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Pedro A Sanchez

Showing results (81-90 of 100) with videos related to

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Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research|November 28, 2025
Evidence-based classification of genes implicated in skeletal disorders using the ClinGen curation frameworkRyan F Webb, Hannah McCurry, Amanda Girod, et al.
The Journal of Clinical Endocrinology and Metabolism|November 22, 2016
Clinical Characterization of Patients With Autosomal Dominant Short Stature due to Aggrecan MutationsAlexandra Gkourogianni, Melissa Andrew, Leah Tyzinski, et al.
American Journal of Medical Genetics. Part A|July 31, 2019
Phenotype delineation of ZNF462 related syndromePaul Kruszka, Tommy Hu, Sungkook Hong, et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics|November 14, 2019
The CHD8 overgrowth syndrome: A detailed evaluation of an emerging overgrowth phenotype in 27 patientsPhilip J Ostrowski, Anna Zachariou, Chey Loveday, et al.
American Journal of Medical Genetics. Part A|March 16, 2013
Investigation of NRXN1 deletions: clinical and molecular characterizationMindy Preston Dabell, Jill A Rosenfeld, Patricia Bader, 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.
Ebiomedicine|April 25, 2025
Artificial intelligence-driven genotype-epigenotype-phenotype approaches to resolve challenges in syndrome diagnosticsChristopher C Y Mak, Hannah Klinkhammer, Sanaa Choufani, et al.
NPJ Genomic Medicine|August 23, 2018
An integrated clinical program and crowdsourcing strategy for genomic sequencing and Mendelian disease gene discoveryAlireza Haghighi, Joel B Krier, Agnes Toth-Petroczy, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 2, 2020
Automated syndrome diagnosis by three-dimensional facial imagingBenedikt Hallgrímsson, J David Aponte, David C Katz, et al.
American Journal of Human Genetics|December 30, 2025
De novo variants in KDM2A cause a syndromic neurodevelopmental disorderEric N Anderson, Stephan Drukewitz, Sukhleen Kour, et al.
Pageof 10

Showing results (81-90 of 100) with videos related to

Sort By:
Pageof 10
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research|November 28, 2025
Evidence-based classification of genes implicated in skeletal disorders using the ClinGen curation frameworkRyan F Webb, Hannah McCurry, Amanda Girod, et al.
The Journal of Clinical Endocrinology and Metabolism|November 22, 2016
Clinical Characterization of Patients With Autosomal Dominant Short Stature due to Aggrecan MutationsAlexandra Gkourogianni, Melissa Andrew, Leah Tyzinski, et al.
American Journal of Medical Genetics. Part A|July 31, 2019
Phenotype delineation of ZNF462 related syndromePaul Kruszka, Tommy Hu, Sungkook Hong, et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics|November 14, 2019
The CHD8 overgrowth syndrome: A detailed evaluation of an emerging overgrowth phenotype in 27 patientsPhilip J Ostrowski, Anna Zachariou, Chey Loveday, et al.
American Journal of Medical Genetics. Part A|March 16, 2013
Investigation of NRXN1 deletions: clinical and molecular characterizationMindy Preston Dabell, Jill A Rosenfeld, Patricia Bader, 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.
Ebiomedicine|April 25, 2025
Artificial intelligence-driven genotype-epigenotype-phenotype approaches to resolve challenges in syndrome diagnosticsChristopher C Y Mak, Hannah Klinkhammer, Sanaa Choufani, et al.
NPJ Genomic Medicine|August 23, 2018
An integrated clinical program and crowdsourcing strategy for genomic sequencing and Mendelian disease gene discoveryAlireza Haghighi, Joel B Krier, Agnes Toth-Petroczy, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 2, 2020
Automated syndrome diagnosis by three-dimensional facial imagingBenedikt Hallgrímsson, J David Aponte, David C Katz, et al.
American Journal of Human Genetics|December 30, 2025
De novo variants in KDM2A cause a syndromic neurodevelopmental disorderEric N Anderson, Stephan Drukewitz, Sukhleen Kour, et al.
Pageof 10