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Marwan Shinawi

Showing results (71-80 of 170) with videos related to

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Nature Genetics|May 27, 2008
Prader-Willi phenotype caused by paternal deficiency for the HBII-85 C/D box small nucleolar RNA clusterTrilochan Sahoo, Daniela del Gaudio, Jennifer R German, et al.
Journal of Pediatric Hematology/Oncology|July 21, 2018
Special Therapy and Psychosocial Needs Identified in a Multidisciplinary Cancer Predisposition Syndrome ClinicAndrew P Groves, Katie Gettinger, Todd E Druley, et al.
American Journal of Medical Genetics. Part A|June 4, 2014
Brain MRI abnormalities and spectrum of neurological and clinical findings in three patients with proximal 16p11.2 microduplicationIsabel Filges, Steven Sparagana, Michael Sargent, et al.
European Journal of Human Genetics : EJHG|October 21, 2010
Expanding the clinical spectrum of the 16p11.2 chromosomal rearrangements: three patients with syringomyeliaChristian P Schaaf, Robin P Goin-Kochel, Kerri P Nowell, et al.
Gene|January 1, 2014
Two novel RAD21 mutations in patients with mild Cornelia de Lange syndrome-like presentation and report of the first familial caseAgata Minor, Marwan Shinawi, Jacob S Hogue, et al.
American Journal of Medical Genetics. Part A|May 14, 2011
11p14.1 microdeletions associated with ADHD, autism, developmental delay, and obesityMarwan Shinawi, Trilochan Sahoo, Bruno Maranda, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|February 18, 2022
Clinical pharmacogenomic testing and reporting: A technical standard of the American College of Medical Genetics and Genomics (ACMG)Marwan K Tayeh, Andrea Gaedigk, Matthew P Goetz, et al.
Ophthalmic Genetics|December 14, 2023
Case report: ocular manifestations of a gain-of-function mutation in <i>CLCN6</i>, a newly diagnosed diseaseLawrencia Kimera, Sameera Nadimpalli, Sudhi Kurup, et al.
European Journal of Human Genetics : EJHG|September 4, 2020
Wilms tumor in patients with osteopathia striata with cranial sclerosisAlicia Bach, Jingyi Mi, Matthew Hunter, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 3, 2017
The Exome Clinic and the role of medical genetics expertise in the interpretation of exome sequencing resultsDustin Baldridge, Jennifer Heeley, Marisa Vineyard, et al.
Pageof 17

Showing results (71-80 of 170) with videos related to

Sort By:
Pageof 17
Nature Genetics|May 27, 2008
Prader-Willi phenotype caused by paternal deficiency for the HBII-85 C/D box small nucleolar RNA clusterTrilochan Sahoo, Daniela del Gaudio, Jennifer R German, et al.
Journal of Pediatric Hematology/Oncology|July 21, 2018
Special Therapy and Psychosocial Needs Identified in a Multidisciplinary Cancer Predisposition Syndrome ClinicAndrew P Groves, Katie Gettinger, Todd E Druley, et al.
American Journal of Medical Genetics. Part A|June 4, 2014
Brain MRI abnormalities and spectrum of neurological and clinical findings in three patients with proximal 16p11.2 microduplicationIsabel Filges, Steven Sparagana, Michael Sargent, et al.
European Journal of Human Genetics : EJHG|October 21, 2010
Expanding the clinical spectrum of the 16p11.2 chromosomal rearrangements: three patients with syringomyeliaChristian P Schaaf, Robin P Goin-Kochel, Kerri P Nowell, et al.
Gene|January 1, 2014
Two novel RAD21 mutations in patients with mild Cornelia de Lange syndrome-like presentation and report of the first familial caseAgata Minor, Marwan Shinawi, Jacob S Hogue, et al.
American Journal of Medical Genetics. Part A|May 14, 2011
11p14.1 microdeletions associated with ADHD, autism, developmental delay, and obesityMarwan Shinawi, Trilochan Sahoo, Bruno Maranda, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|February 18, 2022
Clinical pharmacogenomic testing and reporting: A technical standard of the American College of Medical Genetics and Genomics (ACMG)Marwan K Tayeh, Andrea Gaedigk, Matthew P Goetz, et al.
Ophthalmic Genetics|December 14, 2023
Case report: ocular manifestations of a gain-of-function mutation in <i>CLCN6</i>, a newly diagnosed diseaseLawrencia Kimera, Sameera Nadimpalli, Sudhi Kurup, et al.
European Journal of Human Genetics : EJHG|September 4, 2020
Wilms tumor in patients with osteopathia striata with cranial sclerosisAlicia Bach, Jingyi Mi, Matthew Hunter, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 3, 2017
The Exome Clinic and the role of medical genetics expertise in the interpretation of exome sequencing resultsDustin Baldridge, Jennifer Heeley, Marisa Vineyard, et al.
Pageof 17