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Elizabeth Sweeney

Showing results (51-60 of 59) with videos related to

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Genetics in Medicine Open|June 16, 2025
Identification and characterization of short-chain dehydrogenase/reductase 3 (DHRS3) deficiency, a retinoic acid embryopathy of humansAkiko Soneda Hashimoto, Jianshi Yu, Christina Williams, 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|April 8, 2014
De novo CCND2 mutations leading to stabilization of cyclin D2 cause megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndromeGhayda Mirzaa, David A Parry, Andrew E Fry, et al.
Scientific Reports|September 14, 2018
Objective Evaluation of Multiple Sclerosis Lesion Segmentation using a Data Management and Processing InfrastructureOlivier Commowick, Audrey Istace, Michaël Kain, 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.
The Journal of Clinical Endocrinology and Metabolism|December 14, 2011
Genotype-phenotype analysis in congenital adrenal hyperplasia due to P450 oxidoreductase deficiencyNils Krone, Nicole Reisch, Jan Idkowiak, et al.
Genetics in Medicine Open|September 30, 2024
Regulatory elements in <i>SEM1-DLX5-DLX6</i> (7q21.3) locus contribute to genetic control of coronal nonsyndromic craniosynostosis and bone density-related traitsPaola Nicoletti, Samreen Zafer, Lital Matok, et al.
Nature Genetics|May 19, 2015
Factors influencing success of clinical genome sequencing across a broad spectrum of disordersJenny C Taylor, Hilary C Martin, Stefano Lise, et al.
Pageof 6

Showing results (51-60 of 59) with videos related to

Sort By:
Pageof 6
You have reached the last page of results.This site can display upto 59 results.
Genetics in Medicine Open|June 16, 2025
Identification and characterization of short-chain dehydrogenase/reductase 3 (DHRS3) deficiency, a retinoic acid embryopathy of humansAkiko Soneda Hashimoto, Jianshi Yu, Christina Williams, 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|April 8, 2014
De novo CCND2 mutations leading to stabilization of cyclin D2 cause megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndromeGhayda Mirzaa, David A Parry, Andrew E Fry, et al.
Scientific Reports|September 14, 2018
Objective Evaluation of Multiple Sclerosis Lesion Segmentation using a Data Management and Processing InfrastructureOlivier Commowick, Audrey Istace, Michaël Kain, 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.
The Journal of Clinical Endocrinology and Metabolism|December 14, 2011
Genotype-phenotype analysis in congenital adrenal hyperplasia due to P450 oxidoreductase deficiencyNils Krone, Nicole Reisch, Jan Idkowiak, et al.
Genetics in Medicine Open|September 30, 2024
Regulatory elements in <i>SEM1-DLX5-DLX6</i> (7q21.3) locus contribute to genetic control of coronal nonsyndromic craniosynostosis and bone density-related traitsPaola Nicoletti, Samreen Zafer, Lital Matok, et al.
Nature Genetics|May 19, 2015
Factors influencing success of clinical genome sequencing across a broad spectrum of disordersJenny C Taylor, Hilary C Martin, Stefano Lise, et al.
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