Showing results (131-140 of 9,274) with videos related to

Sort By:
Pageof 928
American Journal of Medical Genetics. Part A|September 26, 2025
A Rare Craniosynostosis Phenotype Associated With a Homozygous CYP26B1 Pathogenic Variant in the Absence of Extremity SynostosisBusra Ozguc Caliskan, Mikail Demir, Suat Oktem, et al.
American Journal of Medical Genetics. Part A|September 27, 2025
A Confirmatory Case of Severe Spondylocostal Dysostosis Caused by Biallelic Loss-of-Function of DMRT2Jonathan Rips, Hagar Mor-Shaked, Oded Shamriz, et al.
American Journal of Medical Genetics. Part A|September 22, 2025
The International Summit on Health Benefits of Physical Fitness for People With Down Syndrome: Current Science, Gaps, Priorities, and Research OpportunitiesNicolas M Oreskovic, Greg Austin, Brendan Aylward, et al.
American Journal of Medical Genetics. Part A|September 22, 2025
Detection of Isodisomy Utilizing SNP Microarray: Frequency, Ascertainment, and ImplicationsSharon Molinari, Niecy Williams, Gloria Haskell, et al.
American Journal of Medical Genetics. Part A|December 21, 2020
De novo small deletion affecting transcription start site of short isoform of AUTS2 gene in a patient with syndromic neurodevelopmental defectsBeatriz Martinez-Delgado, Estrella Lopez-Martin, Julián Lara-Herguedas, et al.
American Journal of Medical Genetics. Part A|December 28, 2020
Carpenter syndrome in a patient from TanzaniaJay Lodhia, Iago Rego-Garcia, Sengua Koipapi, et al.
American Journal of Medical Genetics. Part A|December 28, 2020
Quality of life in adults with achondroplasia in the United StatesElizabeth A Yonko, Jillian S Emanuel, Erin M Carter, et al.
American Journal of Medical Genetics. Part A|December 28, 2020
Confirming the involvement of PIEZO2 in the etiology of Marden-Walker syndromeMohammed Zain Seidahmed, Sateesh Maddirevula, Abeer M Miqdad, et al.
American Journal of Medical Genetics. Part A|December 28, 2020
Pathogenic paternally inherited NLGN4X deletion in a female with autism spectrum disorder: Clinical, cytogenetic, and molecular characterizationNathan Kopp, Ina Amarillo, Julian Martinez-Agosto, et al.
American Journal of Medical Genetics. Part A|December 28, 2020
Cerebro-oculo-facio-skeletal syndrome caused by the homozygous pathogenic variant Gly47Arg in ERCC2Janine Reunert, Alijda van den Heuvel, Stephan Rust, et al.
Pageof 928