Your search returned 92 results.

Results
	1.	Tumor screening in Beckwith-Wiedemann syndrome-To screen or not to screen? [electronic resource] by Kalish, Jennifer M Deardorff, Matthew A Producer: 20171019 In: American journal of medical genetics. Part A vol. 170 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2.	Clinical features, diagnostic criteria, and management of Coffin-Siris syndrome. [electronic resource] by Vergano, Samantha S Deardorff, Matthew A Producer: 20150727 In: American journal of medical genetics. Part C, Seminars in medical genetics vol. 166C Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3.	Ganglioglioma in a Sotos syndrome patient with an NSD1 deletion. [electronic resource] by Deardorff, Matthew A Maisenbacher, Melissa Zackai, Elaine H Producer: 20050302 In: American journal of medical genetics. Part A vol. 130A Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4.	The utility of alpha-fetoprotein screening in Beckwith-Wiedemann syndrome. [electronic resource] by Duffy, Kelly A Deardorff, Matthew A Kalish, Jennifer M Producer: 20171019 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)
	5.	MESP1 Mutations in Patients with Congenital Heart Defects. [electronic resource] by Werner, Petra Latney, Brande Deardorff, Matthew A Goldmuntz, Elizabeth Producer: 20161219 In: Human mutation vol. 37 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	6.	Dr. Laird G. Jackson Festschrift. [electronic resource] by Noon, Sarah E Deardorff, Matthew A Krantz, Ian D Producer: 20180126 In: American journal of medical genetics. Part C, Seminars in medical genetics vol. 172 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	7.	Structural aspects of HDAC8 mechanism and dysfunction in Cornelia de Lange syndrome spectrum disorders. [electronic resource] by Deardorff, Matthew A Porter, Nicholas J Christianson, David W Producer: 20170710 In: Protein science : a publication of the Protein Society vol. 25 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	8.	Another tool in the genome-wide association study arsenal: population-based detection of somatic gene conversion. [electronic resource] by Deardorff, Matthew A Sainz, Jesus Grant, Struan F A Producer: 20110427 In: BMC medicine vol. 9 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	9.	Argininosuccinic Acid Lyase Deficiency Missed by Newborn Screen. [electronic resource] by Ganetzky, Rebecca D Bedoukian, Emma Deardorff, Matthew A Ficicioglu, Can Publication details: JIMD reports 2017 In: JIMD reports vol. 34 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	10.	Melorheostosis: segmental osteopoikilosis or a separate entity? [electronic resource] by Kadhim, Muayad Deardorff, Matthew A Dubbs, Holly Zackai, Elaine H Dormans, John P Producer: 20150529 In: Journal of pediatric orthopedics vol. 35 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	11.	Exome sequencing reveals a nonsense mutation in MMP13 as a new cause of autosomal recessive metaphyseal anadysplasia. [electronic resource] by Li, Dong Weber, David R Deardorff, Matthew A Hakonarson, Hakon Levine, Michael A Producer: 20150929 In: European journal of human genetics : EJHG vol. 23 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	12.	Detailed assessment of the ear in Cornelia de Lange syndrome: comparison with a control sample using the new dysmorphology guidelines. [electronic resource] by Hunter, Alasdair G W Collins, Julianne S Deardorff, Matthew A Krantz, Ian D Producer: 20091217 In: American journal of medical genetics. Part A vol. 149A Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	13.	The value of the metabolic autopsy in the pediatric hospital setting. [electronic resource] by Ernst, Linda M Sondheimer, Neal Deardorff, Matthew A Bennett, Michael J Pawel, Bruce R Producer: 20060726 In: The Journal of pediatrics vol. 148 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	14.	Investigation of autistic features among individuals with mild to moderate Cornelia de Lange syndrome. [electronic resource] by Nakanishi, Mariko Deardorff, Matthew A Clark, Dinah Levy, Susan E Krantz, Ian Pipan, Mary Producer: 20121105 In: American journal of medical genetics. Part A vol. 158A Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	15.	Response to: Toriello et al., "Update on the Toriello-Carey Syndrome." Further delineation of a young woman with deletion 1q42.12-q42.2. [electronic resource] by Garza-Flores, Alexandra Hawley, Pamela Picker, Jonathan Tannebring, Elizabeth Deardorff, Matthew A Lin, Angela E Publication details: American journal of medical genetics. Part A Jul 2017 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)
	16.	NIPBL expression levels in CdLS probands as a predictor of mutation type and phenotypic severity. [electronic resource] by Kaur, Maninder Mehta, Devanshi Noon, Sarah E Deardorff, Matthew A Zhang, Zhe Krantz, Ian D Producer: 20171003 In: American journal of medical genetics. Part C, Seminars in medical genetics vol. 172 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	17.	The incidence of thrombocytopenia in children with Cornelia de Lange syndrome. [electronic resource] by Lambert, Michele P Jackson, Laird G Clark, Dinah Kaur, Mani Krantz, Ian D Deardorff, Matthew A Producer: 20110517 In: American journal of medical genetics. Part A vol. 155A Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	18.	Neutral mitochondrial heteroplasmy and the influence of aging. [electronic resource] by Sondheimer, Neal Glatz, Catherine E Tirone, Jack E Deardorff, Matthew A Krieger, Abba M Hakonarson, Hakon Producer: 20110721 In: Human molecular genetics vol. 20 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	19.	Improving surveillance for hyperammonemia in the newborn. [electronic resource] by Vergano, Samantha A Crossette, Jonathan M Cusick, Frederick C Desai, Bimal R Deardorff, Matthew A Sondheimer, Neal Producer: 20140317 In: Molecular genetics and metabolism vol. 110 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	20.	Mosaic ratio quantification of isochromosome 12p in Pallister-Killian syndrome using droplet digital PCR. [electronic resource] by Fujiki, Katsunori Shirahige, Katsuhiko Kaur, Maninder Deardorff, Matthew A Conlin, Laura K Krantz, Ian D Izumi, Kosuke Producer: 20160601 In: Molecular genetics & genomic medicine vol. 4 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)

1
2
3
4
5
Next
Last

Refine your search

Availability

Authors

Topics

Languages

Your search returned 92 results.