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Results: 1-2 |
Results: 2
Identification of a 3.0-kb Major Recombination Hotspot in Patients with Sotos Syndrome Who Carry a Common 1.9-Mb Microdeletion
Authors: Visser, Remco Shimokawa, Osamu Harada, Naoki Kinoshita, Akira Ohta, Tohru Niikawa, Norio Matsumoto, Naomichi
Citation: Visser, Remco et al., Identification of a 3.0-kb Major Recombination Hotspot in Patients with Sotos Syndrome Who Carry a Common 1.9-Mb Microdeletion, American journal of human genetics , 76(1), 2005, pp. 52-67
Exome Sequencing Reveals a Homozygous SYT14 Mutation in Adult-Onset, Autosomal-Recessive Spinocerebellar Ataxia with Psychomotor Retardation
Authors: Doi, Hiroshi Yoshida, Kunihiro Yasuda, Takao Fukuda, Mitsunori Matsumoto, Naomichi
Citation: Doi, Hiroshi et al., Exome Sequencing Reveals a Homozygous SYT14 Mutation in Adult-Onset, Autosomal-Recessive Spinocerebellar Ataxia with Psychomotor Retardation, American journal of human genetics (Online) AJHG , 89(2), 2011, pp. 320-327
Risultati: 1-2 |