph G Paciorkowski, Alex R Cleveland, Don W Dobyns, William B O'Driscoll, Mark Producer: 20140902 In: Human genetics vol. 133 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5.	Identifying candidate genes for 2p15p16.1 microdeletion syndrome using clinical, genomic, and functional analysis. [electronic resource] by Bagheri, Hani Badduke, Chansonette Qiao, Ying Colnaghi, Rita Abramowicz, Iga Alcantara, Diana Dunham, Christopher Wen, Jiadi Wildin, Robert S Nowaczyk, Malgorzata Jm Eichmeyer, Jennifer Lehman, Anna Maranda, Bruno Martell, Sally Shan, Xianghong Lewis, Suzanne Me O'Driscoll, Mark Gregory-Evans, Cheryl Y Rajcan-Separovic, Evica Producer: 20180912 In: JCI insight vol. 1 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	6.	Defective DNA Polymerase α-Primase Leads to X-Linked Intellectual Disability Associated with Severe Growth Retardation, Microcephaly, and Hypogonadism. [electronic resource] by Van Esch, Hilde Colnaghi, Rita Freson, Kathleen Starokadomskyy, Petro Zankl, Andreas Backx, Liesbeth Abramowicz, Iga Outwin, Emily Rohena, Luis Faulkner, Claire Leong, Gary M Newbury-Ecob, Ruth A Challis, Rachel C Õunap, Katrin Jaeken, Jacques Seuntjens, Eve Devriendt, Koen Burstein, Ezra Low, Karen J O'Driscoll, Mark Producer: 20200206 In: American journal of human genetics vol. 104 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)