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American Journal of Medical Genetics. Part A|March 22, 2021
Hedgehog acyl-transferase-related multiple congenital anomalies: Report of an additional family and delineation of the syndromeShruti Pande, Periyasamy Radhakrishnan, Naveenchandra M Shetty, et al.American Journal of Medical Genetics. Part A|March 22, 2021
Confined placental mosaicism involving multiple de novo copy number variants associated with fetal growth restriction: A case reportGiulia F Del Gobbo, Victor Yuan, Wendy P RobinsonAmerican Journal of Medical Genetics. Part A|November 19, 2021
Neurofibromatosis 1 in the setting of dual diagnosis: Diagnostic and management conundrumsKarthik Muthusamy, Aseel El-Jabali, Laura J Ongie, et al.American Journal of Medical Genetics. Part A|November 19, 2021
De novo PBX1 variant in a patient with glaucoma, kidney anomalies, and developmental delay: An expansion of the CAKUTHED phenotypeStephanie L Safgren, Rory J Olson, Filippo Pinto E Vairo, et al.American Journal of Medical Genetics. Part A|September 5, 2022
Elements of morphology: Standard terminology for the trunk and limbsLeslie G Biesecker, Margaret P Adam, Brian Hon-Yin Chung, et al.American Journal of Medical Genetics. Part A|September 6, 2022
Clinical exome sequencing uncovers a high frequency of Mendelian disorders in infants with stroke: A retrospective analysisRunjun D Kumar, Linyan Meng, Pengfei Liu, et al.American Journal of Medical Genetics. Part A|January 13, 2022
Expanded cardiovascular phenotype of Myhre syndrome includes tetralogy of Fallot suggesting a role for SMAD4 in human neural crest defectsGerarda Cappuccio, Nicola Brunetti-Pierri, Paul Clift, et al.American Journal of Medical Genetics. Part A|December 29, 2021
Craniosynostosis is a feature of Costello syndromeK Nicole Weaver, Marguerite Care, Emily Wakefield, et al.American Journal of Medical Genetics. Part A|March 25, 2021
The mystery of monozygotic twinning II: What can monozygotic twinning tell us about Amyoplasia from a review of the various mechanisms and types of monozygotic twinning?Judith G HallAmerican Journal of Medical Genetics. Part A|December 11, 2021
Further delineation of phenotypic spectrum of SCN2A-related disorderRuth Richardson, Diana Baralle, Christopher Bennett, et al.Pageof 928