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Steven A Wall

Showing results (61-70 of 72) with videos related to

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Human Molecular Genetics|January 22, 2013
Cellular interference in craniofrontonasal syndrome: males mosaic for mutations in the X-linked EFNB1 gene are more severely affected than true hemizygotesStephen R F Twigg, Christian Babbs, Marijke E P van den Elzen, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 6, 2020
SMAD6 variants in craniosynostosis: genotype and phenotype evaluationEduardo Calpena, Araceli Cuellar, Krithi Bala, et al.
Nature Genetics|January 29, 2013
Reduced dosage of ERF causes complex craniosynostosis in humans and mice and links ERK1/2 signaling to regulation of osteogenesisStephen R F Twigg, Elena Vorgia, Simon J McGowan, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 8, 2023
Pathogenic variants in the paired-related homeobox 1 gene (PRRX1) cause craniosynostosis with incomplete penetranceRebecca S Tooze, Kerry A Miller, Sigrid M A Swagemakers, et al.
Nature Genetics|January 29, 2013
Mutations in TCF12, encoding a basic helix-loop-helix partner of TWIST1, are a frequent cause of coronal craniosynostosisVikram P Sharma, Aimée L Fenwick, Mia S Brockop, et al.
Journal of Medical Genetics|November 26, 2016
Diagnostic value of exome and whole genome sequencing in craniosynostosisKerry A Miller, Stephen R F Twigg, Simon J McGowan, et al.
Nature Genetics|November 20, 2012
A genome-wide association study identifies susceptibility loci for nonsyndromic sagittal craniosynostosis near BMP2 and within BBS9Cristina M Justice, Garima Yagnik, Yoonhee Kim, et al.
American Journal of Human Genetics|July 5, 2016
Mutations in CDC45, Encoding an Essential Component of the Pre-initiation Complex, Cause Meier-Gorlin Syndrome and CraniosynostosisAimee L Fenwick, Maciej Kliszczak, Fay Cooper, et al.
Human Genetics|April 9, 2020
A genome-wide association study implicates the BMP7 locus as a risk factor for nonsyndromic metopic craniosynostosisCristina M Justice, Araceli Cuellar, Krithi Bala, et al.
American Journal of Human Genetics|June 5, 2018
De Novo and Inherited Loss-of-Function Variants in TLK2: Clinical and Genotype-Phenotype Evaluation of a Distinct Neurodevelopmental DisorderMargot R F Reijnders, Kerry A Miller, Mohsan Alvi, et al.
Pageof 8

Showing results (61-70 of 72) with videos related to

Sort By:
Pageof 8
Human Molecular Genetics|January 22, 2013
Cellular interference in craniofrontonasal syndrome: males mosaic for mutations in the X-linked EFNB1 gene are more severely affected than true hemizygotesStephen R F Twigg, Christian Babbs, Marijke E P van den Elzen, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 6, 2020
SMAD6 variants in craniosynostosis: genotype and phenotype evaluationEduardo Calpena, Araceli Cuellar, Krithi Bala, et al.
Nature Genetics|January 29, 2013
Reduced dosage of ERF causes complex craniosynostosis in humans and mice and links ERK1/2 signaling to regulation of osteogenesisStephen R F Twigg, Elena Vorgia, Simon J McGowan, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 8, 2023
Pathogenic variants in the paired-related homeobox 1 gene (PRRX1) cause craniosynostosis with incomplete penetranceRebecca S Tooze, Kerry A Miller, Sigrid M A Swagemakers, et al.
Nature Genetics|January 29, 2013
Mutations in TCF12, encoding a basic helix-loop-helix partner of TWIST1, are a frequent cause of coronal craniosynostosisVikram P Sharma, Aimée L Fenwick, Mia S Brockop, et al.
Journal of Medical Genetics|November 26, 2016
Diagnostic value of exome and whole genome sequencing in craniosynostosisKerry A Miller, Stephen R F Twigg, Simon J McGowan, et al.
Nature Genetics|November 20, 2012
A genome-wide association study identifies susceptibility loci for nonsyndromic sagittal craniosynostosis near BMP2 and within BBS9Cristina M Justice, Garima Yagnik, Yoonhee Kim, et al.
American Journal of Human Genetics|July 5, 2016
Mutations in CDC45, Encoding an Essential Component of the Pre-initiation Complex, Cause Meier-Gorlin Syndrome and CraniosynostosisAimee L Fenwick, Maciej Kliszczak, Fay Cooper, et al.
Human Genetics|April 9, 2020
A genome-wide association study implicates the BMP7 locus as a risk factor for nonsyndromic metopic craniosynostosisCristina M Justice, Araceli Cuellar, Krithi Bala, et al.
American Journal of Human Genetics|June 5, 2018
De Novo and Inherited Loss-of-Function Variants in TLK2: Clinical and Genotype-Phenotype Evaluation of a Distinct Neurodevelopmental DisorderMargot R F Reijnders, Kerry A Miller, Mohsan Alvi, et al.
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