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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 disorders
Christèle 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 disease
Ashley Moller-Hansen, Stephanie Huynh, Cornelius F Boerkoel, et al.
Current Genomics
|
September 2, 2009
Gene clusters, molecular evolution and disease: a speculation
Leah I Elizondo, Paymaan Jafar-Nejad, J Marietta Clewing, et al.
BMJ Case Reports
|
February 20, 2013
Kearns-Sayre syndrome presenting as isolated growth failure
Conisha 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 mutation
Michael 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 mitochondria
Hok Khim Fam, Kunho Choi, Lauren Fougner, et al.
Ophthalmic Genetics
|
May 7, 2015
Congenital Bilateral Retinal Detachment in Two Siblings with Osteoporosis-Pseudoglioma Syndrome
Lotte 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 dysplasia
Alireza 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 tissues
Hok Khim Fam, Miraj K Chowdhury, Cheryl Walton, et al.
Advances in Experimental Medicine and Biology
|
August 7, 2010
Spinocerebellar ataxia with axonal neuropathy
Cheryl Walton, Heidrun Interthal, Ryuki Hirano, et al.
Page
of 14
Search research articles
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Showing results (11-20 of 134) with videos related to
Sort By:
Page
of 14
American Journal of Medical Genetics. Part A
|
March 3, 2009
A novel syndrome with psychiatric features and review of malformation syndromes with psychiatric disorders
Christèle 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 disease
Ashley Moller-Hansen, Stephanie Huynh, Cornelius F Boerkoel, et al.
Current Genomics
|
September 2, 2009
Gene clusters, molecular evolution and disease: a speculation
Leah I Elizondo, Paymaan Jafar-Nejad, J Marietta Clewing, et al.
BMJ Case Reports
|
February 20, 2013
Kearns-Sayre syndrome presenting as isolated growth failure
Conisha 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 mutation
Michael 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 mitochondria
Hok Khim Fam, Kunho Choi, Lauren Fougner, et al.
Ophthalmic Genetics
|
May 7, 2015
Congenital Bilateral Retinal Detachment in Two Siblings with Osteoporosis-Pseudoglioma Syndrome
Lotte 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 dysplasia
Alireza 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 tissues
Hok Khim Fam, Miraj K Chowdhury, Cheryl Walton, et al.
Advances in Experimental Medicine and Biology
|
August 7, 2010
Spinocerebellar ataxia with axonal neuropathy
Cheryl Walton, Heidrun Interthal, Ryuki Hirano, et al.
Page
of 14