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	1.	Extrapolation of Variant Phase in Mitochondrial Short-Chain Enoyl-CoA Hydratase (ECHS1) Deficiency. [electronic resource] by Carlston, Colleen M Ferdinandusse, Sacha Hobert, Judith A Mao, Rong Longo, Nicola Publication details: JIMD reports 2019 In: JIMD reports vol. 43 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2.	Expanding the genetic and clinical spectrum of the NONO-associated X-linked intellectual disability syndrome. [electronic resource] by Carlston, Colleen M Bleyl, Steven B Andrews, Ashley Meyers, Lindsay Brown, Sara Bayrak-Toydemir, Pinar Bale, James F Botto, Lorenzo D Producer: 20200421 In: American journal of medical genetics. Part A vol. 179 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3.	Variable expressivity and incomplete penetrance in a large family with non-classical Diamond-Blackfan anemia associated with ribosomal protein L11 splicing variant. [electronic resource] by Carlston, Colleen M Afify, Zeinab A Palumbos, Janice C Bagley, Heidi Barbagelata, Carlos Wooderchak-Donahue, Whitney L Mao, Rong Carey, John C Producer: 20180207 In: American journal of medical genetics. Part A vol. 173 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4.	Diagnostic gene sequencing panels: from design to report-a technical standard of the American College of Medical Genetics and Genomics (ACMG). [electronic resource] by Bean, Lora J H Funke, Birgit Carlston, Colleen M Gannon, Jennifer L Kantarci, Sibel Krock, Bryan L Zhang, Shulin Bayrak-Toydemir, Pinar Producer: 20210203 In: Genetics in medicine : official journal of the American College of Medical Genetics vol. 22 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5.	Pathogenic ASXL1 somatic variants in reference databases complicate germline variant interpretation for Bohring-Opitz Syndrome. [electronic resource] by Carlston, Colleen M O'Donnell-Luria, Anne H Underhill, Hunter R Cummings, Beryl B Weisburd, Ben Minikel, Eric V Birnbaum, Daniel P Tvrdik, Tatiana MacArthur, Daniel G Mao, Rong Producer: 20170629 In: Human mutation vol. 38 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	6.	Three novel GJB2 (connexin 26) variants associated with autosomal dominant syndromic and nonsyndromic hearing loss. [electronic resource] by DeMille, Desiree Carlston, Colleen M Tam, Oliver H Palumbos, Janice C Stalker, Heather J Mao, Rong Zori, Roberto T Viskochil, David H Park, Albert H Carey, John C Producer: 20190228 In: American journal of medical genetics. Part A vol. 176 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	7.	The spectrum of DNMT3A variants in Tatton-Brown-Rahman syndrome overlaps with that in hematologic malignancies. [electronic resource] by Shen, Wei Heeley, Jennifer M Carlston, Colleen M Acuna-Hidalgo, Rocio Nillesen, Willy M Dent, Karin M Douglas, Ganka V Levine, Kara L Bayrak-Toydemir, Pinar Marcelis, Carlo L Shinawi, Marwan Carey, John C Producer: 20180605 In: American journal of medical genetics. Part A vol. 173 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	8.	Delayed environmental enrichment reverses sevoflurane-induced memory impairment in rats. [electronic resource] by Shih, Jennifer May, Laura D V Gonzalez, Heidi E Lee, Elaine W Alvi, Rehan S Sall, Jeffrey W Rau, Vinuta Bickler, Philip E Lalchandani, Gopal R Yusupova, Marianna Woodward, Elliott Kang, Heejae Wilk, Alan J Carlston, Colleen M Mendoza, Mortay V Guggenheim, Jeremy N Schaefer, Maximilian Rowe, Allison M Stratmann, Greg Producer: 20120410 In: Anesthesiology vol. 116 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	9.	Bi-allelic Variants in TONSL Cause SPONASTRIME Dysplasia and a Spectrum of Skeletal Dysplasia Phenotypes. [electronic resource] by Burrage, Lindsay C Reynolds, John J Baratang, Nissan Vida Phillips, Jennifer B Wegner, Jeremy McFarquhar, Ashley Higgs, Martin R Christiansen, Audrey E Lanza, Denise G Seavitt, John R Jain, Mahim Li, Xiaohui Parry, David A Raman, Vandana Chitayat, David Chinn, Ivan K Bertuch, Alison A Karaviti, Lefkothea Schlesinger, Alan E Earl, Dawn Bamshad, Michael Savarirayan, Ravi Doddapaneni, Harsha Muzny, Donna Jhangiani, Shalini N Eng, Christine M Gibbs, Richard A Bi, Weimin Emrick, Lisa Rosenfeld, Jill A Postlethwait, John Westerfield, Monte Dickinson, Mary E Beaudet, Arthur L Ranza, Emmanuelle Huber, Celine Cormier-Daire, Valérie Shen, Wei Mao, Rong Heaney, Jason D Orange, Jordan S Bertola, Débora Yamamoto, Guilherme L Baratela, Wagner A R Butler, Merlin G Ali, Asim Adeli, Mehdi Cohn, Daniel H Krakow, Deborah Jackson, Andrew P Lees, Melissa Offiah, Amaka C Carlston, Colleen M Carey, John C Stewart, Grant S Bacino, Carlos A Campeau, Philippe M Lee, Brendan Producer: 20191218 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)