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American journal of medical genetics Pt. C Seminars in medical genetics

American journal of medical genetics Pt. C Seminars in medical genetics
紙雑誌
Wiley-Liss<Z78-A528>
国立国会図書館全国の図書館
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Genotype–phenotype correlates in Joubert syndrome: A review

Genotype–phenotype correlates in Joubert syndrome: A review
デジタル記事
2022-03American Journal of Medical Genetics Part C: Seminars in Medical Genetics190 1p.72-88
全国の図書館
  • 掲載誌（ISSN）15524868

Teaching healthcare professionals to see

Teaching healthcare professionals to see
デジタル記事
2021-05-13American Journal of Medical Genetics Part C: Seminars in Medical Genetics187 2p.130-133
全国の図書館
  • 掲載誌（ISSN）15524868

Human recombinant lysosomal <scp>β‐Hexosaminidases</scp> produced in <scp><i>Pichia pastoris</i></scp> efficiently reduced lipid accumulation in <scp>Tay‐Sachs</scp> fibroblasts

Human recombinant lysosomal <scp>β‐Hexosaminidases</scp> produced in <scp><i>Pichia pastoris</i></scp> efficiently reduced lipid accumulation in <scp>Tay‐Sachs</scp> fibroblasts
デジタル記事
2020-10-27American Journal of Medical Genetics Part C: Seminars in Medical Genetics184 4p.885-895
全国の図書館
  • 掲載誌（ISSN）15524868

The new landscape of retinal gene therapy

The new landscape of retinal gene therapy
デジタル記事
2020-09American Journal of Medical Genetics Part C: Seminars in Medical Genetics184 3p.846-859
全国の図書館
  • 掲載誌（ISSN）15524868

Clinical and genetic characteristics of 10 Japanese patients with PROM1-associated retinal disorder: A report of the phenotype spectrum and a literature review in the Japanese population

Clinical and genetic characteristics of 10 Japanese patients with PROM1-associated retinal disorder: A report of the phenotype spectrum and a literature review in the Japanese population
デジタル記事
2020-09American Journal of Medical Genetics Part C: Seminars in Medical Genetics184 3p.656-
全国の図書館
  • 掲載誌（ISSN）15524868

<scp>RP2</scp>‐associated retinal disorder in a Japanese cohort: Report of novel variants and a literature review, identifying a genotype–phenotype association

<scp>RP2</scp>‐associated retinal disorder in a Japanese cohort: Report of novel variants and a literature review, identifying a genotype–phenotype association
デジタル記事
2020-09American Journal of Medical Genetics Part C: Seminars in Medical Genetics184 3p.675-693
インターネットで読める全国の図書館
  • 掲載誌（ISSN）15524868

Clinical and molecular findings in a cohort of 152 Brazilian severe early onset inherited retinal dystrophy patients

Clinical and molecular findings in a cohort of 152 Brazilian severe early onset inherited retinal dystrophy patients
デジタル記事
2020-08-31American Journal of Medical Genetics Part C: Seminars in Medical Genetics184 3p.728-752
全国の図書館
  • 掲載誌（ISSN）15524868

The peroxisomal disorder spectrum and Heimler syndrome: Deep phenotyping and review of the literature

The peroxisomal disorder spectrum and Heimler syndrome: Deep phenotyping and review of the literature
デジタル記事
2020-08-31American Journal of Medical Genetics Part C: Seminars in Medical Genetics184 3p.618-630
全国の図書館
  • 掲載誌（ISSN）15524868

Molecular and phenotypic investigation of a New Zealand cohort of childhood‐onset retinal dystrophy

Molecular and phenotypic investigation of a New Zealand cohort of childhood‐onset retinal dystrophy
デジタル記事
2020-08-28American Journal of Medical Genetics Part C: Seminars in Medical Genetics184 3p.708-717
全国の図書館
  • 掲載誌（ISSN）15524868

Clinical and genetic characteristics of Stargardt disease in a large Western China cohort: Report 1

Clinical and genetic characteristics of Stargardt disease in a large Western China cohort: Report 1
デジタル記事
2020-08-26American Journal of Medical Genetics Part C: Seminars in Medical Genetics184 3p.694-707
インターネットで読める全国の図書館
  • 掲載誌（ISSN）15524868

Clinical and genetic characteristics of 10 Japanese patients with <scp><i>PROM1</i></scp>‐associated retinal disorder: A report of the phenotype spectrum and a literature review in the Japanese population

Clinical and genetic characteristics of 10 Japanese patients with <scp><i>PROM1</i></scp>‐associated retinal disorder: A report of the phenotype spectrum and a literature review in the Japanese population
デジタル記事
2020-08-20American Journal of Medical Genetics Part C: Seminars in Medical Genetics184 3p.656-674
インターネットで読める全国の図書館
  • 掲載誌（ISSN）15524868

The epidemiology of sex chromosome abnormalities

The epidemiology of sex chromosome abnormalities
デジタル記事
2020-06American Journal of Medical Genetics Part C: Seminars in Medical Genetics184 2p.202-215
全国の図書館
  • 掲載誌（ISSN）15524868

Current survey of early childhood intervention services in infants and young children with sex chromosome aneuploidies

Current survey of early childhood intervention services in infants and young children with sex chromosome aneuploidies
デジタル記事
2020-05-25American Journal of Medical Genetics Part C: Seminars in Medical Genetics184 2p.414-427
全国の図書館
  • 掲載誌（ISSN）15524868

Genetic considerations for adults with congenital heart disease

Genetic considerations for adults with congenital heart disease
デジタル記事
2020-02-13American Journal of Medical Genetics Part C: Seminars in Medical Genetics184 1p.149-153
全国の図書館
  • 掲載誌（ISSN）15524868

22q11.2 deletion syndrome and congenital heart disease

22q11.2 deletion syndrome and congenital heart disease
デジタル記事
2020-02-12American Journal of Medical Genetics Part C: Seminars in Medical Genetics184 1p.64-72
全国の図書館
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Congenital heart defects in Noonan syndrome: Diagnosis, management, and treatment

Congenital heart defects in Noonan syndrome: Diagnosis, management, and treatment
デジタル記事
2020-02-05American Journal of Medical Genetics Part C: Seminars in Medical Genetics184 1p.73-80
全国の図書館
  • 掲載誌（ISSN）15524868

The genetics of isolated congenital heart disease

The genetics of isolated congenital heart disease
デジタル記事
2019-12-26American Journal of Medical Genetics Part C: Seminars in Medical Genetics184 1p.97-106
全国の図書館
  • 掲載誌（ISSN）15524868

The NuRD complex and macrocephaly associated neurodevelopmental disorders

The NuRD complex and macrocephaly associated neurodevelopmental disorders
デジタル記事
2019-11-18American Journal of Medical Genetics Part C: Seminars in Medical Genetics181 4p.548-556
全国の図書館
  • 掲載誌（ISSN）15524868

Rare <i>SUZ12</i> variants commonly cause an overgrowth phenotype

Rare <i>SUZ12</i> variants commonly cause an overgrowth phenotype
デジタル記事
2019-11-17American Journal of Medical Genetics Part C: Seminars in Medical Genetics181 4p.532-547
全国の図書館
  • 掲載誌（ISSN）15524868