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Gerald F Cox

Showing results (11-20 of 75) with videos related to

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American Journal of Medical Genetics. Part A|July 21, 2004
Clinical presentation of 13 patients with subtelomeric rearrangements and a review of the literatureAmy E Roberts, Gerald F Cox, Virginia Kimonis, et al.
Documenta Ophthalmologica. Advances in Ophthalmology|February 2, 2017
Progressive retinal degeneration in a girl with Knobloch syndrome who presented with signs of ocular albinismLibe Gradstein, Ronald M Hansen, Gerald F Cox, et al.
Human Genetics|November 8, 2008
A novel hypomorphic MECP2 point mutation is associated with a neuropsychiatric phenotypeAbidemi A Adegbola, Michael L Gonzales, Andrew Chess, et al.
Molecular Genetics and Metabolism|February 5, 2023
Plasma glucosylsphingosine correlations with baseline disease burden and response to eliglustat in two clinical trials of previously untreated adults with Gaucher disease type 1M Judith Peterschmitt, Meredith C Foster, Allena J Ji, et al.
Molecular Genetics and Metabolism Reports|January 30, 2020
Effects of paroxetine, ketoconazole, and rifampin on the metabolism of eliglustat, an oral substrate reduction therapy for Gaucher disease type 1Lucie Vu, Gerald F Cox, Jennifer Ibrahim, et al.
Proceedings of the National Academy of Sciences of the United States of America|November 26, 2014
Monoallelic expression of the human FOXP2 speech geneAbidemi A Adegbola, Gerald F Cox, Elizabeth M Bradshaw, et al.
Journal of Pediatric Surgery|March 20, 2012
High rate of postoperative mortality in patients with mucopolysaccharidosis I: findings from the MPS I RegistryPamela Arn, Chester Whitley, J Edmond Wraith, et al.
American Journal of Human Genetics|May 23, 2002
Intracytoplasmic sperm injection may increase the risk of imprinting defectsGerald F Cox, Joachim Bürger, Va Lip, et al.
Molecular Genetics and Metabolism|September 24, 2009
Japan Elaprase Treatment (JET) study: idursulfase enzyme replacement therapy in adult patients with attenuated Hunter syndrome (Mucopolysaccharidosis II, MPS II)Torayuki Okuyama, Akemi Tanaka, Yasuyuki Suzuki, et al.
Journal of Neuro-Ophthalmology : the Official Journal of the North American Neuro-Ophthalmology Society|November 29, 2013
Optic atrophy and a Leigh-like syndrome due to mutations in the c12orf65 gene: report of a novel mutation and review of the literatureGena Heidary, Laurel Calderwood, Gerald F Cox, et al.
Pageof 8

Showing results (11-20 of 75) with videos related to

Sort By:
Pageof 8
American Journal of Medical Genetics. Part A|July 21, 2004
Clinical presentation of 13 patients with subtelomeric rearrangements and a review of the literatureAmy E Roberts, Gerald F Cox, Virginia Kimonis, et al.
Documenta Ophthalmologica. Advances in Ophthalmology|February 2, 2017
Progressive retinal degeneration in a girl with Knobloch syndrome who presented with signs of ocular albinismLibe Gradstein, Ronald M Hansen, Gerald F Cox, et al.
Human Genetics|November 8, 2008
A novel hypomorphic MECP2 point mutation is associated with a neuropsychiatric phenotypeAbidemi A Adegbola, Michael L Gonzales, Andrew Chess, et al.
Molecular Genetics and Metabolism|February 5, 2023
Plasma glucosylsphingosine correlations with baseline disease burden and response to eliglustat in two clinical trials of previously untreated adults with Gaucher disease type 1M Judith Peterschmitt, Meredith C Foster, Allena J Ji, et al.
Molecular Genetics and Metabolism Reports|January 30, 2020
Effects of paroxetine, ketoconazole, and rifampin on the metabolism of eliglustat, an oral substrate reduction therapy for Gaucher disease type 1Lucie Vu, Gerald F Cox, Jennifer Ibrahim, et al.
Proceedings of the National Academy of Sciences of the United States of America|November 26, 2014
Monoallelic expression of the human FOXP2 speech geneAbidemi A Adegbola, Gerald F Cox, Elizabeth M Bradshaw, et al.
Journal of Pediatric Surgery|March 20, 2012
High rate of postoperative mortality in patients with mucopolysaccharidosis I: findings from the MPS I RegistryPamela Arn, Chester Whitley, J Edmond Wraith, et al.
American Journal of Human Genetics|May 23, 2002
Intracytoplasmic sperm injection may increase the risk of imprinting defectsGerald F Cox, Joachim Bürger, Va Lip, et al.
Molecular Genetics and Metabolism|September 24, 2009
Japan Elaprase Treatment (JET) study: idursulfase enzyme replacement therapy in adult patients with attenuated Hunter syndrome (Mucopolysaccharidosis II, MPS II)Torayuki Okuyama, Akemi Tanaka, Yasuyuki Suzuki, et al.
Journal of Neuro-Ophthalmology : the Official Journal of the North American Neuro-Ophthalmology Society|November 29, 2013
Optic atrophy and a Leigh-like syndrome due to mutations in the c12orf65 gene: report of a novel mutation and review of the literatureGena Heidary, Laurel Calderwood, Gerald F Cox, et al.
Pageof 8