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The Journal of Clinical Endocrinology and Metabolism
|
May 18, 2022
Pathogenic Copy Number and Sequence Variants in Children Born SGA With Short Stature Without Imprinting Disorders
Kaori Hara-Isono, Akie Nakamura, Tomoko Fuke, et al.
Journal of Human Genetics
|
May 23, 2022
Frequency and clinical characteristics of distinct etiologies in patients with Silver-Russell syndrome diagnosed based on the Netchine-Harbison clinical scoring system
Tomoko Fuke, Akie Nakamura, Takanobu Inoue, et al.
Clinical Epigenetics
|
May 5, 2023
Risk assessment of assisted reproductive technology and parental age at childbirth for the development of uniparental disomy-mediated imprinting disorders caused by aneuploid gametes
Kaori Hara-Isono, Keiko Matsubara, Akie Nakamura, et al.
Journal of Medical Genetics
|
September 23, 2018
Molecular and clinical analyses of two patients with UPD(16)mat detected by screening 94 patients with Silver-Russell syndrome phenotype of unknown aetiology
Takanobu Inoue, Hideaki Yagasaki, Junko Nishioka, et al.
Journal of Medical Genetics
|
June 25, 2020
Loss of imprinting of the human-specific imprinted gene <i>ZNF597</i> causes prenatal growth retardation and dysmorphic features: implications for phenotypic overlap with Silver-Russell syndrome
Kazuki Yamazawa, Takanobu Inoue, Yoshihiro Sakemi, et al.
The Journal of Clinical Endocrinology and Metabolism
|
June 8, 2018
Maternal Uniparental Disomy for Chromosome 20: Physical and Endocrinological Characteristics of Five Patients
Sayaka Kawashima, Akie Nakamura, Takanobu Inoue, 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 defects
Takanobu Inoue, Akie Nakamura, Tomoko Fuke, et al.
Clinical Epigenetics
|
October 5, 2024
Comprehensive molecular and clinical findings in 29 patients with multi-locus imprinting disturbance
Tatsuki Urakawa, Hidenobu Soejima, Kaori Yamoto, et al.
The Journal of Clinical Endocrinology and Metabolism
|
September 24, 2019
IGF2 Mutations
Yohei Masunaga, Takanobu Inoue, Kaori Yamoto, et al.
Clinical Epigenetics
|
June 18, 2020
Contribution of gene mutations to Silver-Russell syndrome phenotype: multigene sequencing analysis in 92 etiology-unknown patients
Takanobu Inoue, Akie Nakamura, Megumi Iwahashi-Odano, et al.
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Search research articles
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Showing results (31-40 of 40) with videos related to
Sort By:
Page
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You have reached the last page of results.
This site can display upto 40 results.
The Journal of Clinical Endocrinology and Metabolism
|
May 18, 2022
Pathogenic Copy Number and Sequence Variants in Children Born SGA With Short Stature Without Imprinting Disorders
Kaori Hara-Isono, Akie Nakamura, Tomoko Fuke, et al.
Journal of Human Genetics
|
May 23, 2022
Frequency and clinical characteristics of distinct etiologies in patients with Silver-Russell syndrome diagnosed based on the Netchine-Harbison clinical scoring system
Tomoko Fuke, Akie Nakamura, Takanobu Inoue, et al.
Clinical Epigenetics
|
May 5, 2023
Risk assessment of assisted reproductive technology and parental age at childbirth for the development of uniparental disomy-mediated imprinting disorders caused by aneuploid gametes
Kaori Hara-Isono, Keiko Matsubara, Akie Nakamura, et al.
Journal of Medical Genetics
|
September 23, 2018
Molecular and clinical analyses of two patients with UPD(16)mat detected by screening 94 patients with Silver-Russell syndrome phenotype of unknown aetiology
Takanobu Inoue, Hideaki Yagasaki, Junko Nishioka, et al.
Journal of Medical Genetics
|
June 25, 2020
Loss of imprinting of the human-specific imprinted gene <i>ZNF597</i> causes prenatal growth retardation and dysmorphic features: implications for phenotypic overlap with Silver-Russell syndrome
Kazuki Yamazawa, Takanobu Inoue, Yoshihiro Sakemi, et al.
The Journal of Clinical Endocrinology and Metabolism
|
June 8, 2018
Maternal Uniparental Disomy for Chromosome 20: Physical and Endocrinological Characteristics of Five Patients
Sayaka Kawashima, Akie Nakamura, Takanobu Inoue, 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 defects
Takanobu Inoue, Akie Nakamura, Tomoko Fuke, et al.
Clinical Epigenetics
|
October 5, 2024
Comprehensive molecular and clinical findings in 29 patients with multi-locus imprinting disturbance
Tatsuki Urakawa, Hidenobu Soejima, Kaori Yamoto, et al.
The Journal of Clinical Endocrinology and Metabolism
|
September 24, 2019
IGF2 Mutations
Yohei Masunaga, Takanobu Inoue, Kaori Yamoto, et al.
Clinical Epigenetics
|
June 18, 2020
Contribution of gene mutations to Silver-Russell syndrome phenotype: multigene sequencing analysis in 92 etiology-unknown patients
Takanobu Inoue, Akie Nakamura, Megumi Iwahashi-Odano, et al.
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of 4