Works matching IS 15524825 AND DT 2021 AND VI 185 AND IP 11
Results: 46
Heritable disorders of oxygen sensing.
- Published in:
- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 11, p. 3334, doi. 10.1002/ajmg.a.62521
- Publication type:
- Article
Three decades of the Human Genome Organization.
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 11, p. 3314, doi. 10.1002/ajmg.a.62512
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Mendelian disease research in the Plain populations of Lancaster County, Pennsylvania.
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 11, p. 3322, doi. 10.1002/ajmg.a.62489
- Publication type:
- Article
Victor McKusick and his role in the founding of the European School of Genetic Medicine.
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 11, p. 3253, doi. 10.1002/ajmg.a.62481
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A novel homozygous mutation in the human ALG12 gene results in an aberrant profile of oligomannose N‐glycans in patient's serum.
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 11, p. 3494, doi. 10.1002/ajmg.a.62474
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Toward precision medicine in vascular connective tissue disorders.
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 11, p. 3340, doi. 10.1002/ajmg.a.62461
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Expanding the phenotype: Four new cases and hope for treatment in Bachmann‐Bupp syndrome.
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 11, p. 3485, doi. 10.1002/ajmg.a.62473
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The first post‐natal clinical description of true mosaic complete tetrasomy 21: A case report.
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 11, p. 3507, doi. 10.1002/ajmg.a.62471
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Expanding the phenotype of ASXL3‐related syndrome: A comprehensive description of 45 unpublished individuals with inherited and de novo pathogenic variants in ASXL3.
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 11, p. 3446, doi. 10.1002/ajmg.a.62465
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The youngest pair of siblings with Mucopolysaccharidosis type IVA to receive enzyme replacement therapy to date: A case report.
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 11, p. 3510, doi. 10.1002/ajmg.a.62469
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Current state of the art in treatment of Mendelian disease: Skeletal dysplasias.
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 11, p. 3359, doi. 10.1002/ajmg.a.62468
- Publication type:
- Article
The burden of pathogenic variants in clinically actionable genes in a founder population.
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 11, p. 3476, doi. 10.1002/ajmg.a.62472
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Using Online Mendelian Inheritance in Man in low‐ and middle‐income countries.
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 11, p. 3284, doi. 10.1002/ajmg.a.62467
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The Rizzoli Multiple Osteochondromas Classification revised: describing the phenotype to improve clinical practice.
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 11, p. 3466, doi. 10.1002/ajmg.a.62470
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Age at and indication for diagnosis of Turner syndrome in the pediatric population.
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 11, p. 3411, doi. 10.1002/ajmg.a.62459
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Magnitude of Mendelian versus complex inheritance of rare disorders.
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 11, p. 3287, doi. 10.1002/ajmg.a.62463
- Publication type:
- Article
Biallelic ITGB4 variants in familial pyloric atresia without epidermolysis bullosa: Report of two families with five siblings.
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 11, p. 3427, doi. 10.1002/ajmg.a.62462
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Survival outcomes of very low birth weight infants with trisomy 18.
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 11, p. 3459, doi. 10.1002/ajmg.a.62466
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The experiences and support needs of siblings of people with mucopolysaccharidosis.
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 11, p. 3418, doi. 10.1002/ajmg.a.62460
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Novel cases of pediatric sudden cardiac death secondary to TRDN mutations presenting as long QT syndrome at rest and catecholaminergic polymorphic ventricular tachycardia during exercise: The TRDN arrhythmia syndrome.
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 11, p. 3433, doi. 10.1002/ajmg.a.62464
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Toward better characterization of restricted and repetitive behaviors in individuals with germline heterozygous PTEN mutations.
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 11, p. 3401, doi. 10.1002/ajmg.a.62458
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Whole genome sequencing identifies pathogenic RNU4ATAC variants in a child with recurrent encephalitis, microcephaly, and normal stature.
