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Rachel Rabin

Showing results (1-10 of 36) with videos related to

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Methods in Molecular Biology (Clifton, N.J.)|November 7, 2015
Enzyme-Linked ImmunoSpot (ELISpot) for Single-Cell AnalysisSylvia Janetzki, Rachel Rabin
American Journal of Medical Genetics. Part A|October 23, 2018
Intellectual disability due to monoallelic variant in GATAD2B and mosaicism in unaffected parentRachel Rabin, Francisca Millan, Juan Cabrera-Luque, et al.
American Journal of Medical Genetics. Part A|March 8, 2021
Severe epileptic encephalopathy associated with compound heterozygosity of THG1L variants in the Ashkenazi Jewish populationRachel Rabin, Yoel Hirsch, Martin M Johansson, et al.
Molecular Genetics & Genomic Medicine|November 10, 2019
Sudden unexpected death in asymptomatic infants due to PPA2 variantsColin K L Phoon, Matthew Halvorsen, David B Goldstein, et al.
American Journal of Medical Genetics. Part A|July 10, 2019
Study of carrier frequency of Warsaw breakage syndrome in the Ashkenazi Jewish population and presentation of two casesRachel Rabin, Yoel Hirsch, Martin M Johansson, et al.
American Journal of Medical Genetics. Part A|January 14, 2026
Novel RNF113A Variant Underlying X-Linked Trichothiodystrophy With Presumed Mosaicism in an Unaffected MotherRachel Rabin, Kevin T A Booth, Shawn E Cowper, et al.
American Journal of Medical Genetics. Part A|October 30, 2024
ARSA Variant Associated With Late Infantile Metachromatic Leukodystrophy and Carrier Rate in Individuals of Ashkenazi Jewish AncestryRachel Rabin, Yoel Hirsch, Kevin T A Booth, et al.
JAMA Psychiatry|April 9, 2025
Convergence of Cannabis and Psychosis on the Dopamine SystemJessica Ahrens, Sabrina D Ford, Betsy Schaefer, et al.
American Journal of Medical Genetics. Part A|August 9, 2022
Expanding the phenotypic spectrum of COLEC10-Related 3MC syndrome: A glimpse into COLEC10-Related 3MC syndrome in the Ashkenazi Jewish populationRachel Rabin, Yoel Hirsch, Wendy K Chung, et al.
American Journal of Human Genetics|October 22, 2019
Recessive Mutations in AP1B1 Cause Ichthyosis, Deafness, and PhotophobiaLynn M Boyden, Lihi Atzmony, Claire Hamilton, et al.
Pageof 4

Showing results (1-10 of 36) with videos related to

Sort By:
Pageof 4
Methods in Molecular Biology (Clifton, N.J.)|November 7, 2015
Enzyme-Linked ImmunoSpot (ELISpot) for Single-Cell AnalysisSylvia Janetzki, Rachel Rabin
American Journal of Medical Genetics. Part A|October 23, 2018
Intellectual disability due to monoallelic variant in GATAD2B and mosaicism in unaffected parentRachel Rabin, Francisca Millan, Juan Cabrera-Luque, et al.
American Journal of Medical Genetics. Part A|March 8, 2021
Severe epileptic encephalopathy associated with compound heterozygosity of THG1L variants in the Ashkenazi Jewish populationRachel Rabin, Yoel Hirsch, Martin M Johansson, et al.
Molecular Genetics & Genomic Medicine|November 10, 2019
Sudden unexpected death in asymptomatic infants due to PPA2 variantsColin K L Phoon, Matthew Halvorsen, David B Goldstein, et al.
American Journal of Medical Genetics. Part A|July 10, 2019
Study of carrier frequency of Warsaw breakage syndrome in the Ashkenazi Jewish population and presentation of two casesRachel Rabin, Yoel Hirsch, Martin M Johansson, et al.
American Journal of Medical Genetics. Part A|January 14, 2026
Novel RNF113A Variant Underlying X-Linked Trichothiodystrophy With Presumed Mosaicism in an Unaffected MotherRachel Rabin, Kevin T A Booth, Shawn E Cowper, et al.
American Journal of Medical Genetics. Part A|October 30, 2024
ARSA Variant Associated With Late Infantile Metachromatic Leukodystrophy and Carrier Rate in Individuals of Ashkenazi Jewish AncestryRachel Rabin, Yoel Hirsch, Kevin T A Booth, et al.
JAMA Psychiatry|April 9, 2025
Convergence of Cannabis and Psychosis on the Dopamine SystemJessica Ahrens, Sabrina D Ford, Betsy Schaefer, et al.
American Journal of Medical Genetics. Part A|August 9, 2022
Expanding the phenotypic spectrum of COLEC10-Related 3MC syndrome: A glimpse into COLEC10-Related 3MC syndrome in the Ashkenazi Jewish populationRachel Rabin, Yoel Hirsch, Wendy K Chung, et al.
American Journal of Human Genetics|October 22, 2019
Recessive Mutations in AP1B1 Cause Ichthyosis, Deafness, and PhotophobiaLynn M Boyden, Lihi Atzmony, Claire Hamilton, et al.
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