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Journal of the American Society of Nephrology : JASN
|
October 6, 2020
Biallelic Pathogenic <i>GFRA1</i> Variants Cause Autosomal Recessive Bilateral Renal Agenesis
Veronica Arora, Suliman Khan, Ayman W El-Hattab, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
August 14, 2018
Development of an evidence-based algorithm that optimizes sensitivity and specificity in ES-based diagnostics of a clinically heterogeneous patient population
Peter Bauer, Krishna Kumar Kandaswamy, Maximilian E R Weiss, et al.
BMC Developmental Biology
|
October 21, 2011
Identification of RNA binding motif proteins essential for cardiovascular development
Samantha Maragh, Ronald A Miller, Seneca L Bessling, et al.
Journal of the American Society of Nephrology : JASN
|
February 1, 2008
ROBO2 gene variants are associated with familial vesicoureteral reflux
Aida M Bertoli-Avella, Maria Luisa Conte, Francesca Punzo, et al.
Applied and Environmental Microbiology
|
November 25, 2010
Genomic and functional analyses of Rhodococcus equi phages ReqiPepy6, ReqiPoco6, ReqiPine5, and ReqiDocB7
E J Summer, M Liu, J J Gill, et al.
Rheumatology (Oxford, England)
|
August 2, 2006
Predictors of post-partum damage accrual in systemic lupus erythematosus: data from LUMINA, a multiethnic US cohort (XXXVIII)
R M Andrade, G McGwin, G S Alarcón, et al.
Parkinsonism & Related Disorders
|
June 7, 2016
Impulse control disorder in PD: A lateralized monoaminergic frontostriatal disconnection syndrome?
E Premi, A Pilotto, V Garibotto, et al.
European Journal of Human Genetics : EJHG
|
January 27, 2025
Beyond genomics: using RNA-seq from dried blood spots to unlock the clinical relevance of splicing variation in a diagnostic setting
Aida M Bertoli-Avella, Mandy Radefeldt, Ruslan Al-Ali, et al.
Journal of Human Genetics
|
March 27, 2018
Correction: Broadening the phenotypic spectrum of pathogenic LARP7 variants: two cases with intellectual disability, variable growth retardation and distinct facial features
Iris H I M Hollink, Majid Alfadhel, Anwar S Al-Wakeel, et al.
European Journal of Human Genetics : EJHG
|
February 19, 2004
Polymorphisms in the prion protein gene and in the doppel gene increase susceptibility for Creutzfeldt-Jakob disease
Esther A Croes, Behrooz Z Alizadeh, Aida M Bertoli-Avella, et al.
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of 17
Search research articles
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Showing results (91-100 of 168) with videos related to
Sort By:
Page
of 17
Journal of the American Society of Nephrology : JASN
|
October 6, 2020
Biallelic Pathogenic <i>GFRA1</i> Variants Cause Autosomal Recessive Bilateral Renal Agenesis
Veronica Arora, Suliman Khan, Ayman W El-Hattab, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
August 14, 2018
Development of an evidence-based algorithm that optimizes sensitivity and specificity in ES-based diagnostics of a clinically heterogeneous patient population
Peter Bauer, Krishna Kumar Kandaswamy, Maximilian E R Weiss, et al.
BMC Developmental Biology
|
October 21, 2011
Identification of RNA binding motif proteins essential for cardiovascular development
Samantha Maragh, Ronald A Miller, Seneca L Bessling, et al.
Journal of the American Society of Nephrology : JASN
|
February 1, 2008
ROBO2 gene variants are associated with familial vesicoureteral reflux
Aida M Bertoli-Avella, Maria Luisa Conte, Francesca Punzo, et al.
Applied and Environmental Microbiology
|
November 25, 2010
Genomic and functional analyses of Rhodococcus equi phages ReqiPepy6, ReqiPoco6, ReqiPine5, and ReqiDocB7
E J Summer, M Liu, J J Gill, et al.
Rheumatology (Oxford, England)
|
August 2, 2006
Predictors of post-partum damage accrual in systemic lupus erythematosus: data from LUMINA, a multiethnic US cohort (XXXVIII)
R M Andrade, G McGwin, G S Alarcón, et al.
Parkinsonism & Related Disorders
|
June 7, 2016
Impulse control disorder in PD: A lateralized monoaminergic frontostriatal disconnection syndrome?
E Premi, A Pilotto, V Garibotto, et al.
European Journal of Human Genetics : EJHG
|
January 27, 2025
Beyond genomics: using RNA-seq from dried blood spots to unlock the clinical relevance of splicing variation in a diagnostic setting
Aida M Bertoli-Avella, Mandy Radefeldt, Ruslan Al-Ali, et al.
Journal of Human Genetics
|
March 27, 2018
Correction: Broadening the phenotypic spectrum of pathogenic LARP7 variants: two cases with intellectual disability, variable growth retardation and distinct facial features
Iris H I M Hollink, Majid Alfadhel, Anwar S Al-Wakeel, et al.
European Journal of Human Genetics : EJHG
|
February 19, 2004
Polymorphisms in the prion protein gene and in the doppel gene increase susceptibility for Creutzfeldt-Jakob disease
Esther A Croes, Behrooz Z Alizadeh, Aida M Bertoli-Avella, et al.
Page
of 17