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American Journal of Medical Genetics. Part A|April 4, 2019
PIEZO2 deficiency is a recognizable arthrogryposis syndrome: A new case and literature reviewTomomi Yamaguchi, Kyoko Takano, Yuji Inaba, et al.Molecular Cytogenetics|December 6, 2014
Breakpoint analysis of the recurrent constitutional t(8;22)(q24.13;q11.21) translocationDivya Mishra, Takema Kato, Hidehito Inagaki, et al.Journal of Human Genetics|July 18, 2019
Entire FGF12 duplication by complex chromosomal rearrangements associated with West syndromeYoichiro Oda, Yuri Uchiyama, Ai Motomura, et al.Rinsho Byori. the Japanese Journal of Clinical Pathology|March 16, 2012
[Case with intrauterine fetus death: interphase fluorescence in situ hybridization using buccal cells is useful for examining chromosomal abnormalities when placental villus not available]Yuka Takezawa, Tomoki Kosho, Kazuyuki Matsuda, et al.Cancer Genetics and Cytogenetics|July 28, 2007
A complex karyotype, including a three-way translocation generating a NUP98-HOXD13 transcript, in an infant with acute myeloid leukemiaEiko Hidaka, Miyuki Tanaka, Kazuyuki Matsuda, et al.The Journal of Clinical Endocrinology and Metabolism|June 8, 2018
Maternal Uniparental Disomy for Chromosome 20: Physical and Endocrinological Characteristics of Five PatientsSayaka Kawashima, Akie Nakamura, Takanobu Inoue, et al.Journal of Medical Genetics|August 30, 2017
CTCF deletion syndrome: clinical features and epigenetic delineationIkumi Hori, Rie Kawamura, Kazuhiko Nakabayashi, et al.American Journal of Medical Genetics. Part A|February 27, 2010
Cold-induced sweating syndrome with neonatal features of Crisponi syndrome: longitudinal observation of a patient homozygous for a CRLF1 mutationMasanori Yamazaki, Tomoki Kosho, Shigeo Kawachi, et al.Genes|September 19, 2019
Mid-Frequency Hearing Loss Is Characteristic Clinical Feature of OTOA-Associated Hearing LossKenjiro Sugiyama, Hideaki Moteki, Shin-Ichiro Kitajiri, et al.Journal of Human Genetics|June 29, 2004
The IHPK1 gene is disrupted at the 3p21.31 breakpoint of t(3;9) in a family with type 2 diabetes mellitusJunichi Kamimura, Keiko Wakui, Hiroko Kadowaki, et al.Pageof 7