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Journal of Human Genetics (19)
Human Genome Variation (3)
Nature Genetics (3)
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Showing 1–26 of 26 results

Advanced filters: Author: Kenji Naritomi Clear advanced filters

Agenesis of corpus callosum in three sibs

Kenji Naritomi
Yasutsugu Chinen
Yoshihide Asato
Research01 Dec 1997
Japanese Journal of Human Genetics

Volume: 42, P: 539-541
Application of personal computer to an analysis of smallde novo chromosomal insertion: A case ofde novo 3q2 trisomy with ins(8;3)

Kenji Naritomi
Yoshinori Izumikawa
Kiyotake Hirayama
Research01 Jun 1989
Japanese journal of human genetics

Volume: 34, P: 113-121
Malpuech facial clefting syndrome in a Japanese boy with cardiac defects

Yasutsugu Chinen
Kenji Naritomi
Research01 Dec 1995
Japanese journal of human genetics

Volume: 40, P: 335-338
Small interstitial deletion of the long arm of chromosome 2 (2q24.3): Further delineation of 2q medial monosomy syndrome

Yasutsugu Chinen
Takaya Tohma
Kenji Naritomi
Research01 Sept 1996
Japanese journal of human genetics

Volume: 41, P: 323-328
Megalocornea-mental retardation syndrome: An additional case report

Kenji Naritomi
Yasutsugu Chinen
Takaya Tohma
Research01 Sept 1997
Japanese Journal of Human Genetics

Volume: 42, P: 461-465
Determination of the breakpoints and the parental origin of a ring 22 chromosome: An analysis by high-resolution banding technique, quinacrine and silver stainings

Kenji Naritomi
Kiyotake Hirayama
Research01 Mar 1988
Japanese journal of human genetics

Volume: 33, P: 67-73
The cohen syndrome: Report of a case

Kenji Naritomi
Yasutsugu Chinen
Research01 Sept 1997
Japanese Journal of Human Genetics

Volume: 42, P: 457-459
The costello syndrome: A boy with thick mitral valves and arrhythmias

Yoshinori Izumikawa
Kenji Naritomi
Kiyotake Hirayama
Research01 Sept 1993
Japanese Journal of Human Genetics

Volume: 38, P: 329-334
Characterization of marker chromosomes by fish using microdissected probes from old carnoy-fixed cells: Report of two cases

Yasutsugu Chinen
Takaya Tohma
Kiyotake Hirayama
Research01 Dec 1997
Japanese Journal of Human Genetics

Volume: 42, P: 543-549
Apert syndrome with partial polysyndactyly: A proposal on the classification of acrocephalosyndactyly

Yoshinori Izumikawa
Kenji Naritomi
Kiyotake Hirayama
Research01 Dec 1988
Japanese journal of human genetics

Volume: 33, P: 487-492
Germline KRAS and BRAF mutations in cardio-facio-cutaneous syndrome

Tetsuya Niihori
Yoko Aoki
Yoichi Matsubara
Research12 Feb 2006
Nature Genetics

Volume: 38, P: 294-296
Haploinsufficiency of NSD1 causes Sotos syndrome

Naohiro Kurotaki
Kiyoshi Imaizumi
Naomichi Matsumoto
Research18 Mar 2002
Nature Genetics

Volume: 30, P: 365-366
Cosmid clones from microdissected human chromosomal region 15q11–q13

Takaya Tohma
Toshiya Tamura
Norio Niikawa
Research01 Sept 1993
Japanese Journal of Human Genetics

Volume: 38, P: 267-275
A novel nonsense SMC1A mutation in a patient with intractable epilepsy and cardiac malformation

Yasutsugu Chinen
Sadao Nakamura
Koichi Nakanishi
ResearchOpen Access13 May 2019
Human Genome Variation

Volume: 6, P: 1-5
Mutations affecting components of the SWI/SNF complex cause Coffin-Siris syndrome

Naomichi Matsumoto and colleagues report mutations in the SWI/SNF chromatin remodeling complex in Coffin-Siris syndrome. Twenty affected individuals (87%) harbored mutations in one of six SWI/SNF subunit genes: SMARCB1, SMARCA4, SMARCA2, SMARCE1, ARID1A or ARID1B.

