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	1.	A second family with dominantly inherited isolated cleft palate. [electronic resource] by Powis, Zöe Erickson, Robert P Producer: 20110204 In: The Journal of craniofacial surgery vol. 21 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2.	Identification of a syndrome comprising microcephaly and intellectual disability but not white matter disease associated with a homozygous c.676C>T p.R226W DEAF1 mutation. [electronic resource] by Gund, Christian Powis, Zöe Alcaraz, Wendy Desai, Sonal Baranano, Kristin Producer: 20170104 In: American journal of medical genetics. Part A vol. 170A Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3.	Diagnostic exome sequencing for patients with a family history of consanguinity: over 38% of positive results are not autosomal recessive pattern. [electronic resource] by Powis, Zöe Farwell, Kelly D Alamillo, Christina L Tang, Sha Producer: 20170206 In: Journal of human genetics vol. 61 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4.	Clinical diagnostic exome evaluation for an infant with a lethal disorder: genetic diagnosis of TARP syndrome and expansion of the phenotype in a patient with a newly reported RBM10 alteration. [electronic resource] by Powis, Zöe Hart, Alexa Cherny, Sara Petrik, Igor Palmaer, Erika Tang, Sha Jones, Carolyn Producer: 20170803 In: BMC medical genetics vol. 18 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5.	Postmortem Diagnostic Exome Sequencing Identifies a De Novo TUBB3 Alteration in a Newborn With Prenatally Diagnosed Hydrocephalus and Suspected Walker-Warburg Syndrome. [electronic resource] by Powis, Zöe Chamberlin, Adam C Alamillo, Christina L Ceulemans, Sophia Bird, Lynne M Tang, Sha Producer: 20190529 In: Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society vol. 21 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	6.	Outcomes of Diagnostic Exome Sequencing in Patients With Diagnosed or Suspected Autism Spectrum Disorders. [electronic resource] by Rossi, Mari El-Khechen, Dima Black, Mary Helen Farwell Hagman, Kelly D Tang, Sha Powis, Zöe Producer: 20180227 In: Pediatric neurology vol. 70 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	7.	Clinical whole-exome sequencing results impact medical management. [electronic resource] by Niguidula, Nancy Alamillo, Christina Shahmirzadi Mowlavi, Layla Powis, Zöe Cohen, Julie S Farwell Hagman, Kelly D Producer: 20190123 In: Molecular genetics & genomic medicine vol. 6 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	8.	Diagnostic exome sequencing identifies [electronic resource] by Sajan, Samin A Powis, Zöe Helbig, Katherine L Nagakura, Honey Immken, Ladonna Tang, Sha Alcaraz, Wendy A Publication details: Clinical case reports Jul 2018 In: Clinical case reports vol. 6 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	9.	Biallelic disruption of [electronic resource] by Sajan, Samin A Ganesh, Jaya Shinde, Deepali N Powis, Zöe Scarano, Maria I Stone, Jennifer Winter, Susan Tang, Sha Producer: 20200629 In: Journal of medical genetics vol. 56 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	10.	Diagnostic exome sequencing provides a molecular diagnosis for a significant proportion of patients with epilepsy. [electronic resource] by Helbig, Katherine L Farwell Hagman, Kelly D Shinde, Deepali N Mroske, Cameron Powis, Zöe Li, Shuwei Tang, Sha Helbig, Ingo Producer: 20171211 In: Genetics in medicine : official journal of the American College of Medical Genetics vol. 18 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	11.	Germline activating MTOR mutation arising through gonadal mosaicism in two brothers with megalencephaly and neurodevelopmental abnormalities. [electronic resource] by Mroske, Cameron Rasmussen, Kristen Shinde, Deepali N Huether, Robert Powis, Zoe Lu, Hsiao-Mei Baxter, Ruth M McPherson, Elizabeth Tang, Sha Producer: 20160425 In: BMC medical genetics vol. 16 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	12.	