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CEN Case Reports
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May 17, 2017
Transient Fanconi syndrome in two preterm infants with hydronephrosis and urinary tract infection
Takahiro Tominaga, Takeshi Sato, Yosuke Ichihashi, et al.
Human Genome Variation
|
June 15, 2018
Two novel mutations of <i>COMP</i> in Japanese boys with pseudoachondroplasia
Yosuke Ichihashi, Masaki Takagi, Tomohiro Ishii, et al.
Hormone Research in Paediatrics
|
February 23, 2025
Familial Non-Autoimmune Hyperthyroidism Caused by an Extracellular Domain Variant (p.Leu267Phe) of the TSH Receptor
Kazuhiro Shimura, Yosuke Ichihashi, Kiyomi Abe, et al.
Neonatology
|
October 23, 2022
Less-Invasive Diagnostic Approaches for Infants with Suspected Differences of Sex Development: A Case Report of a 297-g Neonate with Ambiguous Genitalia
Takeshi Sato, Satsuki Nakano, Yosuke Ichihashi, et al.
Journal of Molecular Endocrinology
|
September 26, 2024
Establishment of Star-edited Y1 cells as a novel in vitro functional assay for STAR
Takeshi Sato, Satoshi Narumi, Tetsushi Sakuma, et al.
Congenital Anomalies
|
April 22, 2026
A Neonatal Manifestation of Geleophysic Dysplasia Type 1: A Case Report Highlighting Phenotypic Overlap With Al-Gazali Skeletal Dysplasia
Kazuhiro Shimura, Yuko Tsujioka, Toshihide Kijima, et al.
Frontiers in Pediatrics
|
February 1, 2021
Case Report: Prenatal Genetic Counseling to Parents of Fetuses Suspected of Having Ambiguous Genitalia
Takeshi Sato, Tomohiro Ishii, Yu Yamaguchi, et al.
Hormone Research in Paediatrics
|
February 15, 2024
DHX37 Variant Is One of the Common Genetic Causes in Japanese Patients with Testicular Regression Syndrome/Partial Gonadal Dysgenesis without Müllerian Derivatives
Kazuhiro Shimura, Yosuke Ichihashi, Satsuki Nakano, et al.
Endocrine Journal
|
July 24, 2024
Characteristic external genitalia in male neonates with 5α-reductase deficiency
Takeshi Munenaga, Yosuke Ichihashi, Satsuki Nakano, et al.
Journal of Pediatric Endocrinology & Metabolism : JPEM
|
June 21, 2023
Fibroblast growth factor 23 levels in cord and peripheral blood during early neonatal period as possible predictors of affected offspring of X-linked hypophosphatemic rickets: report of three female cases from two pedigrees
Yukiyo Nabeshima, Takeshi Sato, Hiroaki Zukeran, et al.
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of 2
Search research articles
Search
Showing results (1-10 of 15) with videos related to
Sort By:
Page
of 2
CEN Case Reports
|
May 17, 2017
Transient Fanconi syndrome in two preterm infants with hydronephrosis and urinary tract infection
Takahiro Tominaga, Takeshi Sato, Yosuke Ichihashi, et al.
Human Genome Variation
|
June 15, 2018
Two novel mutations of <i>COMP</i> in Japanese boys with pseudoachondroplasia
Yosuke Ichihashi, Masaki Takagi, Tomohiro Ishii, et al.
Hormone Research in Paediatrics
|
February 23, 2025
Familial Non-Autoimmune Hyperthyroidism Caused by an Extracellular Domain Variant (p.Leu267Phe) of the TSH Receptor
Kazuhiro Shimura, Yosuke Ichihashi, Kiyomi Abe, et al.
Neonatology
|
October 23, 2022
Less-Invasive Diagnostic Approaches for Infants with Suspected Differences of Sex Development: A Case Report of a 297-g Neonate with Ambiguous Genitalia
Takeshi Sato, Satsuki Nakano, Yosuke Ichihashi, et al.
Journal of Molecular Endocrinology
|
September 26, 2024
Establishment of Star-edited Y1 cells as a novel in vitro functional assay for STAR
Takeshi Sato, Satoshi Narumi, Tetsushi Sakuma, et al.
Congenital Anomalies
|
April 22, 2026
A Neonatal Manifestation of Geleophysic Dysplasia Type 1: A Case Report Highlighting Phenotypic Overlap With Al-Gazali Skeletal Dysplasia
Kazuhiro Shimura, Yuko Tsujioka, Toshihide Kijima, et al.
Frontiers in Pediatrics
|
February 1, 2021
Case Report: Prenatal Genetic Counseling to Parents of Fetuses Suspected of Having Ambiguous Genitalia
Takeshi Sato, Tomohiro Ishii, Yu Yamaguchi, et al.
Hormone Research in Paediatrics
|
February 15, 2024
DHX37 Variant Is One of the Common Genetic Causes in Japanese Patients with Testicular Regression Syndrome/Partial Gonadal Dysgenesis without Müllerian Derivatives
Kazuhiro Shimura, Yosuke Ichihashi, Satsuki Nakano, et al.
Endocrine Journal
|
July 24, 2024
Characteristic external genitalia in male neonates with 5α-reductase deficiency
Takeshi Munenaga, Yosuke Ichihashi, Satsuki Nakano, et al.
Journal of Pediatric Endocrinology & Metabolism : JPEM
|
June 21, 2023
Fibroblast growth factor 23 levels in cord and peripheral blood during early neonatal period as possible predictors of affected offspring of X-linked hypophosphatemic rickets: report of three female cases from two pedigrees
Yukiyo Nabeshima, Takeshi Sato, Hiroaki Zukeran, et al.
Page
of 2