Yoshinori Tsurusaki
Nobuhiko Okamoto
Naomichi Matsumoto
Research18 Mar 2012
Nature Genetics

Volume: 44, P: 376-378
Blood pressure during long-term cilostazol-based dual antiplatelet therapy after stroke: a post hoc analysis of the CSPS.com trial

Kazunori Toyoda
Masatoshi Koga
Hiroaki Tanaka
ResearchOpen Access09 Jul 2024
Hypertension Research

Volume: 47, P: 2238-2249
An application supporting diagnosis for rare genetic diseases – UR-DBMS and Syndrome Finder –

Kenji Naritomi
Reviews31 Jul 2024
Journal of Human Genetics

Volume: 69, P: 527-531
Molecular karyotyping in 17 patients and mutation screening in 41 patients with Kabuki syndrome

Hideo Kuniba
Koh-ichiro Yoshiura
Norio Niikawa
Research03 Apr 2009
Journal of Human Genetics

Volume: 54, P: 304-309
Additional findings of tibial dysplasia in a male with orofaciodigital syndrome type XVI

Yasutsugu Chinen
Sadao Nakamura
Koichi Nakanishi
ResearchOpen Access31 Mar 2022
Human Genome Variation

Volume: 9, P: 1-4
In memoriam of Shozo Ohdo MD, PhD: one of the pioneers of clinical geneticist in Japan

Kenji Naritomi
Comments & Opinion25 Mar 2013
Journal of Human Genetics

Volume: 58, P: 117
A novel homozygous missense SLC25A20 mutation in three CACT-deficient patients: clinical and autopsy data

Yasutsugu Chinen
Kumiko Yanagi
Koichi Nakanishi
ResearchOpen Access16 Apr 2020
Human Genome Variation

Volume: 7, P: 1-4
Identification of two novel mutations in the NOG gene associated with congenital stapes ankylosis and symphalangism

Akira Ganaha
Tadashi Kaname
Mikio Suzuki
Research13 Nov 2014
Journal of Human Genetics

Volume: 60, P: 27-34
Missense mutations in the DNA-binding/dimerization ___domain of NFIX cause Sotos-like features

Yuriko Yoneda
Hirotomo Saitsu
Naomichi Matsumoto
Research02 Feb 2012
Journal of Human Genetics

Volume: 57, P: 207-211
A commentary on The diagnostic utility of exome sequencing in Joubert syndrome and related disorders

Tadashi Kaname
Kumiko Yanagi
Kenji Naritomi
Comments & Opinion29 Nov 2012
Journal of Human Genetics

Volume: 58, P: 57
A commentary on the promise of whole-exome sequencing in medical genetics

Tadashi Kaname
Kumiko Yanagi
Kenji Naritomi
Comments & Opinion06 Feb 2014
Journal of Human Genetics

Volume: 59, P: 117-118
The history of human populations in the Japanese Archipelago inferred from genome-wide SNP data with a special reference to the Ainu and the Ryukyuan populations

Timothy Jinam
Nao Nishida
Naruya Saitou
Research08 Nov 2012
Journal of Human Genetics

Volume: 57, P: 787-795

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Agenesis of corpus callosum in three sibs

Application of personal computer to an analysis of smallde novo chromosomal insertion: A case ofde novo 3q2 trisomy with ins(8;3)

Malpuech facial clefting syndrome in a Japanese boy with cardiac defects

Small interstitial deletion of the long arm of chromosome 2 (2q24.3): Further delineation of 2q medial monosomy syndrome

Megalocornea-mental retardation syndrome: An additional case report

Determination of the breakpoints and the parental origin of a ring 22 chromosome: An analysis by high-resolution banding technique, quinacrine and silver stainings

The cohen syndrome: Report of a case

The costello syndrome: A boy with thick mitral valves and arrhythmias

Characterization of marker chromosomes by fish using microdissected probes from old carnoy-fixed cells: Report of two cases

Apert syndrome with partial polysyndactyly: A proposal on the classification of acrocephalosyndactyly

Germline KRAS and BRAF mutations in cardio-facio-cutaneous syndrome

Haploinsufficiency of NSD1 causes Sotos syndrome

Cosmid clones from microdissected human chromosomal region 15q11–q13

A novel nonsense SMC1A mutation in a patient with intractable epilepsy and cardiac malformation

Mutations affecting components of the SWI/SNF complex cause Coffin-Siris syndrome

Blood pressure during long-term cilostazol-based dual antiplatelet therapy after stroke: a post hoc analysis of the CSPS.com trial

An application supporting diagnosis for rare genetic diseases – UR-DBMS and Syndrome Finder –

Molecular karyotyping in 17 patients and mutation screening in 41 patients with Kabuki syndrome

Additional findings of tibial dysplasia in a male with orofaciodigital syndrome type XVI

In memoriam of Shozo Ohdo MD, PhD: one of the pioneers of clinical geneticist in Japan

A novel homozygous missense SLC25A20 mutation in three CACT-deficient patients: clinical and autopsy data

Identification of two novel mutations in the NOG gene associated with congenital stapes ankylosis and symphalangism

Missense mutations in the DNA-binding/dimerization ___domain of NFIX cause Sotos-like features

A commentary on The diagnostic utility of exome sequencing in Joubert syndrome and related disorders

A commentary on the promise of whole-exome sequencing in medical genetics

The history of human populations in the Japanese Archipelago inferred from genome-wide SNP data with a special reference to the Ainu and the Ryukyuan populations

Search

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