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	21.	PhenoDB: a new web-based tool for the collection, storage, and analysis of phenotypic features. [electronic resource] by Hamosh, Ada Sobreira, Nara Hoover-Fong, Julie Sutton, V Reid Boehm, Corinne Schiettecatte, François Valle, David Producer: 20130906 In: Human mutation vol. 34 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	22.	American College of Medical Genetics recommendations for the design and performance expectations for clinical genomic copy number microarrays intended for use in the postnatal setting for detection of constitutional abnormalities. [electronic resource] by Kearney, Hutton M South, Sarah T Wolff, Daynna J Lamb, Allen Hamosh, Ada Rao, Kathleen W Producer: 20111213 In: Genetics in medicine : official journal of the American College of Medical Genetics vol. 13 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	23.	Survival after treatment with phenylacetate and benzoate for urea-cycle disorders. [electronic resource] by Enns, Gregory M Berry, Susan A Berry, Gerard T Rhead, William J Brusilow, Saul W Hamosh, Ada Producer: 20070605 In: The New England journal of medicine vol. 356 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	24.	The management of pregnancy and delivery in 3-hydroxy-3-methylglutaryl-CoA lyase deficiency. [electronic resource] by Pipitone, Angela Raval, Donna B Duis, Jessica Vernon, Hilary Martin, Regina Hamosh, Ada Valle, David Gunay-Aygun, Meral Producer: 20171024 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)
	25.	Mosaic trisomy 13: understanding origin using SNP array. [electronic resource] by Jinawath, Natini Zambrano, Regina Wohler, Elizabeth Palmquist, Maria K Hoover-Fong, Julie Hamosh, Ada Batista, Denise A S Producer: 20110826 In: Journal of medical genetics vol. 48 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	26.	Walking the interactome for candidate prioritization in exome sequencing studies of Mendelian diseases. [electronic resource] by Smedley, Damian Köhler, Sebastian Czeschik, Johanna Christina Amberger, Joanna Bocchini, Carol Hamosh, Ada Veldboer, Julian Zemojtel, Tomasz Robinson, Peter N Producer: 20150109 In: Bioinformatics (Oxford, England) vol. 30 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	27.	Assessment of incidental findings in 232 whole-exome sequences from the Baylor-Hopkins Center for Mendelian Genomics. [electronic resource] by Jurgens, Julie Ling, Hua Hetrick, Kurt Pugh, Elizabeth Schiettecatte, Francois Doheny, Kimberly Hamosh, Ada Avramopoulos, Dimitri Valle, David Sobreira, Nara Producer: 20160413 In: Genetics in medicine : official journal of the American College of Medical Genetics vol. 17 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	28.	Gastric function in children with cystic fibrosis: effect of diet on gastric lipase levels and fat digestion. [electronic resource] by Armand, Martine Hamosh, Margit Philpott, Jessica R Resnik, Amy Kovar Rosenstein, Beryl J Hamosh, Ada Perman, Jay A Hamosh, Paul Producer: 20040928 In: Pediatric research vol. 55 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	29.	3q29 interstitial microduplication: a new syndrome in a three-generation family. [electronic resource] by Lisi, Emily C Hamosh, Ada Doheny, Kimberly F Squibb, Elizabeth Jackson, Barbara Galczynski, Rebecca Thomas, George H Batista, Denise A S Producer: 20080507 In: American journal of medical genetics. Part A vol. 146A Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	30.	A diversified approach for PKU treatment: routine screening yields high incidence of psychiatric distress in phenylketonuria clinics. [electronic resource] by Burton, Barbara K Leviton, Lauren Vespa, Hazel Coon, Hilary Longo, Nicola Lundy, Bridget D Johnson, Maria Angelino, Andrew Hamosh, Ada Bilder, Deborah Producer: 20130605 In: Molecular genetics and metabolism vol. 108 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	31.	