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B Agrawal

Showing results (261-270 of 360) with videos related to

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Cold Spring Harbor Molecular Case Studies|May 6, 2016
Mutations in the substrate binding glycine-rich loop of the mitochondrial processing peptidase-α protein (PMPCA) cause a severe mitochondrial diseaseMugdha Joshi, Irina Anselm, Jiahai Shi, et al.
European Journal of Medical Genetics|November 2, 2013
Mutation of KCNJ8 in a patient with Cantú syndrome with unique vascular abnormalities - support for the role of K(ATP) channels in this conditionCatherine A Brownstein, Meghan C Towne, Lovelace J Luquette, et al.
Journal of the American College of Cardiology|March 28, 2015
Cofilin-2 phosphorylation and sequestration in myocardial aggregates: novel pathogenetic mechanisms for idiopathic dilated cardiomyopathyKhaushik Subramanian, Davide Gianni, Cristina Balla, et al.
Muscle & Nerve|November 10, 2018
Novel SPEG mutations in congenital myopathies: Genotype-phenotype correlationsAnita E Qualls, Sandra Donkervoort, Johanna C Herkert, et al.
American Journal of Medical Genetics. Part A|October 22, 2019
Biallelic mutation of FBXL7 suggests a novel form of Hennekam syndromePhilip M Boone, Scott Paterson, Kiana Mohajeri, et al.
European Journal of Human Genetics : EJHG|February 2, 2021
Novel variants in the stem cell niche factor WNT2B define the disease phenotype as a congenital enteropathy with ocular dysgenesisYanjia Jason Zhang, Lissette Jimenez, Svetlana Azova, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 27, 2021
Discordant results between conventional newborn screening and genomic sequencing in the BabySeq ProjectMonica H Wojcik, Tian Zhang, Ozge Ceyhan-Birsoy, et al.
European Journal of Human Genetics : EJHG|February 20, 2014
A compound heterozygous mutation in GPD1 causes hepatomegaly, steatohepatitis, and hypertriglyceridemiaMugdha Joshi, Jacqueline Eagan, Nirav K Desai, et al.
Journal of Perinatology : Official Journal of the California Perinatal Association|August 10, 2019
Infant mortality: the contribution of genetic disordersMonica H Wojcik, Talia S Schwartz, Katri E Thiele, et al.
BMC Medical Genetics|November 15, 2018
De novo variant of TRRAP in a patient with very early onset psychosis in the context of non-verbal learning disability and obsessive-compulsive disorder: a case reportChrystal F Mavros, Catherine A Brownstein, Roshni Thyagrajan, et al.
Pageof 36

Showing results (261-270 of 360) with videos related to

Sort By:
Pageof 36
Cold Spring Harbor Molecular Case Studies|May 6, 2016
Mutations in the substrate binding glycine-rich loop of the mitochondrial processing peptidase-α protein (PMPCA) cause a severe mitochondrial diseaseMugdha Joshi, Irina Anselm, Jiahai Shi, et al.
European Journal of Medical Genetics|November 2, 2013
Mutation of KCNJ8 in a patient with Cantú syndrome with unique vascular abnormalities - support for the role of K(ATP) channels in this conditionCatherine A Brownstein, Meghan C Towne, Lovelace J Luquette, et al.
Journal of the American College of Cardiology|March 28, 2015
Cofilin-2 phosphorylation and sequestration in myocardial aggregates: novel pathogenetic mechanisms for idiopathic dilated cardiomyopathyKhaushik Subramanian, Davide Gianni, Cristina Balla, et al.
Muscle & Nerve|November 10, 2018
Novel SPEG mutations in congenital myopathies: Genotype-phenotype correlationsAnita E Qualls, Sandra Donkervoort, Johanna C Herkert, et al.
American Journal of Medical Genetics. Part A|October 22, 2019
Biallelic mutation of FBXL7 suggests a novel form of Hennekam syndromePhilip M Boone, Scott Paterson, Kiana Mohajeri, et al.
European Journal of Human Genetics : EJHG|February 2, 2021
Novel variants in the stem cell niche factor WNT2B define the disease phenotype as a congenital enteropathy with ocular dysgenesisYanjia Jason Zhang, Lissette Jimenez, Svetlana Azova, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 27, 2021
Discordant results between conventional newborn screening and genomic sequencing in the BabySeq ProjectMonica H Wojcik, Tian Zhang, Ozge Ceyhan-Birsoy, et al.
European Journal of Human Genetics : EJHG|February 20, 2014
A compound heterozygous mutation in GPD1 causes hepatomegaly, steatohepatitis, and hypertriglyceridemiaMugdha Joshi, Jacqueline Eagan, Nirav K Desai, et al.
Journal of Perinatology : Official Journal of the California Perinatal Association|August 10, 2019
Infant mortality: the contribution of genetic disordersMonica H Wojcik, Talia S Schwartz, Katri E Thiele, et al.
BMC Medical Genetics|November 15, 2018
De novo variant of TRRAP in a patient with very early onset psychosis in the context of non-verbal learning disability and obsessive-compulsive disorder: a case reportChrystal F Mavros, Catherine A Brownstein, Roshni Thyagrajan, et al.
Pageof 36