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 11, p. 3502, doi. 10.1002/ajmg.a.62457
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Ancestral patterns of recessive dystrophic epidermolysis bullosa mutations in Hispanic populations suggest sephardic ancestry.
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 11, p. 3390, doi. 10.1002/ajmg.a.62456
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A recurrent de novo variant supports KCNC2 involvement in the pathogenesis of developmental and epileptic encephalopathy.
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 11, p. 3384, doi. 10.1002/ajmg.a.62455
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Victor Almon McKusick: In the footsteps of Mendel and Osler.
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 11, p. 3193, doi. 10.1002/ajmg.a.62451
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- Article
Festschrift for Victor A. McKusick on the Centenary of his Birth: Introduction.
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 11, p. 3189, doi. 10.1002/ajmg.a.62441
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Victor McKusick and his short course.
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 11, p. 3242, doi. 10.1002/ajmg.a.62435
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Clan genomics: From OMIM phenotypic traits to genes and biology.
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 11, p. 3294, doi. 10.1002/ajmg.a.62434
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- Article
Memories of Victor A. McKusick.
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 11, p. 3377, doi. 10.1002/ajmg.a.62431
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The genes of OMIM: A legacy of Victor McKusick.
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 11, p. 3276, doi. 10.1002/ajmg.a.62415
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Online Mendelian Inheritance in Man (OMIM®): Victor McKusick's magnum opus.
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 11, p. 3259, doi. 10.1002/ajmg.a.62407
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Anticipating the ethical, legal, and social implications of human genome research: An ongoing experiment.
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 11, p. 3369, doi. 10.1002/ajmg.a.62405
- Publication type:
- Article
History of the methodology of disease gene identification.
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 11, p. 3266, doi. 10.1002/ajmg.a.62400
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- Article
Viewing Victor McKusick's legacy through the lens of his bibliography.
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 11, p. 3212, doi. 10.1002/ajmg.a.62394
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In Memoriam: "Holstein cows in Holstein." Victor A. McKusick: 40 years of remembrance from Europe.
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 11, p. 3208, doi. 10.1002/ajmg.a.62390
- Publication type:
- Article
Milestones in treatments for inborn errors of metabolism: Reflections on Where chemistry and medicine meet.
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 11, p. 3350, doi. 10.1002/ajmg.a.62385
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The evolution of genetic counseling at Johns Hopkins Hospital and beyond.
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 11, p. 3230, doi. 10.1002/ajmg.a.62374
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Human cytogenetics at Johns Hopkins Hospital, 1959–1962.
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 11, p. 3236, doi. 10.1002/ajmg.a.62366
- Publication type:
- Article
The contributions of careful clinical observations: A legacy.
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 11, p. 3202, doi. 10.1002/ajmg.a.62342
- Publication type:
- Article
Reflections on the history of genetic medicine at Johns Hopkins University.
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 11, p. 3224, doi. 10.1002/ajmg.a.62246
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Cover Image, Volume 185A, Number 11, November 2021.
- Published in:
- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 11, p. i, doi. 10.1002/ajmg.a.61708
- Publication type:
- Article
In This Issue.
- Published in:
- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 11, p. 3187, doi. 10.1002/ajmg.a.61707
- Publication type:
- Article
ACMG Releases Guidelines for Exome and Genome Sequencing for Pediatric Patients.
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 11, p. 3185, doi. 10.1002/ajmg.a.61706
- Publication type:
- Article
A Promising Option for ADA‐SCID Patients.
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 11, p. 3184, doi. 10.1002/ajmg.a.61705
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- Article
Publication schedule for 2021.
- Published in:
- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 11, p. 3183, doi. 10.1002/ajmg.a.61704
- Publication type:
- Article
Table of Contents, Volume 185A, Number 11, November 2021.
- Published in:
- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 11, p. 3177, doi. 10.1002/ajmg.a.61703
- Publication type:
- Article