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Marwan Shinawi

Showing results (41-50 of 170) with videos related to

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Molecular Genetics and Metabolism|June 16, 2023
Treatment and outcomes of symptomatic hyperammonemia following asparaginase therapy in children with acute lymphoblastic leukemiaAngela Lee, Irem Eldem, Burak Altintas, et al.
Neurology|November 14, 2018
Child Neurology: Brown-Vialetto-Van Laere syndrome: Dramatic visual recovery after delayed riboflavin therapyAhmed K Bamaga, Robi N Maamari, Susan M Culican, et al.
American Journal of Medical Genetics. Part A|August 13, 2005
Recognition of Smith-Lemli-Opitz syndrome (RSH) in the fetus: utility of ultrasonography and biochemical analysis in pregnancies with low maternal serum estriolMarwan Shinawi, Sara Szabo, Edwina Popek, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|April 17, 2020
Diagnostic testing for uniparental disomy: a points to consider statement from the American College of Medical Genetics and Genomics (ACMG)Daniela Del Gaudio, Marwan Shinawi, Caroline Astbury, et al.
American Journal of Medical Genetics. Part A|May 27, 2024
Osteopathia striata with cranial sclerosis as a cancer predisposition syndrome: The first report of neuroblastoma and review of all cancers in OSCSAya Abu-El-Haija, Kyle Dillahunt, Nicole Safina, et al.
Clinical Case Reports|July 18, 2015
Digynic triploidy: utility and challenges of noninvasive prenatal testingJulie Fleischer, Archana Shenoy, Katherine Goetzinger, et al.
Archives of Neurology|August 12, 2009
Mitochondrial neurogastrointestinal encephalopathy due to mutations in RRM2BAziz Shaibani, Oleg A Shchelochkov, Shulin Zhang, et al.
Molecular Genetics & Genomic Medicine|February 5, 2018
Mutations in the PH Domain of DNM1 are associated with a nonepileptic phenotype characterized by developmental delay and neurobehavioral abnormalitiesEmily Brereton, Emily Fassi, Gabriel C Araujo, et al.
Journal of Clinical Research in Pediatric Endocrinology|May 10, 2018
Inherited Deletion of 1q, Hyperparathyroidism and Signs of Y-chromosomal Influence in a Patient with Turner SyndromeAlejandro F. Siller, Alex Shimony, Marwan Shinawi, et al.
Clinical Genetics|November 14, 2019
Sorting nexin 27 (SNX27) variants associated with seizures, developmental delay, behavioral disturbance, and subcortical brain abnormalitiesDaniel J Parente, Stephanie M Morris, Robert C McKinstry, et al.
Pageof 17

Showing results (41-50 of 170) with videos related to

Sort By:
Pageof 17
Molecular Genetics and Metabolism|June 16, 2023
Treatment and outcomes of symptomatic hyperammonemia following asparaginase therapy in children with acute lymphoblastic leukemiaAngela Lee, Irem Eldem, Burak Altintas, et al.
Neurology|November 14, 2018
Child Neurology: Brown-Vialetto-Van Laere syndrome: Dramatic visual recovery after delayed riboflavin therapyAhmed K Bamaga, Robi N Maamari, Susan M Culican, et al.
American Journal of Medical Genetics. Part A|August 13, 2005
Recognition of Smith-Lemli-Opitz syndrome (RSH) in the fetus: utility of ultrasonography and biochemical analysis in pregnancies with low maternal serum estriolMarwan Shinawi, Sara Szabo, Edwina Popek, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|April 17, 2020
Diagnostic testing for uniparental disomy: a points to consider statement from the American College of Medical Genetics and Genomics (ACMG)Daniela Del Gaudio, Marwan Shinawi, Caroline Astbury, et al.
American Journal of Medical Genetics. Part A|May 27, 2024
Osteopathia striata with cranial sclerosis as a cancer predisposition syndrome: The first report of neuroblastoma and review of all cancers in OSCSAya Abu-El-Haija, Kyle Dillahunt, Nicole Safina, et al.
Clinical Case Reports|July 18, 2015
Digynic triploidy: utility and challenges of noninvasive prenatal testingJulie Fleischer, Archana Shenoy, Katherine Goetzinger, et al.
Archives of Neurology|August 12, 2009
Mitochondrial neurogastrointestinal encephalopathy due to mutations in RRM2BAziz Shaibani, Oleg A Shchelochkov, Shulin Zhang, et al.
Molecular Genetics & Genomic Medicine|February 5, 2018
Mutations in the PH Domain of DNM1 are associated with a nonepileptic phenotype characterized by developmental delay and neurobehavioral abnormalitiesEmily Brereton, Emily Fassi, Gabriel C Araujo, et al.
Journal of Clinical Research in Pediatric Endocrinology|May 10, 2018
Inherited Deletion of 1q, Hyperparathyroidism and Signs of Y-chromosomal Influence in a Patient with Turner SyndromeAlejandro F. Siller, Alex Shimony, Marwan Shinawi, et al.
Clinical Genetics|November 14, 2019
Sorting nexin 27 (SNX27) variants associated with seizures, developmental delay, behavioral disturbance, and subcortical brain abnormalitiesDaniel J Parente, Stephanie M Morris, Robert C McKinstry, et al.
Pageof 17