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Marwan Shinawi

Showing results (61-70 of 170) with videos related to

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JIMD Reports|May 14, 2025
Atypical Presentation of <i>IARS1</i>-Related Disorder: Expanding the Phenotype and GenotypeParith Wongkittichote, Kira E Jonatzke, Benjamin T Hyde, et al.
The Journal of Biological Chemistry|May 9, 2015
A Novel Mutation in Isoform 3 of the Plasma Membrane Ca2+ Pump Impairs Cellular Ca2+ Homeostasis in a Patient with Cerebellar Ataxia and Laminin Subunit 1α MutationsTito Calì, Raffaele Lopreiato, Joshua Shimony, et al.
American Journal of Medical Genetics. Part A|January 25, 2014
Scoliosis and vertebral anomalies: additional abnormal phenotypes associated with chromosome 16p11.2 rearrangementHussam Al-Kateb, Geetika Khanna, Isabel Filges, et al.
Molecular Genetics & Genomic Medicine|May 10, 2019
A mutation in Site-1 Protease is associated with a complex phenotype that includes episodic hyperCKemia and focal myoedemaGeorge G Schweitzer, Connie Gan, Robert C Bucelli, et al.
American Journal of Medical Genetics. Part A|June 29, 2010
Mixed gonadal dysgenesis in a child with isodicentric Y chromosome: Does the relative proportion of the 45,X line really matter?Marwan Shinawi, Mark P Cain, Brian A Vanderbrink, et al.
Molecular Genetics and Metabolism|July 12, 2022
Functional analysis of missense DARS2 variants in siblings with leukoencephalopathy with brain stem and spinal cord involvement and lactate elevationParith Wongkittichote, Martina Magistrati, Joshua S Shimony, et al.
Blood|May 20, 2008
Syndromic thrombocytopenia and predisposition to acute myelogenous leukemia caused by constitutional microdeletions on chromosome 21qMarwan Shinawi, Ayelet Erez, Deborah L Shardy, et al.
American Journal of Medical Genetics. Part A|April 17, 2008
Low-level mosaicism of trisomy 14: phenotypic and molecular characterizationMarwan Shinawi, Lina Shao, Linda Jo Bone Jeng, et al.
Journal of Inherited Metabolic Disease|October 10, 2022
DDOST-CDG: Clinical and molecular characterization of a third patient with a milder and a predominantly movement disorder phenotypeIbrahim Elsharkawi, Parith Wongkittichote, Earnest James Paul Daniel, et al.
American Journal of Medical Genetics. Part A|June 15, 2011
Desmosterolosis-phenotypic and molecular characterization of a third case and review of the literatureChristian P Schaaf, Janet Koster, Panagiotis Katsonis, et al.
Pageof 17

Showing results (61-70 of 170) with videos related to

Sort By:
Pageof 17
JIMD Reports|May 14, 2025
Atypical Presentation of <i>IARS1</i>-Related Disorder: Expanding the Phenotype and GenotypeParith Wongkittichote, Kira E Jonatzke, Benjamin T Hyde, et al.
The Journal of Biological Chemistry|May 9, 2015
A Novel Mutation in Isoform 3 of the Plasma Membrane Ca2+ Pump Impairs Cellular Ca2+ Homeostasis in a Patient with Cerebellar Ataxia and Laminin Subunit 1α MutationsTito Calì, Raffaele Lopreiato, Joshua Shimony, et al.
American Journal of Medical Genetics. Part A|January 25, 2014
Scoliosis and vertebral anomalies: additional abnormal phenotypes associated with chromosome 16p11.2 rearrangementHussam Al-Kateb, Geetika Khanna, Isabel Filges, et al.
Molecular Genetics & Genomic Medicine|May 10, 2019
A mutation in Site-1 Protease is associated with a complex phenotype that includes episodic hyperCKemia and focal myoedemaGeorge G Schweitzer, Connie Gan, Robert C Bucelli, et al.
American Journal of Medical Genetics. Part A|June 29, 2010
Mixed gonadal dysgenesis in a child with isodicentric Y chromosome: Does the relative proportion of the 45,X line really matter?Marwan Shinawi, Mark P Cain, Brian A Vanderbrink, et al.
Molecular Genetics and Metabolism|July 12, 2022
Functional analysis of missense DARS2 variants in siblings with leukoencephalopathy with brain stem and spinal cord involvement and lactate elevationParith Wongkittichote, Martina Magistrati, Joshua S Shimony, et al.
Blood|May 20, 2008
Syndromic thrombocytopenia and predisposition to acute myelogenous leukemia caused by constitutional microdeletions on chromosome 21qMarwan Shinawi, Ayelet Erez, Deborah L Shardy, et al.
American Journal of Medical Genetics. Part A|April 17, 2008
Low-level mosaicism of trisomy 14: phenotypic and molecular characterizationMarwan Shinawi, Lina Shao, Linda Jo Bone Jeng, et al.
Journal of Inherited Metabolic Disease|October 10, 2022
DDOST-CDG: Clinical and molecular characterization of a third patient with a milder and a predominantly movement disorder phenotypeIbrahim Elsharkawi, Parith Wongkittichote, Earnest James Paul Daniel, et al.
American Journal of Medical Genetics. Part A|June 15, 2011
Desmosterolosis-phenotypic and molecular characterization of a third case and review of the literatureChristian P Schaaf, Janet Koster, Panagiotis Katsonis, et al.
Pageof 17