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European Journal of Medical Genetics
|
April 11, 2017
Elucidating the behavioral phenotype of patients affected with mucolipidosis IV: What can we learn from the parents?
Perri Segal, Ben Pode-Shakked, Annick Raas-Rothschild
Fetal and Pediatric Pathology
|
October 17, 2015
Clinical Variability in a Family with an Ectodermal Dysplasia Syndrome and a Nonsense Mutation in the TP63 Gene
Arik Eisenkraft, Ben Pode-Shakked, Nurit Goldstein, et al.
Fetal and Pediatric Pathology
|
December 17, 2013
Waterhouse Friderichsen syndrome complicating fulminant Enterobacter cloacae sepsis in a preterm infant: the unresolved issue of corticosteroids
Ben Pode-Shakked, Tal Sadeh-Vered, Dvora Kidron, et al.
Molecular Genetics and Metabolism
|
November 10, 2010
The GALT rush: high carrier frequency of an unusual deletion mutation of the GALT gene in the Ashkenazi population
Nurit Goldstein, Yoram Cohen, Ben Pode-Shakked, et al.
Journal of Pediatric Gastroenterology and Nutrition
|
September 20, 2013
Bitterness of glucose/galactose: novel mutations in the SLC5A1 gene
Ben Pode-Shakked, Orit Reish, Cigdem Aktuglu-Zeybek, et al.
Genes
|
August 27, 2021
Multiple Acyl-CoA Dehydrogenase Deficiency with Variable Presentation Due to a Homozygous Mutation in a Bedouin Tribe
Orna Staretz-Chacham, Shirly Amar, Shlomo Almashanu, et al.
Clinical Genetics
|
November 10, 2025
Impact of Growth Hormone Treatment in Children From an Extended Family With ACAN -Related Short Stature
Einat Shalev-Goldman, Ayman Asaly, Hadas Ityel, et al.
European Journal of Medical Genetics
|
April 17, 2020
Shared facial phenotype of patients with mucolipidosis type IV: A clinical observation reaffirmed by next generation phenotyping
Ben Pode-Shakked, Yael Finezilber, Yonit Levi, et al.
European Journal of Medical Genetics
|
April 27, 2018
Phenotype variability in Hajdu-Cheney syndrome
Miriam Regev, Ben Pode-Shakked, Jeffrey M Jacobson, et al.
Acta Haematologica
|
September 27, 2020
Severe Protein C Deficiency due to Novel Biallelic Variants in PROC and Their Phenotype Correlation
Assaf A Barg, Rima Dardik, Carina Levin, et al.
Page
of 9
Search research articles
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Showing results (1-10 of 85) with videos related to
Sort By:
Page
of 9
European Journal of Medical Genetics
|
April 11, 2017
Elucidating the behavioral phenotype of patients affected with mucolipidosis IV: What can we learn from the parents?
Perri Segal, Ben Pode-Shakked, Annick Raas-Rothschild
Fetal and Pediatric Pathology
|
October 17, 2015
Clinical Variability in a Family with an Ectodermal Dysplasia Syndrome and a Nonsense Mutation in the TP63 Gene
Arik Eisenkraft, Ben Pode-Shakked, Nurit Goldstein, et al.
Fetal and Pediatric Pathology
|
December 17, 2013
Waterhouse Friderichsen syndrome complicating fulminant Enterobacter cloacae sepsis in a preterm infant: the unresolved issue of corticosteroids
Ben Pode-Shakked, Tal Sadeh-Vered, Dvora Kidron, et al.
Molecular Genetics and Metabolism
|
November 10, 2010
The GALT rush: high carrier frequency of an unusual deletion mutation of the GALT gene in the Ashkenazi population
Nurit Goldstein, Yoram Cohen, Ben Pode-Shakked, et al.
Journal of Pediatric Gastroenterology and Nutrition
|
September 20, 2013
Bitterness of glucose/galactose: novel mutations in the SLC5A1 gene
Ben Pode-Shakked, Orit Reish, Cigdem Aktuglu-Zeybek, et al.
Genes
|
August 27, 2021
Multiple Acyl-CoA Dehydrogenase Deficiency with Variable Presentation Due to a Homozygous Mutation in a Bedouin Tribe
Orna Staretz-Chacham, Shirly Amar, Shlomo Almashanu, et al.
Clinical Genetics
|
November 10, 2025
Impact of Growth Hormone Treatment in Children From an Extended Family With ACAN -Related Short Stature
Einat Shalev-Goldman, Ayman Asaly, Hadas Ityel, et al.
European Journal of Medical Genetics
|
April 17, 2020
Shared facial phenotype of patients with mucolipidosis type IV: A clinical observation reaffirmed by next generation phenotyping
Ben Pode-Shakked, Yael Finezilber, Yonit Levi, et al.
European Journal of Medical Genetics
|
April 27, 2018
Phenotype variability in Hajdu-Cheney syndrome
Miriam Regev, Ben Pode-Shakked, Jeffrey M Jacobson, et al.
Acta Haematologica
|
September 27, 2020
Severe Protein C Deficiency due to Novel Biallelic Variants in PROC and Their Phenotype Correlation
Assaf A Barg, Rima Dardik, Carina Levin, et al.
Page
of 9