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Aviva Eliyahu

Showing results (11-20 of 22) with videos related to

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Frontiers in Genetics|January 26, 2023
Clinical impact of exome sequencing in the setting of a general pediatric ward for hospitalized children with suspected genetic disordersMaayan Kagan, Rotem Semo-Oz, Yishay Ben Moshe, et al.
Journal of Medical Genetics|July 3, 2021
Whole-exome sequencing reveals a monogenic cause in 56% of individuals with laterality disorders and associated congenital heart defectsYoav Bolkier, Ortal Barel, Dina Marek-Yagel, et al.
HGG Advances|August 25, 2024
LARP1 haploinsufficiency is associated with an autosomal dominant neurodevelopmental disorderJames Chettle, Raymond J Louie, Olivia Larner, et al.
American Journal of Kidney Diseases : the Official Journal of the National Kidney Foundation|September 17, 2023
Genetic Markers Among the Israeli Druze Minority Population With End-Stage Kidney DiseaseOmer Shlomovitz, Danit Atias-Varon, Dina Yagel, et al.
EMBO Molecular Medicine|April 4, 2023
Pathological variants in TOP3A cause distinct disorders of mitochondrial and nuclear genome stabilityDirenis Erdinc, Alejandro Rodríguez-Luis, Mahmoud R Fassad, et al.
Scientific Reports|September 28, 2021
A single center experience with publicly funded clinical exome sequencing for neurodevelopmental disorders or multiple congenital anomaliesBen Pode-Shakked, Ortal Barel, Amihood Singer, et al.
Pediatric Nephrology (Berlin, Germany)|January 7, 2022
A multidisciplinary nephrogenetic referral clinic for children and adults-diagnostic achievements and insightsBen Pode-Shakked, Yishay Ben-Moshe, Ortal Barel, et al.
American Journal of Human Genetics|July 16, 2020
The Genetic Landscape and Epidemiology of PhenylketonuriaAlicia Hillert, Yair Anikster, Amaya Belanger-Quintana, et al.
JAMA Network Open|February 22, 2024
National Rapid Genome Sequencing in Neonatal Intensive CareDaphna Marom, Adi Mory, Sivan Reytan-Miron, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 24, 2021
Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestationsLance H Rodan, Rebecca C Spillmann, Harley T Kurata, et al.
Pageof 3

Showing results (11-20 of 22) with videos related to

Sort By:
Pageof 3
Frontiers in Genetics|January 26, 2023
Clinical impact of exome sequencing in the setting of a general pediatric ward for hospitalized children with suspected genetic disordersMaayan Kagan, Rotem Semo-Oz, Yishay Ben Moshe, et al.
Journal of Medical Genetics|July 3, 2021
Whole-exome sequencing reveals a monogenic cause in 56% of individuals with laterality disorders and associated congenital heart defectsYoav Bolkier, Ortal Barel, Dina Marek-Yagel, et al.
HGG Advances|August 25, 2024
LARP1 haploinsufficiency is associated with an autosomal dominant neurodevelopmental disorderJames Chettle, Raymond J Louie, Olivia Larner, et al.
American Journal of Kidney Diseases : the Official Journal of the National Kidney Foundation|September 17, 2023
Genetic Markers Among the Israeli Druze Minority Population With End-Stage Kidney DiseaseOmer Shlomovitz, Danit Atias-Varon, Dina Yagel, et al.
EMBO Molecular Medicine|April 4, 2023
Pathological variants in TOP3A cause distinct disorders of mitochondrial and nuclear genome stabilityDirenis Erdinc, Alejandro Rodríguez-Luis, Mahmoud R Fassad, et al.
Scientific Reports|September 28, 2021
A single center experience with publicly funded clinical exome sequencing for neurodevelopmental disorders or multiple congenital anomaliesBen Pode-Shakked, Ortal Barel, Amihood Singer, et al.
Pediatric Nephrology (Berlin, Germany)|January 7, 2022
A multidisciplinary nephrogenetic referral clinic for children and adults-diagnostic achievements and insightsBen Pode-Shakked, Yishay Ben-Moshe, Ortal Barel, et al.
American Journal of Human Genetics|July 16, 2020
The Genetic Landscape and Epidemiology of PhenylketonuriaAlicia Hillert, Yair Anikster, Amaya Belanger-Quintana, et al.
JAMA Network Open|February 22, 2024
National Rapid Genome Sequencing in Neonatal Intensive CareDaphna Marom, Adi Mory, Sivan Reytan-Miron, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 24, 2021
Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestationsLance H Rodan, Rebecca C Spillmann, Harley T Kurata, et al.
Pageof 3