Search Results - "Johal, Sheila C."

Prenatal Diagnosis of Colobomatous Microphthalmos by Dar, Suhail A, Johal, Sheila C, Marino, Meghan J, Singh, Arun D

“…Optic nerve coloboma and microphthalmos with colobomatous cyst are rare congenital anomalies that are difficult to detect on prenatal ultrasonography and…”
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Mutation spectrum in the large GTPase dynamin 2, and genotype-phenotype correlation in autosomal dominant centronuclear myopathy by Böhm, Johann, Biancalana, Valérie, DeChene, Elizabeth T., Bitoun, Marc, Pierson, Christopher R., Schaefer, Elise, Karasoy, Hatice, Dempsey, Melissa A., Klein, Fabrice, Dondaine, Nicolas, Kretz, Christine, Haumesser, Nicolas, Poirson, Claire, Toussaint, Anne, Greenleaf, Rebecca S., Barger, Melissa A., Mahoney, Lane J., Kang, Peter B., Zanoteli, Edmar, Vissing, John, Witting, Nanna, Echaniz-Laguna, Andoni, Wallgren-Pettersson, Carina, Dowling, James, Merlini, Luciano, Oldfors, Anders, Bomme Ousager, Lilian, Melki, Judith, Krause, Amanda, Jern, Christina, Oliveira, Acary S. B., Petit, Florence, Jacquette, Aurélia, Chaussenot, Annabelle, Mowat, David, Leheup, Bruno, Cristofano, Michele, Poza Aldea, Juan José, Michel, Fabrice, Furby, Alain, Llona, Jose E. Barcena, Van Coster, Rudy, Bertini, Enrico, Urtizberea, Jon Andoni, Drouin-Garraud, Valérie, Béroud, Christophe, Prudhon, Bernard, Bedford, Melanie, Mathews, Katherine, Erby, Lori A. H., Smith, Stephen A., Roggenbuck, Jennifer, Crowe, Carol A., Brennan Spitale, Allison, Johal, Sheila C., Amato, Anthony A., Demmer, Laurie A., Jonas, Jessica, Darras, Basil T., Bird, Thomas D., Laurino, Mercy, Welt, Selman I., Trotter, Cynthia, Guicheney, Pascale, Das, Soma, Mandel, Jean-Louis, Beggs, Alan H., Laporte, Jocelyn

“…Centronuclear myopathy (CNM) is a genetically heterogeneous disorder associated with general skeletal muscle weakness, type I fiber predominance and atrophy,…”
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Family History is a Poor Screen for Prothrombotic Genes in Children with Stroke by Johal, Sheila C., Garg, Bhuwan P., Heiny, Mark E., Williams, Linda S., Saha, Chandan, Walsh, Laurence E., Golomb, Meredith R.

“…To evaluate family history of early pathological thrombosis as a screen for genetic prothrombotic risk factors in children with stroke. A 5-year retrospective…”
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