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Reeval Segel

Showing results (31-40 of 54) with videos related to

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Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 20, 2018
Haploseek: a 24-hour all-in-one method for preimplantation genetic diagnosis (PGD) of monogenic disease and aneuploidyDaniel Backenroth, Fouad Zahdeh, Yehuda Kling, et al.
Journal of Clinical Immunology|September 5, 2022
Clinically Complex LRBA Deficiency Due to a Founder Allele in the Georgian Jewish PopulationTal Freund, Sarah K Baxter, Tom Walsh, et al.
Journal of Medical Genetics|February 9, 2013
Agenesis of corpus callosum and optic nerve hypoplasia due to mutations in SLC25A1 encoding the mitochondrial citrate transporterSimon Edvardson, Vito Porcelli, Chaim Jalas, et al.
Medrxiv : the Preprint Server for Health Sciences|September 25, 2023
Clinical actionability of genetic findings in cerebral palsySara A Lewis, Maya Chopra, Julie S Cohen, et al.
Neurology|February 12, 2017
Vesicular acetylcholine transporter defect underlies devastating congenital myasthenia syndromeAdi Aran, Reeval Segel, Kota Kaneshige, et al.
The New England Journal of Medicine|September 13, 2018
Essential Role of BRCA2 in Ovarian Development and FunctionAriella Weinberg-Shukron, Mariana Rachmiel, Paul Renbaum, et al.
JAMA Pediatrics|December 2, 2024
Clinical Actionability of Genetic Findings in Cerebral Palsy: A Systematic Review and Meta-AnalysisSara A Lewis, Maya Chopra, Julie S Cohen, et al.
Prenatal Diagnosis|February 14, 2024
Exploring the factors affecting classification and reporting of uncertain prenatal microarray findings, using a "virtual fetus" model-a pilot studyRachel Michaelson-Cohen, Liat Sheelo Salzer, Dana Brabbing-Goldstein, et al.
Neurology|May 11, 2016
Loss of function of PCDH12 underlies recessive microcephaly mimicking intrauterine infectionAdi Aran, Nuphar Rosenfeld, Ranit Jaron, et al.
Pediatric Nephrology (Berlin, Germany)|August 6, 2017
Exome sequencing in Jewish and Arab patients with rhabdomyolysis reveals single-gene etiology in 43% of casesAsaf Vivante, Hadas Ityel, Ben Pode-Shakked, et al.
Pageof 6

Showing results (31-40 of 54) with videos related to

Sort By:
Pageof 6
Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 20, 2018
Haploseek: a 24-hour all-in-one method for preimplantation genetic diagnosis (PGD) of monogenic disease and aneuploidyDaniel Backenroth, Fouad Zahdeh, Yehuda Kling, et al.
Journal of Clinical Immunology|September 5, 2022
Clinically Complex LRBA Deficiency Due to a Founder Allele in the Georgian Jewish PopulationTal Freund, Sarah K Baxter, Tom Walsh, et al.
Journal of Medical Genetics|February 9, 2013
Agenesis of corpus callosum and optic nerve hypoplasia due to mutations in SLC25A1 encoding the mitochondrial citrate transporterSimon Edvardson, Vito Porcelli, Chaim Jalas, et al.
Medrxiv : the Preprint Server for Health Sciences|September 25, 2023
Clinical actionability of genetic findings in cerebral palsySara A Lewis, Maya Chopra, Julie S Cohen, et al.
Neurology|February 12, 2017
Vesicular acetylcholine transporter defect underlies devastating congenital myasthenia syndromeAdi Aran, Reeval Segel, Kota Kaneshige, et al.
The New England Journal of Medicine|September 13, 2018
Essential Role of BRCA2 in Ovarian Development and FunctionAriella Weinberg-Shukron, Mariana Rachmiel, Paul Renbaum, et al.
JAMA Pediatrics|December 2, 2024
Clinical Actionability of Genetic Findings in Cerebral Palsy: A Systematic Review and Meta-AnalysisSara A Lewis, Maya Chopra, Julie S Cohen, et al.
Prenatal Diagnosis|February 14, 2024
Exploring the factors affecting classification and reporting of uncertain prenatal microarray findings, using a "virtual fetus" model-a pilot studyRachel Michaelson-Cohen, Liat Sheelo Salzer, Dana Brabbing-Goldstein, et al.
Neurology|May 11, 2016
Loss of function of PCDH12 underlies recessive microcephaly mimicking intrauterine infectionAdi Aran, Nuphar Rosenfeld, Ranit Jaron, et al.
Pediatric Nephrology (Berlin, Germany)|August 6, 2017
Exome sequencing in Jewish and Arab patients with rhabdomyolysis reveals single-gene etiology in 43% of casesAsaf Vivante, Hadas Ityel, Ben Pode-Shakked, et al.
Pageof 6