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Congenital Anomalies
|
July 30, 2023
Long-term clinical course of Heyn-Sproul-Jackson syndrome
Hiroshi Futagawa, Shiho Ito, Kenjiro Kosaki, et al.
Pediatrics International : Official Journal of the Japan Pediatric Society
|
November 22, 2021
Two cases of an infant with Down syndrome with solid food protein-induced enterocolitis syndrome
Naoki Kajita, Hiroshi Futagawa, Hiroshi Yoshihashi, et al.
Congenital Anomalies
|
November 7, 2025
A Patient With TRAF7-Related Neurodevelopmental Disorder Without Developmental Delay or Intellectual Disability
Kentaro Fukuda, Hiroshi Futagawa, Chiharu Suda, et al.
European Journal of Medical Genetics
|
April 19, 2022
Phenotypic overlap between cardioacrofacial dysplasia-2 and oral-facial-digital syndrome
Mamiko Yamada, Hisato Suzuki, Hiroshi Futagawa, et al.
European Journal of Medical Genetics
|
August 16, 2017
Novel compound heterozygous mutations identified by whole exome sequencing in a Japanese patient with geroderma osteodysplastica
Ryojun Takeda, Masaki Takagi, Hiroyuki Shinohara, et al.
Clinical Journal of Gastroenterology
|
March 17, 2026
Gastric outlet obstruction secondary to Peutz-Jeghers syndrome successfully managed by polypectomy
Riho Takeda, Toshiki Nakamura, Masamichi Sato, et al.
Pediatrics International : Official Journal of the Japan Pediatric Society
|
September 11, 2024
Prognostic factors for wellbeing in patients with hyaline fibromatosis syndrome
Hiroshi Futagawa, Shiho Ito, Kenji Hosoi, et al.
Pediatric Blood & Cancer
|
November 28, 2023
Myeloproliferative disorder in a patient with RIT1-associated Noonan syndrome: Case report and literature review
Kyogo Suzuki, Manabu Wakamatsu, Yoshifumi Ito, et al.
American Journal of Medical Genetics. Part A
|
May 11, 2021
Recurrent NFIA K125E substitution represents a loss-of-function allele: Sensitive in vitro and in vivo assays for nontruncating alleles
Tomoko Uehara, Rikako Sanuki, Yurie Ogura, et al.
HGG Advances
|
September 15, 2023
Gain-of-function MYCN causes a megalencephaly-polydactyly syndrome manifesting mirror phenotypes of Feingold syndrome
Yosuke Nishio, Kohji Kato, Frederic Tran Mau-Them, et al.
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Search research articles
Search
Showing results (1-10 of 11) with videos related to
Sort By:
Page
of 2
Congenital Anomalies
|
July 30, 2023
Long-term clinical course of Heyn-Sproul-Jackson syndrome
Hiroshi Futagawa, Shiho Ito, Kenjiro Kosaki, et al.
Pediatrics International : Official Journal of the Japan Pediatric Society
|
November 22, 2021
Two cases of an infant with Down syndrome with solid food protein-induced enterocolitis syndrome
Naoki Kajita, Hiroshi Futagawa, Hiroshi Yoshihashi, et al.
Congenital Anomalies
|
November 7, 2025
A Patient With TRAF7-Related Neurodevelopmental Disorder Without Developmental Delay or Intellectual Disability
Kentaro Fukuda, Hiroshi Futagawa, Chiharu Suda, et al.
European Journal of Medical Genetics
|
April 19, 2022
Phenotypic overlap between cardioacrofacial dysplasia-2 and oral-facial-digital syndrome
Mamiko Yamada, Hisato Suzuki, Hiroshi Futagawa, et al.
European Journal of Medical Genetics
|
August 16, 2017
Novel compound heterozygous mutations identified by whole exome sequencing in a Japanese patient with geroderma osteodysplastica
Ryojun Takeda, Masaki Takagi, Hiroyuki Shinohara, et al.
Clinical Journal of Gastroenterology
|
March 17, 2026
Gastric outlet obstruction secondary to Peutz-Jeghers syndrome successfully managed by polypectomy
Riho Takeda, Toshiki Nakamura, Masamichi Sato, et al.
Pediatrics International : Official Journal of the Japan Pediatric Society
|
September 11, 2024
Prognostic factors for wellbeing in patients with hyaline fibromatosis syndrome
Hiroshi Futagawa, Shiho Ito, Kenji Hosoi, et al.
Pediatric Blood & Cancer
|
November 28, 2023
Myeloproliferative disorder in a patient with RIT1-associated Noonan syndrome: Case report and literature review
Kyogo Suzuki, Manabu Wakamatsu, Yoshifumi Ito, et al.
American Journal of Medical Genetics. Part A
|
May 11, 2021
Recurrent NFIA K125E substitution represents a loss-of-function allele: Sensitive in vitro and in vivo assays for nontruncating alleles
Tomoko Uehara, Rikako Sanuki, Yurie Ogura, et al.
HGG Advances
|
September 15, 2023
Gain-of-function MYCN causes a megalencephaly-polydactyly syndrome manifesting mirror phenotypes of Feingold syndrome
Yosuke Nishio, Kohji Kato, Frederic Tran Mau-Them, et al.
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of 2