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American Journal of Medical Genetics. Part A
|
August 26, 2021
Deep intronic variant in the ARSB gene as the genetic cause for Maroteaux-Lamy syndrome (MPS VI)
Dina Marek-Yagel, Aviva Eliyahu, Alvit Veber, et al.
Pediatric Nephrology (Berlin, Germany)
|
April 20, 2019
Dominant PAX2 mutations may cause steroid-resistant nephrotic syndrome and FSGS in children
Asaf Vivante, Orna Staretz Chacham, Shirlee Shril, et al.
Clinical Genetics
|
November 7, 2025
Detection of the Heterozygous Recurrent MAX p.(Arg60Gln) Variant in Two Females Confirms and Expands the Phenotypic Spectrum of Polydactyly-Macrocephaly Syndrome
Iftekhar A Showpnil, Neta Feinstein-Goren, Lior Greenbaum, et al.
Journal of Inherited Metabolic Disease
|
July 23, 2024
The natural history of dihydrolipoamide dehydrogenase deficiency in Israel
Ben Pode-Shakked, Yuval E Landau, Nava Shaul Lotan, et al.
BMC Medical Genetics
|
March 30, 2019
Progressive Pseudorheumatoid Dysplasia resolved by whole exome sequencing: a novel mutation in WISP3 and review of the literature
Ben Pode-Shakked, Asaf Vivante, Ortal Barel, et al.
Human Genetics
|
September 8, 2022
Nonsense mutation in the novel PERCC1 gene as a genetic cause of congenital diarrhea and enteropathy
Dina Marek-Yagel, Emily Stenke, Ben Pode-Shakked, et al.
American Journal of Human Genetics
|
March 21, 2017
Mutations in TMEM260 Cause a Pediatric Neurodevelopmental, Cardiac, and Renal Syndrome
Asaf Ta-Shma, Tahir N Khan, Asaf Vivante, et al.
American Journal of Medical Genetics. Part A
|
August 25, 2019
Novel homozygous ENPP1 mutation causes generalized arterial calcifications of infancy, thrombocytopenia, and cardiovascular and central nervous system syndrome
Orna Staretz-Chacham, Rachel Shukrun, Ortal Barel, et al.
American Journal of Medical Genetics. Part A
|
March 8, 2020
A founder truncating variant in GDF1 causes autosomal-recessive right isomerism and associated congenital heart defects in multiplex Arab kindreds
Dina Marek-Yagel, Yoav Bolkier, Ortal Barel, et al.
The Journal of Biological Chemistry
|
June 27, 2012
A dominant negative heterozygous G87R mutation in the zinc transporter, ZnT-2 (SLC30A2), results in transient neonatal zinc deficiency
Inbal Lasry, Young Ah Seo, Hadas Ityel, et al.
Page
of 9
Search research articles
Search
Showing results (31-40 of 85) with videos related to
Sort By:
Page
of 9
American Journal of Medical Genetics. Part A
|
August 26, 2021
Deep intronic variant in the ARSB gene as the genetic cause for Maroteaux-Lamy syndrome (MPS VI)
Dina Marek-Yagel, Aviva Eliyahu, Alvit Veber, et al.
Pediatric Nephrology (Berlin, Germany)
|
April 20, 2019
Dominant PAX2 mutations may cause steroid-resistant nephrotic syndrome and FSGS in children
Asaf Vivante, Orna Staretz Chacham, Shirlee Shril, et al.
Clinical Genetics
|
November 7, 2025
Detection of the Heterozygous Recurrent MAX p.(Arg60Gln) Variant in Two Females Confirms and Expands the Phenotypic Spectrum of Polydactyly-Macrocephaly Syndrome
Iftekhar A Showpnil, Neta Feinstein-Goren, Lior Greenbaum, et al.
Journal of Inherited Metabolic Disease
|
July 23, 2024
The natural history of dihydrolipoamide dehydrogenase deficiency in Israel
Ben Pode-Shakked, Yuval E Landau, Nava Shaul Lotan, et al.
BMC Medical Genetics
|
March 30, 2019
Progressive Pseudorheumatoid Dysplasia resolved by whole exome sequencing: a novel mutation in WISP3 and review of the literature
Ben Pode-Shakked, Asaf Vivante, Ortal Barel, et al.
Human Genetics
|
September 8, 2022
Nonsense mutation in the novel PERCC1 gene as a genetic cause of congenital diarrhea and enteropathy
Dina Marek-Yagel, Emily Stenke, Ben Pode-Shakked, et al.
American Journal of Human Genetics
|
March 21, 2017
Mutations in TMEM260 Cause a Pediatric Neurodevelopmental, Cardiac, and Renal Syndrome
Asaf Ta-Shma, Tahir N Khan, Asaf Vivante, et al.
American Journal of Medical Genetics. Part A
|
August 25, 2019
Novel homozygous ENPP1 mutation causes generalized arterial calcifications of infancy, thrombocytopenia, and cardiovascular and central nervous system syndrome
Orna Staretz-Chacham, Rachel Shukrun, Ortal Barel, et al.
American Journal of Medical Genetics. Part A
|
March 8, 2020
A founder truncating variant in GDF1 causes autosomal-recessive right isomerism and associated congenital heart defects in multiplex Arab kindreds
Dina Marek-Yagel, Yoav Bolkier, Ortal Barel, et al.
The Journal of Biological Chemistry
|
June 27, 2012
A dominant negative heterozygous G87R mutation in the zinc transporter, ZnT-2 (SLC30A2), results in transient neonatal zinc deficiency
Inbal Lasry, Young Ah Seo, Hadas Ityel, et al.
Page
of 9