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Ben Pode-Shakked

Showing results (21-30 of 85) with videos related to

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Prenatal Diagnosis|January 10, 2018
Severe fetal hydronephrosis: the added value of associated congenital anomalies of the kidneys and urinary tract (CAKUT) in the prediction of postnatal outcomeSharon Perlman, Lucia Roitman, Danny Lotan, et al.
Molecular Genetics and Metabolism|May 22, 2012
McArdle disease: a novel mutation in Jewish families from the Caucasus regionYishai Haimi Cohen, Nechama Shalva, Tal Markus-Eidlitz, et al.
Prenatal Diagnosis|September 17, 2016
Prenatal diagnosis of 17q12 deletion syndrome: from fetal hyperechogenic kidneys to high risk for autismYinon Gilboa, Sharon Perlman, Naomi Pode-Shakked, et al.
Annals of Internal Medicine|May 6, 2024
Reversal of Intestinal Failure With Teduglutide in <i>PERCC1</i>-Associated Enteropathy: A Case ReportEmily Stenke, Cara Dunne, Anthea Bryce-Smyth, et al.
European Journal of Medical Genetics|July 15, 2018
Diaphanospondylodysostosis: Refining the prenatal diagnosis of a rare skeletal disorderLior Greenbaum, Yinon Gilboa, Annick Raas-Rothschild, et al.
Clinical Genetics|October 19, 2024
Biallelic PIGM Coding Variant Causes Intractable Epilepsy and Intellectual Disability Without Thrombotic EventsGali Heimer, Ben Pode-Shakked, Dina Marek-Yagel, et al.
Journal of Clinical Immunology|October 14, 2016
A Novel Mutation in a Critical Region for the Methyl Donor Binding in DNMT3B Causes Immunodeficiency, Centromeric Instability, and Facial Anomalies Syndrome (ICF)Erez Rechavi, Atar Lev, Eran Eyal, et al.
Molecular Genetics & Genomic Medicine|April 26, 2019
BRPF1-associated intellectual disability, ptosis, and facial dysmorphism in a multiplex familyNaomi Pode-Shakked, Ortal Barel, Ben Pode-Shakked, et al.
Molecular Syndromology|February 28, 2022
What Can We Learn from the Parents of Children Affected with Mucopolysaccharidosis Type III-A in Israel?Shiri Liber, Orna Staretz-Chacham, Mor Kishon, et al.
Frontiers in Genetics|September 1, 2022
Oculocutaneous albinism and bleeding diathesis due to a novel deletion in the <i>HPS3</i> geneDina Marek-Yagel, Shachar Abudi-Sinreich, Michal Macarov, et al.
Pageof 9

Showing results (21-30 of 85) with videos related to

Sort By:
Pageof 9
Prenatal Diagnosis|January 10, 2018
Severe fetal hydronephrosis: the added value of associated congenital anomalies of the kidneys and urinary tract (CAKUT) in the prediction of postnatal outcomeSharon Perlman, Lucia Roitman, Danny Lotan, et al.
Molecular Genetics and Metabolism|May 22, 2012
McArdle disease: a novel mutation in Jewish families from the Caucasus regionYishai Haimi Cohen, Nechama Shalva, Tal Markus-Eidlitz, et al.
Prenatal Diagnosis|September 17, 2016
Prenatal diagnosis of 17q12 deletion syndrome: from fetal hyperechogenic kidneys to high risk for autismYinon Gilboa, Sharon Perlman, Naomi Pode-Shakked, et al.
Annals of Internal Medicine|May 6, 2024
Reversal of Intestinal Failure With Teduglutide in <i>PERCC1</i>-Associated Enteropathy: A Case ReportEmily Stenke, Cara Dunne, Anthea Bryce-Smyth, et al.
European Journal of Medical Genetics|July 15, 2018
Diaphanospondylodysostosis: Refining the prenatal diagnosis of a rare skeletal disorderLior Greenbaum, Yinon Gilboa, Annick Raas-Rothschild, et al.
Clinical Genetics|October 19, 2024
Biallelic PIGM Coding Variant Causes Intractable Epilepsy and Intellectual Disability Without Thrombotic EventsGali Heimer, Ben Pode-Shakked, Dina Marek-Yagel, et al.
Journal of Clinical Immunology|October 14, 2016
A Novel Mutation in a Critical Region for the Methyl Donor Binding in DNMT3B Causes Immunodeficiency, Centromeric Instability, and Facial Anomalies Syndrome (ICF)Erez Rechavi, Atar Lev, Eran Eyal, et al.
Molecular Genetics & Genomic Medicine|April 26, 2019
BRPF1-associated intellectual disability, ptosis, and facial dysmorphism in a multiplex familyNaomi Pode-Shakked, Ortal Barel, Ben Pode-Shakked, et al.
Molecular Syndromology|February 28, 2022
What Can We Learn from the Parents of Children Affected with Mucopolysaccharidosis Type III-A in Israel?Shiri Liber, Orna Staretz-Chacham, Mor Kishon, et al.
Frontiers in Genetics|September 1, 2022
Oculocutaneous albinism and bleeding diathesis due to a novel deletion in the <i>HPS3</i> geneDina Marek-Yagel, Shachar Abudi-Sinreich, Michal Macarov, et al.
Pageof 9