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Journal of Human Genetics|October 23, 2015
A novel homozygous mutation in HSF4 causing autosomal recessive congenital cataractMahdiyeh Behnam, Eri Imagawa, Ahmad Reza Salehi Chaleshtori, et al.
Journal of Human Genetics|November 13, 2015
Six-layer structure for genomics and its applicationsNaoyuki Kamatani
Journal of Human Genetics|October 17, 2014
Compound heterozygous BRAT1 mutations cause familial Ohtahara syndrome with hypertonia and microcephalyHirotomo Saitsu, Sumimasa Yamashita, Yukichi Tanaka, et al.
Journal of Human Genetics|November 14, 2014
Association of neonatal hyperbilirubinemia in breast-fed infants with UGT1A1 or SLCOs polymorphismsHiroko Sato, Toshihiko Uchida, Kentaro Toyota, et al.
Journal of Human Genetics|November 28, 2014
Silver-Russell syndrome without body asymmetry in three patients with duplications of maternally derived chromosome 11p15 involving CDKN1CShinichi Nakashima, Fumiko Kato, Tomoki Kosho, et al.
Journal of Human Genetics|October 25, 2013
Genetic risk transmission in a family affected by familial breast cancerBrunella Pilato, Simona De Summa, Katia Danza, et al.
Journal of Human Genetics|January 31, 2018
Genetic variation in populations from central Argentina based on mitochondrial and Y chromosome DNA evidenceAngelina García, Maia Pauro, Graciela Bailliet, et al.
Journal of Human Genetics|February 7, 2018
Cerebellar ataxia-dominant phenotype in patients with ERCC4 mutationsHiroshi Doi, Shigeru Koyano, Satoko Miyatake, et al.
Journal of Human Genetics|February 8, 2018
A novel homozygous DPH1 mutation causes intellectual disability and unique craniofacial featuresFutoshi Sekiguchi, Jafar Nasiri, Maryam Sedghi, et al.
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