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Gen Nishimura

Showing results (131-140 of 335) with videos related to

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Clinical Pediatric Endocrinology : Case Reports and Clinical Investigations : Official Journal of the Japanese Society for Pediatric Endocrinology|November 24, 2015
A case of spondyloepiphyseal dysplasia tarda caused by a novel intragenic deletion of TRAPPC2Masaki Takagi, Hiroko Yagi, Yoshie Nakamura, 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 DysplasiaKazuhiro Shimura, Yuko Tsujioka, Toshihide Kijima, et al.
Radiographics : a Review Publication of the Radiological Society of North America, Inc|November 9, 2023
Pediatric Ribs at Chest Radiography: Normal Variants and AbnormalitiesYuko Tsujioka, Atsuhiko Handa, Gen Nishimura, et al.
European Journal of Medical Genetics|June 28, 2015
A Novel Oculo-Skeletal syndrome with intellectual disability caused by a particular MAB21L2 mutationDenise Horn, Trine Prescott, Gunnar Houge, et al.
Clinical Genetics|May 27, 2024
Novel biallelic PISD missense variants cause spondyloepimetaphyseal dysplasia with disproportionate short stature and fragmented mitochondrial morphologyLine Aagaard Nolting, Tess Holling, Gen Nishimura, et al.
Journal of Human Genetics|February 24, 2019
Identification of a homozygous frameshift variant in RFLNA in a patient with a typical phenotype of spondylocarpotarsal synostosis syndromeHitomi Shimizu, Satoshi Watanabe, Akira Kinoshita, et al.
American Journal of Medical Genetics. Part A|June 30, 2016
A novel homozygous PAM16 mutation in a patient with a milder phenotype and longer survivalShahida Moosa, Virginia Fano, Maria Gabriela Obregon, et al.
Clinical Genetics|August 24, 2023
Compound heterozygous variants in RAB34 in a rare skeletal ciliopathy syndromeDominyka Batkovskyte, Maya Komatsu, Anna Hammarsjö, et al.
American Journal of Medical Genetics. Part A|February 5, 2003
Spondyloepimetaphyseal dysplasia with joint laxity leptodactylic form: clinical course and phenotypic variations in four patientsGen Nishimura, Tomomi Honma, Takashi Shiihara, et al.
American Journal of Medical Genetics. Part A|September 10, 2005
Segmental and full paternal isodisomy for chromosome 14 in three patients: narrowing the critical region and implication for the clinical featuresMasayo Kagami, Gen Nishimura, Torayuki Okuyama, et al.
Pageof 34

Showing results (131-140 of 335) with videos related to

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Pageof 34
Clinical Pediatric Endocrinology : Case Reports and Clinical Investigations : Official Journal of the Japanese Society for Pediatric Endocrinology|November 24, 2015
A case of spondyloepiphyseal dysplasia tarda caused by a novel intragenic deletion of TRAPPC2Masaki Takagi, Hiroko Yagi, Yoshie Nakamura, 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 DysplasiaKazuhiro Shimura, Yuko Tsujioka, Toshihide Kijima, et al.
Radiographics : a Review Publication of the Radiological Society of North America, Inc|November 9, 2023
Pediatric Ribs at Chest Radiography: Normal Variants and AbnormalitiesYuko Tsujioka, Atsuhiko Handa, Gen Nishimura, et al.
European Journal of Medical Genetics|June 28, 2015
A Novel Oculo-Skeletal syndrome with intellectual disability caused by a particular MAB21L2 mutationDenise Horn, Trine Prescott, Gunnar Houge, et al.
Clinical Genetics|May 27, 2024
Novel biallelic PISD missense variants cause spondyloepimetaphyseal dysplasia with disproportionate short stature and fragmented mitochondrial morphologyLine Aagaard Nolting, Tess Holling, Gen Nishimura, et al.
Journal of Human Genetics|February 24, 2019
Identification of a homozygous frameshift variant in RFLNA in a patient with a typical phenotype of spondylocarpotarsal synostosis syndromeHitomi Shimizu, Satoshi Watanabe, Akira Kinoshita, et al.
American Journal of Medical Genetics. Part A|June 30, 2016
A novel homozygous PAM16 mutation in a patient with a milder phenotype and longer survivalShahida Moosa, Virginia Fano, Maria Gabriela Obregon, et al.
Clinical Genetics|August 24, 2023
Compound heterozygous variants in RAB34 in a rare skeletal ciliopathy syndromeDominyka Batkovskyte, Maya Komatsu, Anna Hammarsjö, et al.
American Journal of Medical Genetics. Part A|February 5, 2003
Spondyloepimetaphyseal dysplasia with joint laxity leptodactylic form: clinical course and phenotypic variations in four patientsGen Nishimura, Tomomi Honma, Takashi Shiihara, et al.
American Journal of Medical Genetics. Part A|September 10, 2005
Segmental and full paternal isodisomy for chromosome 14 in three patients: narrowing the critical region and implication for the clinical featuresMasayo Kagami, Gen Nishimura, Torayuki Okuyama, et al.
Pageof 34