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The Journal of Molecular Diagnostics : JMD|July 2, 2013
MECP2 gene study in a large cohort: testing of 240 female patients and 861 healthy controls (519 females and 342 males)Hiart Maortua, Cristina Martínez-Bouzas, Ainhoa García-Ribes, et al.Prenatal Diagnosis|November 27, 2004
Prenatal diagnostic procedures used in pregnancies with congenital malformations in 14 regions of EuropeEster Garne, Maria Loane, Catherine de Vigan, et al.Frontiers in Genetics|November 3, 2018
Parental Mosaicism in PAX6 Causes Intra-Familial Variability: Implications for Genetic Counseling of Congenital Aniridia and MicrophthalmiaMaría Tarilonte, Matías Morín, Patricia Ramos, et al.Biomedicine & Pharmacotherapy = Biomedecine & Pharmacotherapie|May 14, 2024
Galunisertib downregulates mutant type I collagen expression and promotes MSCs osteogenesis in pediatric osteogenesis imperfectaArantza Infante, Natividad Alcorta-Sevillano, Iratxe Macías, et al.American Journal of Human Genetics|August 6, 2013
Short-rib polydactyly and Jeune syndromes are caused by mutations in WDR60Aideen M McInerney-Leo, Miriam Schmidts, Claudio R Cortés, et al.American Journal of Human Genetics|June 22, 2010
Mutations in HPSE2 cause urofacial syndromeSarah B Daly, Jill E Urquhart, Emma Hilton, et al.Human Mutation|April 18, 2013
Synonymous mutations in RNASEH2A create cryptic splice sites impairing RNase H2 enzyme function in Aicardi-Goutières syndromeGillian I Rice, Martin A M Reijns, Stephanie R Coffin, et al.Human Molecular Genetics|June 14, 2012
Miller (Genee-Wiedemann) syndrome represents a clinically and biochemically distinct subgroup of postaxial acrofacial dysostosis associated with partial deficiency of DHODHJoe Rainger, Hemant Bengani, Leigh Campbell, et al.Nature Genetics|March 12, 2014
Mutations in the DNA methyltransferase gene DNMT3A cause an overgrowth syndrome with intellectual disabilityKatrina Tatton-Brown, Sheila Seal, Elise Ruark, et al.Orphanet Journal of Rare Diseases|March 24, 2016
Uncommon nucleotide excision repair phenotypes revealed by targeted high-throughput sequencingNadège Calmels, Géraldine Greff, Cathy Obringer, et al.Pageof 6