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Methods in Molecular Biology (Clifton, N.J.)
|
December 4, 2018
Molecular Testing for Preimplantation Genetic Diagnosis of Single Gene Disorders
Rebekah S Zimmerman, Jennifer Eccles, Chaim Jalas, et al.
Molecular Genetics & Genomic Medicine
|
March 25, 2015
Carrier frequencies of eleven mutations in eight genes associated with primary ciliary dyskinesia in the Ashkenazi Jewish population
Anastasia M Fedick, Chaim Jalas, Nathan R Treff, et al.
Annals of Neurology
|
April 24, 2012
Hereditary sensory autonomic neuropathy caused by a mutation in dystonin
Simon Edvardson, Yuval Cinnamon, Chaim Jalas, et al.
Journal of Assisted Reproduction and Genetics
|
August 8, 2014
Improved sensitivity to detect recombination using qPCR for Dyskeratosis Congenita PGD
Ndeye-Aicha Gueye, Chaim Jalas, Xin Tao, et al.
Plos One
|
April 5, 2013
High-throughput carrier screening using TaqMan allelic discrimination
Anastasia Fedick, Jing Su, Chaim Jalas, et al.
HGG Advances
|
April 22, 2025
A variant in RNF212B may contribute to female infertility and recurrent pregnancy loss
Michelle E Darko, Michelle Kappy, Daniel Rabizadeh, et al.
Fertility and Sterility
|
January 4, 2022
The concordance rates of an initial trophectoderm biopsy with the rest of the embryo using PGTseq, a targeted next-generation sequencing platform for preimplantation genetic testing-aneuploidy
Julia Kim, Xin Tao, Michael Cheng, et al.
Journal of Inherited Metabolic Disease
|
May 25, 2011
Combined OXPHOS complex I and IV defect, due to mutated complex I assembly factor C20ORF7
Ann Saada, Shimon Edvardson, Avraham Shaag, et al.
Journal of Medical Genetics
|
October 9, 2012
Two novel CCDC88C mutations confirm the role of DAPLE in autosomal recessive congenital hydrocephalus
Anais Drielsma, Chaim Jalas, Nicolas Simonis, et al.
Journal of Medical Genetics
|
May 22, 2016
Deficiency of HTRA2/Omi is associated with infantile neurodegeneration and 3-methylglutaconic aciduria
Hanna Mandel, Shotaro Saita, Simon Edvardson, et al.
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of 5
Search research articles
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Showing results (11-20 of 49) with videos related to
Sort By:
Page
of 5
Methods in Molecular Biology (Clifton, N.J.)
|
December 4, 2018
Molecular Testing for Preimplantation Genetic Diagnosis of Single Gene Disorders
Rebekah S Zimmerman, Jennifer Eccles, Chaim Jalas, et al.
Molecular Genetics & Genomic Medicine
|
March 25, 2015
Carrier frequencies of eleven mutations in eight genes associated with primary ciliary dyskinesia in the Ashkenazi Jewish population
Anastasia M Fedick, Chaim Jalas, Nathan R Treff, et al.
Annals of Neurology
|
April 24, 2012
Hereditary sensory autonomic neuropathy caused by a mutation in dystonin
Simon Edvardson, Yuval Cinnamon, Chaim Jalas, et al.
Journal of Assisted Reproduction and Genetics
|
August 8, 2014
Improved sensitivity to detect recombination using qPCR for Dyskeratosis Congenita PGD
Ndeye-Aicha Gueye, Chaim Jalas, Xin Tao, et al.
Plos One
|
April 5, 2013
High-throughput carrier screening using TaqMan allelic discrimination
Anastasia Fedick, Jing Su, Chaim Jalas, et al.
HGG Advances
|
April 22, 2025
A variant in RNF212B may contribute to female infertility and recurrent pregnancy loss
Michelle E Darko, Michelle Kappy, Daniel Rabizadeh, et al.
Fertility and Sterility
|
January 4, 2022
The concordance rates of an initial trophectoderm biopsy with the rest of the embryo using PGTseq, a targeted next-generation sequencing platform for preimplantation genetic testing-aneuploidy
Julia Kim, Xin Tao, Michael Cheng, et al.
Journal of Inherited Metabolic Disease
|
May 25, 2011
Combined OXPHOS complex I and IV defect, due to mutated complex I assembly factor C20ORF7
Ann Saada, Shimon Edvardson, Avraham Shaag, et al.
Journal of Medical Genetics
|
October 9, 2012
Two novel CCDC88C mutations confirm the role of DAPLE in autosomal recessive congenital hydrocephalus
Anais Drielsma, Chaim Jalas, Nicolas Simonis, et al.
Journal of Medical Genetics
|
May 22, 2016
Deficiency of HTRA2/Omi is associated with infantile neurodegeneration and 3-methylglutaconic aciduria
Hanna Mandel, Shotaro Saita, Simon Edvardson, et al.
Page
of 5