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Journal of Human Genetics|December 9, 2016
TBCD may be a causal gene in progressive neurodegenerative encephalopathy with atypical infantile spinal muscular atrophyToshio Ikeda, Akihiko Nakahara, Rie Nagano, et al.
Journal of Human Genetics|December 23, 2016
Kaufman oculo-cerebro-facial syndrome in a child with small and absent terminal phalanges and absent nailsAriana Kariminejad, Norbert Fonya Ajeawung, Bita Bozorgmehr, et al.
Journal of Human Genetics|December 16, 2016
Association of a single nucleotide polymorphism upstream of ICOS with Japanese autoimmune hepatitis type 1Takashi Higuchi, Shomi Oka, Hiroshi Furukawa, et al.
Journal of Human Genetics|December 2, 2016
Genotype and phenotype characterization in a Spanish cohort with isovaleric acidemiaMaría L Couce, Luís Aldamiz-Echevarría, María A Bueno, et al.
Journal of Human Genetics|October 28, 2016
Cryptic exon activation in SLC12A3 in Gitelman syndromeKandai Nozu, Yoshimi Nozu, Keita Nakanishi, et al.
Journal of Human Genetics|February 10, 2017
Rapid and cost-effective high-throughput sequencing for identification of germline mutations of BRCA1 and BRCA2Somayeh Ahmadloo, Hirofumi Nakaoka, Takahide Hayano, et al.
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