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American journal of medical genetics Pt. A

American journal of medical genetics Pt. A
紙雑誌
Wiley-Liss<Z54-A847>
国立国会図書館全国の図書館
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Radiological characteristics of skeletal growth in neonates and infants with achondroplasia

Radiological characteristics of skeletal growth in neonates and infants with achondroplasia
紙記事
Miyahara, Daisuke, Hasegawa, Kosei, Ago, Yuko, Futagawa, Natsuko, Miyahara, Hiroyuki, Higuchi, Yousuke, Yamada, Kazuki, Tetsunaga, Tomonori, Moriwake, Tadashi, Tanaka, Hiroyuki, Tsukahara, HirokazuWiley2023-12-29American Journal of Medical Genetics Part A
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Craniofacial and dental characteristics of three Japanese individuals with genetically diagnosed SATB2-associated syndrome

Craniofacial and dental characteristics of three Japanese individuals with genetically diagnosed SATB2-associated syndrome
デジタル記事
2023-05-04American Journal of Medical Genetics, Part A191 7p.1984-1989
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  • 掲載誌（ISSN）15524825

Craniofacial and dental characteristics of three Japanese individuals with genetically diagnosed SATB2-associated syndrome

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デジタル記事
Kurosaka, Hiroshi, Yamamoto, Sayuri, Hirasawa, Kyoko, Yanagishita, Tomoe, Fujioka, Kaoru, Yagasaki, Hideaki, Nagata, Miho, Ishihara, Yasuki, Yonei, Ayumi, Asano, Yoshihiro, Nagata, Namiki, Tsujimoto, Takayuki, Inubushi, Toshihiro, Yamamoto, Toshiyuki, Sakai, Norio, Yamashiro, TakashiJohn Wiley and Sons Inc2023-05-04American Journal of Medical Genetics, Part A191 7p.1984-1989
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  • 掲載誌（ISSN）15524833 15524825

Acute myeloid leukemia associated with CHARGE syndrome

Acute myeloid leukemia associated with CHARGE syndrome
記事
2023-02-12American Journal of Medical Genetics, Part A191 3p.878-881
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  • 掲載誌（ISSN）15524825

Complex congenital cardiovascular anomaly in a patient with <scp><i>AGO1</i></scp>‐associated disorder

Complex congenital cardiovascular anomaly in a patient with <scp><i>AGO1</i></scp>‐associated disorder
デジタル記事
2022-12-23American Journal of Medical Genetics Part A191 3p.882-892
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  • 掲載誌（ISSN）15524825

<i>PORCN</i>‐related microphthalmia with limb anomalies: Case report and literature review

<i>PORCN</i>‐related microphthalmia with limb anomalies: Case report and literature review
デジタル記事
2022-11-19American Journal of Medical Genetics Part A191 2p.636-639
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  • 掲載誌（ISSN）15524825

Interstitial microdeletions of 3q26.2q26.31 in two patients with neurodevelopmental delay and distinctive features

Interstitial microdeletions of 3q26.2q26.31 in two patients with neurodevelopmental delay and distinctive features
デジタル記事
2022-11-07American Journal of Medical Genetics Part A191 2p.400-407
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  • 掲載誌（ISSN）15524825

Long‐read sequence analysis for clustered genomic copy number aberrations revealed architectures of intricately intertwined rearrangements

Long‐read sequence analysis for clustered genomic copy number aberrations revealed architectures of intricately intertwined rearrangements
デジタル記事
2022-10-25American Journal of Medical Genetics Part A191 1p.112-119
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  • 掲載誌（ISSN）15524825

A rare homozygous missense <scp><i>GDF2</i></scp> (<scp>BMP9</scp>) mutation causing <scp>PAH</scp> in siblings: Does <scp>BMP10</scp> status contribute?

