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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.
Human Molecular Genetics|February 28, 2023
Integrator complex subunit 15 controls mRNA splicing and is critical for eye developmentNoriyuki Azuma, Tadashi Yokoi, Taku Tanaka, et al.
Scientific Reports|October 12, 2022
Clinical and molecular findings in three Japanese patients with N-acetylneuraminic acid synthetase-congenital disorder of glycosylation (NANS-CDG)Yohei Masunaga, Gen Nishimura, Koji Takahashi, et al.
European Journal of Endocrinology|December 1, 2023
(Epi)genetic and clinical characteristics in 84 patients with pseudohypoparathyroidism type 1BTatsuki Urakawa, Shinichiro Sano, Sayaka Kawashima, et al.
Plos One|January 4, 2013
Individual variation of the genetic response to bisphenol a in human foreskin fibroblast cells derived from cryptorchidism and hypospadias patientsXian-Yang Qin, Hideko Sone, Yoshiyuki Kojima, et al.
The Journal of Clinical Endocrinology and Metabolism|September 26, 2013
Genomic basis of aromatase excess syndrome: recombination- and replication-mediated rearrangements leading to CYP19A1 overexpressionMaki Fukami, Takayoshi Tsuchiya, Heike Vollbach, et al.
Human Mutation|September 10, 2016
Identical NR5A1 Missense Mutations in Two Unrelated 46,XX Individuals with Testicular TissuesMaki Igarashi, Kei Takasawa, Akiko Hakoda, et al.
Scientific Reports|May 31, 2018
Molecular Diagnosis of 34 Japanese Families with Leber Congenital Amaurosis Using Targeted Next Generation SequencingKatsuhiro Hosono, Sachiko Nishina, Tadashi Yokoi, et al.
Clinical Epigenetics|May 19, 2017
Genetic heterogeneity of patients with suspected Silver-Russell syndrome: genome-wide copy number analysis in 82 patients without imprinting defectsTakanobu Inoue, Akie Nakamura, Tomoko Fuke, et al.
Sexual Development : Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation|September 21, 2016
NR0B1 Frameshift Mutation in a Boy with Idiopathic Central Precocious PubertyHirohito Shima, Shuichi Yatsuga, Akie Nakamura, et al.
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