Publications by authors named "Nancy Kramer"

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Mutations in TKT Are the Cause of a Syndrome Including Short Stature, Developmental Delay, and Congenital Heart Defects.
Lia Boyle, Mirjam M C Wamelink, Gajja S Salomons, Birthe Roos, Ana Pop, Nancy Kramer

Am J Hum Genet· June 2016

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Clinical management of patients with ASXL1 mutations and Bohring-Opitz syndrome, emphasizing the need for Wilms tumor surveillance.
Bianca Russell, Jennifer J Johnston, Leslie G Biesecker, Nancy Kramer, Angela Pickart

Am J Med Genet A· September 2015

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Inside the 8p23.1 duplication syndrome; eight microduplications of likely or uncertain clinical significance.
John C K Barber, Jill A Rosenfeld, John M Graham, Nancy Kramer, Katherine L Lachlan

Am J Med Genet A· September 2015

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19q13.32 microdeletion syndrome: three new cases.
Angela Castillo, Nancy Kramer, Charles E Schwartz, Judith H Miles, Barbara R DuPont

Eur J Med Genet· July 2015

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De novo exon 1 missense mutations of SKI and Shprintzen-Goldberg syndrome: two new cases and a clinical review.
P Y Billie Au, Hilary E Racher, John M Graham, Nancy Kramer, R Brian Lowry

Am J Med Genet A· March 2014

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A roundtable discussion: home healthcare-not a hospital in the home.
Mary K Logan, Chuck Parker, Daryle Gardner-Bonneau, Denny Treu, James Keller, Nancy Kramer

Biomed Instrum Technol· July 2013

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ZC4H2 mutations are associated with arthrogryposis multiplex congenita and intellectual disability through impairment of central and peripheral synaptic plasticity.
Hiromi Hirata, Indrajit Nanda, Anne van Riesen, Gai McMichael, Hao Hu, Nancy Kramer

Am J Hum Genet· May 2013

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De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes.
Jean-Baptiste Rivière, Ghayda M Mirzaa, Brian J O'Roak, Margaret Beddaoui, Diana Alcantara, Nancy A Kramer

Nat Genet· June 2012

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De novo microdeletion of Xp11.3 exclusively encompassing the monoamine oxidase A and B genes in a male infant with episodic hypotonia: a genomics approach to personalized medicine.
Ryan E O'Leary, Jean C Shih, Keith Hyland, Nancy Kramer, Y Jane Tavyev Asher

Eur J Med Genet· May 2012

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Megalencephaly-capillary malformation (MCAP) and megalencephaly-polydactyly-polymicrogyria-hydrocephalus (MPPH) syndromes: two closely related disorders of brain overgrowth and abnormal brain and body morphogenesis.
Ghayda M Mirzaa, Robert L Conway, Karen W Gripp, Tally Lerman-Sagie, Dawn H Siegel, Nancy Kramer

Am J Med Genet A· February 2012

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Distinctive phenotype in 9 patients with deletion of chromosome 1q24-q25.
Deepika D'Cunha Burkardt, Jill A Rosenfeld, Maria L Helgeson, Brad Angle, Valerie Banks, Nancy Kramer

Am J Med Genet A· June 2011

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Genomic duplication of PTPN11 is an uncommon cause of Noonan syndrome.
John M Graham, Nancy Kramer, Bassem A Bejjani, Christian T Thiel, Claudio Carta

Am J Med Genet A· October 2009

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Capturing the curriculum: a curriculum maturation and transformation process.
Nancy Ann Kramer

Nurse Educ· May 2005

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