Publications by authors named "Rick A Martin"

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The importance of mentors in a 20-year gestation.
Rick A Martin

Am J Med Genet A· November 2010

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Four-year prospective clinical trial of agalsidase alfa in children with Fabry disease.
Raphael Schiffmann, Rick A Martin, Tyler Reimschisel, Karen Johnson, Victoria Castaneda

J Pediatr· May 2010

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Whorl patterns on the lower lip are associated with nonsyndromic cleft lip with or without cleft palate.
Katherine Neiswanger, K Walker, Cherise M Klotz, Margaret E Cooper, Kathleen M Bardi, Rick A Martin

Am J Med Genet A· December 2009

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Diagnostic criteria and tumor screening for individuals with isolated hemihyperplasia.
Carol L Clericuzio, Rick A Martin

Genet Med· March 2009

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AXIS inhibition protein 2, orofacial clefts and a family history of cancer.
Renato Menezes, Mary Louise Marazita, Toby Goldstein McHenry, Margaret E Cooper, Kathleen Bardi, Rick A Martin

J Am Dent Assoc· January 2009

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Development and validation of a measure of dysmorphology: useful for autism subgroup classification.
Judith H Miles, T Nicole Takahashi, Julie Hong, Nicole Munden, Nancy Flournoy, Rick A Martin

Am J Med Genet A· May 2008

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Orbicularis oris muscle defects as an expanded phenotypic feature in nonsyndromic cleft lip with or without cleft palate.
Katherine Neiswanger, Seth M Weinberg, Carolyn R Rogers, Carla A Brandon, Margaret E Cooper, Rick A Martin

Am J Med Genet A· June 2007

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Increased MECP2 gene copy number as the result of genomic duplication in neurodevelopmentally delayed males.
Daniela del Gaudio, Ping Fang, Fernando Scaglia, Patricia A Ward, William J Craigen, Rick A Martin

Genet Med· December 2006

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Anthropometric precision and accuracy of digital three-dimensional photogrammetry: comparing the Genex and 3dMD imaging systems with one another and with direct anthropometry.
Seth M Weinberg, Sybill Naidoo, Daniel P Govier, Rick A Martin, Alex A Kane

J Craniofac Surg· May 2006

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The Pittsburgh Oral-Facial Cleft study: expanding the cleft phenotype. Background and justification.
Seth M Weinberg, Katherine Neiswanger, Rick A Martin, Mark P Mooney, Alex A Kane

Cleft Palate Craniofac J· January 2006

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A deletion of proximal 20p inherited from a normal mosaic carrier mother in a newborn with panhypopituitarism and craniofacial dysmorphism.
Jaime Garcia-Heras, Ramzi A Kilani, Rick A Martin, Stephen Lamp

Clin Dysmorphol· July 2005

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LIT1 and H19 methylation defects in isolated hemihyperplasia.
Rick A Martin, Dorothy K Grange, Babara Zehnbauer, Michael R Debaun

Am J Med Genet A· April 2005

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Amino acid clearance during acute metabolic decompensation in maple syrup urine disease treated with continuous venovenous hemodialysis with filtration.
Stanley Paul Hmiel, Rick A Martin, Michael Landt, Fiona H Levy, Dorothy K Grange

Pediatr Crit Care Med· May 2004

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47,XXX associated with malformations.
Carrie E Haverty, Angela E Lin, Ellen Simpson, M Anne Spence, Rick A Martin

Am J Med Genet A· February 2004

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Sialic acid storage disease of the Salla phenotype in American monozygous twin female sibs.
Rick A Martin, Rachel Slaugh, Marvin Natowicz, Kayla Pearlman, Eduard Orvisky

Am J Med Genet A· July 2003

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