A rare homozygous missense <scp><i>GDF2</i></scp> (<scp>BMP9</scp>) mutation causing <scp>PAH</scp> in siblings: Does <scp>BMP10</scp> status contribute?
デジタル記事
2022-10-19American Journal of Medical Genetics Part A191 1p.228-233
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Comprehensive genetic screening for vascular Ehlers–Danlos syndrome through an amplification‐based next‐generation sequencing system

Comprehensive genetic screening for vascular Ehlers–Danlos syndrome through an amplification‐based next‐generation sequencing system
デジタル記事
2022-10-03American Journal of Medical Genetics Part A191 1p.37-51
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Neurovascular complications in adults with Neurofibromatosis type 1: A national referral center experience

Neurovascular complications in adults with Neurofibromatosis type 1: A national referral center experience
デジタル記事
2022-08-10American Journal of Medical Genetics Part A188 10p.3009-3015
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  • 掲載誌（ISSN）15524825

Severe neuroglycopenic symptoms due to nonketotic hypoglycemia in children with cardio‐facio‐cutaneous syndrome

Severe neuroglycopenic symptoms due to nonketotic hypoglycemia in children with cardio‐facio‐cutaneous syndrome
デジタル記事
2022-08-09American Journal of Medical Genetics Part A188 12p.3505-3509
インターネットで読める全国の図書館
  • 掲載誌（ISSN）15524825

Clinical and molecular features of patients with <scp><i>COL1</i></scp>‐related disorders: Implications for the wider spectrum and the risk of vascular complications

Clinical and molecular features of patients with <scp><i>COL1</i></scp>‐related disorders: Implications for the wider spectrum and the risk of vascular complications
デジタル記事
2022-07-13American Journal of Medical Genetics Part A188 9p.2560-2575
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  • 掲載誌（ISSN）15524825

Evidence for an association between <scp>Coffin‐Siris</scp> syndrome and congenital diaphragmatic hernia

Evidence for an association between <scp>Coffin‐Siris</scp> syndrome and congenital diaphragmatic hernia
デジタル記事
2022-07-07American Journal of Medical Genetics Part A188 9p.2718-2723
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  • 掲載誌（ISSN）15524825

Evaluation of the impact of the 2021 revised Neurofibromatosis type 1 diagnostic criteria on time to diagnosis

Evaluation of the impact of the 2021 revised Neurofibromatosis type 1 diagnostic criteria on time to diagnosis
デジタル記事
2022-07-02American Journal of Medical Genetics Part A188 9p.2584-2589
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Functional validation of novel variants in <scp><i>B4GALNT1</i></scp> associated with early‐onset complex hereditary spastic paraplegia with impaired ganglioside synthesis

Functional validation of novel variants in <scp><i>B4GALNT1</i></scp> associated with early‐onset complex hereditary spastic paraplegia with impaired ganglioside synthesis
デジタル記事
2022-07American Journal of Medical Genetics Part A188 9p.2590-2598
全国の図書館
  • 掲載誌（ISSN）15524825

Compound heterozygous variants of the <scp><i>NARS2</i></scp> gene in siblings with developmental delay, epilepsy, and neonatal diabetes syndrome

Compound heterozygous variants of the <scp><i>NARS2</i></scp> gene in siblings with developmental delay, epilepsy, and neonatal diabetes syndrome
デジタル記事
2022-06-15American Journal of Medical Genetics Part A188 8p.2466-2471
全国の図書館
  • 掲載誌（ISSN）15524825

Analysis of induced pluripotent stem cell clones derived from a patient with mosaic neurofibromatosis type 2

Analysis of induced pluripotent stem cell clones derived from a patient with mosaic neurofibromatosis type 2
デジタル記事
Ishi, Yukitomo, Era, Takumi, Yuzawa, Sayaka, Okamoto, Michinari, Sawaya, Ryosuke, Motegi, Hiroaki, Yamaguchi, Shigeru, Terasaka, Shunsuke, Houkin, Kiyohiro, Fujimura, MikiJohn Wiley & Sons2022-06American journal of medical genetics part A188 6p.1863-1867
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Analysis of induced pluripotent stem cell clones derived from a patient with mosaic neurofibromatosis type 2

Analysis of induced pluripotent stem cell clones derived from a patient with mosaic neurofibromatosis type 2
デジタル記事
2022-06American journal of medical genetics part A188 6p.1863-1867
インターネットで読める全国の図書館
  • 掲載誌（ISSN）15524825