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Journal of Human Genetics|March 10, 2017
Characterization of contiguous gene deletions in COL4A6 and COL4A5 in Alport syndrome-diffuse leiomyomatosisKandai Nozu, Shogo Minamikawa, Shiro Yamada, et al.
The Kobe Journal of Medical Sciences|February 14, 2018
Gender Effects on the Clinical Phenotype in Japanese Patients with Spinal Muscular AtrophyMawaddah Ar Rochmah, Ai Shima, Nur Imma Fatimah Harahap, et al.
Clinical Journal of the American Society of Nephrology : CJASN|June 10, 2016
Genetic, Clinical, and Pathologic Backgrounds of Patients with Autosomal Dominant Alport SyndromeNaohiro Kamiyoshi, Kandai Nozu, Xue Jun Fu, et al.
American Journal of Medical Genetics. Part A|October 1, 2015
A novel PIGN mutation and prenatal diagnosis of inherited glycosylphosphatidylinositol deficiencyTaku Nakagawa, Mariko Taniguchi-Ikeda, Yoshiko Murakami, et al.
Journal of Human Genetics|November 8, 2018
Clinical spectrum of male patients with OFD1 mutationsNana Sakakibara, Naoya Morisada, Kandai Nozu, et al.
The Journal of Clinical Endocrinology and Metabolism|September 24, 2019
IGF2 MutationsYohei Masunaga, Takanobu Inoue, Kaori Yamoto, et al.
Journal of Human Genetics|June 1, 2018
Congenital chloride diarrhea needs to be distinguished from Bartter and Gitelman syndromeNatsuki Matsunoshita, Kandai Nozu, Masahide Yoshikane, et al.
Molecular Genetics & Genomic Medicine|August 1, 2019
Comparison between conventional and comprehensive sequencing approaches for genetic diagnosis of Alport syndromeTomohiko Yamamura, Kandai Nozu, Shogo Minamikawa, et al.
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