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Cornelius F Boerkoel

Showing results (11-20 of 134) with videos related to

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American Journal of Medical Genetics. Part A|March 3, 2009
A novel syndrome with psychiatric features and review of malformation syndromes with psychiatric disordersChristèle du Souich, Jehannine C Austin, Robin Friedlander, et al.
American Journal of Medical Genetics. Part A|September 24, 2021
Mesenteric cysts, lymphatic leak, and cerebral cavernous malformation in a proband with KRIT1-related diseaseAshley Moller-Hansen, Stephanie Huynh, Cornelius F Boerkoel, et al.
Current Genomics|September 2, 2009
Gene clusters, molecular evolution and disease: a speculationLeah I Elizondo, Paymaan Jafar-Nejad, J Marietta Clewing, et al.
BMJ Case Reports|February 20, 2013
Kearns-Sayre syndrome presenting as isolated growth failureConisha Mone Holloman, Lynne A Wolfe, William A Gahl, et al.
American Journal of Medical Genetics. Part A|April 5, 2014
Coffin-Siris syndrome: phenotypic evolution of a novel SMARCA4 mutationMichael Tzeng, Christèle du Souich, Helen Wing-Hong Cheung, et al.
Scientific Reports|March 11, 2018
Reactive oxygen species stress increases accumulation of tyrosyl-DNA phsosphodiesterase 1 within mitochondriaHok Khim Fam, Kunho Choi, Lauren Fougner, et al.
Ophthalmic Genetics|May 7, 2015
Congenital Bilateral Retinal Detachment in Two Siblings with Osteoporosis-Pseudoglioma SyndromeLotte G Welinder, Johane M Robitaille, Rosemarie Rupps, et al.
American Journal of Medical Genetics. Part A|August 17, 2013
Bone marrow transplantation in Schimke immuno-osseous dysplasiaAlireza Baradaran-Heravi, Jonas Lange, Yumi Asakura, et al.
Journal of Molecular Histology|March 29, 2013
Expression profile and mitochondrial colocalization of Tdp1 in peripheral human tissuesHok Khim Fam, Miraj K Chowdhury, Cheryl Walton, et al.
Advances in Experimental Medicine and Biology|August 7, 2010
Spinocerebellar ataxia with axonal neuropathyCheryl Walton, Heidrun Interthal, Ryuki Hirano, et al.
Pageof 14

Showing results (11-20 of 134) with videos related to

Sort By:
Pageof 14
American Journal of Medical Genetics. Part A|March 3, 2009
A novel syndrome with psychiatric features and review of malformation syndromes with psychiatric disordersChristèle du Souich, Jehannine C Austin, Robin Friedlander, et al.
American Journal of Medical Genetics. Part A|September 24, 2021
Mesenteric cysts, lymphatic leak, and cerebral cavernous malformation in a proband with KRIT1-related diseaseAshley Moller-Hansen, Stephanie Huynh, Cornelius F Boerkoel, et al.
Current Genomics|September 2, 2009
Gene clusters, molecular evolution and disease: a speculationLeah I Elizondo, Paymaan Jafar-Nejad, J Marietta Clewing, et al.
BMJ Case Reports|February 20, 2013
Kearns-Sayre syndrome presenting as isolated growth failureConisha Mone Holloman, Lynne A Wolfe, William A Gahl, et al.
American Journal of Medical Genetics. Part A|April 5, 2014
Coffin-Siris syndrome: phenotypic evolution of a novel SMARCA4 mutationMichael Tzeng, Christèle du Souich, Helen Wing-Hong Cheung, et al.
Scientific Reports|March 11, 2018
Reactive oxygen species stress increases accumulation of tyrosyl-DNA phsosphodiesterase 1 within mitochondriaHok Khim Fam, Kunho Choi, Lauren Fougner, et al.
Ophthalmic Genetics|May 7, 2015
Congenital Bilateral Retinal Detachment in Two Siblings with Osteoporosis-Pseudoglioma SyndromeLotte G Welinder, Johane M Robitaille, Rosemarie Rupps, et al.
American Journal of Medical Genetics. Part A|August 17, 2013
Bone marrow transplantation in Schimke immuno-osseous dysplasiaAlireza Baradaran-Heravi, Jonas Lange, Yumi Asakura, et al.
Journal of Molecular Histology|March 29, 2013
Expression profile and mitochondrial colocalization of Tdp1 in peripheral human tissuesHok Khim Fam, Miraj K Chowdhury, Cheryl Walton, et al.
Advances in Experimental Medicine and Biology|August 7, 2010
Spinocerebellar ataxia with axonal neuropathyCheryl Walton, Heidrun Interthal, Ryuki Hirano, et al.
Pageof 14