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American Journal of Medical Genetics. Part A
|
February 8, 2017
Childhood cancer predisposition syndromes-A concise review and recommendations by the Cancer Predisposition Working Group of the Society for Pediatric Oncology and Hematology
Tim Ripperger, Stefan S Bielack, Arndt Borkhardt, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
January 5, 2018
Phenotype and genotype of 87 patients with Mowat-Wilson syndrome and recommendations for care
Ivan Ivanovski, Olivera Djuric, Stefano Giuseppe Caraffi, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
February 15, 2025
AUTS2-related syndrome: Insights from a large European cohort
Lorenzo Loberti, Loredaria Adamo, Enrica Antolini, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
September 29, 2018
Correction: The landscape of epilepsy-related GATOR1 variants
Sara Baldassari, Fabienne Picard, Nienke E Verbeek, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
August 11, 2018
The landscape of epilepsy-related GATOR1 variants
Sara Baldassari, Fabienne Picard, Nienke E Verbeek, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
August 31, 2018
Correction to: The landscape of epilepsy-related GATOR1 variants
Sara Baldassari, Fabienne Picard, Nienke E Verbeek, et al.
Brain : a Journal of Neurology
|
November 15, 2025
The genotypic and phenotypic landscape of PDHA1-related pyruvate dehydrogenase complex deficiency
Kajus Merkevicius, Dmitrii Smirnov, Lea D Schlieben, et al.
Nature Genetics
|
August 15, 2017
Mutations in KEOPS-complex genes cause nephrotic syndrome with primary microcephaly
Daniela A Braun, Jia Rao, Geraldine Mollet, et al.
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Search research articles
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Showing results (331-340 of 338) with videos related to
Sort By:
Page
of 34
You have reached the last page of results.
This site can display upto 338 results.
American Journal of Medical Genetics. Part A
|
February 8, 2017
Childhood cancer predisposition syndromes-A concise review and recommendations by the Cancer Predisposition Working Group of the Society for Pediatric Oncology and Hematology
Tim Ripperger, Stefan S Bielack, Arndt Borkhardt, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
January 5, 2018
Phenotype and genotype of 87 patients with Mowat-Wilson syndrome and recommendations for care
Ivan Ivanovski, Olivera Djuric, Stefano Giuseppe Caraffi, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
February 15, 2025
AUTS2-related syndrome: Insights from a large European cohort
Lorenzo Loberti, Loredaria Adamo, Enrica Antolini, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
September 29, 2018
Correction: The landscape of epilepsy-related GATOR1 variants
Sara Baldassari, Fabienne Picard, Nienke E Verbeek, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
August 11, 2018
The landscape of epilepsy-related GATOR1 variants
Sara Baldassari, Fabienne Picard, Nienke E Verbeek, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
August 31, 2018
Correction to: The landscape of epilepsy-related GATOR1 variants
Sara Baldassari, Fabienne Picard, Nienke E Verbeek, et al.
Brain : a Journal of Neurology
|
November 15, 2025
The genotypic and phenotypic landscape of PDHA1-related pyruvate dehydrogenase complex deficiency
Kajus Merkevicius, Dmitrii Smirnov, Lea D Schlieben, et al.
Nature Genetics
|
August 15, 2017
Mutations in KEOPS-complex genes cause nephrotic syndrome with primary microcephaly
Daniela A Braun, Jia Rao, Geraldine Mollet, et al.
Page
of 34