Mosaic tetrasomy 12p with triplication of 12p detected by array-based comparative genomic hybridization of peripheral blood DNA. [electronic resource] by Powis, Zöe Kang, Sung-Hae L Cooper, M Lance Patel, Ankita Peiffer, Daniel A Hawkins, Anne Heidenreich, Randall Gunderson, Kevin L Cheung, Sau W Erickson, Robert P Producer: 20080102 In: American journal of medical genetics. Part A vol. 143A Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	13.	Clinical germline diagnostic exome sequencing for hereditary cancer: Findings within novel candidate genes are prevalent. [electronic resource] by Powis, Zöe Espenschied, Carin R LaDuca, Holly Hagman, Kelly D Paudyal, Tripti Li, Shuwei Inaba, Hiroto Mauer, Ann Nathanson, Katherine L Knost, James Chao, Elizabeth C Tang, Sha Producer: 20181228 In: Cancer genetics vol. 224-225 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	14.	Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications. [electronic resource] by Smith, Erica D Radtke, Kelly Rossi, Mari Shinde, Deepali N Darabi, Sourat El-Khechen, Dima Powis, Zöe Helbig, Katherine Waller, Kendra Grange, Dorothy K Tang, Sha Farwell Hagman, Kelly D 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)
	15.	Sibling concordance for clinical features of Duchenne and Becker muscular dystrophies. [electronic resource] by Pettygrove, Sydney Lu, Zhenqiang Andrews, Jennifer G Meaney, F John Sheehan, Daniel W Price, Elinora T Fox, Deborah J Pandya, Shree Ouyang, Lijing Apkon, Susan D Powis, Zoe Cunniff, Christopher Producer: 20140708 In: Muscle & nerve vol. 49 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	16.	Exome sequencing positively identified relevant alterations in more than half of cases with an indication of prenatal ultrasound anomalies. [electronic resource] by Alamillo, Christina L Powis, Zöe Farwell, Kelly Shahmirzadi, Layla Weltmer, Elaine C Turocy, John Lowe, Thomas Kobelka, Christine Chen, Emily Basel, Donald Ashkinadze, Elena D'Augelli, Lisa Chao, Elizabeth Tang, Sha Producer: 20160808 In: Prenatal diagnosis vol. 35 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	17.	The role of IQSEC2 in syndromic intellectual disability: Narrowing the diagnostic odyssey. [electronic resource] by Helm, Benjamin M Powis, Zoe Prada, Carlos E Casasbuenas-Alarcon, Olga L Balmakund, Tonya Schaefer, G B Kahler, Stephen G Kaylor, Julie Winter, Susan Zarate, Yuri A Schrier Vergano, Samantha A 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)
	18.	Exome sequencing in neonates: diagnostic rates, characteristics, and time to diagnosis. [electronic resource] by Powis, Zöe Farwell Hagman, Kelly D Speare, Virginia Cain, Taylor Blanco, Kirsten Mowlavi, Layla S Mayerhofer, Emily M Tilstra, David Vedder, Timothy Hunter, Jesse M Tsang, Marilyn Gonzalez, Lina Vockley, Gerald Tang, Sha Producer: 20190213 In: Genetics in medicine : official journal of the American College of Medical Genetics vol. 20 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	19.	When moments matter: Finding answers with rapid exome sequencing. [electronic resource] by Powis, Zöe Farwell Hagman, Kelly D Blanco, Kirsten Au, Margaret Graham, John M Singh, Kathryn Gallant, Natalie Randolph, Linda M Towne, Meghan Hunter, Jesse Shinde, Deepali N Palmaer, Erika Schoenfeld, Brian Tang, Sha Producer: 20210326 In: Molecular genetics & genomic medicine vol. 8 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	20.	Biallelic Mutations in FUT8 Cause a Congenital Disorder of Glycosylation with Defective Fucosylation. [electronic resource] by Ng, Bobby G Xu, Gege Chandy, Nandini Steyermark, Joan Shinde, Deepali N Radtke, Kelly Raymond, Kimiyo Lebrilla, Carlito B AlAsmari, Ali Suchy, Sharon F Powis, Zöe Faqeih, Eissa Ali Berry, Susan A Kronn, David F Freeze, Hudson H Producer: 20181211 In: American journal of human genetics vol. 102 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)

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Your search returned 40 results.