Showing results (11-20 of 111) with videos related to
Sort By:
Pageof 12
European Journal of Human Genetics : EJHG|February 27, 2021
The impact of unsolicited findings in clinical exome sequencing, a qualitative interview studyVyne van der Schoot, Simone J Viellevoije, Femke Tammer, et al.Patient Education and Counseling|November 17, 2023
Exploring uncertainties regarding unsolicited findings in genetic testingVyne van der Schoot, Eline van der Meer, Marij A Hillen, et al.American Journal of Medical Genetics. Part A|September 2, 2003
A gene for nonsyndromic X-linked mental retardation (MRX77) maps to Xq12-Xq21.33Carolina Sismani, Maria Syrrou, Kyproula Christodoulou, et al.The Journal of Biological Chemistry|January 6, 2005
Functional characterization of human RSK4, a new 90-kDa ribosomal S6 kinase, reveals constitutive activation in most cell typesBettina A Dümmler, Camilla Hauge, Joachim Silber, et al.Case Reports in Genetics|December 18, 2012
Mowat-Wilson syndrome: the first clinical and molecular report of an indonesian patientFarmaditya E P Mundhofir, Helger G Yntema, Ineke van der Burgt, et al.Human Genomics|May 3, 2023
Twist exome capture allows for lower average sequence coverage in clinical exome sequencingBurcu Yaldiz, Erdi Kucuk, Juliet Hampstead, et al.American Journal of Medical Genetics. Part A|November 9, 2011
A newborn with overlapping features of AEC and EEC syndromesTolga Hasan Celik, Ayse Buyukcam, Pelin Ozlem Simsek-Kiper, et al.American Journal of Medical Genetics. Part A|January 27, 2010
X chromosome inactivation does not define the development of premature ovarian failure in fragile X premutation carriersMarian A Spath, Willy N Nillesen, Arie P T Smits, et al.Ear and Hearing|July 11, 2024
Long-Term Outcomes of Cochlear Implantation in Usher SyndromeMirthe L A Fehrmann, Cris P Lanting, Lonneke Haer-Wigman, et al.Acta Paediatrica (Oslo, Norway : 1992)|December 21, 2011
Cardiac evaluation in children with Prader-Willi syndromeKaren A Marcus, Janiëlle A A E M van Alfen-van der Velden, Barto J Otten, et al.Pageof 12