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1 . Academic Journal
Multi-locus imprinting disturbance (MLID): interim joint statement for clinical and molecular diagnosis
저자
by
Deborah J. G. Mackay
;
Gabriella Gazdagh
;
David Monk
;
Frederic Brioude
;
Eloise Giabicani
, et al.
소스
Clinical Epigenetics, Vol 16, Iss 1, Pp 1-19 (2024)
Open Access (BioMed Central)
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7 . Academic Journal
Pathogenic sequence variant and microdeletion affecting HMGA2 in Silver–Russell syndrome: case reports and literature review
저자
by
Kaori Yamoto
;
Hirotomo Saitsu
;
Yumiko Ohkubo
;
Masayo Kagami
;
Tsutomu Ogata
.
소스
Clinical Epigenetics, Vol 16, Iss 1, Pp 1-8 (2024)
Open Access (BioMed Central)
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7 . Academic Journal
Expression levels and DNA methylation profiles of the growth gene SHOX in cartilage tissues and chondrocytes
저자
by
Atsushi Hattori
;
Atsuhito Seki
;
Naoto Inaba
;
Kazuhiko Nakabayashi
;
Kazue Takeda
, et al.
소스
Scientific Reports, Vol 14, Iss 1, Pp 1-7 (2024)
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7 . Academic Journal
Pseudohypoparathyroidism type 1B with involuntary movements: a case report and literature review
저자
by
Junko Naganuma
;
Hiroshi Suzumura
;
Satomi Koyama
;
Miho Yaginuma
;
Yuji Fujita
, et al.
소스
Clinical Pediatric Endocrinology. 2024, 33(3):151-156
Open Access (JSTAGE)
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7 . Academic Journal
P389: Kagami-Ogata syndrome: The indispensable role of clinical assessment and utilization of advanced molecular technologies
저자
by
Nathaniel Jensen
;
Scott Saunders
;
Tsutomu Ogata
;
Ryan Longman
;
Masayo Kagami
, et al.
소스
Genetics in Medicine Open, Vol 2, Iss , Pp 101283- (2024)
Full Text (ScienceDirect)
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7 . Academic Journal
Risk assessment of assisted reproductive technology and parental age at childbirth for the development of uniparental disomy-mediated imprinting disorders caused by aneuploid gametes
저자
by
Kaori Hara-Isono
;
Keiko Matsubara
;
Akie Nakamura
;
Shinichiro Sano
;
Takanobu Inoue
, et al.
소스
Clinical Epigenetics, Vol 15, Iss 1, Pp 1-11 (2023)
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7 . Academic Journal
Maternal uniparental disomy of chromosome 7 underlying argininosuccinic aciduria and Silver-Russell syndrome
저자
by
Atsushi Hattori
;
Torayuki Okuyama
;
Tetsumin So
;
Motomichi Kosuga
;
Keiko Ichimoto
, et al.
소스
Human Genome Variation, Vol 9, Iss 1, Pp 1-4 (2022)
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7 . Academic Journal
Infantile hepatic hemangioma and hepatic mesenchymal hamartoma in an infant associated with placental mesenchymal dysplasia: a case report
저자
by
Shunsuke Fujii
;
Kyoko Mochizuki
;
Hidehito Usui
;
Norihiko Kitagawa
;
Sayoko Umemoto
, et al.
소스
Surgical Case Reports, Vol 8, Iss 1, Pp 1-6 (2022)
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7 . Academic Journal
A case of focal dystonia associated with DYT11 in which the decrease in interhemispheric inhibition was relieved by mental calculation / 半球間抑制低下が暗算で軽快したDYT11に伴う局所性ジストニアの1例
저자
by
Akira Ishiguro
;
Itaru Hayakawa
;
Kentaro Koike
;
Masaya Kubota
;
Masayo Kagami
, et al.
소스
脳と発達 / NO TO HATTATSU. 2022, 54(4):256
Scopus
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7 . Academic Journal
Coffin‐Lowry syndrome in a girl with 46,XX,t(X;11)(p22;p15)dn: Identification of RPS6KA3 disruption by whole genome sequencing
저자
by
Kaori Yamoto
;
Hirotomo Saitsu
;
Yasuko Fujisawa
;
Fumiko Kato
;
Keiko Matsubara
, et al.
소스
Clinical Case Reports, Vol 8, Iss 6, Pp 1076-1080 (2020)
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