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Rebecca Okashah

Showing results (1-10 of 11) with videos related to

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Journal of Genetic Counseling|December 27, 2014
Parental Communication and Experiences and Knowledge of Adolescent Siblings of Children with 22q11.2 Deletion SyndromeRebecca Okashah, Kelly Schoch, Stephen R Hooper, et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics|August 4, 2015
5p deletions: Current knowledge and future directionsJoanne M Nguyen, Krista J Qualmann, Rebecca Okashah, et al.
TAG. Theoretical and Applied Genetics. Theoretische Und Angewandte Genetik|August 10, 2012
Comparative mapping in watermelon [Citrullus lanatus (Thunb.) Matsum. et Nakai]Katherine Sandlin, Jason Prothro, Adam Heesacker, et al.
Molecular Genetics and Metabolism|March 14, 2020
Homozygous splice-variants in human ARV1 cause GPI-anchor synthesis deficiencyMariska Davids, Minal Menezes, Yiran Guo, et al.
Journal of Medical Genetics|September 23, 2022
Recurring germline mosaicism in a family due to reversion of an inherited derivative chromosome 8 from an 8;21 translocation with interstitial telomeric sequencesWeimin Bi, Bo Yuan, Pengfei Liu, et al.
Human Mutation|April 28, 2016
Gain-of-Function Mutations in RARB Cause Intellectual Disability with Progressive Motor ImpairmentMyriam Srour, Véronique Caron, Toni Pearson, et al.
American Journal of Human Genetics|December 13, 2016
Mutations in the Chromatin Regulator Gene BRPF1 Cause Syndromic Intellectual Disability and Deficient Histone AcetylationKezhi Yan, Justine Rousseau, Rebecca Okashah Littlejohn, et al.
American Journal of Human Genetics|February 1, 2023
Bi-allelic TTI1 variants cause an autosomal-recessive neurodevelopmental disorder with microcephalyMargaux Serey-Gaut, Marisol Cortes, Periklis Makrythanasis, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 18, 2022
Biallelic PRMT7 pathogenic variants are associated with a recognizable syndromic neurodevelopmental disorder with short stature, obesity, and craniofacial and digital abnormalitiesElisa Cali, Mohnish Suri, Marcello Scala, et al.
Human Genetics|April 14, 2016
Pathogenetics of alveolar capillary dysplasia with misalignment of pulmonary veinsPrzemyslaw Szafranski, Tomasz Gambin, Avinash V Dharmadhikari, et al.
Pageof 2

Showing results (1-10 of 11) with videos related to

Sort By:
Pageof 2
Journal of Genetic Counseling|December 27, 2014
Parental Communication and Experiences and Knowledge of Adolescent Siblings of Children with 22q11.2 Deletion SyndromeRebecca Okashah, Kelly Schoch, Stephen R Hooper, et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics|August 4, 2015
5p deletions: Current knowledge and future directionsJoanne M Nguyen, Krista J Qualmann, Rebecca Okashah, et al.
TAG. Theoretical and Applied Genetics. Theoretische Und Angewandte Genetik|August 10, 2012
Comparative mapping in watermelon [Citrullus lanatus (Thunb.) Matsum. et Nakai]Katherine Sandlin, Jason Prothro, Adam Heesacker, et al.
Molecular Genetics and Metabolism|March 14, 2020
Homozygous splice-variants in human ARV1 cause GPI-anchor synthesis deficiencyMariska Davids, Minal Menezes, Yiran Guo, et al.
Journal of Medical Genetics|September 23, 2022
Recurring germline mosaicism in a family due to reversion of an inherited derivative chromosome 8 from an 8;21 translocation with interstitial telomeric sequencesWeimin Bi, Bo Yuan, Pengfei Liu, et al.
Human Mutation|April 28, 2016
Gain-of-Function Mutations in RARB Cause Intellectual Disability with Progressive Motor ImpairmentMyriam Srour, Véronique Caron, Toni Pearson, et al.
American Journal of Human Genetics|December 13, 2016
Mutations in the Chromatin Regulator Gene BRPF1 Cause Syndromic Intellectual Disability and Deficient Histone AcetylationKezhi Yan, Justine Rousseau, Rebecca Okashah Littlejohn, et al.
American Journal of Human Genetics|February 1, 2023
Bi-allelic TTI1 variants cause an autosomal-recessive neurodevelopmental disorder with microcephalyMargaux Serey-Gaut, Marisol Cortes, Periklis Makrythanasis, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 18, 2022
Biallelic PRMT7 pathogenic variants are associated with a recognizable syndromic neurodevelopmental disorder with short stature, obesity, and craniofacial and digital abnormalitiesElisa Cali, Mohnish Suri, Marcello Scala, et al.
Human Genetics|April 14, 2016
Pathogenetics of alveolar capillary dysplasia with misalignment of pulmonary veinsPrzemyslaw Szafranski, Tomasz Gambin, Avinash V Dharmadhikari, et al.
Pageof 2