Association of human aging with a functional variant of klotho. [electronic resource] by Arking, Dan E Krebsova, Alice Macek, Milan Macek, Milan Arking, Albert Mian, I Saira Fried, Linda Hamosh, Ada Dey, Srabani McIntosh, Iain Dietz, Harry C Producer: 20020429 In: Proceedings of the National Academy of Sciences of the United States of America vol. 99 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	32.	"Matching" consent to purpose: The example of the Matchmaker Exchange. [electronic resource] by Dyke, Stephanie O M Knoppers, Bartha M Hamosh, Ada Firth, Helen V Hurles, Matthew Brudno, Michael Boycott, Kym M Philippakis, Anthony A Rehm, Heidi L Producer: 20180510 In: Human mutation vol. 38 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	33.	Characterization of complex chromosomal rearrangements by targeted capture and next-generation sequencing. [electronic resource] by Sobreira, Nara L M Gnanakkan, Veena Walsh, Michael Marosy, Beth Wohler, Elizabeth Thomas, George Hoover-Fong, Julie E Hamosh, Ada Wheelan, Sarah J Valle, David Producer: 20120123 In: Genome research vol. 21 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	34.	Genomic analysis of partial 21q monosomies with variable phenotypes. [electronic resource] by Roberson, Elisha D O Wohler, Elizabeth Squibb Hoover-Fong, Julie E Lisi, Emily Stevens, Eric L Thomas, George H Leonard, Jay Hamosh, Ada Pevsner, Jonathan Producer: 20110504 In: European journal of human genetics : EJHG vol. 19 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	35.	Amplitude-integrated electroencephalography in newborns with inborn errors of metabolism. [electronic resource] by Olischar, Monika Shany, Eilon Aygün, Canan Azzopardi, Denis Hunt, Rod W Toet, Mona C Hamosh, Ada de Vries, Linda S Hellström-Westas, Lena Theda, Christiane Producer: 20130225 In: Neonatology vol. 102 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	36.	Genotype-phenotype correlation of congenital anomalies in multiple congenital anomalies hypotonia seizures syndrome (MCAHS1)/PIGN-related epilepsy. [electronic resource] by Fleming, Leah Lemmon, Monica Beck, Natalie Johnson, Maria Mu, Weiyi Murdock, David Bodurtha, Joann Hoover-Fong, Julie Cohn, Ronald Bosemani, Thangamadhan Barañano, Kristin Hamosh, Ada Producer: 20161013 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)
	37.	Professional responsibilities regarding the provision, publication, and dissemination of patient phenotypes in the context of clinical genetic and genomic testing: points to consider-a statement of the American College of Medical Genetics and Genomics (ACMG). [electronic resource] by Bush, Lynn W Beck, Anita E Biesecker, Leslie G Evans, James P Hamosh, Ada Holm, Ingrid A Martin, Christa L Richards, C Sue Rehm, Heidi L Producer: 20180926 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)
	38.	Citrin deficiency, a perplexing global disorder. [electronic resource] by Dimmock, David Maranda, Bruno Dionisi-Vici, Carlo Wang, Jing Kleppe, Soledad Fiermonte, Giuseppe Bai, Renkui Hainline, Bryan Hamosh, Ada O'Brien, William E Scaglia, Fernando Wong, Lee-Jun Producer: 20090121 In: Molecular genetics and metabolism vol. 96 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	39.	The utility of exome sequencing for fetal pleural effusions. [electronic resource] by Jelin, Angie C Sobreira, Nara Wohler, Elizabeth Solomon, Benjamin Sparks, Teresa Sagaser, Katelynn G Forster, Katherine R Miller, Jena Witmer, P Dane Hamosh, Ada Valle, David Blakemore, Karin Producer: 20210611 In: Prenatal diagnosis vol. 40 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	40.	KIF5A mutations cause an infantile onset phenotype including severe myoclonus with evidence of mitochondrial dysfunction. [electronic resource] by Duis, Jessica Dean, Shannon Applegate, Carolyn Harper, Amy Xiao, Rui He, Weimin Dollar, James D Sun, Lisa R Waberski, Marta Biderman Crawford, Thomas O Hamosh, Ada Stafstrom, Carl E Producer: 20170605 In: Annals of neurology vol. 80 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 65 results.