Publications by authors named "Mark J Stephan"

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Cohesin complex-associated holoprosencephaly.
Paul Kruszka, Seth I Berger, Valentina Casa, Mike R Dekker, Jenna Gaesser, Mark J Stephan

Brain· September 2019

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Mutations in LAMA1 cause cerebellar dysplasia and cysts with and without retinal dystrophy.
Kimberly A Aldinger, Stephen J Mosca, Martine Tétreault, Jennifer C Dempsey, Gisele E Ishak, Mark J Stephan

Am J Hum Genet· August 2014

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Heterogeneous pulmonary phenotypes associated with mutations in the thyroid transcription factor gene NKX2-1.
Aaron Hamvas, Robin R Deterding, Susan E Wert, Frances V White, Megan K Dishop, Mark J Stephan

Chest· September 2013

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Whole-genome analysis reveals that mutations in inositol polyphosphate phosphatase-like 1 cause opsismodysplasia.
Jennifer E Below, Dawn L Earl, Kathryn M Shively, Margaret J McMillin, Joshua D Smith, Mark J Stephan

Am J Hum Genet· January 2013

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Enchondroma of the skull base secondary to generalized enchondromatosis: a case report and review of the literature.
Derek J Rogers, Mark E Boseley, Mark J Stephan, Samuel Browd, David C Semerad

Ear Nose Throat J· November 2011

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Molecular analysis expands the spectrum of phenotypes associated with GLI3 mutations.
Jennifer J Johnston, Julie C Sapp, Joyce T Turner, David Amor, Salim Aftimos, Mark J Stephan

Hum Mutat· October 2010

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Selective IgM deficiency and 22q11.2 deletion syndrome.
Shiang-Ju Kung, Karen W Gripp, Mark J Stephan, Mary P Fairchok, Stephen J McGeady

Ann Allergy Asthma Immunol· July 2007

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Cerebellar ataxia with progressive improvement.
Jack W Tsao, Jason Neal, Kira Apse, Mark J Stephan, William B Dobyns

Arch Neurol· April 2006

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A tribute to our teacher, Dr. Judith Hall: a child with the trait of the Earl of Shrewsbury.
Mark J Stephan

Am J Med Genet A· January 2006

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Endovascular treatment of spinal arteriovenous fistula in a young child with hereditary hemorrhagic telangiectasia. Case report.
Mark J Stephan, Gary M Nesbit, Melinda L Behrens, Malcolm A Whitaker, Stanley L Barnwell

J Neurosurg· November 2005

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