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American Journal of Medical Genetics. Part A
|
September 26, 2017
De novo mutations in HNRNPU result in a neurodevelopmental syndrome
T Michael Yates, Pradeep C Vasudevan, Kate E Chandler, et al.
The Journal of Biological Chemistry
|
January 5, 1999
Phospholipase D and its product, phosphatidic acid, mediate agonist-dependent raf-1 translocation to the plasma membrane and the activation of the mitogen-activated protein kinase pathway
Megan A Rizzo, K Shome, C Vasudevan, et al.
European Journal of Human Genetics : EJHG
|
April 28, 2006
Expanding the phenotype of craniofrontonasal syndrome: two unrelated boys with EFNB1 mutations and congenital diaphragmatic hernia
Pradeep C Vasudevan, Stephen R F Twigg, John B Mulliken, et al.
Epilepsy Research
|
August 15, 2018
Corrigendum to "Childhood-onset generalized epilepsy in Bainbridge-Ropers syndrome" [Epilepsy Res. 140 (2018) 166-170]
Kenneth A Myers, Susan M White, Shehla Mohammed, et al.
Epilepsy Research
|
January 26, 2018
Childhood-onset generalized epilepsy in Bainbridge-Ropers syndrome
Kenneth A Myers, Susan M White, Shehla Mohammed, et al.
Acta Paediatrica (Oslo, Norway : 1992)
|
April 5, 2018
Retinopathy of prematurity screening at ≥30 weeks: urinary NTpro-BNP performance
J E Berrington, P Clarke, N D Embleton, et al.
Genome Research
|
September 1, 2017
Detection of structural mosaicism from targeted and whole-genome sequencing data
Daniel A King, Alejandro Sifrim, Tomas W Fitzgerald, et al.
European Journal of Human Genetics : EJHG
|
February 18, 2011
Metopic and sagittal synostosis in Greig cephalopolysyndactyly syndrome: five cases with intragenic mutations or complete deletions of GLI3
Jane A Hurst, Dagan Jenkins, Pradeep C Vasudevan, et al.
NPJ Genomic Medicine
|
May 19, 2026
Whole-genome sequencing uncovers diverse genetic causes and phenotypic signatures in infantile nystagmus and albinism
Mahmoud R Fassad, Pradeep C Vasudevan, Julian Barwell, et al.
American Journal of Medical Genetics. Part A
|
June 17, 2015
De novo, heterozygous, loss-of-function mutations in SYNGAP1 cause a syndromic form of intellectual disability
Michael J Parker, Alan E Fryer, Deborah J Shears, et al.
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of 9
Search research articles
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Showing results (61-70 of 81) with videos related to
Sort By:
Page
of 9
American Journal of Medical Genetics. Part A
|
September 26, 2017
De novo mutations in HNRNPU result in a neurodevelopmental syndrome
T Michael Yates, Pradeep C Vasudevan, Kate E Chandler, et al.
The Journal of Biological Chemistry
|
January 5, 1999
Phospholipase D and its product, phosphatidic acid, mediate agonist-dependent raf-1 translocation to the plasma membrane and the activation of the mitogen-activated protein kinase pathway
Megan A Rizzo, K Shome, C Vasudevan, et al.
European Journal of Human Genetics : EJHG
|
April 28, 2006
Expanding the phenotype of craniofrontonasal syndrome: two unrelated boys with EFNB1 mutations and congenital diaphragmatic hernia
Pradeep C Vasudevan, Stephen R F Twigg, John B Mulliken, et al.
Epilepsy Research
|
August 15, 2018
Corrigendum to "Childhood-onset generalized epilepsy in Bainbridge-Ropers syndrome" [Epilepsy Res. 140 (2018) 166-170]
Kenneth A Myers, Susan M White, Shehla Mohammed, et al.
Epilepsy Research
|
January 26, 2018
Childhood-onset generalized epilepsy in Bainbridge-Ropers syndrome
Kenneth A Myers, Susan M White, Shehla Mohammed, et al.
Acta Paediatrica (Oslo, Norway : 1992)
|
April 5, 2018
Retinopathy of prematurity screening at ≥30 weeks: urinary NTpro-BNP performance
J E Berrington, P Clarke, N D Embleton, et al.
Genome Research
|
September 1, 2017
Detection of structural mosaicism from targeted and whole-genome sequencing data
Daniel A King, Alejandro Sifrim, Tomas W Fitzgerald, et al.
European Journal of Human Genetics : EJHG
|
February 18, 2011
Metopic and sagittal synostosis in Greig cephalopolysyndactyly syndrome: five cases with intragenic mutations or complete deletions of GLI3
Jane A Hurst, Dagan Jenkins, Pradeep C Vasudevan, et al.
NPJ Genomic Medicine
|
May 19, 2026
Whole-genome sequencing uncovers diverse genetic causes and phenotypic signatures in infantile nystagmus and albinism
Mahmoud R Fassad, Pradeep C Vasudevan, Julian Barwell, et al.
American Journal of Medical Genetics. Part A
|
June 17, 2015
De novo, heterozygous, loss-of-function mutations in SYNGAP1 cause a syndromic form of intellectual disability
Michael J Parker, Alan E Fryer, Deborah J Shears, et al.
Page
of 9