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American Journal of Medical Genetics. Part A|February 3, 2016
Identification of a syndrome comprising microcephaly and intellectual disability but not white matter disease associated with a homozygous c.676C>T p.R226W DEAF1 mutationChristian Gund, Zöe Powis, Wendy Alcaraz, et al.American Journal of Medical Genetics. Part A|January 16, 2016
De novo 9q gain in an infant with tetralogy of Fallot with absent pulmonary valve: Patient report and review of congenital heart disease in 9q duplication syndromeIna E Amarillo, Shawn O'Connor, Caroline K Lee, et al.American Journal of Medical Genetics. Part A|January 16, 2016
Screening of CD96 and ASXL1 in 11 patients with Opitz C or Bohring-Opitz syndromesRoser Urreizti, Neus Roca-Ayats, Judith Trepat, et al.American Journal of Medical Genetics. Part A|January 20, 2016
Detailed analysis of 26 cases of 1q partial duplication/triplication syndromeSatoshi Watanabe, Kenji Shimizu, Hirofumi Ohashi, et al.American Journal of Medical Genetics. Part A|January 8, 2016
Novel features of 3q29 deletion syndrome: Results from the 3q29 registryMegan R Glassford, Jill A Rosenfeld, Alexa A Freedman, et al.American Journal of Medical Genetics. Part A|January 13, 2016
Interstitial 6q25 microdeletion syndrome: ARID1B is the key geneLuisa Ronzoni, Francesco Tagliaferri, Arianna Tucci, et al.American Journal of Medical Genetics. Part A|January 13, 2016
Clinical, cytogenetic, and molecular outcomes in a series of 66 patients with Pierre Robin sequence and literature review: 22q11.2 deletion is less common than other chromosomal anomaliesNatalia Gomez-Ospina, Jonathan A BernsteinAmerican Journal of Medical Genetics. Part A|January 26, 2016
A distinct X-linked syndrome involving joint contractures, keloids, large optic cup-to-disc ratio, and renal stones results from a filamin A (FLNA) mutationMelissa Lah, Tejasvi Niranjan, Sujata Srikanth, et al.American Journal of Medical Genetics. Part A|December 23, 2015
Good response to long-term therapy with growth hormone in a patient with 9p trisomy syndrome: A case report and review of the literatureAna Pinheiro Machado Canton, Mirian Yumie Nishi, Tatiane Katsue Furuya, et al.American Journal of Medical Genetics. Part A|January 21, 2016
Trisomy 4 mosaicism: Delineation of the phenotypeArjan Bouman, Anne-Marie van der Kevie-Kersemaekers, Karin Huijsdens-van Amsterdam, et al.Pageof 928