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Mamiko Yamada

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Molecular Genetics and Metabolism Reports|November 6, 2019
Effectiveness of integrated interpretation of exome and corresponding transcriptome data for detecting splicing variants of genes associated with autosomal recessive disordersMamiko Yamada, Hisato Suzuki, Yuichi Shiraishi, et al.
American Journal of Medical Genetics. Part A|October 8, 2021
A patient with compound heterozygosity of SMPD4: Another example of utility of exome-based copy number analysis in autosomal recessive disordersMamiko Yamada, Hisato Suzuki, Taiki Shima, et al.
American Journal of Medical Genetics. Part A|August 12, 2020
Parallel detection of single nucleotide variants and copy number variants with exome analysis: Validation in a cohort of 700 undiagnosed patientsHisato Suzuki, Mamiko Yamada, Tomoko Uehara, et al.
Child'S Nervous System : Chns : Official Journal of the International Society for Pediatric Neurosurgery|June 14, 2021
Early diagnosis of lateral meningocele syndrome in an infant without neurological symptoms based on genomic analysisMamiko Yamada, Takeshi Arimitsu, Hisato Suzuki, et al.
Masui. the Japanese Journal of Anesthesiology|June 11, 2003
[Fiberoptic intubation via laryngeal mask airway under general anesthesia in the patients with halo vest]Sanji Kitamura, Mamiko Yamada, Mayumi Morikawa, et al.
American Journal of Medical Genetics. Part A|May 14, 2022
Deciphering complex rearrangements at the breakpoint of an apparently balanced reciprocal translocation t(4:18)(q31;q11.2)dn and at a cryptic deletion: Further evidence of TLL1 as a causative gene for atrial septal defectMamiko Yamada, Hisato Suzuki, Fuyuki Miya, et al.
American Journal of Medical Genetics. Part A|August 28, 2020
Protein elongation variant of PUF60: Milder phenotypic end of the Verheij syndromeMamiko Yamada, Tomoko Uehara, Hisato Suzuki, et al.
American Journal of Medical Genetics. Part A|January 31, 2025
Functional Analyses of SATB2 Variants Reveal Pathogenicity Mechanisms Linked With SATB2-Associated SyndromeNao Ukita, Takuya Ogawa, Mamiko Yamada, et al.
CEN Case Reports|August 26, 2021
A girl with a mutation of the ciliary gene CC2D2A presenting with FSGS and nephronophthisisMidori Awazu, Mamiko Yamada, Nariaki Asada, et al.
Journal of Human Genetics|September 8, 2025
Augmenting cost-effectiveness in clinical diagnosis using extended whole-exome sequencing: SNVs, SVs, and beyondFuyuki Miya, Daisuke Nakato, Hisato Suzuki, et al.
Pageof 9

Showing results (1-10 of 86) with videos related to

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Pageof 9
Molecular Genetics and Metabolism Reports|November 6, 2019
Effectiveness of integrated interpretation of exome and corresponding transcriptome data for detecting splicing variants of genes associated with autosomal recessive disordersMamiko Yamada, Hisato Suzuki, Yuichi Shiraishi, et al.
American Journal of Medical Genetics. Part A|October 8, 2021
A patient with compound heterozygosity of SMPD4: Another example of utility of exome-based copy number analysis in autosomal recessive disordersMamiko Yamada, Hisato Suzuki, Taiki Shima, et al.
American Journal of Medical Genetics. Part A|August 12, 2020
Parallel detection of single nucleotide variants and copy number variants with exome analysis: Validation in a cohort of 700 undiagnosed patientsHisato Suzuki, Mamiko Yamada, Tomoko Uehara, et al.
Child'S Nervous System : Chns : Official Journal of the International Society for Pediatric Neurosurgery|June 14, 2021
Early diagnosis of lateral meningocele syndrome in an infant without neurological symptoms based on genomic analysisMamiko Yamada, Takeshi Arimitsu, Hisato Suzuki, et al.
Masui. the Japanese Journal of Anesthesiology|June 11, 2003
[Fiberoptic intubation via laryngeal mask airway under general anesthesia in the patients with halo vest]Sanji Kitamura, Mamiko Yamada, Mayumi Morikawa, et al.
American Journal of Medical Genetics. Part A|May 14, 2022
Deciphering complex rearrangements at the breakpoint of an apparently balanced reciprocal translocation t(4:18)(q31;q11.2)dn and at a cryptic deletion: Further evidence of TLL1 as a causative gene for atrial septal defectMamiko Yamada, Hisato Suzuki, Fuyuki Miya, et al.
American Journal of Medical Genetics. Part A|August 28, 2020
Protein elongation variant of PUF60: Milder phenotypic end of the Verheij syndromeMamiko Yamada, Tomoko Uehara, Hisato Suzuki, et al.
American Journal of Medical Genetics. Part A|January 31, 2025
Functional Analyses of SATB2 Variants Reveal Pathogenicity Mechanisms Linked With SATB2-Associated SyndromeNao Ukita, Takuya Ogawa, Mamiko Yamada, et al.
CEN Case Reports|August 26, 2021
A girl with a mutation of the ciliary gene CC2D2A presenting with FSGS and nephronophthisisMidori Awazu, Mamiko Yamada, Nariaki Asada, et al.
Journal of Human Genetics|September 8, 2025
Augmenting cost-effectiveness in clinical diagnosis using extended whole-exome sequencing: SNVs, SVs, and beyondFuyuki Miya, Daisuke Nakato, Hisato Suzuki, et al.
Pageof 9