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Case Reports in Genetics|October 18, 2012
Inheritance of a Ring Chromosome 21 in a Couple Undergoing In Vitro Fertilization (IVF): A Case ReportRoberto L P Mazzaschi, Donald R Love, Ian Hayes, et al.Case Reports in Genetics|October 18, 2012
Novel sonic hedgehog mutation in a couple with variable expression of holoprosencephalyM Aguinaga, I Llano, J C Zenteno, et al.Case Reports in Genetics|October 18, 2012
A De Novo Whole GCK Gene Deletion Not Detected by Gene Sequencing, in a Boy with Phenotypic GCK InsufficiencyN H Birkebæk, J S Sørensen, J Vikre-Jørgensen, et al.Case Reports in Genetics|October 18, 2012
Premature Moustache As Presenting Symptom of Nonclassic Congenital Adrenal Hyperplasia due to 2 Uncommon Mutations of the CYP21A2 GeneGuy Massa, Philippe Gillis, Marianne SchwartzCase Reports in Genetics|October 18, 2012
Synchronous pulmonary squamous cell carcinoma and mantle cell lymphoma of the lymph nodeYu Sun, Yun-Fei Shi, Li-Xin Zhou, et al.Case Reports in Genetics|March 7, 2023
Prenatal Lethal Diagnosis of 8p23.1 Duplication Syndrome Associated with Omphalocele and EncephaloceleMelissa A Hicks, Salah Ebrahim, Bernard GonikCase Reports in Genetics|September 13, 2021
Corrigendum #2 to "Eye Manifestations of Shprintzen-Goldberg Craniosynostosis Syndrome: A Case Report and Systematic Review"Jamie H Choi, Rachel Li, Rachel Gannaway, et al.Case Reports in Genetics|December 8, 2025
Diaphragmatic Hernia in a Newborn With COL1A1-Associated Classical Ehlers-Danlos SyndromeLaven Anand, Michael J Munro, Ashalatha Shetty, et al.Case Reports in Genetics|December 5, 2025
Long-Read Sequencing as a Diagnostic Tool for Primary Ciliary DyskinesiaLiora H Feshbach, Morgan Similuk, Laura M Amendola, et al.Case Reports in Genetics|January 19, 2026
Hypokalemic Periodic Paralysis Associated With a Rare CACNA1S Variant (p.Leu1243Val): Expanding the Mutational SpectrumMark Abi NaderPageof 34