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Journal of Child Neurology|August 28, 2003
Congenital glaucoma and neurofibromatosis in a monozygotic twin: case report and review of the literatureMary S Payne, Joseph M Nadell, Yves Lacassie, et al.
American Journal of Medical Genetics. Part A|April 24, 2020
Further delineation of Basel-Vanagaite-Smirin-Yosef syndrome: Report of three patientsDevon Haynes, Lynda Pollack, Chitra Prasad, et al.
American Journal of Perinatology|March 18, 2010
Mixoploidy: perinatal diagnosis and pregnancy outcomeAshwin R Jadhav, Gary A Dildy, Michael A Belfort, et al.
Fertility and Sterility|May 19, 2007
17beta-hydroxysteroid dehydrogenase 3 deficiency in a male pseudohermaphroditeLindsay M Mains, Babak Vakili, Yves Lacassie, et al.
The Journal of the Louisiana State Medical Society : Official Organ of the Louisiana State Medical Society|March 27, 2003
EXIT procedure: a case reportJuan J Gershanik, Yves Lacassie, William Sargent, et al.
European Journal of Medical Genetics|January 17, 2020
Gorlin-like phenotype in a patient with a PTCH2 variant of uncertain significanceKelsey Casano, Hannah Meddaugh, Regina M Zambrano, et al.
American Journal of Medical Genetics. Part A|April 2, 2010
Molecular and functional analysis of a novel MEK2 mutation in cardio-facio-cutaneous syndrome: transmission through four generationsKatherine A Rauen, William E Tidyman, Anne L Estep, et al.
European Journal of Medical Genetics|February 9, 2016
Neonatal severe hyperparathyroidism caused by homozygous mutation in CASR: A rare cause of life-threatening hypercalcemiaHeidi Murphy, Jessica Patrick, Eileen Báez-Irizarry, et al.
The Cleft Palate-Craniofacial Journal : Official Publication of the American Cleft Palate-Craniofacial Association|October 23, 2018
Novel De Novo EFTUD2 Mutations in 2 Cases With MFDM, Initially Suspected to Have Alternative Craniofacial DiagnosesJennie C Lacour, Lori McBride, Hugo St Hilaire, et al.
Clinical Case Reports|April 12, 2017
Neonatal mucolipidosis type II alpha/beta due to compound heterozygosity for a known and novel <i>GNPTAB</i> mutation, and a concomitant heterozygous change in <i>SERPINF1</i> inherited from the motherKirsten A Wood, Regina M Zambrano, Bradley J Cheek, et al.
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