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NPJ Digital Medicine
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March 29, 2025
Evaluation of the digital genetic assistant in technology assisted genetic counseling for genetic carrier screening
Yuval Yaron, Vered Ofen Glassner, Michal Berkenstadt, et al.
Molecular Genetics & Genomic Medicine
|
February 6, 2014
Two novel mutations identified in familial cases with Donohue syndrome
Tzipora C Falik Zaccai, Limor Kalfon, Aharon Klar, 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 study
Rachel Michaelson-Cohen, Liat Sheelo Salzer, Dana Brabbing-Goldstein, et al.
Journal of Medical Genetics
|
May 8, 2024
Expanded targeted preconception screening panel in Israel: findings and insights
Adi Reches, Vered Ofen Glassner, Nurit Goldstein, et al.
BMJ (Clinical Research Ed.)
|
February 16, 2017
Continuing to deliver: the evidence base for pre-implantation genetic screening
Darren K Griffin, Simon Fishel, Tony Gordon, et al.
Breast Cancer Research and Treatment
|
December 22, 2015
Screening for germline mutations in breast/ovarian cancer susceptibility genes in high-risk families in Israel
Tamar Yablonski-Peretz, Shani Paluch-Shimon, Lior Soussan Gutman, et al.
Human Mutation
|
November 14, 2008
Comprehensive clinical and molecular assessment of 32 probands with congenital contractural arachnodactyly: report of 14 novel mutations and review of the literature
Bert L Callewaert, Bart L Loeys, Anna Ficcadenti, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
September 3, 2010
Carrier testing for spinal muscular atrophy
Jonathan M Gitlin, Kenneth Fischbeck, Thomas O Crawford, et al.
Movement Disorders Clinical Practice
|
June 5, 2025
High Genetic Diagnostic Yield for Patients with Rare Movement Disorders at a Single-Center Neurogenetics Clinic
Dvir Penn, Yam Amir, Gil Ben David, et al.
Prenatal Diagnosis
|
December 6, 2023
Monogenic conditions and central nervous system anomalies: A prospective study, systematic review and meta-analysis
Gillian V Blayney, Eoghan Laffan, Preethi A Jacob, et al.
Page
of 13
Search research articles
Search
Showing results (111-120 of 122) with videos related to
Sort By:
Page
of 13
NPJ Digital Medicine
|
March 29, 2025
Evaluation of the digital genetic assistant in technology assisted genetic counseling for genetic carrier screening
Yuval Yaron, Vered Ofen Glassner, Michal Berkenstadt, et al.
Molecular Genetics & Genomic Medicine
|
February 6, 2014
Two novel mutations identified in familial cases with Donohue syndrome
Tzipora C Falik Zaccai, Limor Kalfon, Aharon Klar, 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 study
Rachel Michaelson-Cohen, Liat Sheelo Salzer, Dana Brabbing-Goldstein, et al.
Journal of Medical Genetics
|
May 8, 2024
Expanded targeted preconception screening panel in Israel: findings and insights
Adi Reches, Vered Ofen Glassner, Nurit Goldstein, et al.
BMJ (Clinical Research Ed.)
|
February 16, 2017
Continuing to deliver: the evidence base for pre-implantation genetic screening
Darren K Griffin, Simon Fishel, Tony Gordon, et al.
Breast Cancer Research and Treatment
|
December 22, 2015
Screening for germline mutations in breast/ovarian cancer susceptibility genes in high-risk families in Israel
Tamar Yablonski-Peretz, Shani Paluch-Shimon, Lior Soussan Gutman, et al.
Human Mutation
|
November 14, 2008
Comprehensive clinical and molecular assessment of 32 probands with congenital contractural arachnodactyly: report of 14 novel mutations and review of the literature
Bert L Callewaert, Bart L Loeys, Anna Ficcadenti, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
September 3, 2010
Carrier testing for spinal muscular atrophy
Jonathan M Gitlin, Kenneth Fischbeck, Thomas O Crawford, et al.
Movement Disorders Clinical Practice
|
June 5, 2025
High Genetic Diagnostic Yield for Patients with Rare Movement Disorders at a Single-Center Neurogenetics Clinic
Dvir Penn, Yam Amir, Gil Ben David, et al.
Prenatal Diagnosis
|
December 6, 2023
Monogenic conditions and central nervous system anomalies: A prospective study, systematic review and meta-analysis
Gillian V Blayney, Eoghan Laffan, Preethi A Jacob, et al.
Page
of 13