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Naomi Yachelevich

Showing results (1-10 of 13) with videos related to

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Current Problems in Pediatric and Adolescent Health Care|April 12, 2015
Generalized overgrowth syndromes with prenatal onsetNaomi Yachelevich
Annals of Pediatric Endocrinology & Metabolism|January 7, 2022
Genotype - phenotype correlation in an adolescent girl with pathogenic PPARy genetic variation that caused severe hypertriglyceridemia and early onset type 2 diabetesAna Gutierrez Alvarez, Naomi Yachelevich, Brenda Kohn, et al.
Molecular Genetics & Genomic Medicine|July 22, 2020
Transcriptome sequencing identifies a noncoding, deep intronic variant in CLCN7 causing autosomal recessive osteopetrosisOdelia Chorin, Naomi Yachelevich, Khaled Mohamed, et al.
American Journal of Medical Genetics. Part A|May 20, 2011
Terminal deletions of the long arm of chromosome X that include the FMR1 gene in female patients: a case seriesNaomi Yachelevich, Julia Klein Gittler, Susan Klugman, et al.
Military Medicine|December 21, 2004
No need to tax the sick: clinical guidelines for rofecoxib as an alternative effective method to the copayment policy in the advent of increasing pharmaceutical expendituresYitzhak Rosen, Naomi Yachelevich, Paul Benedek, 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.
Nature Genetics|March 12, 2014
Mutations in the DNA methyltransferase gene DNMT3A cause an overgrowth syndrome with intellectual disabilityKatrina Tatton-Brown, Sheila Seal, Elise Ruark, et al.
Genome Research|June 5, 2019
Growth disrupting mutations in epigenetic regulatory molecules are associated with abnormalities of epigenetic agingAaron R Jeffries, Reza Maroofian, Claire G Salter, et al.
Plos Genetics|April 28, 2016
A Founder Mutation in VPS11 Causes an Autosomal Recessive Leukoencephalopathy Linked to Autophagic DefectsJinglan Zhang, Véronik Lachance, Adam Schaffner, et al.
American Journal of Human Genetics|October 18, 2016
Structural Chromosomal Rearrangements Require Nucleotide-Level Resolution: Lessons from Next-Generation Sequencing in Prenatal DiagnosisZehra Ordulu, Tammy Kammin, Harrison Brand, et al.
Pageof 2

Showing results (1-10 of 13) with videos related to

Sort By:
Pageof 2
Current Problems in Pediatric and Adolescent Health Care|April 12, 2015
Generalized overgrowth syndromes with prenatal onsetNaomi Yachelevich
Annals of Pediatric Endocrinology & Metabolism|January 7, 2022
Genotype - phenotype correlation in an adolescent girl with pathogenic PPARy genetic variation that caused severe hypertriglyceridemia and early onset type 2 diabetesAna Gutierrez Alvarez, Naomi Yachelevich, Brenda Kohn, et al.
Molecular Genetics & Genomic Medicine|July 22, 2020
Transcriptome sequencing identifies a noncoding, deep intronic variant in CLCN7 causing autosomal recessive osteopetrosisOdelia Chorin, Naomi Yachelevich, Khaled Mohamed, et al.
American Journal of Medical Genetics. Part A|May 20, 2011
Terminal deletions of the long arm of chromosome X that include the FMR1 gene in female patients: a case seriesNaomi Yachelevich, Julia Klein Gittler, Susan Klugman, et al.
Military Medicine|December 21, 2004
No need to tax the sick: clinical guidelines for rofecoxib as an alternative effective method to the copayment policy in the advent of increasing pharmaceutical expendituresYitzhak Rosen, Naomi Yachelevich, Paul Benedek, 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.
Nature Genetics|March 12, 2014
Mutations in the DNA methyltransferase gene DNMT3A cause an overgrowth syndrome with intellectual disabilityKatrina Tatton-Brown, Sheila Seal, Elise Ruark, et al.
Genome Research|June 5, 2019
Growth disrupting mutations in epigenetic regulatory molecules are associated with abnormalities of epigenetic agingAaron R Jeffries, Reza Maroofian, Claire G Salter, et al.
Plos Genetics|April 28, 2016
A Founder Mutation in VPS11 Causes an Autosomal Recessive Leukoencephalopathy Linked to Autophagic DefectsJinglan Zhang, Véronik Lachance, Adam Schaffner, et al.
American Journal of Human Genetics|October 18, 2016
Structural Chromosomal Rearrangements Require Nucleotide-Level Resolution: Lessons from Next-Generation Sequencing in Prenatal DiagnosisZehra Ordulu, Tammy Kammin, Harrison Brand, et al.
Pageof 2