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Molecular Therapy. Nucleic Acids|February 9, 2024
Preclinical evaluation of CRISPR-based therapies for Noonan syndrome caused by deep-intronic LZTR1 variantsCarolin Knauer, Henrike Haltern, Eric Schoger, et al.Human Genetics|October 23, 2010
A homozygous RAB3GAP2 mutation causes Warburg Micro syndromeGuntram Borck, Heidrun Wunram, Angela Steiert, et al.Human Genetics|September 10, 2005
A novel homozygous missense mutation in FGF23 causes Familial Tumoral Calcinosis associated with disseminated visceral calcificationIlana Chefetz, Raoul Heller, Assimina Galli-Tsinopoulou, et al.Journal of Medical Genetics|August 19, 2018
Homozygosity for the c.428delG variant in KIAA0586 in a healthy individual: implications for molecular testing in patients with Joubert syndromeSilke Pauli, Janine Altmüller, Simone Schröder, et al.Neurology. Genetics|May 2, 2019
Novel PNKP mutations causing defective DNA strand break repair and PARP1 hyperactivity in MCSZIlona Kalasova, Hana Hanzlikova, Neerja Gupta, et al.International Journal of Cancer|July 30, 2010
Sustained NF-kappaB activity in chronic lymphocytic leukemia is independent of genetic and epigenetic alterations in the TNFAIP3 (A20) locusLukas P Frenzel, Rainer Claus, Nadine Plume, et al.Human Genetics|July 16, 2013
A hypofunctional PAX1 mutation causes autosomal recessively inherited otofaciocervical syndromeEsther Pohl, Ayca Aykut, Filippo Beleggia, et al.Archives of Dermatological Research|September 30, 2008
A large duplication in LIPH underlies autosomal recessive hypotrichosis simplex in four Middle Eastern familiesSagi Nahum, Sandra M Pasternack, Jana Pforr, et al.Human Molecular Genetics|April 4, 2015
Mutations in XRCC4 cause primary microcephaly, short stature and increased genomic instabilityNadine Rosin, Nursel H Elcioglu, Filippo Beleggia, et al.Journal of Medical Genetics|June 26, 2021
Loss-of-function variants in DNM1 cause a specific form of developmental and epileptic encephalopathy only in biallelic stateGökhan Yigit, Ruth Sheffer, Muhannad Daana, et al.Pageof 17